If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.
| Variants with only 1 submission per condition | Variants with at least 2 submissions on the same condition and no conflicts |
Variants with a synonymous conflict (e.g. benign vs non-pathogenic) |
Variants with a confidence conflict (e.g. benign vs likely benign) |
Variants with a benign or likely benign vs uncertain conflict |
Variants with a category conflict (e.g. benign vs affects) |
Variants with a clinically significant conflict (e.g. benign vs pathogenic) |
Variants with any conflict |
|---|---|---|---|---|---|---|---|
| 1067088 | 257105 | 75 | 61138 | 46534 | 578 | 9134 | 109999 |
Significance breakdown #
In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.
| All conditions | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| not provided | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | affects | association | drug response | protective | other | |
| pathogenic | 67 | 9307 | 2895 | 118 | 79 | 2 | 6 | 70 | 2 | 108 | |
| likely pathogenic | 8190 | 5 | 5186 | 182 | 55 | 0 | 2 | 29 | 2 | 55 | |
| uncertain significance | 2621 | 4666 | 3 | 35172 | 7500 | 18 | 11 | 28 | 2 | 140 | |
| likely benign | 197 | 256 | 29484 | 0 | 40271 | 7 | 9 | 36 | 4 | 98 | |
| benign | 187 | 105 | 5853 | 37950 | 0 | 14 | 28 | 68 | 14 | 46 | |
| affects | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| association | 1 | 1 | 3 | 3 | 2 | 0 | 0 | 0 | 0 | 1 | |
| other | 28 | 12 | 25 | 46 | 39 | 0 | 3 | 22 | 1 | 0 | |
Condition to condition summary #
Total conditions: 5818
| Condition | Variants with only 1 submission per condition | Variants with at least 2 submissions on the same condition and no conflicts |
Variants with a synonymous conflict (e.g. benign vs non-pathogenic) |
Variants with a confidence conflict (e.g. benign vs likely benign) |
Variants with a benign or likely benign vs uncertain conflict |
Variants with a category conflict (e.g. benign vs affects) |
Variants with a clinically significant conflict (e.g. benign vs pathogenic) |
Variants with any conflict |
|---|---|---|---|---|---|---|---|---|
| not provided | 1189768 | 182675 | 9 | 34570 | 24505 | 71 | 5105 | 61749 |
| not specified | 0 | 78805 | 6 | 31260 | 21366 | 44 | 2309 | 51368 |
| Cardiovascular phenotype | 0 | 19195 | 0 | 3770 | 5732 | 6 | 782 | 9829 |
| Hereditary nonpolyposis colorectal neoplasms | 0 | 2750 | 0 | 655 | 1483 | 1 | 128 | 2166 |
| Breast and/or ovarian cancer | 0 | 825 | 1 | 530 | 354 | 1 | 46 | 847 |
| Spastic paraplegia | 0 | 992 | 0 | 393 | 429 | 1 | 48 | 845 |
| RYR1-related disorder | 0 | 1287 | 0 | 246 | 254 | 0 | 155 | 608 |
| See cases | 0 | 707 | 3 | 281 | 170 | 4 | 135 | 559 |
| Malignant hyperthermia, susceptibility to, 1 | 0 | 1119 | 13 | 142 | 232 | 0 | 177 | 523 |
| TTN-related disorder | 0 | 399 | 0 | 182 | 360 | 0 | 18 | 521 |
| Hereditary cancer | 0 | 56 | 0 | 24 | 251 | 1 | 4 | 260 |
| Rare genetic deafness | 0 | 312 | 0 | 196 | 3 | 0 | 44 | 227 |
| RAI1-related disorder | 0 | 270 | 0 | 77 | 150 | 0 | 2 | 218 |
| Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 0 | 243 | 0 | 44 | 148 | 0 | 9 | 198 |
| Tip-toe gait | 0 | 24 | 0 | 33 | 25 | 0 | 145 | 190 |
| ABCA4-related disorder | 0 | 85 | 3 | 93 | 92 | 1 | 28 | 187 |
| BRCA2-related disorder | 0 | 263 | 0 | 85 | 89 | 0 | 9 | 162 |
| KMT2D-related disorder | 0 | 145 | 0 | 83 | 94 | 0 | 4 | 161 |
| PLEC-related disorder | 0 | 103 | 0 | 29 | 133 | 0 | 0 | 157 |
| Hereditary hyperinsulinism | 0 | 106 | 0 | 58 | 76 | 0 | 11 | 140 |
| FLNB-Related Spectrum Disorders | 0 | 50 | 0 | 40 | 100 | 0 | 0 | 136 |
| PIEZO1-related disorder | 0 | 88 | 0 | 55 | 83 | 0 | 2 | 126 |
| PKD1-related disorder | 0 | 206 | 0 | 77 | 38 | 0 | 20 | 125 |
| PCNT-related disorder | 0 | 645 | 0 | 51 | 70 | 0 | 6 | 123 |
| PKHD1-related disorder | 0 | 123 | 0 | 26 | 84 | 0 | 15 | 119 |
| POLG-related disorder | 0 | 106 | 0 | 39 | 67 | 0 | 23 | 115 |
| Epidermolysis bullosa dystrophica inversa, autosomal recessive | 0 | 82 | 0 | 15 | 99 | 0 | 2 | 113 |
| Epileptic encephalopathy | 0 | 338 | 0 | 75 | 33 | 1 | 7 | 111 |
| PRPH2-related disorder | 0 | 101 | 0 | 59 | 12 | 0 | 39 | 105 |
| ADGRV1-related disorder | 0 | 53 | 0 | 46 | 71 | 0 | 1 | 104 |
| Malignant hyperthermia, susceptibility to, 5 | 0 | 346 | 1 | 44 | 40 | 0 | 15 | 97 |
| CREBBP-related disorder | 0 | 86 | 0 | 46 | 56 | 0 | 0 | 95 |
| SYNE1-related disorder | 0 | 64 | 0 | 40 | 61 | 0 | 0 | 95 |
| WFS1-Related Spectrum Disorders | 0 | 71 | 0 | 42 | 52 | 0 | 1 | 93 |
| ATM-related disorder | 0 | 194 | 0 | 32 | 61 | 0 | 4 | 89 |
| USH2A-related disorder | 0 | 83 | 0 | 52 | 37 | 0 | 12 | 89 |
| TSC2-related disorder | 0 | 136 | 0 | 45 | 49 | 0 | 2 | 88 |
| Autosomal recessive retinitis pigmentosa | 0 | 119 | 0 | 32 | 42 | 0 | 12 | 82 |
| ARID1B-Related Disorder | 0 | 68 | 0 | 67 | 16 | 0 | 2 | 81 |
| Congenital muscular dystrophy due to partial LAMA2 deficiency | 0 | 74 | 0 | 23 | 56 | 0 | 2 | 81 |
| GLUT1 deficiency syndrome 1, autosomal recessive | 0 | 167 | 0 | 31 | 37 | 0 | 19 | 80 |
| EP300-related disorder | 0 | 93 | 0 | 45 | 35 | 0 | 0 | 77 |
| POLE-related disorder | 0 | 194 | 0 | 30 | 46 | 0 | 5 | 75 |
| Nephrolithiasis/nephrocalcinosis | 0 | 118 | 0 | 27 | 41 | 0 | 8 | 74 |
| Inherited breast cancer and ovarian cancer | 0 | 163 | 0 | 36 | 28 | 0 | 15 | 73 |
| Spherocytosis | 0 | 32 | 0 | 13 | 60 | 0 | 0 | 73 |
| VPS13B-related disorder | 0 | 164 | 0 | 15 | 58 | 0 | 0 | 73 |
| MSH6-related disorder | 0 | 101 | 0 | 32 | 44 | 0 | 1 | 72 |
| Monogenic hearing loss | 0 | 70 | 1 | 50 | 2 | 0 | 27 | 72 |
| Seizure | 0 | 117 | 0 | 37 | 14 | 1 | 24 | 72 |
| BRCA1-related disorder | 0 | 117 | 0 | 50 | 31 | 0 | 3 | 71 |
| Charcot-Marie-Tooth Neuropathy X | 0 | 82 | 0 | 39 | 10 | 0 | 22 | 71 |
| APC-related disorder | 0 | 126 | 0 | 30 | 47 | 0 | 2 | 68 |
| Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome | 0 | 294 | 0 | 37 | 19 | 0 | 15 | 68 |
| HSPG2-related disorder | 0 | 37 | 0 | 42 | 33 | 0 | 0 | 68 |
| CACNA1A-related disorder | 0 | 62 | 0 | 39 | 33 | 0 | 6 | 67 |
| LRP2-related disorder | 0 | 83 | 0 | 38 | 35 | 0 | 0 | 67 |
| MECP2-related disorder | 0 | 80 | 0 | 33 | 34 | 0 | 3 | 66 |
| LAMA5-related disorder | 0 | 166 | 0 | 55 | 11 | 0 | 0 | 65 |
| APC-Associated Polyposis Disorders | 0 | 47 | 0 | 29 | 39 | 0 | 0 | 63 |
| CFI-related disorder | 0 | 53 | 4 | 27 | 5 | 0 | 33 | 62 |
| MYO7A-related disorder | 0 | 83 | 0 | 23 | 39 | 0 | 6 | 62 |
| COL11A2-related disorder | 0 | 58 | 0 | 19 | 45 | 0 | 1 | 61 |
| FRAS1-related disorder | 0 | 97 | 0 | 33 | 35 | 0 | 0 | 61 |
| History of neurodevelopmental disorder | 0 | 46 | 0 | 33 | 26 | 0 | 5 | 61 |
| NEB-related disorder | 0 | 55 | 0 | 17 | 46 | 0 | 1 | 61 |
| COL11A1-related disorder | 0 | 55 | 0 | 25 | 39 | 0 | 2 | 60 |
| Hirschsprung disease, susceptibility to, 1 | 0 | 144 | 0 | 30 | 26 | 0 | 11 | 60 |
| COL2A1-related disorder | 0 | 71 | 0 | 20 | 37 | 0 | 4 | 59 |
| ZNF469-related disorder | 0 | 89 | 0 | 31 | 31 | 0 | 0 | 57 |
| ABCB11-related disorder | 0 | 59 | 0 | 20 | 38 | 0 | 4 | 55 |
| ANKRD11-related disorder | 0 | 45 | 0 | 49 | 5 | 0 | 1 | 55 |
| CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | 0 | 45 | 0 | 28 | 28 | 0 | 1 | 55 |
| COL7A1-related disorder | 0 | 92 | 0 | 29 | 25 | 0 | 6 | 55 |
| FAT4-related disorder | 0 | 84 | 0 | 36 | 22 | 0 | 0 | 55 |
| NOTCH3-related disorder | 0 | 38 | 0 | 35 | 21 | 0 | 3 | 55 |
| NPHP4-related disorder | 0 | 51 | 0 | 3 | 52 | 0 | 1 | 55 |
| DMD-related disorder | 0 | 22 | 0 | 29 | 31 | 0 | 0 | 54 |
| Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 0 | 94 | 0 | 33 | 19 | 0 | 2 | 54 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 0 | 109 | 2 | 31 | 18 | 0 | 5 | 54 |
| CHD7-related disorder | 0 | 67 | 0 | 29 | 29 | 0 | 3 | 53 |
| COL6A3-related disorder | 0 | 38 | 0 | 19 | 35 | 0 | 1 | 53 |
| MACF1-related disorder | 0 | 46 | 0 | 45 | 10 | 0 | 0 | 53 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 0 | 31 | 0 | 43 | 1 | 2 | 16 | 53 |
| CDH23-related disorder | 0 | 76 | 0 | 28 | 25 | 0 | 1 | 52 |
| ARID1A-related disorder | 0 | 32 | 0 | 35 | 16 | 0 | 2 | 51 |
| ABCC2-related disorder | 0 | 86 | 0 | 25 | 26 | 0 | 3 | 50 |
| ABCG8-related disorder | 0 | 32 | 0 | 18 | 37 | 1 | 2 | 49 |
| Corticosterone methyl oxidase type II deficiency | 0 | 40 | 0 | 26 | 22 | 0 | 1 | 49 |
| Intellectual disability, CASK-related, X-linked | 0 | 67 | 0 | 21 | 28 | 0 | 5 | 49 |
| MYO15A-related disorder | 0 | 40 | 0 | 31 | 20 | 0 | 4 | 49 |
| NOTCH2-related disorder | 0 | 31 | 0 | 14 | 37 | 0 | 0 | 49 |
| OBSCN-related disorder | 0 | 149 | 0 | 43 | 6 | 0 | 1 | 49 |
| CC2D2A-related disorder | 0 | 36 | 0 | 17 | 29 | 0 | 5 | 48 |
| DYSF-related disorder | 0 | 23 | 0 | 11 | 34 | 0 | 5 | 48 |
| FAT1-related disorder | 0 | 77 | 0 | 28 | 21 | 0 | 0 | 48 |
| Fetal anomalies with a likely genetic cause | 0 | 42 | 0 | 27 | 4 | 2 | 21 | 48 |
| Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 0 | 118 | 0 | 35 | 14 | 0 | 1 | 48 |
| Plasma factor XI deficiency | 0 | 62 | 0 | 27 | 14 | 0 | 7 | 48 |
| COL4A4-related disorder | 0 | 51 | 0 | 22 | 14 | 0 | 17 | 47 |
| PHIP-related disorder | 0 | 110 | 0 | 16 | 31 | 0 | 0 | 47 |
| FBN3-related disorder | 0 | 113 | 0 | 41 | 6 | 0 | 0 | 46 |
| COL4A3-related disorder | 0 | 44 | 0 | 21 | 14 | 0 | 16 | 45 |
| LZTR1-related disorder | 0 | 76 | 0 | 27 | 12 | 0 | 11 | 45 |
| Macular dystrophy | 0 | 15 | 1 | 38 | 2 | 0 | 12 | 45 |
| NF1-related disorder | 0 | 153 | 0 | 20 | 26 | 0 | 2 | 45 |
| OTOG-related disorder | 0 | 56 | 0 | 21 | 26 | 0 | 0 | 45 |
| Anophthalmia-microphthalmia syndrome | 0 | 45 | 0 | 13 | 29 | 1 | 4 | 44 |
| CEP290-related disorder | 0 | 120 | 0 | 16 | 28 | 0 | 2 | 44 |
| FGFR2-related craniosynostosis | 0 | 97 | 0 | 30 | 12 | 0 | 2 | 44 |
| FLNB-related disorder | 0 | 48 | 0 | 18 | 28 | 0 | 0 | 44 |
| ABCB4-related disorder | 0 | 61 | 0 | 15 | 23 | 0 | 7 | 43 |
| FLNC-related disorder | 0 | 54 | 0 | 27 | 21 | 0 | 2 | 43 |
| KCNQ1-related disorder | 0 | 45 | 0 | 40 | 3 | 0 | 0 | 43 |
| KMT2A-related disorder | 0 | 54 | 0 | 32 | 11 | 0 | 0 | 43 |
| MSH2-related disorder | 0 | 82 | 0 | 10 | 32 | 0 | 2 | 43 |
| PTCH1-related disorder | 0 | 60 | 0 | 19 | 25 | 0 | 1 | 43 |
| SETX-related disorder | 0 | 77 | 0 | 19 | 28 | 0 | 1 | 43 |
| SMARCA4-related disorder | 0 | 76 | 0 | 27 | 15 | 0 | 1 | 43 |
| ANKRD26-related disorder | 0 | 43 | 0 | 22 | 24 | 0 | 0 | 42 |
| COL6A2-related disorder | 0 | 26 | 0 | 9 | 34 | 0 | 0 | 42 |
| Disorders of Intracellular Cobalamin Metabolism | 0 | 129 | 0 | 27 | 15 | 0 | 0 | 42 |
| FLNA-related disorder | 0 | 87 | 0 | 18 | 28 | 0 | 1 | 42 |
| Isolated Nonsyndromic Congenital Heart Disease | 0 | 20 | 0 | 29 | 18 | 0 | 0 | 42 |
| NSD1-related disorder | 0 | 36 | 0 | 28 | 23 | 0 | 0 | 42 |
| CDH1-related disorder | 0 | 42 | 0 | 20 | 22 | 0 | 1 | 40 |
| COL4A5-related disorder | 0 | 25 | 0 | 35 | 8 | 0 | 1 | 40 |
| FBN1-related disorder | 0 | 63 | 0 | 24 | 16 | 0 | 4 | 40 |
| GNAS-related disorder | 0 | 90 | 0 | 16 | 21 | 0 | 4 | 40 |
| MYBPC3-related disorder | 0 | 47 | 0 | 25 | 13 | 0 | 5 | 40 |
| Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin | 0 | 63 | 0 | 24 | 14 | 0 | 5 | 40 |
| PCDH15-related disorder | 0 | 31 | 0 | 20 | 22 | 0 | 1 | 40 |
| SCN5A-related disorder | 0 | 61 | 0 | 29 | 8 | 0 | 8 | 40 |
| TJP2-related disorder | 0 | 34 | 0 | 12 | 31 | 0 | 2 | 40 |
| COL18A1-related disorder | 0 | 109 | 0 | 21 | 19 | 0 | 1 | 39 |
| MYH7-related disorder | 0 | 60 | 0 | 22 | 9 | 0 | 11 | 39 |
| NPC1-related disorder | 0 | 39 | 0 | 9 | 27 | 0 | 4 | 39 |
| TP53-related disorder | 0 | 52 | 0 | 25 | 16 | 0 | 1 | 39 |
| DNAH9-related disorder | 0 | 120 | 0 | 31 | 7 | 0 | 0 | 38 |
| EGFR-related lung cancer | 0 | 102 | 0 | 26 | 12 | 0 | 2 | 38 |
| Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 | 0 | 57 | 0 | 13 | 12 | 0 | 16 | 38 |
| Inherited ovarian cancer (without breast cancer) | 0 | 74 | 0 | 26 | 11 | 0 | 5 | 38 |
| KAT6A-related disorder | 0 | 10 | 0 | 33 | 7 | 0 | 0 | 38 |
| PMS2-related disorder | 0 | 69 | 0 | 15 | 21 | 0 | 4 | 38 |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 0 | 141 | 0 | 30 | 5 | 0 | 4 | 38 |
| AHDC1-related disorder | 0 | 35 | 0 | 32 | 6 | 0 | 0 | 37 |
| KMT2C-related disorder | 0 | 46 | 0 | 33 | 5 | 0 | 0 | 37 |
| LRP5-related disorder | 0 | 76 | 0 | 14 | 23 | 0 | 3 | 37 |
| NOTCH1-related disorder | 0 | 97 | 0 | 23 | 16 | 0 | 1 | 37 |
| Neurodevelopmental delay | 0 | 59 | 0 | 24 | 4 | 0 | 11 | 37 |
| RELN-related disorder | 0 | 22 | 0 | 15 | 23 | 0 | 0 | 37 |
| TRIOBP-related disorder | 0 | 19 | 0 | 25 | 13 | 0 | 0 | 37 |
| COL4A2-related disorder | 0 | 42 | 0 | 22 | 12 | 0 | 2 | 36 |
| DOCK6-related disorder | 0 | 43 | 0 | 25 | 12 | 0 | 0 | 36 |
| MTOR-related disorder | 0 | 40 | 0 | 28 | 7 | 0 | 1 | 36 |
| PALB2-related disorder | 0 | 112 | 0 | 13 | 23 | 0 | 0 | 36 |
| TNXB-related disorder | 0 | 49 | 0 | 22 | 15 | 0 | 1 | 36 |
| ANK2-related disorder | 0 | 32 | 0 | 27 | 7 | 0 | 3 | 35 |
| ASPM-related disorder | 0 | 26 | 0 | 26 | 15 | 0 | 0 | 35 |
| AUTS2-related disorder | 0 | 19 | 0 | 27 | 10 | 0 | 1 | 35 |
| SETBP1-related disorder | 0 | 37 | 0 | 23 | 12 | 0 | 1 | 35 |
| FREM2-related disorder | 0 | 60 | 0 | 16 | 23 | 0 | 0 | 34 |
| HIVEP2-related disorder | 0 | 33 | 0 | 30 | 4 | 0 | 0 | 34 |
| OCA2-related disorder | 0 | 29 | 0 | 23 | 6 | 0 | 14 | 34 |
| POLD1-related disorder | 0 | 88 | 0 | 22 | 15 | 0 | 0 | 34 |
| AXIN2-related disorder | 0 | 45 | 0 | 13 | 21 | 0 | 0 | 33 |
| DYNC1H1-related disorder | 0 | 51 | 0 | 25 | 6 | 0 | 3 | 33 |
| MYH3-related disorder | 0 | 37 | 0 | 25 | 8 | 0 | 5 | 33 |
| NBAS-related disorder | 0 | 42 | 0 | 20 | 12 | 0 | 1 | 33 |
| SON-related disorder | 0 | 44 | 0 | 22 | 11 | 0 | 0 | 33 |
| Abnormality of the musculature | 0 | 39 | 0 | 26 | 0 | 0 | 9 | 32 |
| BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to | 0 | 71 | 0 | 13 | 19 | 0 | 0 | 32 |
| CRB2-related disorder | 0 | 33 | 0 | 18 | 16 | 0 | 0 | 32 |
| GAA-related disorder | 0 | 29 | 0 | 12 | 17 | 0 | 7 | 32 |
| LOXHD1-related disorder | 0 | 29 | 0 | 15 | 18 | 0 | 1 | 32 |
| OTOGL-related disorder | 0 | 26 | 0 | 19 | 17 | 0 | 1 | 32 |
| RNF213-related disorder | 0 | 33 | 0 | 29 | 5 | 0 | 0 | 32 |
| SMPD1-related disorder | 0 | 25 | 0 | 6 | 24 | 0 | 2 | 32 |
| desflurane response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| enflurane response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| halothane response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| isoflurane response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| methoxyflurane response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| sevoflurane response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| succinylcholine response - Toxicity | 0 | 8 | 0 | 0 | 0 | 32 | 0 | 32 |
| ALPL-related disorder | 0 | 31 | 0 | 22 | 5 | 0 | 6 | 31 |
| Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 0 | 27 | 0 | 15 | 17 | 0 | 0 | 31 |
| BRIP1-related disorder | 0 | 73 | 0 | 18 | 12 | 0 | 3 | 31 |
| CHD8-related disorder | 0 | 21 | 0 | 24 | 10 | 0 | 1 | 31 |
| EHHADH-related disorder | 0 | 12 | 0 | 4 | 28 | 0 | 0 | 31 |
| FANCM-related disorder | 0 | 51 | 0 | 10 | 22 | 0 | 1 | 31 |
| LAMA2-related disorder | 0 | 30 | 0 | 8 | 23 | 0 | 1 | 31 |
| SYNE2-related disorder | 0 | 36 | 0 | 16 | 20 | 0 | 0 | 31 |
| DCHS1-related disorder | 0 | 62 | 0 | 18 | 13 | 0 | 0 | 30 |
| Global developmental delay | 0 | 31 | 0 | 23 | 6 | 1 | 6 | 30 |
| KMT2B-related disorder | 0 | 23 | 0 | 21 | 9 | 0 | 0 | 30 |
| Lethal congenital contractural syndrome Finnish type | 0 | 20 | 0 | 25 | 6 | 0 | 0 | 30 |
| MLH1-related disorder | 0 | 58 | 0 | 15 | 14 | 0 | 4 | 30 |
| OTOF-related disorder | 0 | 31 | 0 | 16 | 16 | 0 | 0 | 30 |
| RYR2-related disorder | 0 | 35 | 0 | 17 | 16 | 0 | 0 | 30 |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 0 | 63 | 0 | 27 | 0 | 2 | 2 | 30 |
| TSC1-related disorder | 0 | 43 | 0 | 11 | 26 | 0 | 0 | 30 |
| ANO5-Related Muscle Diseases | 0 | 38 | 0 | 18 | 11 | 0 | 3 | 29 |
| HUWE1-related disorder | 0 | 24 | 0 | 27 | 5 | 0 | 0 | 29 |
| KIDINS220-related disorder | 0 | 212 | 0 | 11 | 18 | 0 | 0 | 29 |
| LONP1-related disorder | 0 | 24 | 0 | 21 | 8 | 0 | 2 | 29 |
| Left ventricular noncompaction cardiomyopathy | 0 | 24 | 0 | 11 | 10 | 0 | 10 | 29 |
| MKS1-related disorder | 0 | 61 | 0 | 6 | 19 | 0 | 5 | 29 |
| MSH3-related disorder | 0 | 77 | 0 | 13 | 20 | 0 | 0 | 29 |
| MYH14-related disorder | 0 | 23 | 0 | 19 | 10 | 0 | 2 | 29 |
| Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 0 | 46 | 0 | 26 | 0 | 0 | 5 | 29 |
| SPTB-related disorder | 0 | 22 | 0 | 23 | 13 | 0 | 1 | 29 |
| TRRAP-related disorder | 0 | 57 | 0 | 24 | 9 | 0 | 0 | 29 |
| ABCC6-related disorder | 0 | 47 | 0 | 14 | 9 | 0 | 7 | 28 |
| ATP8B1-related disorder | 0 | 43 | 0 | 11 | 24 | 0 | 0 | 28 |
| Abnormal brain morphology | 0 | 0 | 0 | 8 | 1 | 0 | 20 | 28 |
| CACNA1E-related disorder | 0 | 21 | 0 | 25 | 3 | 0 | 1 | 28 |
| CACNA1H-related disorder | 0 | 20 | 0 | 23 | 7 | 0 | 0 | 28 |
| DHCR7-related disorder | 0 | 25 | 0 | 9 | 17 | 0 | 4 | 28 |
| Early onset severe obesity | 0 | 25 | 0 | 13 | 11 | 0 | 7 | 28 |
| HNF1A-related disorder | 0 | 20 | 0 | 17 | 7 | 0 | 5 | 28 |
| LAMC3-related disorder | 0 | 30 | 0 | 12 | 18 | 0 | 0 | 28 |
| RPGRIP1L-related disorder | 0 | 72 | 0 | 9 | 17 | 0 | 2 | 28 |
| ASXL1-related disorder | 0 | 18 | 0 | 22 | 4 | 0 | 1 | 27 |
| CHEK2-related disorder | 0 | 50 | 0 | 6 | 15 | 0 | 7 | 27 |
| CPLANE1-related disorder | 0 | 34 | 0 | 13 | 13 | 0 | 3 | 27 |
| CUBN-related disorder | 0 | 34 | 0 | 15 | 10 | 0 | 3 | 27 |
| Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma | 0 | 63 | 0 | 10 | 15 | 0 | 4 | 27 |
| Dyslipidemia | 0 | 44 | 0 | 21 | 0 | 0 | 6 | 27 |
| Hypercholesterolemia | 0 | 16 | 0 | 9 | 11 | 1 | 10 | 27 |
| Isolated thoracic aortic aneurysm | 0 | 11 | 0 | 15 | 5 | 0 | 8 | 27 |
| PKD1L1-related disorder | 0 | 104 | 0 | 16 | 11 | 0 | 0 | 27 |
| PLXNA1-related disorder | 0 | 111 | 0 | 18 | 9 | 0 | 0 | 27 |
| TP63-Related Spectrum Disorders | 0 | 41 | 0 | 17 | 10 | 0 | 2 | 27 |
| ATP7B-related disorder | 0 | 31 | 0 | 12 | 8 | 0 | 7 | 26 |
| CFHR5 deficiency | 0 | 13 | 0 | 19 | 8 | 0 | 2 | 26 |
| CYP27A1-related disorder | 0 | 30 | 0 | 8 | 15 | 0 | 5 | 26 |
| Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB | 0 | 52 | 0 | 13 | 6 | 0 | 8 | 26 |
| Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 0 | 67 | 0 | 10 | 16 | 0 | 0 | 26 |
| FANCA-related disorder | 0 | 63 | 0 | 9 | 17 | 0 | 2 | 26 |
| Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 0 | 145 | 0 | 13 | 13 | 0 | 1 | 26 |
| LAMA1-related disorder | 0 | 26 | 0 | 16 | 13 | 0 | 0 | 26 |
| PEX1-related disorder | 0 | 20 | 0 | 7 | 20 | 0 | 0 | 26 |
| PTEN-related disorder | 0 | 36 | 0 | 10 | 15 | 0 | 2 | 26 |
| RECQL4-related disorder | 0 | 47 | 0 | 13 | 14 | 0 | 1 | 26 |
| SPEG-related disorder | 0 | 50 | 0 | 20 | 9 | 0 | 0 | 26 |
| STK11-related disorder | 0 | 30 | 0 | 17 | 10 | 0 | 0 | 26 |
| ivacaftor response - Efficacy | 0 | 1 | 0 | 0 | 0 | 26 | 0 | 26 |
| ADNP-related disorder | 0 | 13 | 0 | 20 | 5 | 0 | 1 | 25 |
| ANKRD1-related dilated cardiomyopathy | 0 | 57 | 0 | 14 | 10 | 0 | 1 | 25 |
| APOB-related disorder | 0 | 47 | 0 | 10 | 14 | 0 | 1 | 25 |
| Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 | 0 | 111 | 0 | 19 | 6 | 0 | 1 | 25 |
| Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 0 | 83 | 0 | 17 | 5 | 0 | 4 | 25 |
| CCDC88C-related disorder | 0 | 32 | 0 | 14 | 12 | 0 | 0 | 25 |
| DST-related disorder | 0 | 31 | 0 | 11 | 15 | 0 | 0 | 25 |
| FOCAD-related disorder | 0 | 78 | 0 | 12 | 12 | 0 | 1 | 25 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 0 | 49 | 0 | 19 | 4 | 0 | 2 | 25 |
| MPDZ-related disorder | 0 | 47 | 0 | 21 | 4 | 0 | 1 | 25 |
| Nephronophthisis 8 | 0 | 26 | 0 | 8 | 17 | 0 | 0 | 25 |
| RET-related disorder | 0 | 55 | 0 | 6 | 18 | 0 | 1 | 25 |
| RTTN-related disorder | 0 | 37 | 0 | 16 | 10 | 0 | 1 | 25 |
| SCN1A-related disorder | 0 | 45 | 0 | 16 | 12 | 0 | 1 | 25 |
| SLC34A3-related disorder | 0 | 22 | 0 | 14 | 11 | 0 | 2 | 25 |
| SMARCA2-related disorder | 0 | 18 | 0 | 22 | 2 | 0 | 1 | 25 |
| Tramadol response | 0 | 0 | 0 | 0 | 0 | 25 | 0 | 25 |
| ABCC8-related disorder | 0 | 51 | 0 | 13 | 9 | 0 | 3 | 24 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 0 | 14 | 0 | 14 | 3 | 0 | 12 | 24 |
| Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome | 0 | 36 | 0 | 10 | 5 | 0 | 11 | 24 |
| DNHD1-related disorder | 0 | 51 | 0 | 21 | 1 | 0 | 2 | 24 |
| DYNC2H1-related disorder | 0 | 21 | 0 | 8 | 15 | 0 | 3 | 24 |
| EBV-positive nodal T- and NK-cell lymphoma | 0 | 14 | 0 | 3 | 18 | 0 | 4 | 24 |
| Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 0 | 75 | 0 | 9 | 9 | 0 | 6 | 24 |
| FAT2-related disorder | 0 | 61 | 0 | 17 | 8 | 0 | 0 | 24 |
| JAG1-related disorder | 0 | 35 | 0 | 3 | 20 | 0 | 1 | 24 |
| KCNT1-related disorder | 0 | 22 | 0 | 18 | 10 | 0 | 0 | 24 |
| NEFH-related disorder | 0 | 64 | 0 | 12 | 13 | 0 | 0 | 24 |
| Neural tube defect | 0 | 25 | 0 | 19 | 4 | 0 | 1 | 24 |
| PTPN11-related disorder | 0 | 38 | 0 | 15 | 4 | 0 | 5 | 24 |
| SZT2-related disorder | 0 | 46 | 0 | 16 | 9 | 0 | 0 | 24 |
| TRIM32-related disorder | 0 | 57 | 0 | 3 | 20 | 0 | 1 | 24 |
| TRIO-related disorder | 0 | 47 | 0 | 21 | 5 | 0 | 1 | 24 |
| VPS13D-related disorder | 0 | 47 | 0 | 20 | 4 | 0 | 0 | 24 |
| COL1A1-related disorder | 0 | 54 | 0 | 11 | 11 | 0 | 2 | 23 |
| ITGB4-related disorder | 0 | 57 | 0 | 14 | 10 | 0 | 0 | 23 |
| MYH6-related disorder | 0 | 61 | 0 | 15 | 9 | 0 | 1 | 23 |
| MYO5B-related disorder | 0 | 109 | 0 | 16 | 7 | 0 | 0 | 23 |
| SRCAP-related disorder | 0 | 36 | 0 | 14 | 10 | 0 | 0 | 23 |
| TAF15-related disorder | 0 | 22 | 0 | 15 | 8 | 0 | 0 | 23 |
| TCOF1-related disorder | 0 | 14 | 0 | 18 | 7 | 0 | 0 | 23 |
| BRAT1-related disorder | 0 | 8 | 0 | 14 | 8 | 0 | 0 | 22 |
| COL17A1-related disorder | 0 | 18 | 0 | 17 | 4 | 0 | 1 | 22 |
| COL5A1-related disorder | 0 | 49 | 0 | 7 | 16 | 0 | 0 | 22 |
| DNAH1-related disorder | 0 | 24 | 0 | 11 | 11 | 0 | 0 | 22 |
| DUOX2-related disorder | 0 | 24 | 0 | 12 | 5 | 0 | 5 | 22 |
| EHMT1-related disorder | 0 | 20 | 0 | 13 | 12 | 0 | 1 | 22 |
| IFT172-related disorder | 0 | 62 | 0 | 5 | 17 | 0 | 0 | 22 |
| LEPR-related disorder | 0 | 26 | 0 | 6 | 15 | 0 | 2 | 22 |
| MAGEL2-related disorder | 0 | 142 | 0 | 2 | 20 | 0 | 0 | 22 |
| OPA1-related disorder | 0 | 27 | 0 | 10 | 15 | 0 | 2 | 22 |
| SLC26A4-related disorder | 0 | 25 | 0 | 16 | 4 | 0 | 4 | 22 |
| SOS1-related disorder | 0 | 18 | 0 | 13 | 11 | 0 | 0 | 22 |
| SPTAN1-related disorder | 0 | 24 | 0 | 18 | 7 | 0 | 1 | 22 |
| Short stature | 0 | 10 | 0 | 2 | 6 | 0 | 14 | 22 |
| TECTA-related disorder | 0 | 23 | 0 | 11 | 12 | 0 | 3 | 22 |
| UGT1A1-related disorder | 0 | 41 | 0 | 12 | 6 | 6 | 9 | 22 |
| VWF-related disorder | 0 | 52 | 0 | 9 | 10 | 0 | 6 | 22 |
| ABCA12-related disorder | 0 | 20 | 0 | 19 | 6 | 0 | 0 | 21 |
| ABCD1-related disorder | 0 | 29 | 0 | 6 | 5 | 0 | 10 | 21 |
| ADAMTSL4-related disorder | 0 | 23 | 0 | 16 | 6 | 0 | 0 | 21 |
| ALPK3-related disorder | 0 | 60 | 0 | 21 | 2 | 0 | 1 | 21 |
| Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency | 0 | 78 | 0 | 11 | 6 | 0 | 5 | 21 |
| COL6A1-related disorder | 0 | 12 | 0 | 8 | 12 | 0 | 1 | 21 |
| DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer | 0 | 22 | 0 | 14 | 7 | 0 | 0 | 21 |
| EYS-related disorder | 0 | 39 | 0 | 16 | 10 | 0 | 0 | 21 |
| FREM1-related disorder | 0 | 40 | 0 | 11 | 10 | 0 | 0 | 21 |
| HERC1-related disorder | 0 | 24 | 0 | 15 | 6 | 0 | 0 | 21 |
| Hematuria | 0 | 16 | 0 | 17 | 1 | 0 | 8 | 21 |
| ITPR1-related disorder | 0 | 43 | 0 | 13 | 10 | 0 | 0 | 21 |
| Inherited MMR deficiency (Lynch syndrome) | 0 | 53 | 0 | 15 | 3 | 0 | 5 | 21 |
| MYO18B-related disorder | 0 | 67 | 0 | 15 | 6 | 0 | 0 | 21 |
| NPHP3-related disorder | 0 | 24 | 0 | 6 | 14 | 0 | 1 | 21 |
| PCLO-related disorder | 0 | 58 | 0 | 16 | 5 | 0 | 0 | 21 |
| PLXNA2-related disorder | 0 | 234 | 0 | 16 | 5 | 0 | 0 | 21 |
| SACS-related disorder | 0 | 22 | 0 | 12 | 11 | 0 | 0 | 21 |
| SERPINA1-related disorder | 0 | 6 | 0 | 3 | 16 | 2 | 1 | 21 |
| SPTA1-related disorder | 0 | 18 | 0 | 11 | 15 | 0 | 1 | 21 |
| VCAN-related disorder | 0 | 57 | 0 | 14 | 8 | 0 | 0 | 21 |
| A2ML1-related disorder | 0 | 50 | 0 | 11 | 10 | 0 | 0 | 20 |
| ABCG5-related disorder | 0 | 18 | 0 | 6 | 15 | 0 | 0 | 20 |
| ADCY3-related disorder | 0 | 39 | 0 | 11 | 8 | 0 | 1 | 20 |
| Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 | 0 | 26 | 0 | 14 | 7 | 0 | 0 | 20 |
| CEP152-related disorder | 0 | 23 | 0 | 18 | 4 | 0 | 0 | 20 |
| CNGB1-related disorder | 0 | 13 | 0 | 10 | 9 | 0 | 1 | 20 |
| COL9A2-related disorder | 0 | 15 | 0 | 7 | 14 | 0 | 0 | 20 |
| COL9A3-related disorder | 0 | 43 | 0 | 11 | 10 | 0 | 0 | 20 |
| Congenital Muscular Dystrophy, alpha-dystroglycan related | 0 | 35 | 0 | 5 | 15 | 0 | 0 | 20 |
| DICER1-related disorder | 0 | 61 | 0 | 9 | 12 | 0 | 0 | 20 |
| DNMT3A-related disorder | 0 | 28 | 0 | 12 | 7 | 0 | 2 | 20 |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 0 | 62 | 0 | 14 | 1 | 0 | 6 | 20 |
| GLI2-related disorder | 0 | 22 | 0 | 11 | 10 | 0 | 0 | 20 |
| Isolated Coronal Synostosis | 0 | 17 | 0 | 14 | 6 | 0 | 0 | 20 |
| KIF1A-related disorder | 0 | 38 | 0 | 11 | 10 | 0 | 1 | 20 |
| LRRK1-related disorder | 0 | 61 | 0 | 20 | 0 | 0 | 0 | 20 |
| NBN-related disorder | 0 | 27 | 1 | 8 | 13 | 0 | 0 | 20 |
| NTRK2-related disorder | 0 | 119 | 0 | 11 | 8 | 0 | 1 | 20 |
| SAMD9L-related disorder | 0 | 55 | 0 | 14 | 5 | 0 | 3 | 20 |
| SLC10A2-related disorder | 0 | 25 | 0 | 3 | 18 | 0 | 0 | 20 |
| TSPEAR-related disorder | 0 | 17 | 0 | 16 | 5 | 0 | 3 | 20 |
| WDR62-related disorder | 0 | 19 | 0 | 12 | 11 | 0 | 0 | 20 |
| ZFHX3-related disorder | 0 | 34 | 0 | 16 | 5 | 0 | 0 | 20 |
| ACE-related disorder | 0 | 27 | 0 | 12 | 5 | 0 | 3 | 19 |
| AGRN-related disorder | 0 | 19 | 0 | 9 | 11 | 0 | 0 | 19 |
| COL4A6-related disorder | 0 | 22 | 0 | 8 | 12 | 0 | 1 | 19 |
| DDX41-related disorder | 0 | 27 | 0 | 10 | 5 | 0 | 5 | 19 |
| DSP-related disorder | 0 | 43 | 0 | 10 | 8 | 0 | 1 | 19 |
| Dermatitis, atopic, 2; Ichthyosis vulgaris | 0 | 10 | 0 | 18 | 1 | 0 | 2 | 19 |
| ERCC2-related disorder | 0 | 14 | 0 | 13 | 6 | 0 | 0 | 19 |
| ERCC6L2-related disorder | 0 | 14 | 0 | 16 | 4 | 0 | 0 | 19 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 0 | 7 | 0 | 2 | 17 | 0 | 0 | 19 |
| FBN2-related disorder | 0 | 52 | 0 | 7 | 12 | 0 | 1 | 19 |
| HNF1B-related disorder | 0 | 29 | 0 | 3 | 16 | 0 | 1 | 19 |
| HSD17B4-related disorder | 0 | 18 | 0 | 7 | 12 | 0 | 3 | 19 |
| Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 0 | 42 | 0 | 13 | 5 | 0 | 3 | 19 |
| MC4R-related disorder | 0 | 30 | 0 | 10 | 2 | 0 | 10 | 19 |
| MED13L-related disorder | 0 | 18 | 0 | 16 | 3 | 0 | 0 | 19 |
| Neurodevelopmental abnormality | 0 | 32 | 0 | 7 | 7 | 0 | 8 | 19 |
| PACS2-related disorder | 0 | 20 | 0 | 17 | 2 | 0 | 0 | 19 |
| PEX6-related disorder | 0 | 25 | 0 | 8 | 12 | 0 | 2 | 19 |
| Renal tubulopathies | 0 | 17 | 0 | 14 | 0 | 0 | 5 | 19 |
| SAMD9-related disorder | 0 | 71 | 0 | 8 | 11 | 0 | 2 | 19 |
| SETD2-related disorder | 0 | 13 | 0 | 17 | 2 | 0 | 0 | 19 |
| SH3TC2-related disorder | 0 | 10 | 0 | 11 | 10 | 0 | 1 | 19 |
| TCIRG1-related disorder | 0 | 28 | 0 | 9 | 11 | 0 | 1 | 19 |
| ALK-related disorder | 0 | 37 | 0 | 5 | 14 | 0 | 0 | 18 |
| ALS2-related disorder | 0 | 30 | 0 | 6 | 13 | 0 | 0 | 18 |
| ANK3-related disorder | 0 | 45 | 0 | 16 | 2 | 0 | 0 | 18 |
| ARHGAP31-related disorder | 0 | 16 | 0 | 8 | 11 | 0 | 0 | 18 |
| ATP1A3-related disorder | 0 | 21 | 0 | 14 | 3 | 0 | 3 | 18 |
| Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency | 0 | 50 | 0 | 13 | 1 | 0 | 6 | 18 |
| C2CD3-related disorder | 0 | 22 | 0 | 12 | 6 | 0 | 0 | 18 |
| COL12A1-related disorder | 0 | 48 | 0 | 9 | 8 | 0 | 1 | 18 |
| COL9A1-related disorder | 0 | 26 | 0 | 8 | 10 | 0 | 1 | 18 |
| Chitotriosidase deficiency | 0 | 7 | 0 | 7 | 16 | 1 | 0 | 18 |
| DMXL2-related disorder | 0 | 42 | 0 | 14 | 4 | 0 | 0 | 18 |
| DNAH7-related disorder | 0 | 17 | 0 | 17 | 1 | 0 | 0 | 18 |
| EXPH5-related disorder | 0 | 15 | 0 | 18 | 0 | 0 | 0 | 18 |
| FGFR3-related disorder | 0 | 65 | 0 | 9 | 9 | 0 | 1 | 18 |
| FH-related disorder | 0 | 29 | 0 | 10 | 8 | 0 | 2 | 18 |
| FLCN-related disorder | 0 | 49 | 0 | 6 | 13 | 0 | 0 | 18 |
| FOXP1-related disorder | 0 | 14 | 0 | 16 | 1 | 0 | 1 | 18 |
| GJB2-related disorder | 0 | 26 | 1 | 14 | 3 | 0 | 2 | 18 |
| KCNMA1-related disorder | 0 | 18 | 0 | 9 | 8 | 0 | 1 | 18 |
| LRRC56-related disorder | 0 | 28 | 0 | 14 | 4 | 0 | 0 | 18 |
| Lynch-like syndrome | 0 | 45 | 0 | 9 | 1 | 0 | 9 | 18 |
| MCPH1-related disorder | 0 | 21 | 0 | 12 | 6 | 0 | 1 | 18 |
| NLRP3-related disorder | 0 | 12 | 0 | 10 | 9 | 0 | 0 | 18 |
| RP1L1-related disorder | 0 | 18 | 0 | 9 | 9 | 0 | 2 | 18 |
| SBF1-related disorder | 0 | 32 | 0 | 11 | 8 | 0 | 1 | 18 |
| SCN2A-related disorder | 0 | 28 | 0 | 14 | 5 | 0 | 1 | 18 |
| SETD5-related disorder | 0 | 25 | 0 | 14 | 3 | 0 | 1 | 18 |
| SI-related disorder | 0 | 17 | 0 | 12 | 7 | 0 | 3 | 18 |
| SLC27A5-related disorder | 0 | 26 | 0 | 6 | 16 | 0 | 0 | 18 |
| Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 | 0 | 17 | 0 | 12 | 6 | 0 | 2 | 18 |
| TRAPPC9-related disorder | 0 | 20 | 0 | 11 | 8 | 0 | 0 | 18 |
| UNC80-related disorder | 0 | 57 | 0 | 15 | 3 | 0 | 0 | 18 |
| ADAMTS13-related disorder | 0 | 18 | 0 | 7 | 8 | 0 | 2 | 17 |
| Aganglionic megacolon | 0 | 8 | 0 | 7 | 6 | 0 | 6 | 17 |
| BLM-related disorder | 0 | 27 | 0 | 8 | 11 | 0 | 0 | 17 |
| CACNA1D-related disorder | 0 | 41 | 0 | 8 | 9 | 0 | 0 | 17 |
| CACNA1S-related disorder | 0 | 23 | 0 | 4 | 12 | 0 | 1 | 17 |
| DGUOK-related disorder | 0 | 18 | 0 | 6 | 12 | 0 | 1 | 17 |
| DNAH11-related disorder | 0 | 17 | 0 | 3 | 13 | 0 | 1 | 17 |
| DVL1-related disorder | 0 | 16 | 0 | 16 | 1 | 0 | 0 | 17 |
| Decreased response to growth hormone stimulation test | 0 | 11 | 0 | 6 | 11 | 0 | 0 | 17 |
| ERCC6-related disorder | 0 | 26 | 0 | 8 | 9 | 0 | 0 | 17 |
| EVC-related disorder | 0 | 7 | 0 | 4 | 13 | 0 | 0 | 17 |
| EVC2-related disorder | 0 | 12 | 0 | 11 | 6 | 0 | 0 | 17 |
| FN1-related disorder | 0 | 25 | 0 | 14 | 4 | 0 | 0 | 17 |
| FUS-related disorder | 0 | 28 | 0 | 8 | 9 | 0 | 0 | 17 |
| GCK-related disorder | 0 | 19 | 0 | 12 | 1 | 0 | 4 | 17 |
| Hirschsprung disease, susceptibility to, 2 | 0 | 8 | 0 | 6 | 12 | 0 | 3 | 17 |
| Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to | 0 | 141 | 0 | 13 | 4 | 0 | 0 | 17 |
| KDM6B-related disorder | 0 | 20 | 0 | 14 | 3 | 0 | 0 | 17 |
| KIT-related disorder | 0 | 28 | 0 | 5 | 14 | 0 | 0 | 17 |
| LDB3-related disorder | 0 | 13 | 0 | 9 | 8 | 0 | 0 | 17 |
| LMNA-related disorder | 0 | 27 | 0 | 8 | 8 | 0 | 3 | 17 |
| LTBP2-related disorder | 0 | 26 | 0 | 11 | 7 | 0 | 0 | 17 |
| MED12-Related Disorders | 0 | 22 | 0 | 11 | 7 | 0 | 1 | 17 |
| MYH11-related disorder | 0 | 41 | 0 | 4 | 13 | 0 | 1 | 17 |
| Malaria, susceptibility to | 0 | 24 | 0 | 11 | 1 | 0 | 5 | 17 |
| NPHP1-related disorder | 0 | 23 | 0 | 1 | 16 | 0 | 0 | 17 |
| NRIP1-related disorder | 0 | 15 | 0 | 10 | 7 | 0 | 0 | 17 |
| NRXN1-related disorder | 0 | 17 | 0 | 7 | 10 | 0 | 2 | 17 |
| PLCE1-related disorder | 0 | 17 | 0 | 8 | 9 | 0 | 1 | 17 |
| POMT1-related disorder | 0 | 7 | 0 | 2 | 14 | 0 | 2 | 17 |
| SEPN1-related disorder | 0 | 20 | 0 | 9 | 8 | 0 | 0 | 17 |
| SLC12A3-related disorder | 0 | 25 | 0 | 12 | 5 | 0 | 1 | 17 |
| SPTBN2-related disorder | 0 | 17 | 0 | 14 | 5 | 0 | 0 | 17 |
| TAF1-related disorder | 0 | 11 | 0 | 16 | 3 | 0 | 0 | 17 |
| TNS2-related disorder | 0 | 24 | 0 | 14 | 4 | 0 | 0 | 17 |
| TYR-related disorder | 0 | 32 | 0 | 12 | 1 | 0 | 5 | 17 |
| VPS33B-related disorder | 0 | 19 | 0 | 5 | 14 | 0 | 0 | 17 |
| WDR35-related disorder | 0 | 9 | 0 | 5 | 12 | 0 | 0 | 17 |
| ACTG1-related disorder | 0 | 15 | 0 | 14 | 2 | 0 | 1 | 16 |
| AKAP9-related disorder | 0 | 13 | 0 | 14 | 4 | 0 | 0 | 16 |
| BARD1-related disorder | 0 | 46 | 0 | 8 | 10 | 0 | 0 | 16 |
| CACNA1G-related disorder | 0 | 22 | 0 | 13 | 3 | 0 | 0 | 16 |
| CAPN3-related disorder | 0 | 14 | 0 | 4 | 8 | 0 | 5 | 16 |
| CNTNAP2-related disorder | 0 | 19 | 0 | 3 | 14 | 0 | 0 | 16 |
| Colorectal cancer, non-polyposis | 0 | 6 | 0 | 2 | 16 | 0 | 0 | 16 |
| DEPDC5-related disorder | 0 | 17 | 0 | 14 | 6 | 0 | 1 | 16 |
| Developmental cataract | 0 | 3 | 0 | 7 | 4 | 0 | 5 | 16 |
| ELN-related disorder | 0 | 18 | 0 | 3 | 11 | 0 | 2 | 16 |
| ELP1-Associated Medulloblastoma | 0 | 6 | 0 | 14 | 1 | 0 | 1 | 16 |
| FANCC-related disorder | 0 | 21 | 0 | 6 | 10 | 0 | 1 | 16 |
| Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 | 0 | 66 | 0 | 9 | 7 | 0 | 0 | 16 |
| GRIN2B-related disorder | 0 | 7 | 0 | 14 | 4 | 0 | 0 | 16 |
| Glutaric acidemia type 2C | 0 | 23 | 0 | 11 | 0 | 0 | 6 | 16 |
| HERC2-related disorder | 0 | 20 | 0 | 10 | 6 | 0 | 0 | 16 |
| Herpes simplex encephalitis, susceptibility to, 1 | 0 | 46 | 0 | 12 | 3 | 0 | 1 | 16 |
| IGSF10-related disorder | 0 | 54 | 0 | 15 | 1 | 0 | 0 | 16 |
| Ichthyosis and erythrokeratoderma | 0 | 7 | 0 | 10 | 0 | 0 | 6 | 16 |
| LAMA3-related disorder | 0 | 33 | 0 | 12 | 6 | 0 | 0 | 16 |
| LDLR-related disorder | 0 | 37 | 0 | 11 | 2 | 0 | 3 | 16 |
| Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | 0 | 17 | 0 | 6 | 8 | 0 | 3 | 16 |
| MAP1B-related disorder | 0 | 23 | 0 | 15 | 0 | 0 | 1 | 16 |
| MET-related disorder | 0 | 45 | 0 | 3 | 15 | 0 | 0 | 16 |
| MUTYH-related disorder | 0 | 38 | 0 | 5 | 10 | 0 | 3 | 16 |
| MYLK-related disorder | 0 | 43 | 0 | 5 | 10 | 0 | 1 | 16 |
| NBEAL2-related disorder | 0 | 15 | 0 | 13 | 6 | 0 | 0 | 16 |
| PDZD7-related disorder | 0 | 7 | 0 | 10 | 5 | 0 | 3 | 16 |
| PTPN23-related disorder | 0 | 20 | 0 | 13 | 4 | 0 | 0 | 16 |
| RERE-related disorder | 0 | 22 | 0 | 11 | 5 | 0 | 0 | 16 |
| RTEL1-related disorder | 0 | 37 | 0 | 6 | 9 | 0 | 1 | 16 |
| SDHA-related disorder | 0 | 45 | 0 | 10 | 4 | 0 | 3 | 16 |
| TUBB1-related disorder | 0 | 6 | 0 | 9 | 5 | 0 | 3 | 16 |
| Transient Neonatal Diabetes, Recessive | 0 | 10 | 0 | 9 | 7 | 0 | 0 | 16 |
| ABCA3-related disorder | 0 | 19 | 0 | 9 | 8 | 0 | 1 | 15 |
| BBS1-related disorder | 0 | 26 | 0 | 4 | 9 | 0 | 2 | 15 |
| BEST1-related disorder | 0 | 16 | 0 | 10 | 6 | 0 | 1 | 15 |
| CACNA1B-related disorder | 0 | 26 | 0 | 10 | 5 | 0 | 1 | 15 |
| CC2D1A-related disorder | 0 | 18 | 0 | 12 | 3 | 0 | 0 | 15 |
| DEAF1-related disorder | 0 | 16 | 0 | 6 | 7 | 0 | 2 | 15 |
| Developmental disorder | 0 | 22 | 0 | 5 | 6 | 0 | 6 | 15 |
| ENG-related disorder | 0 | 16 | 0 | 9 | 3 | 0 | 4 | 15 |
| FGD1-related disorder | 0 | 7 | 0 | 14 | 4 | 0 | 1 | 15 |
| FLG-related disorder | 0 | 15 | 0 | 13 | 1 | 0 | 1 | 15 |
| Familial aortopathy | 0 | 23 | 0 | 12 | 0 | 0 | 4 | 15 |
| GALNT12-related disorder | 0 | 18 | 0 | 9 | 6 | 0 | 0 | 15 |
| GPR179-related disorder | 0 | 22 | 0 | 14 | 2 | 0 | 0 | 15 |
| Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 | 0 | 86 | 0 | 1 | 10 | 0 | 5 | 15 |
| IGF1R-related disorder | 0 | 28 | 0 | 8 | 8 | 0 | 0 | 15 |
| INSR-related disorder | 0 | 15 | 0 | 9 | 8 | 0 | 1 | 15 |
| INVS-related disorder | 0 | 15 | 0 | 2 | 13 | 0 | 0 | 15 |
| IRF2BPL-related disorder | 0 | 6 | 0 | 13 | 2 | 0 | 1 | 15 |
| Inherited polyposis and early onset colorectal cancer - germline testing | 0 | 14 | 0 | 5 | 10 | 0 | 3 | 15 |
| Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 | 0 | 20 | 0 | 9 | 5 | 0 | 1 | 15 |
| KIF1B-related disorder | 0 | 22 | 0 | 8 | 9 | 0 | 0 | 15 |
| LAMB1-related disorder | 0 | 35 | 0 | 8 | 8 | 0 | 0 | 15 |
| LAMC2-related disorder | 0 | 10 | 0 | 12 | 5 | 0 | 0 | 15 |
| MAPKBP1-related disorder | 0 | 12 | 0 | 15 | 0 | 0 | 0 | 15 |
| MAST1-related disorder | 0 | 13 | 0 | 15 | 0 | 0 | 0 | 15 |
| MEFV-related disorder | 0 | 16 | 0 | 7 | 7 | 0 | 4 | 15 |
| Male infertility with azoospermia or oligozoospermia due to single gene mutation | 0 | 5 | 0 | 5 | 1 | 0 | 10 | 15 |
| NEK1-related disorder | 0 | 16 | 0 | 4 | 11 | 0 | 1 | 15 |
| OBSL1-related disorder | 0 | 23 | 0 | 9 | 7 | 0 | 1 | 15 |
| PEX5-related disorder | 0 | 4 | 0 | 1 | 14 | 0 | 0 | 15 |
| RAD50-related disorder | 0 | 23 | 0 | 3 | 11 | 0 | 2 | 15 |
| SNRNP200-related disorder | 0 | 20 | 0 | 11 | 4 | 0 | 0 | 15 |
| TUB-related disorder | 0 | 124 | 0 | 4 | 10 | 0 | 1 | 15 |
| VHL-related disorder | 0 | 20 | 0 | 5 | 9 | 0 | 2 | 15 |
| carboxymethyl-dextran-A2-gadolinium-DOTA | 0 | 12 | 0 | 12 | 4 | 0 | 0 | 15 |
| ACADVL-related disorder | 0 | 19 | 0 | 9 | 1 | 0 | 4 | 14 |
| ACTN1-related disorder | 0 | 11 | 0 | 11 | 2 | 0 | 1 | 14 |
| AGL-related disorder | 0 | 12 | 0 | 6 | 8 | 0 | 0 | 14 |
| ATRX-related disorder | 0 | 21 | 0 | 12 | 3 | 0 | 0 | 14 |
| Abnormality of coagulation | 0 | 4 | 0 | 6 | 2 | 0 | 6 | 14 |
| Abnormality of the skin | 0 | 14 | 0 | 14 | 0 | 0 | 1 | 14 |
| CAD-related disorder | 0 | 29 | 0 | 14 | 1 | 0 | 0 | 14 |
| CDK5RAP2-related disorder | 0 | 25 | 0 | 6 | 8 | 0 | 0 | 14 |
| CHD2-related disorder | 0 | 11 | 0 | 13 | 1 | 0 | 0 | 14 |
| COL1A2-related disorder | 0 | 31 | 0 | 9 | 3 | 0 | 2 | 14 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 | 0 | 52 | 0 | 10 | 2 | 0 | 2 | 14 |
| DCDC2-related disorder | 0 | 5 | 0 | 3 | 11 | 0 | 0 | 14 |
| GALC-related disorder | 0 | 10 | 0 | 8 | 6 | 0 | 1 | 14 |
| GBE1-related disorder | 0 | 8 | 0 | 5 | 4 | 0 | 5 | 14 |
| GPBAR1-related disorder | 0 | 13 | 0 | 1 | 13 | 0 | 0 | 14 |
| HMCN1-related disorder | 0 | 62 | 0 | 12 | 2 | 0 | 0 | 14 |
| IFT140-related disorder | 0 | 26 | 0 | 6 | 8 | 0 | 0 | 14 |
| IFT74-related disorder | 0 | 109 | 0 | 9 | 3 | 0 | 2 | 14 |
| ITPR3-related disorder | 0 | 40 | 0 | 14 | 0 | 0 | 0 | 14 |
| Inherited Immunodeficiency Diseases | 0 | 17 | 0 | 11 | 0 | 1 | 5 | 14 |
| KANK1-related disorder | 0 | 40 | 0 | 6 | 8 | 0 | 0 | 14 |
| MBD5-related disorder | 0 | 11 | 0 | 8 | 8 | 0 | 0 | 14 |
| MECOM-related disorder | 0 | 14 | 0 | 9 | 5 | 0 | 0 | 14 |
| NEXMIF-related disorder | 0 | 7 | 0 | 14 | 1 | 0 | 0 | 14 |
| NPHS1-related disorder | 0 | 29 | 0 | 6 | 8 | 0 | 0 | 14 |
| PEX14-related disorder | 0 | 6 | 0 | 1 | 13 | 0 | 0 | 14 |
| PNPT1-related disorder | 0 | 17 | 0 | 8 | 5 | 0 | 2 | 14 |
| POGZ-related disorder | 0 | 8 | 0 | 10 | 3 | 0 | 1 | 14 |
| RAD51C-related disorder | 0 | 25 | 0 | 8 | 5 | 0 | 1 | 14 |
| RREB1-related disorder | 0 | 21 | 0 | 14 | 0 | 0 | 0 | 14 |
| Rare genetic intellectual disability | 0 | 11 | 0 | 10 | 2 | 0 | 2 | 14 |
| SDCCAG8-related disorder | 0 | 15 | 0 | 6 | 8 | 0 | 0 | 14 |
| SLC4A1-related disorder | 0 | 12 | 0 | 11 | 5 | 0 | 1 | 14 |
| SOX10-related disorder | 0 | 7 | 0 | 10 | 5 | 0 | 1 | 14 |
| Sulfate transporter-related osteochondrodysplasia | 0 | 22 | 0 | 9 | 5 | 0 | 0 | 14 |
| TG-related disorder | 0 | 32 | 0 | 11 | 2 | 0 | 2 | 14 |
| TRPM1-related disorder | 0 | 25 | 0 | 9 | 7 | 0 | 0 | 14 |
| UMOD-related disorder | 0 | 11 | 0 | 9 | 6 | 0 | 4 | 14 |
| ZNF335-related disorder | 0 | 12 | 0 | 11 | 3 | 0 | 1 | 14 |
| ANK1-related disorder | 0 | 19 | 0 | 5 | 8 | 0 | 0 | 13 |
| Albinism or congenital nystagmus | 0 | 7 | 0 | 10 | 2 | 1 | 4 | 13 |
| Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 0 | 24 | 0 | 5 | 9 | 0 | 0 | 13 |
| C6-related disorder | 0 | 8 | 0 | 12 | 1 | 0 | 1 | 13 |
| CDHR1-related disorder | 0 | 16 | 0 | 7 | 5 | 0 | 2 | 13 |
| CDK13-related disorder | 0 | 22 | 0 | 8 | 3 | 0 | 2 | 13 |
| CDKN1B-related disorder | 0 | 10 | 0 | 5 | 10 | 0 | 0 | 13 |
| CENPF-related disorder | 0 | 17 | 0 | 6 | 7 | 0 | 0 | 13 |
| CFB-related disorder | 0 | 10 | 0 | 12 | 1 | 0 | 0 | 13 |
| CHD4-related disorder | 0 | 23 | 0 | 7 | 5 | 0 | 1 | 13 |
| CIT-related disorder | 0 | 21 | 0 | 9 | 4 | 0 | 0 | 13 |
| CLCN1-related disorder | 0 | 15 | 0 | 7 | 4 | 0 | 3 | 13 |
| COL5A2-related disorder | 0 | 23 | 0 | 3 | 10 | 0 | 0 | 13 |
| CTNNA1-related disorder | 0 | 51 | 0 | 8 | 3 | 0 | 2 | 13 |
| CUL7-related disorder | 0 | 18 | 0 | 6 | 8 | 0 | 0 | 13 |
| Childhood onset hearing loss | 0 | 11 | 0 | 1 | 9 | 0 | 3 | 13 |
| DCTN1-related disorder | 0 | 34 | 0 | 6 | 7 | 0 | 0 | 13 |
| DOK7-related disorder | 0 | 16 | 0 | 7 | 5 | 0 | 1 | 13 |
| EPG5-related disorder | 0 | 19 | 0 | 11 | 4 | 0 | 0 | 13 |
| ERBIN-related disorder | 0 | 32 | 0 | 8 | 5 | 0 | 0 | 13 |
| FGFR1-related disorder | 0 | 21 | 0 | 8 | 6 | 0 | 0 | 13 |
| Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 | 0 | 41 | 0 | 10 | 0 | 0 | 3 | 13 |
| GANAB-related disorder | 0 | 12 | 0 | 6 | 8 | 0 | 0 | 13 |
| HBB-related disorder | 0 | 19 | 0 | 8 | 4 | 0 | 2 | 13 |
| HCN4-related disorder | 0 | 16 | 0 | 6 | 9 | 0 | 1 | 13 |
| HPS1-related disorder | 0 | 26 | 0 | 4 | 9 | 0 | 0 | 13 |
| HPS4-related disorder | 0 | 12 | 0 | 5 | 8 | 0 | 0 | 13 |
| Hypophosphataemia or rickets | 0 | 13 | 0 | 11 | 1 | 0 | 2 | 13 |
| KATNIP-related disorder | 0 | 28 | 0 | 11 | 2 | 0 | 0 | 13 |
| KIAA0586-related disorder | 0 | 12 | 0 | 6 | 7 | 0 | 0 | 13 |
| KIF5A-related disorder | 0 | 15 | 0 | 9 | 6 | 0 | 0 | 13 |
| KMT2E-related disorder | 0 | 30 | 0 | 9 | 4 | 0 | 0 | 13 |
| KRT10-related disorder | 0 | 8 | 0 | 9 | 4 | 0 | 0 | 13 |
| KRT5-related disorder | 0 | 11 | 0 | 10 | 1 | 0 | 3 | 13 |
| Long telomere syndrome | 0 | 3 | 0 | 4 | 0 | 0 | 10 | 13 |
| MUC16-related disorder | 0 | 42 | 0 | 13 | 0 | 0 | 0 | 13 |
| Migalastat response | 0 | 0 | 0 | 0 | 0 | 13 | 0 | 13 |
| Monogenic short statue | 0 | 19 | 0 | 8 | 4 | 0 | 2 | 13 |
| NALCN-related disorder | 0 | 30 | 0 | 7 | 6 | 0 | 0 | 13 |
| NEBL-related disorder | 0 | 19 | 0 | 10 | 4 | 0 | 0 | 13 |
| Neonatal insulin-dependent diabetes mellitus | 0 | 4 | 0 | 9 | 4 | 0 | 1 | 13 |
| PKD2-related disorder | 0 | 25 | 0 | 8 | 4 | 0 | 1 | 13 |
| PRDM16-related disorder | 0 | 31 | 0 | 9 | 4 | 0 | 0 | 13 |
| RIN2-related disorder | 0 | 20 | 0 | 7 | 5 | 0 | 1 | 13 |
| SCN4A-related disorder | 0 | 20 | 0 | 6 | 8 | 0 | 0 | 13 |
| SCN8A-related disorder | 0 | 27 | 0 | 6 | 8 | 0 | 2 | 13 |
| SLX4-related disorder | 0 | 19 | 0 | 4 | 8 | 0 | 1 | 13 |
| SMARCAL1-related disorder | 0 | 4 | 0 | 1 | 11 | 0 | 1 | 13 |
| SPG11-related disorder | 0 | 22 | 0 | 8 | 6 | 0 | 1 | 13 |
| TCF3-related disorder | 0 | 35 | 0 | 11 | 2 | 0 | 0 | 13 |
| VPS13A-related disorder | 0 | 28 | 0 | 9 | 6 | 0 | 0 | 13 |
| ZEB2-related disorder | 0 | 6 | 0 | 11 | 2 | 0 | 0 | 13 |
| ADGRG1-related disorder | 0 | 12 | 0 | 7 | 5 | 0 | 0 | 12 |
| AEBP1-related disorder | 0 | 21 | 0 | 10 | 2 | 0 | 0 | 12 |
| ANXA11-related disorder | 0 | 44 | 0 | 12 | 0 | 0 | 0 | 12 |
| AR-related disorder | 0 | 9 | 0 | 9 | 3 | 0 | 1 | 12 |
| Abnormality of the eye | 0 | 12 | 0 | 8 | 0 | 0 | 4 | 12 |
| Acute rhabdomyolysis | 0 | 11 | 0 | 9 | 1 | 0 | 5 | 12 |
| BBS12-related disorder | 0 | 20 | 0 | 4 | 7 | 0 | 2 | 12 |
| CDKN1C-related disorder | 0 | 8 | 0 | 4 | 8 | 0 | 0 | 12 |
| CELSR1-related disorder | 0 | 22 | 0 | 11 | 2 | 0 | 0 | 12 |
| COQ8A-related disorder | 0 | 19 | 0 | 9 | 4 | 0 | 0 | 12 |
| CPT2-related disorder | 0 | 10 | 0 | 6 | 6 | 0 | 2 | 12 |
| Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to | 0 | 44 | 0 | 5 | 2 | 0 | 5 | 12 |
| DNAH17-related disorder | 0 | 80 | 0 | 12 | 0 | 0 | 0 | 12 |
| DNAH5-related disorder | 0 | 26 | 0 | 3 | 9 | 0 | 0 | 12 |
| DYRK1B-related disorder | 0 | 44 | 0 | 9 | 3 | 0 | 0 | 12 |
| Deafness | 0 | 10 | 0 | 10 | 0 | 0 | 4 | 12 |
| ENPP1-related disorder | 0 | 20 | 0 | 7 | 5 | 0 | 1 | 12 |
| EPHB4-related disorder | 0 | 10 | 0 | 9 | 2 | 0 | 3 | 12 |
| F8-related disorder | 0 | 11 | 0 | 7 | 0 | 0 | 5 | 12 |
| FAM20C-related disorder | 0 | 9 | 0 | 7 | 4 | 0 | 1 | 12 |
| FBLN1-related disorder | 0 | 7 | 0 | 8 | 4 | 0 | 0 | 12 |
| FMN1-related disorder | 0 | 16 | 0 | 9 | 3 | 0 | 0 | 12 |
| HNF4A-related disorder | 0 | 8 | 0 | 8 | 1 | 0 | 5 | 12 |
| IGHMBP2-related disorder | 0 | 7 | 0 | 9 | 5 | 0 | 0 | 12 |
| Inherited prion disease | 0 | 10 | 0 | 11 | 1 | 0 | 0 | 12 |
| KCNQ2-Related Disorders | 0 | 32 | 0 | 9 | 1 | 0 | 3 | 12 |
| KIF7-related disorder | 0 | 15 | 0 | 4 | 8 | 0 | 0 | 12 |
| LRP1B-related disorder | 0 | 23 | 0 | 12 | 0 | 0 | 0 | 12 |
| MAP2K2-related disorder | 0 | 13 | 0 | 9 | 3 | 0 | 0 | 12 |
| MKKS-related disorder | 0 | 17 | 0 | 4 | 5 | 0 | 4 | 12 |
| MYO3A-related disorder | 0 | 10 | 0 | 9 | 3 | 0 | 0 | 12 |
| Marfanoid habitus and intellectual disability | 0 | 3 | 0 | 10 | 1 | 1 | 3 | 12 |
| Myocardial infarction, susceptibility to; Congenital factor VII deficiency | 0 | 10 | 0 | 10 | 1 | 1 | 1 | 12 |
| PHEX-related disorder | 0 | 9 | 0 | 10 | 1 | 0 | 2 | 12 |
| PIEZO2-related disorder | 0 | 14 | 0 | 11 | 4 | 0 | 0 | 12 |
| PLXNA3-related disorder | 0 | 51 | 0 | 9 | 3 | 0 | 0 | 12 |
| PNKP-related disorder | 0 | 8 | 0 | 3 | 7 | 0 | 2 | 12 |
| POMC-related disorder | 0 | 24 | 0 | 4 | 7 | 0 | 4 | 12 |
| Proline dehydrogenase deficiency; Schizophrenia 4 | 0 | 6 | 0 | 5 | 4 | 0 | 3 | 12 |
| RAF1-related disorder | 0 | 11 | 0 | 12 | 4 | 0 | 0 | 12 |
| REST-related disorder | 0 | 31 | 0 | 10 | 3 | 0 | 0 | 12 |
| ROBO1-related disorder | 0 | 23 | 0 | 10 | 3 | 0 | 0 | 12 |
| SALL1-related disorder | 0 | 14 | 0 | 10 | 2 | 0 | 0 | 12 |
| SCN10A-related disorder | 0 | 14 | 0 | 4 | 8 | 0 | 0 | 12 |
| SCN9A-related disorder | 0 | 13 | 0 | 3 | 9 | 0 | 0 | 12 |
| SKIC3-related disorder | 0 | 23 | 0 | 7 | 5 | 0 | 0 | 12 |
| SLC10A1-related disorder | 0 | 5 | 0 | 0 | 8 | 0 | 4 | 12 |
| SMCHD1-related disorder | 0 | 4 | 0 | 6 | 7 | 0 | 0 | 12 |
| SPECC1L-related disorder | 0 | 17 | 0 | 10 | 3 | 0 | 0 | 12 |
| SYNE4-related disorder | 0 | 5 | 0 | 8 | 6 | 0 | 1 | 12 |
| TBCD-related disorder | 0 | 22 | 0 | 6 | 5 | 0 | 1 | 12 |
| TERT-related disorder | 0 | 49 | 0 | 1 | 9 | 0 | 2 | 12 |
| TGM6-related disorder | 0 | 6 | 0 | 12 | 0 | 0 | 0 | 12 |
| TNC-related disorder | 0 | 20 | 0 | 10 | 2 | 0 | 0 | 12 |
| TRPV4-related disorder | 0 | 8 | 0 | 10 | 2 | 0 | 0 | 12 |
| WHRN-related disorder | 0 | 11 | 0 | 6 | 7 | 0 | 0 | 12 |
| fluorouracil response - Toxicity | 0 | 1 | 0 | 0 | 0 | 12 | 0 | 12 |
| ABCA1-related disorder | 0 | 18 | 0 | 9 | 2 | 0 | 0 | 11 |
| ACACA-related disorder | 0 | 19 | 0 | 10 | 2 | 0 | 0 | 11 |
| ACACB-related disorder | 0 | 22 | 0 | 6 | 5 | 0 | 0 | 11 |
| ACAD9-related disorder | 0 | 21 | 0 | 6 | 5 | 0 | 1 | 11 |
| ACTN2-related disorder | 0 | 11 | 0 | 6 | 5 | 0 | 1 | 11 |
| ADCY10-related disorder | 0 | 13 | 0 | 7 | 4 | 0 | 0 | 11 |
| AMER1-related disorder | 0 | 5 | 0 | 10 | 1 | 0 | 0 | 11 |
| ANO5-related disorder | 0 | 9 | 0 | 5 | 5 | 0 | 1 | 11 |
| Abnormality of neuronal migration | 0 | 4 | 0 | 10 | 3 | 0 | 0 | 11 |
| BAAT-related disorder | 0 | 6 | 0 | 2 | 10 | 0 | 0 | 11 |
| BAP1-related disorder | 0 | 32 | 0 | 4 | 7 | 0 | 0 | 11 |
| BNC2-related disorder | 0 | 9 | 0 | 10 | 1 | 0 | 0 | 11 |
| Breast cancer, susceptibility to | 0 | 10 | 3 | 5 | 1 | 0 | 4 | 11 |
| CACNA1F-related disorder | 0 | 25 | 0 | 5 | 5 | 0 | 1 | 11 |
| CASR-related disorder | 0 | 16 | 0 | 5 | 4 | 0 | 3 | 11 |
| CDAN1-related disorder | 0 | 19 | 0 | 7 | 5 | 0 | 1 | 11 |
| CDH2-related disorder | 0 | 17 | 0 | 10 | 1 | 0 | 0 | 11 |
| CFAP410-related disorder | 0 | 30 | 0 | 7 | 4 | 0 | 0 | 11 |
| CHRNE-related disorder | 0 | 5 | 0 | 5 | 4 | 0 | 3 | 11 |
| CIC-related disorder | 0 | 29 | 0 | 8 | 3 | 0 | 0 | 11 |
| COL27A1-related disorder | 0 | 24 | 0 | 10 | 1 | 0 | 0 | 11 |
| DNAH2-related disorder | 0 | 37 | 0 | 11 | 0 | 0 | 0 | 11 |
| DNAJC21-related disorder | 0 | 14 | 0 | 8 | 2 | 0 | 1 | 11 |
| DPYD-related disorder | 0 | 9 | 0 | 3 | 3 | 0 | 5 | 11 |
| ERMARD-related disorder | 0 | 11 | 0 | 9 | 3 | 0 | 0 | 11 |
| ESPN-related disorder | 0 | 10 | 0 | 6 | 5 | 0 | 0 | 11 |
| F7-related disorder | 0 | 9 | 0 | 5 | 3 | 1 | 2 | 11 |
| FAN1-related disorder | 0 | 19 | 0 | 9 | 2 | 0 | 0 | 11 |
| FKTN-related disorder | 0 | 5 | 0 | 2 | 9 | 0 | 1 | 11 |
| FSIP2-related disorder | 0 | 13 | 0 | 5 | 6 | 0 | 0 | 11 |
| GGCX-related disorder | 0 | 10 | 0 | 11 | 0 | 0 | 0 | 11 |
| GLA-related disorder | 0 | 9 | 0 | 4 | 6 | 0 | 5 | 11 |
| GREB1L-related disorder | 0 | 27 | 0 | 8 | 4 | 0 | 0 | 11 |
| Global developmental delay; Brain atrophy | 0 | 0 | 0 | 0 | 1 | 0 | 10 | 11 |
| HDAC4-related disorder | 0 | 12 | 0 | 7 | 4 | 0 | 0 | 11 |
| Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 0 | 72 | 0 | 5 | 6 | 0 | 1 | 11 |
| IFIH1-related disorder | 0 | 16 | 0 | 7 | 4 | 0 | 0 | 11 |
| INPP5E-related disorder | 0 | 29 | 0 | 6 | 4 | 0 | 1 | 11 |
| Inherited phaeochromocytoma and paraganglioma excluding NF1 | 0 | 17 | 0 | 7 | 1 | 0 | 4 | 11 |
| KCNH1-related disorder | 0 | 16 | 0 | 6 | 6 | 0 | 0 | 11 |
| LAMB3-related disorder | 0 | 17 | 0 | 8 | 3 | 0 | 0 | 11 |
| LARS2-related disorder | 0 | 14 | 0 | 9 | 2 | 0 | 0 | 11 |
| LIFR-related disorder | 0 | 9 | 0 | 6 | 5 | 0 | 0 | 11 |
| LPL-related disorder | 0 | 12 | 0 | 9 | 2 | 1 | 1 | 11 |
| MLH3-related disorder | 0 | 9 | 0 | 9 | 4 | 0 | 0 | 11 |
| MTHFR-related disorder | 0 | 4 | 0 | 5 | 6 | 2 | 0 | 11 |
| MYH7B-related disorder | 0 | 30 | 0 | 8 | 4 | 0 | 0 | 11 |
| Macrothrombocytopenia | 0 | 12 | 0 | 2 | 2 | 0 | 7 | 11 |
| Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 0 | 9 | 0 | 10 | 0 | 0 | 2 | 11 |
| NEDD4L-related disorder | 0 | 14 | 0 | 10 | 1 | 0 | 0 | 11 |
| NOD2-related disorder | 0 | 13 | 0 | 2 | 9 | 0 | 0 | 11 |
| NTHL1-related disorder | 0 | 34 | 0 | 4 | 7 | 0 | 2 | 11 |
| Non-obstructive azoospermia | 0 | 3 | 0 | 4 | 5 | 0 | 2 | 11 |
| Obstructive azoospermia | 0 | 3 | 0 | 5 | 2 | 0 | 7 | 11 |
| Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome | 0 | 23 | 0 | 5 | 1 | 0 | 5 | 11 |
| PACS1-related disorder | 0 | 4 | 0 | 10 | 1 | 0 | 0 | 11 |
| PCSK1-related disorder | 0 | 39 | 0 | 3 | 6 | 0 | 2 | 11 |
| PDGFRA-related disorder | 0 | 31 | 0 | 0 | 11 | 0 | 0 | 11 |
| PEX13-related disorder | 0 | 7 | 0 | 1 | 9 | 0 | 1 | 11 |
| PKLR-related disorder | 0 | 9 | 0 | 5 | 4 | 0 | 4 | 11 |
| PKP2-related disorder | 0 | 22 | 0 | 7 | 2 | 0 | 2 | 11 |
| PLEKHG5-related disorder | 0 | 11 | 0 | 5 | 6 | 0 | 0 | 11 |
| PPARG-related disorder | 0 | 29 | 0 | 8 | 3 | 0 | 0 | 11 |
| PUS1-related disorder | 0 | 8 | 0 | 8 | 3 | 0 | 0 | 11 |
| Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to | 0 | 37 | 0 | 4 | 7 | 0 | 0 | 11 |
| SEMA3A-related disorder | 0 | 40 | 0 | 2 | 9 | 0 | 0 | 11 |
| SETD1B-related disorder | 0 | 29 | 0 | 8 | 3 | 0 | 0 | 11 |
| SIPA1L3-related disorder | 0 | 9 | 0 | 10 | 1 | 0 | 0 | 11 |
| SLC25A13-related disorder | 0 | 11 | 0 | 1 | 10 | 0 | 0 | 11 |
| SORL1-related disorder | 0 | 15 | 0 | 11 | 0 | 0 | 0 | 11 |
| SPG7-related disorder | 0 | 16 | 0 | 5 | 3 | 0 | 3 | 11 |
| TBC1D24-related disorder | 0 | 20 | 0 | 7 | 4 | 0 | 1 | 11 |
| TMEM43-related disorder | 0 | 11 | 0 | 5 | 6 | 0 | 0 | 11 |
| TMEM67-related disorder | 0 | 21 | 0 | 8 | 4 | 0 | 0 | 11 |
| TMPRSS3-related disorder | 0 | 9 | 0 | 8 | 2 | 0 | 2 | 11 |
| TOP2B-related disorder | 0 | 11 | 0 | 9 | 2 | 0 | 0 | 11 |
| TREX1-related disorder | 0 | 8 | 0 | 8 | 2 | 0 | 1 | 11 |
| TTC21B-related disorder | 0 | 27 | 0 | 1 | 10 | 0 | 0 | 11 |
| TUBB3-related disorder | 0 | 9 | 0 | 9 | 4 | 0 | 0 | 11 |
| TUBGCP6-related disorder | 0 | 44 | 0 | 8 | 3 | 0 | 0 | 11 |
| Thoracic aortic aneurysm or dissection | 0 | 13 | 0 | 7 | 0 | 0 | 4 | 11 |
| UNC13A-related disorder | 0 | 17 | 0 | 8 | 2 | 0 | 1 | 11 |
| VARS2-related disorder | 0 | 6 | 0 | 9 | 2 | 0 | 2 | 11 |
| VCP-related disorder | 0 | 5 | 0 | 8 | 5 | 0 | 0 | 11 |
| VIPAS39-related disorder | 0 | 9 | 0 | 3 | 9 | 0 | 0 | 11 |
| ZNF407-related disorder | 0 | 16 | 0 | 10 | 1 | 0 | 0 | 11 |
| ZSWIM6-related disorder | 0 | 15 | 0 | 11 | 0 | 0 | 0 | 11 |
| AARS2-related disorder | 0 | 8 | 0 | 8 | 3 | 0 | 0 | 10 |
| ABCC9-related disorder | 0 | 16 | 0 | 7 | 2 | 0 | 2 | 10 |
| ADAMTS2-related disorder | 0 | 17 | 0 | 2 | 8 | 0 | 0 | 10 |
| AIP-related disorder | 0 | 13 | 0 | 2 | 9 | 0 | 0 | 10 |
| ANLN-related disorder | 0 | 12 | 0 | 5 | 5 | 0 | 0 | 10 |
| AP3D1-related disorder | 0 | 29 | 0 | 4 | 6 | 0 | 0 | 10 |
| ARFGEF2-related disorder | 0 | 19 | 0 | 7 | 4 | 0 | 0 | 10 |
| ATP7A-related disorder | 0 | 17 | 0 | 5 | 6 | 0 | 0 | 10 |
| BLTP1-related disorder | 0 | 18 | 0 | 5 | 5 | 0 | 0 | 10 |
| BMPR1A-related disorder | 0 | 9 | 0 | 4 | 7 | 0 | 0 | 10 |
| BRAF-related disorder | 0 | 19 | 0 | 9 | 3 | 0 | 0 | 10 |
| BRSK2-related disorder | 0 | 11 | 0 | 8 | 2 | 0 | 0 | 10 |
| Bilateral sensorineural hearing impairment | 0 | 12 | 0 | 7 | 2 | 0 | 1 | 10 |
| CARD14-related disorder | 0 | 7 | 0 | 8 | 1 | 0 | 1 | 10 |
| CARMIL2-related disorder | 0 | 23 | 0 | 8 | 3 | 0 | 0 | 10 |
| CAV3-related disorder | 0 | 4 | 0 | 9 | 6 | 0 | 0 | 10 |
| CD36-related disorder | 0 | 3 | 0 | 4 | 3 | 0 | 5 | 10 |
| CEP164-related disorder | 0 | 20 | 0 | 3 | 6 | 0 | 2 | 10 |
| CEP250-related disorder | 0 | 23 | 0 | 8 | 2 | 0 | 0 | 10 |
| CHRNA4-related disorder | 0 | 5 | 0 | 5 | 7 | 0 | 0 | 10 |
| CLCN4-related disorder | 0 | 13 | 0 | 8 | 0 | 0 | 2 | 10 |
| COMP-related disorder | 0 | 7 | 0 | 9 | 1 | 0 | 0 | 10 |
| CTDP1-related disorder | 0 | 17 | 0 | 6 | 4 | 0 | 0 | 10 |
| CTR9-related disorder | 0 | 14 | 0 | 7 | 3 | 0 | 0 | 10 |
| CUX2-related disorder | 0 | 20 | 0 | 9 | 1 | 0 | 0 | 10 |
| Colorectal cancer, susceptibility to | 0 | 4 | 1 | 1 | 5 | 0 | 5 | 10 |
| Complement component 9 deficiency; Age related macular degeneration 15 | 0 | 1 | 0 | 6 | 3 | 0 | 1 | 10 |
| DAG1-related disorder | 0 | 6 | 0 | 4 | 6 | 0 | 0 | 10 |
| DDX3X-related disorder | 0 | 5 | 0 | 8 | 1 | 0 | 1 | 10 |
| DLL1-related disorder | 0 | 16 | 0 | 8 | 4 | 0 | 0 | 10 |
| DSG2-related disorder | 0 | 14 | 0 | 8 | 3 | 0 | 0 | 10 |
| EPS8-related disorder | 0 | 11 | 0 | 6 | 5 | 0 | 0 | 10 |
| F5-related disorder | 0 | 6 | 0 | 5 | 4 | 0 | 1 | 10 |
| FCSK-related disorder | 0 | 34 | 0 | 9 | 1 | 0 | 0 | 10 |
| FKRP-related disorder | 0 | 4 | 0 | 3 | 7 | 0 | 1 | 10 |
| FMN2-related disorder | 0 | 74 | 0 | 8 | 2 | 0 | 0 | 10 |
| GFM1-related disorder | 0 | 9 | 0 | 8 | 3 | 0 | 0 | 10 |
| GLDC-related disorder | 0 | 19 | 0 | 8 | 2 | 0 | 0 | 10 |
| GLIS3-related disorder | 0 | 7 | 0 | 7 | 4 | 0 | 0 | 10 |
| GUCY2D-related disorder | 0 | 3 | 0 | 1 | 9 | 0 | 0 | 10 |
| INF2-related disorder | 0 | 20 | 0 | 10 | 0 | 0 | 0 | 10 |
| Iron accumulation in brain | 0 | 16 | 0 | 5 | 2 | 0 | 3 | 10 |
| KCNH2-related disorder | 0 | 16 | 0 | 5 | 3 | 0 | 2 | 10 |
| KCNV2-related disorder | 0 | 13 | 0 | 8 | 3 | 0 | 2 | 10 |
| KDM5C-related disorder | 0 | 6 | 0 | 9 | 0 | 0 | 1 | 10 |
| KIAA1549-related disorder | 0 | 24 | 0 | 7 | 3 | 0 | 0 | 10 |
| KIF11-related disorder | 0 | 15 | 0 | 10 | 0 | 0 | 0 | 10 |
| KIF23-related disorder | 0 | 9 | 0 | 7 | 4 | 0 | 0 | 10 |
| KSR2-related disorder | 0 | 53 | 0 | 7 | 3 | 0 | 0 | 10 |
| LIPA-related disorder | 0 | 8 | 0 | 1 | 9 | 0 | 0 | 10 |
| LRP4-related disorder | 0 | 13 | 0 | 3 | 7 | 0 | 0 | 10 |
| LRRK2-related disorder | 0 | 5 | 0 | 10 | 1 | 0 | 0 | 10 |
| LTBP4-related disorder | 0 | 20 | 0 | 7 | 3 | 0 | 0 | 10 |
| MAGI2-related disorder | 0 | 14 | 0 | 8 | 4 | 0 | 0 | 10 |
| MAPT-related disorder | 0 | 9 | 0 | 6 | 6 | 0 | 1 | 10 |
| MMUT-related disorder | 0 | 14 | 0 | 6 | 4 | 0 | 0 | 10 |
| MRE11-related disorder | 0 | 8 | 0 | 5 | 5 | 0 | 0 | 10 |
| MRTFA-related disorder | 0 | 19 | 0 | 8 | 2 | 0 | 0 | 10 |
| MYH2-related disorder | 0 | 11 | 0 | 5 | 4 | 0 | 1 | 10 |
| MYH8-related disorder | 0 | 5 | 0 | 8 | 2 | 0 | 0 | 10 |
| Malignant hypothermia | 0 | 2 | 0 | 3 | 5 | 0 | 2 | 10 |
| Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 | 0 | 9 | 0 | 6 | 0 | 0 | 4 | 10 |
| NARS2-related disorder | 0 | 2 | 0 | 5 | 4 | 0 | 1 | 10 |
| NFIA-Related Disorder | 0 | 7 | 0 | 9 | 1 | 0 | 0 | 10 |
| NIN-related disorder | 0 | 16 | 0 | 5 | 5 | 0 | 0 | 10 |
| NLRP1-related disorder | 0 | 29 | 0 | 5 | 5 | 0 | 0 | 10 |
| NSDHL-related disorder | 0 | 4 | 0 | 10 | 1 | 0 | 0 | 10 |
| NUP133-related disorder | 0 | 15 | 0 | 10 | 0 | 0 | 0 | 10 |
| OPHN1-related disorder | 0 | 0 | 0 | 9 | 2 | 0 | 0 | 10 |
| ORC1-related disorder | 0 | 5 | 0 | 9 | 0 | 0 | 1 | 10 |
| OTOA-related disorder | 0 | 8 | 0 | 6 | 2 | 0 | 2 | 10 |
| PCSK9-related disorder | 0 | 3 | 0 | 6 | 2 | 0 | 2 | 10 |
| PDE11A-related disorder | 0 | 5 | 0 | 7 | 4 | 0 | 0 | 10 |
| PITX2-Related Eye Abnormalities | 0 | 3 | 0 | 7 | 2 | 0 | 1 | 10 |
| POMGNT1-related disorder | 0 | 3 | 0 | 4 | 7 | 0 | 0 | 10 |
| PROM1-related disorder | 0 | 20 | 0 | 7 | 4 | 0 | 0 | 10 |
| PYCR1-related disorder | 0 | 8 | 0 | 6 | 2 | 0 | 2 | 10 |
| Predisposition to cancer | 0 | 19 | 0 | 4 | 4 | 0 | 3 | 10 |
| RAB3GAP1-related disorder | 0 | 16 | 0 | 9 | 1 | 0 | 0 | 10 |
| RASA1-related disorder | 0 | 5 | 0 | 7 | 2 | 0 | 1 | 10 |
| RHOBTB2-related disorder | 0 | 18 | 0 | 5 | 4 | 0 | 1 | 10 |
| RNF43-related disorder | 0 | 10 | 0 | 8 | 2 | 0 | 1 | 10 |
| ROR2-related disorder | 0 | 16 | 0 | 4 | 6 | 0 | 1 | 10 |
| Respiratory ciliopathies including non-CF bronchiectasis | 0 | 11 | 0 | 7 | 0 | 0 | 4 | 10 |
| SAMD11-related disorder | 0 | 30 | 0 | 10 | 0 | 0 | 0 | 10 |
| SH3PXD2B-related disorder | 0 | 11 | 0 | 6 | 5 | 0 | 0 | 10 |
| SLC2A1-related disorder | 0 | 10 | 0 | 2 | 7 | 0 | 1 | 10 |
| SLC45A2-related disorder | 0 | 4 | 0 | 6 | 1 | 0 | 6 | 10 |
| SPTBN4-related disorder | 0 | 19 | 0 | 9 | 1 | 0 | 0 | 10 |
| SYNGAP1-related disorder | 0 | 15 | 0 | 10 | 0 | 0 | 0 | 10 |
| TBCE-related disorder | 0 | 10 | 0 | 6 | 5 | 0 | 0 | 10 |
| TBXAS1-related disorder | 0 | 7 | 0 | 7 | 4 | 0 | 1 | 10 |
| TGFBR2-related disorder | 0 | 14 | 0 | 3 | 5 | 0 | 2 | 10 |
| TGM1-related disorder | 0 | 15 | 0 | 9 | 2 | 0 | 1 | 10 |
| TNNI3K-related disorder | 0 | 17 | 0 | 6 | 3 | 0 | 1 | 10 |
| TRAP1-related disorder | 0 | 13 | 0 | 5 | 8 | 0 | 0 | 10 |
| TRIM28-related disorder | 0 | 10 | 0 | 9 | 1 | 0 | 0 | 10 |
| UBR4-related disorder | 0 | 40 | 0 | 10 | 0 | 0 | 0 | 10 |
| USP9X-related disorder | 0 | 14 | 0 | 9 | 1 | 0 | 0 | 10 |
| VCL-related disorder | 0 | 5 | 0 | 6 | 3 | 0 | 1 | 10 |
| WNT10A-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 5 | 10 |
| WT1-related disorder | 0 | 23 | 0 | 3 | 7 | 0 | 0 | 10 |
| ZBTB20-related disorder | 0 | 9 | 0 | 6 | 4 | 0 | 0 | 10 |
| capecitabine response - Toxicity | 0 | 1 | 0 | 0 | 0 | 10 | 0 | 10 |
| ACADM-related disorder | 0 | 11 | 0 | 5 | 0 | 0 | 4 | 9 |
| ADCY5-related disorder | 0 | 7 | 0 | 4 | 5 | 0 | 0 | 9 |
| APC2-related disorder | 0 | 33 | 0 | 7 | 3 | 0 | 0 | 9 |
| ARPC1B-related disorder | 0 | 9 | 0 | 8 | 1 | 0 | 0 | 9 |
| ASXL2-related disorder | 0 | 16 | 0 | 7 | 3 | 0 | 0 | 9 |
| ATP13A2-related disorder | 0 | 11 | 0 | 4 | 6 | 0 | 0 | 9 |
| ATP1A1-related disorder | 0 | 13 | 0 | 7 | 1 | 0 | 1 | 9 |
| Abnormal bleeding | 0 | 10 | 0 | 6 | 1 | 1 | 5 | 9 |
| Abnormality of the skeletal system | 0 | 3 | 0 | 9 | 0 | 0 | 0 | 9 |
| Astrocytoma IDH-mutant | 0 | 3 | 9 | 1 | 0 | 0 | 0 | 9 |
| Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome | 0 | 32 | 0 | 1 | 6 | 0 | 2 | 9 |
| BBS10-related disorder | 0 | 14 | 0 | 2 | 7 | 0 | 0 | 9 |
| BBS9-related disorder | 0 | 30 | 0 | 4 | 4 | 0 | 1 | 9 |
| BETA-PLUS-THALASSEMIA | 0 | 27 | 0 | 8 | 0 | 0 | 1 | 9 |
| BRD4-related disorder | 0 | 18 | 0 | 9 | 0 | 0 | 0 | 9 |
| BRWD3-related disorder | 0 | 5 | 0 | 6 | 3 | 0 | 0 | 9 |
| Brugada syndrome (shorter-than-normal QT interval) | 0 | 8 | 0 | 6 | 1 | 0 | 2 | 9 |
| C3-related disorder | 0 | 27 | 0 | 7 | 3 | 0 | 0 | 9 |
| CDKN2A-related disorder | 0 | 13 | 0 | 5 | 4 | 0 | 2 | 9 |
| CEP135-related disorder | 0 | 10 | 0 | 7 | 2 | 0 | 0 | 9 |
| CLIC5-related disorder | 0 | 11 | 0 | 8 | 2 | 0 | 0 | 9 |
| COCH-related disorder | 0 | 5 | 0 | 8 | 2 | 0 | 0 | 9 |
| COL13A1-related disorder | 0 | 23 | 0 | 6 | 3 | 0 | 0 | 9 |
| COL3A1-related disorder | 0 | 24 | 0 | 3 | 6 | 0 | 0 | 9 |
| CPAMD8-related disorder | 0 | 34 | 0 | 9 | 0 | 0 | 0 | 9 |
| CPS1-related disorder | 0 | 8 | 0 | 6 | 3 | 0 | 0 | 9 |
| CSF2RB-related disorder | 0 | 21 | 0 | 6 | 2 | 0 | 1 | 9 |
| CTNNB1-related disorder | 0 | 16 | 0 | 8 | 1 | 0 | 0 | 9 |
| DIAPH1-related disorder | 0 | 11 | 0 | 4 | 6 | 0 | 0 | 9 |
| DLC1-related disorder | 0 | 34 | 0 | 5 | 4 | 0 | 0 | 9 |
| DNA2-related disorder | 0 | 15 | 0 | 7 | 3 | 0 | 1 | 9 |
| DNM2-related disorder | 0 | 9 | 0 | 7 | 2 | 0 | 0 | 9 |
| DNMT1-related disorder | 0 | 15 | 0 | 7 | 2 | 0 | 0 | 9 |
| DZIP1L-related disorder | 0 | 12 | 0 | 9 | 0 | 0 | 0 | 9 |
| Diabetes mellitus type 2, susceptibility to | 0 | 0 | 0 | 1 | 1 | 0 | 7 | 9 |
| EFHC1-related disorder | 0 | 2 | 0 | 5 | 5 | 0 | 0 | 9 |
| EPRS1-related disorder | 0 | 16 | 0 | 9 | 0 | 0 | 0 | 9 |
| ERBB4-related disorder | 0 | 51 | 0 | 6 | 3 | 0 | 0 | 9 |
| ERCC5-related disorder | 0 | 6 | 0 | 9 | 1 | 0 | 0 | 9 |
| ETV6-related disorder | 0 | 16 | 0 | 5 | 3 | 0 | 2 | 9 |
| F11-related disorder | 0 | 11 | 0 | 7 | 1 | 0 | 1 | 9 |
| F12-related disorder | 0 | 4 | 0 | 6 | 3 | 0 | 1 | 9 |
| FANCD2-related disorder | 0 | 13 | 0 | 2 | 7 | 0 | 0 | 9 |
| FKBP10-related disorder | 0 | 13 | 0 | 7 | 2 | 0 | 1 | 9 |
| FOXC1-related disorder | 0 | 1 | 0 | 4 | 4 | 0 | 1 | 9 |
| FOXG1-related disorder | 0 | 8 | 0 | 7 | 4 | 0 | 0 | 9 |
| FYCO1-related disorder | 0 | 1 | 0 | 8 | 0 | 0 | 1 | 9 |
| Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | 0 | 4 | 0 | 7 | 2 | 0 | 0 | 9 |
| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia | 0 | 7 | 0 | 4 | 3 | 0 | 2 | 9 |
| Focal segmental glomerulosclerosis 4, susceptibility to | 0 | 13 | 2 | 7 | 0 | 0 | 3 | 9 |
| GATA2-related disorder | 0 | 9 | 0 | 4 | 6 | 0 | 0 | 9 |
| GLB1-related disorder | 0 | 15 | 0 | 6 | 3 | 0 | 0 | 9 |
| GLI3-related disorder | 0 | 18 | 0 | 7 | 4 | 0 | 0 | 9 |
| GPD1-related disorder | 0 | 3 | 0 | 5 | 3 | 0 | 1 | 9 |
| GPSM2-related disorder | 0 | 6 | 0 | 4 | 6 | 0 | 0 | 9 |
| GRM6-related disorder | 0 | 23 | 0 | 8 | 1 | 0 | 0 | 9 |
| GSR-related disorder | 0 | 7 | 0 | 9 | 0 | 0 | 0 | 9 |
| Genetic non-acquired premature ovarian failure | 0 | 1 | 0 | 5 | 0 | 0 | 5 | 9 |
| HECW2-related disorder | 0 | 21 | 0 | 9 | 0 | 0 | 0 | 9 |
| Hemoglobin E | 0 | 2 | 0 | 1 | 6 | 1 | 1 | 9 |
| INSULIN RESISTANCE, DIGENIC | 0 | 4 | 0 | 4 | 5 | 0 | 0 | 9 |
| ITGA7-related disorder | 0 | 10 | 0 | 4 | 4 | 0 | 1 | 9 |
| Inherited prostate cancer | 0 | 12 | 0 | 6 | 3 | 0 | 0 | 9 |
| JPH2-related disorder | 0 | 7 | 0 | 4 | 6 | 0 | 0 | 9 |
| KMT2C-related NDD | 0 | 3 | 0 | 8 | 1 | 0 | 0 | 9 |
| KRAS-related disorder | 0 | 9 | 0 | 7 | 3 | 0 | 0 | 9 |
| LAMA4-related disorder | 0 | 23 | 0 | 3 | 6 | 0 | 0 | 9 |
| LBR-related disorder | 0 | 9 | 0 | 9 | 2 | 0 | 0 | 9 |
| LCT-related disorder | 0 | 16 | 0 | 9 | 0 | 0 | 0 | 9 |
| LMF1-related disorder | 0 | 15 | 0 | 7 | 2 | 0 | 0 | 9 |
| LMX1B-related disorder | 0 | 13 | 0 | 5 | 4 | 0 | 0 | 9 |
| LRBA-related disorder | 0 | 19 | 0 | 2 | 8 | 0 | 0 | 9 |
| LYST-related disorder | 0 | 22 | 0 | 1 | 8 | 0 | 0 | 9 |
| MCM2-related disorder | 0 | 20 | 0 | 8 | 1 | 0 | 0 | 9 |
| MITF-related disorder | 0 | 35 | 0 | 2 | 7 | 0 | 0 | 9 |
| MLC1-related disorder | 0 | 4 | 0 | 5 | 4 | 0 | 0 | 9 |
| MPL-related disorder | 0 | 10 | 0 | 5 | 4 | 0 | 0 | 9 |
| MRPS22-related disorder | 0 | 1 | 0 | 8 | 3 | 0 | 0 | 9 |
| MTTP-related disorder | 0 | 11 | 0 | 4 | 5 | 0 | 0 | 9 |
| MYO1E-related disorder | 0 | 12 | 0 | 5 | 5 | 0 | 0 | 9 |
| MYO6-related disorder | 0 | 8 | 0 | 4 | 5 | 0 | 2 | 9 |
| MYT1L-related disorder | 0 | 10 | 0 | 9 | 0 | 0 | 0 | 9 |
| NAXD-related disorder | 0 | 8 | 0 | 9 | 0 | 0 | 0 | 9 |
| NBEA-related disorder | 0 | 24 | 0 | 7 | 2 | 0 | 0 | 9 |
| NDUFV1-related disorder | 0 | 9 | 0 | 7 | 1 | 0 | 1 | 9 |
| NIPBL-related disorder | 0 | 17 | 0 | 6 | 3 | 0 | 1 | 9 |
| NTRK1-related disorder | 0 | 7 | 0 | 4 | 5 | 0 | 0 | 9 |
| NUP188-related disorder | 0 | 14 | 0 | 8 | 1 | 0 | 0 | 9 |
| P4HB-related disorder | 0 | 3 | 0 | 9 | 0 | 0 | 0 | 9 |
| PAH-related disorder | 0 | 44 | 0 | 8 | 0 | 0 | 3 | 9 |
| PALLD-related disorder | 0 | 6 | 0 | 4 | 7 | 0 | 0 | 9 |
| PDE4D-related disorder | 0 | 4 | 0 | 8 | 2 | 0 | 0 | 9 |
| PDE6B-related disorder | 0 | 15 | 0 | 7 | 1 | 0 | 3 | 9 |
| PDE6C-related disorder | 0 | 9 | 0 | 6 | 4 | 0 | 0 | 9 |
| PEX10-related disorder | 0 | 12 | 0 | 0 | 9 | 0 | 0 | 9 |
| PEX26-related disorder | 0 | 6 | 0 | 1 | 8 | 0 | 0 | 9 |
| PGK1-related disorder | 0 | 3 | 0 | 8 | 2 | 0 | 0 | 9 |
| PHKB-related disorder | 0 | 5 | 0 | 3 | 6 | 0 | 0 | 9 |
| PIK3CA-related disorder | 0 | 12 | 0 | 8 | 1 | 0 | 1 | 9 |
| PRRT2-Related Disorder | 0 | 5 | 0 | 7 | 4 | 0 | 0 | 9 |
| PTPRQ-related disorder | 0 | 5 | 0 | 4 | 5 | 0 | 0 | 9 |
| Paediatric disorders | 0 | 12 | 0 | 2 | 6 | 0 | 1 | 9 |
| RAD51D-related disorder | 0 | 23 | 0 | 2 | 6 | 0 | 1 | 9 |
| RB1-related disorder | 0 | 11 | 0 | 6 | 5 | 0 | 0 | 9 |
| RECQL-related disorder | 0 | 18 | 0 | 1 | 8 | 0 | 0 | 9 |
| RIPK4-related disorder | 0 | 5 | 0 | 8 | 1 | 0 | 0 | 9 |
| SALL4-Related Disorders | 0 | 7 | 0 | 5 | 5 | 0 | 0 | 9 |
| SDHB-related disorder | 0 | 13 | 0 | 8 | 1 | 0 | 1 | 9 |
| SEC23B-related disorder | 0 | 10 | 0 | 3 | 6 | 0 | 0 | 9 |
| SGCA-related disorder | 0 | 3 | 0 | 0 | 6 | 0 | 3 | 9 |
| SH2B1-related disorder | 0 | 67 | 0 | 4 | 5 | 0 | 0 | 9 |
| SHANK3-related disorder | 0 | 13 | 0 | 9 | 1 | 0 | 0 | 9 |
| SLC12A1-related disorder | 0 | 10 | 0 | 7 | 2 | 0 | 1 | 9 |
| SLC7A9-related disorder | 0 | 8 | 0 | 8 | 0 | 0 | 2 | 9 |
| STXBP2-related disorder | 0 | 6 | 0 | 5 | 4 | 1 | 0 | 9 |
| TBX1-related disorder | 0 | 13 | 0 | 5 | 5 | 0 | 0 | 9 |
| TBX3-related disorder | 0 | 9 | 0 | 3 | 6 | 0 | 0 | 9 |
| TEX15-related disorder | 0 | 6 | 0 | 9 | 0 | 0 | 0 | 9 |
| TOPORS-related disorder | 0 | 8 | 0 | 6 | 4 | 0 | 0 | 9 |
| TREM2-related disorder | 0 | 9 | 0 | 4 | 5 | 0 | 1 | 9 |
| TRMU-related disorder | 0 | 23 | 0 | 2 | 6 | 0 | 1 | 9 |
| TRPM4-related disorder | 0 | 10 | 0 | 6 | 4 | 0 | 0 | 9 |
| TUBA1A-related disorder | 0 | 14 | 0 | 7 | 1 | 0 | 4 | 9 |
| TULP1-related disorder | 0 | 7 | 0 | 4 | 4 | 0 | 2 | 9 |
| Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 | 0 | 6 | 0 | 7 | 2 | 0 | 0 | 9 |
| WDR19-related disorder | 0 | 15 | 0 | 3 | 6 | 0 | 0 | 9 |
| WRN-related disorder | 0 | 10 | 0 | 1 | 8 | 0 | 0 | 9 |
| XIRP2-related disorder | 0 | 33 | 0 | 9 | 0 | 0 | 0 | 9 |
| ZNF292-related disorder | 0 | 12 | 0 | 9 | 0 | 0 | 0 | 9 |
| ZNF341-related disorder | 0 | 16 | 0 | 9 | 0 | 0 | 0 | 9 |
| ABCB6-related disorder | 0 | 5 | 0 | 6 | 3 | 0 | 2 | 8 |
| ABHD12-related disorder | 0 | 6 | 0 | 3 | 7 | 0 | 0 | 8 |
| ABL1-related disorder | 0 | 14 | 0 | 7 | 1 | 0 | 0 | 8 |
| ACTB-related disorder | 0 | 11 | 0 | 7 | 0 | 0 | 1 | 8 |
| ACVRL1-related disorder | 0 | 13 | 0 | 8 | 0 | 0 | 1 | 8 |
| AHI1-related disorder | 0 | 8 | 0 | 2 | 6 | 0 | 0 | 8 |
| ALAS2-related disorder | 0 | 8 | 0 | 6 | 2 | 0 | 0 | 8 |
| ALDH5A1-related disorder | 0 | 5 | 0 | 5 | 4 | 0 | 0 | 8 |
| ALDOB-related disorder | 0 | 11 | 0 | 1 | 7 | 0 | 0 | 8 |
| ALG13-related disorder | 0 | 14 | 0 | 6 | 2 | 0 | 0 | 8 |
| ALG9-related disorder | 0 | 4 | 0 | 3 | 6 | 0 | 0 | 8 |
| ALPK1-related disorder | 0 | 5 | 0 | 7 | 1 | 0 | 0 | 8 |
| AMACR-related disorder | 0 | 6 | 0 | 0 | 8 | 0 | 0 | 8 |
| AMPD1-related disorder | 0 | 2 | 0 | 2 | 8 | 2 | 2 | 8 |
| ANKH-related disorder | 0 | 5 | 0 | 6 | 2 | 0 | 0 | 8 |
| ANKZF1-related disorder | 0 | 23 | 0 | 7 | 1 | 0 | 0 | 8 |
| ARHGAP24-related disorder | 0 | 9 | 0 | 6 | 3 | 0 | 0 | 8 |
| ATP2A1-related disorder | 0 | 7 | 0 | 4 | 6 | 0 | 0 | 8 |
| ATP6V0A2-related disorder | 0 | 8 | 0 | 4 | 6 | 0 | 0 | 8 |
| ATP8A2-related disorder | 0 | 4 | 0 | 6 | 2 | 0 | 0 | 8 |
| ATR-related disorder | 0 | 43 | 0 | 7 | 2 | 0 | 0 | 8 |
| Abnormal cardiovascular system morphology | 0 | 14 | 0 | 5 | 0 | 0 | 3 | 8 |
| Abnormal central motor function | 0 | 9 | 0 | 7 | 0 | 0 | 1 | 8 |
| Autosomal dominant epilepsy | 0 | 6 | 0 | 6 | 0 | 0 | 3 | 8 |
| BBS7-related disorder | 0 | 10 | 0 | 4 | 3 | 0 | 1 | 8 |
| BCKDHA-related disorder | 0 | 7 | 0 | 4 | 4 | 0 | 0 | 8 |
| BLK-related disorder | 0 | 6 | 0 | 3 | 6 | 0 | 1 | 8 |
| BPTF-related disorder | 0 | 25 | 0 | 7 | 1 | 0 | 0 | 8 |
| Breast and colorectal cancer, susceptibility to | 0 | 3 | 0 | 5 | 0 | 0 | 4 | 8 |
| C7-related disorder | 0 | 5 | 0 | 7 | 0 | 0 | 1 | 8 |
| CACNB4-related disorder | 0 | 2 | 0 | 6 | 4 | 0 | 0 | 8 |
| CDK4-related disorder | 0 | 8 | 0 | 3 | 5 | 0 | 0 | 8 |
| CDKL5-related disorder | 0 | 10 | 0 | 3 | 7 | 0 | 0 | 8 |
| CEP104-related disorder | 0 | 7 | 0 | 8 | 0 | 0 | 0 | 8 |
| CHRNA2-related disorder | 0 | 6 | 0 | 6 | 3 | 0 | 0 | 8 |
| CLCN2-related disorder | 0 | 12 | 0 | 8 | 1 | 0 | 0 | 8 |
| CTNNA3-related disorder | 0 | 4 | 0 | 5 | 3 | 0 | 0 | 8 |
| CTU2-related disorder | 0 | 22 | 0 | 5 | 4 | 0 | 0 | 8 |
| CYP7B1-related disorder | 0 | 9 | 0 | 2 | 7 | 0 | 0 | 8 |
| Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild | 0 | 18 | 0 | 6 | 0 | 0 | 2 | 8 |
| DES-related disorder | 0 | 7 | 0 | 2 | 6 | 0 | 0 | 8 |
| DIAPH3-related disorder | 0 | 14 | 0 | 5 | 3 | 0 | 0 | 8 |
| DNAH10-related disorder | 0 | 15 | 0 | 6 | 2 | 0 | 0 | 8 |
| DNAJC13-related disorder | 0 | 10 | 0 | 8 | 0 | 0 | 0 | 8 |
| DOCK8-related disorder | 0 | 22 | 0 | 2 | 6 | 0 | 1 | 8 |
| DSG1-related disorder | 0 | 25 | 0 | 8 | 0 | 0 | 0 | 8 |
| Death in infancy | 0 | 0 | 0 | 0 | 0 | 0 | 8 | 8 |
| Deep venous thrombosis | 0 | 3 | 0 | 1 | 4 | 1 | 4 | 8 |
| Differences in sex development | 0 | 15 | 0 | 5 | 1 | 0 | 3 | 8 |
| Disseminated atypical mycobacterial infection | 0 | 25 | 0 | 6 | 1 | 0 | 1 | 8 |
| Dystrophin deficiency | 0 | 24 | 0 | 1 | 7 | 0 | 0 | 8 |
| ELP1-related disorder | 0 | 9 | 0 | 7 | 1 | 0 | 1 | 8 |
| EPHA2-related disorder | 0 | 5 | 0 | 6 | 3 | 0 | 0 | 8 |
| FASTKD2-related disorder | 0 | 2 | 0 | 4 | 4 | 0 | 0 | 8 |
| FIG4-related disorder | 0 | 20 | 0 | 4 | 3 | 0 | 2 | 8 |
| Factor VII-activating protease marburg I | 0 | 17 | 0 | 5 | 3 | 0 | 0 | 8 |
| GRN-related disorder | 0 | 14 | 0 | 7 | 1 | 0 | 0 | 8 |
| Gallbladder disease 4; Sitosterolemia 1 | 0 | 6 | 0 | 3 | 6 | 0 | 0 | 8 |
| HK1-related disorder | 0 | 20 | 0 | 5 | 2 | 0 | 1 | 8 |
| HPS6-related disorder | 0 | 14 | 0 | 6 | 2 | 0 | 0 | 8 |
| HSD3B7-related disorder | 0 | 11 | 0 | 4 | 4 | 0 | 1 | 8 |
| IFT27-related disorder | 0 | 28 | 0 | 1 | 7 | 0 | 0 | 8 |
| INTS1-related disorder | 0 | 10 | 0 | 4 | 4 | 0 | 0 | 8 |
| ITSN2-related disorder | 0 | 28 | 0 | 6 | 2 | 0 | 0 | 8 |
| KARS1-related disorder | 0 | 11 | 0 | 6 | 1 | 0 | 1 | 8 |
| KCNB1-related disorder | 0 | 7 | 0 | 6 | 2 | 0 | 0 | 8 |
| L1CAM-related disorder | 0 | 12 | 0 | 4 | 4 | 0 | 0 | 8 |
| LAMB2-related disorder | 0 | 12 | 0 | 1 | 7 | 0 | 0 | 8 |
| LOX-related disorder | 0 | 12 | 0 | 6 | 2 | 0 | 0 | 8 |
| MBTPS1-related disorder | 0 | 14 | 0 | 8 | 0 | 0 | 0 | 8 |
| MID1-related disorder | 0 | 5 | 0 | 7 | 1 | 0 | 1 | 8 |
| MTR-related disorder | 0 | 4 | 0 | 6 | 2 | 0 | 0 | 8 |
| MYPN-related disorder | 0 | 23 | 0 | 3 | 5 | 0 | 0 | 8 |
| NFATC1-related disorder | 0 | 27 | 0 | 7 | 1 | 0 | 0 | 8 |
| NLRP2-related disorder | 0 | 26 | 0 | 7 | 1 | 0 | 0 | 8 |
| NPHS2-related disorder | 0 | 10 | 0 | 6 | 0 | 0 | 2 | 8 |
| NSD2-related disorder | 0 | 14 | 0 | 8 | 0 | 0 | 0 | 8 |
| OFD1-related disorder | 0 | 8 | 0 | 3 | 5 | 0 | 0 | 8 |
| Osteogenesis Imperfecta, Recessive | 0 | 8 | 0 | 0 | 8 | 0 | 0 | 8 |
| PCDH19-related disorder | 0 | 7 | 0 | 4 | 4 | 0 | 0 | 8 |
| PIGO-related disorder | 0 | 7 | 0 | 3 | 5 | 0 | 0 | 8 |
| PIK3R2-related disorder | 0 | 5 | 0 | 7 | 2 | 0 | 0 | 8 |
| PTCH2-related disorder | 0 | 9 | 0 | 7 | 1 | 0 | 0 | 8 |
| PTPRD-related disorder | 0 | 15 | 0 | 8 | 0 | 0 | 0 | 8 |
| PYGM-related disorder | 0 | 9 | 0 | 3 | 5 | 0 | 1 | 8 |
| Parkinson disease 13, autosomal dominant, susceptibility to | 0 | 15 | 0 | 2 | 7 | 0 | 0 | 8 |
| Primary Mitochondrial Disorders | 0 | 10 | 0 | 6 | 0 | 0 | 2 | 8 |
| Pulmonary arterial hypertension associated with congenital heart disease | 0 | 1 | 0 | 2 | 2 | 0 | 4 | 8 |
| RHBDF2-related disorder | 0 | 6 | 0 | 7 | 2 | 0 | 0 | 8 |
| RIMS1-related disorder | 0 | 11 | 0 | 4 | 6 | 0 | 0 | 8 |
| Rod-cone dystrophy | 0 | 12 | 0 | 2 | 0 | 0 | 7 | 8 |
| SCN3A-related disorder | 0 | 32 | 0 | 4 | 5 | 0 | 0 | 8 |
| SGSH-related disorder | 0 | 8 | 0 | 5 | 3 | 0 | 0 | 8 |
| SIX5-related disorder | 0 | 18 | 0 | 4 | 5 | 0 | 0 | 8 |
| SLC12A6-related disorder | 0 | 15 | 0 | 6 | 1 | 0 | 1 | 8 |
| SLC26A1-related disorder | 0 | 12 | 0 | 5 | 1 | 0 | 2 | 8 |
| SLC6A8-related disorder | 0 | 12 | 0 | 6 | 2 | 0 | 0 | 8 |
| SLCO1B1-related disorder | 0 | 3 | 0 | 8 | 0 | 1 | 0 | 8 |
| SMARCB1-related disorder | 0 | 15 | 0 | 4 | 5 | 0 | 0 | 8 |
| SOS2-related disorder | 0 | 20 | 0 | 7 | 1 | 0 | 0 | 8 |
| STRC-related disorder | 0 | 7 | 0 | 1 | 5 | 0 | 2 | 8 |
| TBC1D8B-related disorder | 0 | 5 | 0 | 6 | 2 | 0 | 0 | 8 |
| TELO2-related disorder | 0 | 8 | 0 | 6 | 2 | 0 | 0 | 8 |
| TENM3-related disorder | 0 | 9 | 0 | 7 | 1 | 0 | 0 | 8 |
| TENM4-related disorder | 0 | 21 | 0 | 6 | 3 | 0 | 0 | 8 |
| THAP11-related disorder | 0 | 7 | 0 | 8 | 0 | 0 | 0 | 8 |
| TMPRSS6-related disorder | 0 | 7 | 0 | 3 | 5 | 0 | 0 | 8 |
| TNNT2-related disorder | 0 | 11 | 0 | 5 | 2 | 0 | 1 | 8 |
| TONSL-related disorder | 0 | 31 | 0 | 7 | 1 | 0 | 0 | 8 |
| TPM1-related disorder | 0 | 7 | 0 | 7 | 1 | 0 | 0 | 8 |
| TSHR-related disorder | 0 | 11 | 0 | 7 | 1 | 0 | 1 | 8 |
| UBR1-related disorder | 0 | 19 | 0 | 5 | 3 | 0 | 0 | 8 |
| USH1C-related disorder | 0 | 20 | 0 | 5 | 5 | 0 | 0 | 8 |
| USH1G-related disorder | 0 | 5 | 0 | 3 | 6 | 0 | 0 | 8 |
| VLDLR-related disorder | 0 | 14 | 0 | 5 | 3 | 0 | 0 | 8 |
| WDR81-related disorder | 0 | 15 | 0 | 5 | 3 | 0 | 0 | 8 |
| Wiedemann-Rautenstrauch-like progeroid syndrome | 0 | 1 | 0 | 7 | 0 | 0 | 1 | 8 |
| concomitant exotropia | 0 | 0 | 0 | 0 | 0 | 0 | 8 | 8 |
| fluorouracil response - Other | 0 | 0 | 0 | 0 | 0 | 8 | 0 | 8 |
| AARS1-related disorder | 0 | 9 | 0 | 6 | 0 | 0 | 1 | 7 |
| ABCB7-related disorder | 0 | 4 | 0 | 7 | 1 | 0 | 0 | 7 |
| ACADS-related disorder | 0 | 5 | 0 | 6 | 1 | 0 | 0 | 7 |
| ACTN4-related disorder | 0 | 11 | 0 | 6 | 2 | 0 | 0 | 7 |
| ACY1-related disorder | 0 | 3 | 0 | 6 | 1 | 0 | 0 | 7 |
| AIPL1-related disorder | 0 | 1 | 0 | 3 | 5 | 0 | 0 | 7 |
| ANO6-related disorder | 0 | 5 | 0 | 4 | 1 | 0 | 2 | 7 |
| ARHGEF1-related disorder | 0 | 11 | 0 | 6 | 1 | 0 | 0 | 7 |
| ARX-related disorder | 0 | 5 | 0 | 2 | 6 | 0 | 0 | 7 |
| AXL-related disorder | 0 | 6 | 0 | 5 | 2 | 0 | 0 | 7 |
| Abnormal cerebral morphology | 0 | 6 | 0 | 4 | 0 | 0 | 3 | 7 |
| Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality | 0 | 2 | 0 | 7 | 0 | 0 | 0 | 7 |
| Autosomal recessive POLG-related disorders | 0 | 3 | 0 | 6 | 0 | 0 | 2 | 7 |
| BACH2-related disorder | 0 | 16 | 0 | 7 | 0 | 0 | 0 | 7 |
| BCL11B-related disorder | 0 | 18 | 0 | 5 | 2 | 0 | 1 | 7 |
| BICC1-related disorder | 0 | 5 | 0 | 6 | 1 | 0 | 0 | 7 |
| BICD2-related disorder | 0 | 4 | 0 | 6 | 1 | 0 | 0 | 7 |
| BTD-related disorder | 0 | 12 | 0 | 5 | 3 | 0 | 1 | 7 |
| C5-related disorder | 0 | 12 | 0 | 4 | 2 | 0 | 1 | 7 |
| CAMK2B-related disorder | 0 | 14 | 0 | 6 | 1 | 0 | 0 | 7 |
| CAVIN1-related disorder | 0 | 6 | 0 | 2 | 6 | 0 | 0 | 7 |
| CBS-related disorder | 0 | 22 | 0 | 3 | 2 | 0 | 2 | 7 |
| CDH3-related disorder | 0 | 15 | 0 | 4 | 3 | 0 | 0 | 7 |
| CELSR2-related disorder | 0 | 31 | 0 | 4 | 3 | 0 | 0 | 7 |
| CENPJ-related disorder | 0 | 8 | 0 | 4 | 3 | 0 | 0 | 7 |
| CFH-related disorder | 0 | 15 | 0 | 6 | 1 | 0 | 0 | 7 |
| CHD3-related disorder | 0 | 19 | 0 | 4 | 2 | 0 | 1 | 7 |
| CILK1-related disorder | 0 | 4 | 0 | 6 | 1 | 0 | 0 | 7 |
| CLPB-related disorder | 0 | 9 | 0 | 2 | 3 | 0 | 2 | 7 |
| CNGA3-related disorder | 0 | 21 | 0 | 5 | 2 | 0 | 2 | 7 |
| CNOT1-related disorder | 0 | 20 | 0 | 6 | 1 | 0 | 0 | 7 |
| CNOT3-related disorder | 0 | 10 | 0 | 7 | 0 | 0 | 0 | 7 |
| CP-related disorder | 0 | 9 | 0 | 2 | 5 | 0 | 0 | 7 |
| CPT1A-related disorder | 0 | 7 | 0 | 2 | 4 | 0 | 1 | 7 |
| CSMD3-related disorder | 0 | 19 | 0 | 7 | 0 | 0 | 0 | 7 |
| CTCF-related disorder | 0 | 5 | 0 | 5 | 2 | 0 | 0 | 7 |
| Cystic fibrosis diagnostic test | 0 | 20 | 0 | 5 | 2 | 0 | 2 | 7 |
| DHTKD1-related disorder | 0 | 8 | 0 | 6 | 1 | 0 | 1 | 7 |
| DIP2C-related disorder | 0 | 23 | 0 | 7 | 0 | 0 | 0 | 7 |
| DTNA-related disorder | 0 | 9 | 0 | 5 | 4 | 0 | 0 | 7 |
| Decreased circulating carnitine concentration | 0 | 23 | 0 | 1 | 1 | 0 | 5 | 7 |
| Delayed puberty | 0 | 0 | 0 | 3 | 0 | 0 | 4 | 7 |
| EDA-related disorder | 0 | 2 | 0 | 7 | 0 | 0 | 0 | 7 |
| EFL1-related disorder | 0 | 16 | 0 | 7 | 0 | 0 | 0 | 7 |
| EGF-related disorder | 0 | 12 | 0 | 6 | 1 | 0 | 0 | 7 |
| EP400-related disorder | 0 | 10 | 0 | 7 | 0 | 0 | 0 | 7 |
| EPM2A-related disorder | 0 | 0 | 0 | 2 | 5 | 0 | 0 | 7 |
| EPS8L2-related disorder | 0 | 9 | 0 | 2 | 5 | 0 | 0 | 7 |
| EXT2-related disorder | 0 | 5 | 0 | 1 | 7 | 0 | 0 | 7 |
| Ectopic tissue | 0 | 19 | 0 | 3 | 0 | 0 | 5 | 7 |
| FAH-related disorder | 0 | 13 | 0 | 1 | 6 | 0 | 1 | 7 |
| FBXO11-related disorder | 0 | 11 | 0 | 5 | 2 | 0 | 0 | 7 |
| FBXW7-related disorder | 0 | 5 | 0 | 5 | 2 | 0 | 0 | 7 |
| FGFR2-related disorder | 0 | 22 | 0 | 5 | 2 | 0 | 0 | 7 |
| FOXI1-related disorder | 0 | 11 | 0 | 6 | 1 | 0 | 0 | 7 |
| FUCA1-related disorder | 0 | 3 | 0 | 5 | 2 | 0 | 0 | 7 |
| GATA5-related disorder | 0 | 13 | 0 | 5 | 2 | 0 | 0 | 7 |
| GCDH-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 3 | 7 |
| GRIN2D-related disorder | 0 | 13 | 0 | 5 | 2 | 0 | 0 | 7 |
| GRIP1-related disorder | 0 | 17 | 0 | 3 | 5 | 0 | 0 | 7 |
| HOMER2-related disorder | 0 | 4 | 0 | 6 | 2 | 0 | 0 | 7 |
| HPS3-related disorder | 0 | 13 | 0 | 4 | 4 | 0 | 0 | 7 |
| HPS5-related disorder | 0 | 21 | 0 | 6 | 1 | 0 | 0 | 7 |
| Hypofibrinogenemia | 0 | 5 | 0 | 3 | 2 | 0 | 2 | 7 |
| Hypoplasia of the iris | 0 | 6 | 0 | 4 | 2 | 0 | 1 | 7 |
| IHH-related disorder | 0 | 4 | 0 | 5 | 3 | 0 | 1 | 7 |
| IMPG2-related disorder | 0 | 11 | 0 | 3 | 4 | 0 | 1 | 7 |
| ITGA3-related disorder | 0 | 14 | 0 | 4 | 3 | 0 | 0 | 7 |
| Immunodeficiency 28 | 0 | 20 | 0 | 3 | 4 | 0 | 0 | 7 |
| KATNB1-related disorder | 0 | 16 | 0 | 7 | 0 | 0 | 0 | 7 |
| KCNJ10-related disorder | 0 | 5 | 0 | 2 | 6 | 0 | 0 | 7 |
| KCNK4-related disorder | 0 | 4 | 0 | 6 | 1 | 0 | 0 | 7 |
| KCNQ3-related disorder | 0 | 6 | 0 | 5 | 1 | 0 | 1 | 7 |
| KCNQ4-related disorder | 0 | 4 | 0 | 6 | 1 | 0 | 0 | 7 |
| KDM6A-related disorder | 0 | 9 | 0 | 6 | 1 | 0 | 0 | 7 |
| KRT74-related disorder | 0 | 4 | 0 | 7 | 0 | 0 | 0 | 7 |
| LRPPRC-related disorder | 0 | 26 | 0 | 4 | 5 | 0 | 0 | 7 |
| MAN1B1-related disorder | 0 | 1 | 0 | 3 | 4 | 0 | 0 | 7 |
| MAN2B1-related disorder | 0 | 6 | 0 | 2 | 5 | 0 | 0 | 7 |
| MAPK8IP3-related disorder | 0 | 18 | 0 | 7 | 0 | 0 | 0 | 7 |
| MASP1-related disorder | 0 | 6 | 0 | 3 | 4 | 0 | 0 | 7 |
| MBD4-related disorder | 0 | 10 | 0 | 3 | 2 | 0 | 2 | 7 |
| MBTPS2-related disorder | 0 | 1 | 0 | 6 | 1 | 0 | 0 | 7 |
| MERTK-related disorder | 0 | 11 | 0 | 5 | 4 | 0 | 0 | 7 |
| MPV17-related disorder | 0 | 8 | 0 | 3 | 4 | 0 | 0 | 7 |
| MYO5A-related disorder | 0 | 11 | 0 | 4 | 3 | 0 | 0 | 7 |
| MYO9A-related disorder | 0 | 9 | 0 | 2 | 5 | 0 | 0 | 7 |
| MYOM1-related disorder | 0 | 15 | 0 | 5 | 2 | 0 | 0 | 7 |
| MYSM1-related disorder | 0 | 13 | 0 | 5 | 2 | 0 | 0 | 7 |
| Male infertility with spermatogenesis disorder | 0 | 1 | 0 | 3 | 0 | 0 | 7 | 7 |
| NACC1-related disorder | 0 | 17 | 0 | 6 | 0 | 0 | 1 | 7 |
| NCAPG2-related disorder | 0 | 9 | 0 | 6 | 1 | 0 | 0 | 7 |
| NCSTN-related disorder | 0 | 4 | 0 | 6 | 1 | 0 | 0 | 7 |
| NLGN4X-related disorder | 0 | 6 | 0 | 5 | 2 | 0 | 0 | 7 |
| NR1H4-related disorder | 0 | 9 | 0 | 0 | 7 | 0 | 0 | 7 |
| NRAP-related disorder | 0 | 28 | 0 | 5 | 2 | 0 | 0 | 7 |
| NUP160-related disorder | 0 | 14 | 0 | 4 | 3 | 0 | 0 | 7 |
| NUP93-related disorder | 0 | 10 | 0 | 6 | 0 | 0 | 1 | 7 |
| P2RX2-related disorder | 0 | 9 | 0 | 5 | 2 | 0 | 0 | 7 |
| PAX3-related disorder | 0 | 9 | 0 | 7 | 0 | 0 | 0 | 7 |
| PDE6A-related disorder | 0 | 8 | 0 | 2 | 4 | 0 | 2 | 7 |
| PDGFRB-related disorder | 0 | 11 | 0 | 6 | 1 | 0 | 0 | 7 |
| PEPD-related disorder | 0 | 9 | 0 | 7 | 0 | 0 | 0 | 7 |
| PEX12-related disorder | 0 | 6 | 0 | 3 | 3 | 0 | 1 | 7 |
| PEX19-related disorder | 0 | 3 | 0 | 1 | 6 | 0 | 0 | 7 |
| PEX7-related disorder | 0 | 10 | 0 | 1 | 6 | 0 | 0 | 7 |
| PIGG-related disorder | 0 | 6 | 0 | 5 | 2 | 0 | 0 | 7 |
| PITPNM3-related disorder | 0 | 10 | 0 | 4 | 4 | 0 | 0 | 7 |
| PITRM1-related disorder | 0 | 22 | 0 | 7 | 0 | 0 | 0 | 7 |
| PLCG2-related disorder | 0 | 21 | 0 | 5 | 3 | 0 | 0 | 7 |
| PLOD2-related disorder | 0 | 3 | 0 | 5 | 2 | 0 | 0 | 7 |
| PLXND1-related disorder | 0 | 27 | 0 | 7 | 0 | 0 | 0 | 7 |
| PMM2-related disorder | 0 | 12 | 0 | 6 | 1 | 0 | 0 | 7 |
| POLA1-related disorder | 0 | 10 | 0 | 5 | 2 | 0 | 0 | 7 |
| PRKAR1B-related disorder | 0 | 7 | 0 | 6 | 0 | 0 | 1 | 7 |
| PRKD1-related disorder | 0 | 5 | 0 | 6 | 2 | 0 | 0 | 7 |
| PRKN-related disorder | 0 | 1 | 0 | 6 | 1 | 0 | 0 | 7 |
| PRR12-related disorder | 0 | 31 | 0 | 7 | 0 | 0 | 0 | 7 |
| PRX-related disorder | 0 | 15 | 0 | 2 | 5 | 0 | 0 | 7 |
| PTPRO-related disorder | 0 | 10 | 0 | 6 | 1 | 0 | 0 | 7 |
| RAB3GAP2-related disorder | 0 | 8 | 0 | 2 | 5 | 0 | 0 | 7 |
| RBP3-related disorder | 0 | 13 | 0 | 3 | 4 | 0 | 0 | 7 |
| RNF31-related disorder | 0 | 8 | 0 | 3 | 5 | 0 | 0 | 7 |
| ROBO2-related disorder | 0 | 17 | 0 | 6 | 1 | 0 | 0 | 7 |
| RUNX1-related disorder | 0 | 15 | 0 | 4 | 3 | 0 | 0 | 7 |
| SCAPER-related disorder | 0 | 22 | 0 | 6 | 1 | 0 | 0 | 7 |
| SCARB2-related disorder | 0 | 3 | 0 | 2 | 6 | 0 | 0 | 7 |
| SCLT1-related disorder | 0 | 40 | 0 | 4 | 2 | 0 | 1 | 7 |
| SCNN1B-related disorder | 0 | 9 | 0 | 6 | 1 | 0 | 0 | 7 |
| SHH-related disorder | 0 | 11 | 0 | 4 | 3 | 0 | 1 | 7 |
| SIM1-related disorder | 0 | 40 | 0 | 6 | 2 | 0 | 0 | 7 |
| SLC12A2-related disorder | 0 | 2 | 0 | 4 | 3 | 0 | 0 | 7 |
| SLC19A3-related disorder | 0 | 1 | 0 | 3 | 3 | 0 | 1 | 7 |
| SLC22A12-related disorder | 0 | 1 | 0 | 4 | 1 | 0 | 2 | 7 |
| SLC24A1-related disorder | 0 | 9 | 0 | 4 | 4 | 0 | 0 | 7 |
| SLC26A3-related disorder | 0 | 11 | 0 | 7 | 0 | 0 | 0 | 7 |
| SLC37A4-related disorder | 0 | 6 | 0 | 1 | 7 | 0 | 1 | 7 |
| SLC6A1-related disorder | 0 | 12 | 0 | 5 | 2 | 0 | 1 | 7 |
| SMAD4-related disorder | 0 | 22 | 0 | 5 | 3 | 0 | 0 | 7 |
| SOX11-related disorder | 0 | 12 | 0 | 5 | 3 | 0 | 0 | 7 |
| SPEN-related disorder | 0 | 34 | 0 | 6 | 1 | 0 | 0 | 7 |
| SPTBN1-related disorder | 0 | 2 | 0 | 6 | 0 | 0 | 1 | 7 |
| SRP72-related disorder | 0 | 25 | 0 | 1 | 6 | 0 | 0 | 7 |
| STIL-related disorder | 0 | 4 | 0 | 1 | 7 | 0 | 0 | 7 |
| STS-related disorder | 0 | 1 | 0 | 7 | 0 | 0 | 0 | 7 |
| SUFU-related disorder | 0 | 8 | 0 | 3 | 5 | 0 | 0 | 7 |
| Seizure; Hypotonia; Neurodevelopmental Disability | 0 | 0 | 0 | 7 | 0 | 0 | 0 | 7 |
| Skeletal muscle channelopathy | 0 | 7 | 0 | 7 | 0 | 0 | 1 | 7 |
| Susceptibility to nonsyndromic otitis media | 0 | 1 | 0 | 0 | 4 | 0 | 3 | 7 |
| TANGO2-related disorder | 0 | 9 | 0 | 4 | 3 | 0 | 0 | 7 |
| TBCK-related disorder | 0 | 19 | 0 | 5 | 2 | 0 | 0 | 7 |
| TBX2-related disorder | 0 | 7 | 0 | 6 | 1 | 0 | 0 | 7 |
| TET2-related disorder | 0 | 19 | 0 | 5 | 3 | 0 | 0 | 7 |
| TIAM1-related disorder | 0 | 7 | 0 | 5 | 2 | 0 | 0 | 7 |
| TNFAIP3-related disorder | 0 | 9 | 0 | 5 | 3 | 0 | 0 | 7 |
| TNFRSF1A-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 1 | 7 |
| TOE1-related disorder | 0 | 4 | 0 | 4 | 4 | 0 | 0 | 7 |
| TOP3A-related disorder | 0 | 19 | 0 | 5 | 2 | 0 | 0 | 7 |
| TP63-related disorder | 0 | 10 | 0 | 4 | 3 | 0 | 0 | 7 |
| TPO-related disorder | 0 | 7 | 0 | 7 | 0 | 0 | 0 | 7 |
| TRIP11-related disorder | 0 | 12 | 0 | 1 | 6 | 0 | 0 | 7 |
| TTR-related disorder | 0 | 1 | 0 | 4 | 4 | 0 | 0 | 7 |
| TYMP-related disorder | 0 | 13 | 0 | 6 | 1 | 0 | 0 | 7 |
| UNC13D-related disorder | 0 | 10 | 0 | 4 | 3 | 0 | 0 | 7 |
| VPS13C-related disorder | 0 | 38 | 0 | 5 | 2 | 0 | 0 | 7 |
| WWOX-related disorder | 0 | 10 | 0 | 5 | 2 | 0 | 0 | 7 |
| ABCA7-related disorder | 0 | 10 | 0 | 3 | 2 | 0 | 1 | 6 |
| ABCB1-related disorder | 0 | 4 | 0 | 6 | 0 | 0 | 0 | 6 |
| ACAN-related disorder | 0 | 20 | 0 | 2 | 4 | 0 | 1 | 6 |
| ACO2-related disorder | 0 | 14 | 0 | 2 | 4 | 0 | 1 | 6 |
| ACOX2-related disorder | 0 | 29 | 0 | 1 | 4 | 0 | 1 | 6 |
| ADAMTS18-related disorder | 0 | 29 | 0 | 4 | 2 | 0 | 1 | 6 |
| ADAMTS9-related disorder | 0 | 26 | 0 | 4 | 2 | 0 | 0 | 6 |
| ADGRA3-related disorder | 0 | 15 | 0 | 4 | 2 | 0 | 0 | 6 |
| AGXT-related disorder | 0 | 10 | 0 | 4 | 2 | 0 | 0 | 6 |
| ALG1-related disorder | 0 | 6 | 0 | 2 | 3 | 0 | 1 | 6 |
| ALG8-related disorder | 0 | 8 | 0 | 2 | 4 | 0 | 0 | 6 |
| ALMS1-related disorder | 0 | 15 | 0 | 1 | 2 | 0 | 3 | 6 |
| AP3B2-related disorder | 0 | 18 | 0 | 4 | 2 | 0 | 0 | 6 |
| ARID2-related disorder | 0 | 7 | 0 | 6 | 0 | 0 | 0 | 6 |
| ARMC5-related disorder | 0 | 15 | 0 | 5 | 1 | 0 | 0 | 6 |
| ATP2B4-related disorder | 0 | 10 | 0 | 5 | 1 | 0 | 0 | 6 |
| Abnormality of metabolism/homeostasis | 0 | 13 | 0 | 6 | 0 | 0 | 1 | 6 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to | 0 | 10 | 0 | 3 | 3 | 0 | 0 | 6 |
| B3GLCT-related disorder | 0 | 1 | 0 | 3 | 3 | 0 | 0 | 6 |
| BCS1L-related disorder | 0 | 10 | 0 | 3 | 1 | 0 | 2 | 6 |
| BIRC6-related disorder | 0 | 20 | 0 | 6 | 0 | 0 | 0 | 6 |
| BLOOD GROUP--LUTHERAN INHIBITOR | 0 | 2 | 0 | 1 | 2 | 1 | 2 | 6 |
| Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 | 0 | 0 | 0 | 1 | 5 | 0 | 0 | 6 |
| C8B-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 6 |
| C9-related disorder | 0 | 9 | 0 | 3 | 3 | 0 | 0 | 6 |
| CACNA2D4-related disorder | 0 | 15 | 0 | 2 | 2 | 0 | 2 | 6 |
| CARS2-related disorder | 0 | 8 | 0 | 2 | 4 | 0 | 0 | 6 |
| CDK12-related disorder | 0 | 2 | 0 | 6 | 0 | 0 | 0 | 6 |
| CDT1-related disorder | 0 | 10 | 0 | 3 | 4 | 0 | 0 | 6 |
| CEP120-related disorder | 0 | 6 | 0 | 4 | 3 | 0 | 0 | 6 |
| CFAP418-related disorder | 0 | 24 | 0 | 0 | 4 | 0 | 2 | 6 |
| CFAP44-related disorder | 0 | 4 | 0 | 6 | 0 | 0 | 0 | 6 |
| CHMP1A-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 6 |
| CHRNB2-related disorder | 0 | 0 | 0 | 3 | 3 | 0 | 0 | 6 |
| CLASP1-related disorder | 0 | 9 | 0 | 1 | 4 | 0 | 1 | 6 |
| CNGA1-related disorder | 0 | 4 | 0 | 5 | 2 | 0 | 0 | 6 |
| CNNM4-related disorder | 0 | 6 | 0 | 5 | 1 | 0 | 0 | 6 |
| COL10A1-related disorder | 0 | 7 | 0 | 4 | 3 | 0 | 0 | 6 |
| COQ2-related disorder | 0 | 13 | 0 | 1 | 4 | 0 | 1 | 6 |
| COQ6-related disorder | 0 | 7 | 0 | 3 | 4 | 0 | 0 | 6 |
| CPA1-related disorder | 0 | 4 | 0 | 4 | 2 | 0 | 0 | 6 |
| CRB1-related disorder | 0 | 9 | 0 | 5 | 1 | 0 | 1 | 6 |
| CREB3L1-related disorder | 0 | 6 | 0 | 5 | 1 | 0 | 0 | 6 |
| CSF3R-related disorder | 0 | 3 | 0 | 2 | 4 | 0 | 0 | 6 |
| CSMD1-related disorder | 0 | 18 | 0 | 6 | 0 | 0 | 0 | 6 |
| CTNND2-related disorder | 0 | 11 | 0 | 6 | 1 | 0 | 0 | 6 |
| CUL9-related disorder | 0 | 2 | 0 | 6 | 0 | 0 | 0 | 6 |
| CYP7A1-related disorder | 0 | 14 | 0 | 1 | 6 | 0 | 0 | 6 |
| Corticosteroids response | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 6 |
| DACT1-related disorder | 0 | 4 | 0 | 6 | 0 | 0 | 0 | 6 |
| DENND5A-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 6 |
| DHX38-related disorder | 0 | 8 | 0 | 5 | 1 | 0 | 0 | 6 |
| DIS3L2-related disorder | 0 | 17 | 0 | 3 | 3 | 0 | 0 | 6 |
| DISP1-related disorder | 0 | 14 | 0 | 3 | 3 | 0 | 0 | 6 |
| DLX6-related disorder | 0 | 5 | 0 | 2 | 4 | 0 | 0 | 6 |
| DNAH8-related disorder | 0 | 14 | 0 | 1 | 5 | 0 | 0 | 6 |
| DSC2-related disorder | 0 | 13 | 0 | 2 | 4 | 0 | 0 | 6 |
| DSCAML1-related disorder | 0 | 46 | 0 | 5 | 1 | 0 | 0 | 6 |
| DVL3-related disorder | 0 | 10 | 0 | 4 | 2 | 0 | 0 | 6 |
| DYM-related disorder | 0 | 6 | 0 | 3 | 4 | 0 | 1 | 6 |
| Decreased circulating alkaline phosphatase activity | 0 | 3 | 0 | 1 | 1 | 0 | 4 | 6 |
| EBP-related disorder | 0 | 2 | 0 | 6 | 0 | 0 | 1 | 6 |
| EFTUD2-related disorder | 0 | 15 | 0 | 4 | 1 | 0 | 1 | 6 |
| EGFR-related disorder | 0 | 10 | 0 | 3 | 3 | 0 | 0 | 6 |
| EIF2AK3-related disorder | 0 | 10 | 0 | 3 | 3 | 0 | 0 | 6 |
| EML1-related disorder | 0 | 8 | 0 | 3 | 3 | 0 | 0 | 6 |
| EPCAM-related disorder | 0 | 14 | 0 | 5 | 2 | 0 | 0 | 6 |
| ESCO2-related disorder | 0 | 11 | 0 | 4 | 3 | 0 | 0 | 6 |
| ETFDH-related disorder | 0 | 7 | 0 | 3 | 2 | 0 | 1 | 6 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 0 | 5 | 0 | 1 | 2 | 0 | 3 | 6 |
| FANCL-related disorder | 0 | 2 | 0 | 1 | 4 | 0 | 2 | 6 |
| FARS2-related disorder | 0 | 3 | 0 | 5 | 1 | 0 | 0 | 6 |
| FASN-related disorder | 0 | 19 | 0 | 5 | 1 | 0 | 0 | 6 |
| FDXR-related disorder | 0 | 10 | 0 | 4 | 2 | 0 | 1 | 6 |
| FGG-related disorder | 0 | 5 | 0 | 2 | 3 | 0 | 3 | 6 |
| FLT4-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 1 | 6 |
| Flurbiprofen response | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 6 |
| G6PD-related disorder | 0 | 10 | 0 | 4 | 2 | 0 | 0 | 6 |
| GABBR2-related disorder | 0 | 7 | 0 | 5 | 0 | 0 | 1 | 6 |
| GATA4-related disorder | 0 | 16 | 0 | 3 | 3 | 0 | 0 | 6 |
| GBA1-related disorder | 0 | 8 | 0 | 3 | 2 | 1 | 2 | 6 |
| GJB3-related disorder | 0 | 9 | 0 | 6 | 3 | 0 | 0 | 6 |
| GMPPB-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 6 |
| GNE-related disorder | 0 | 7 | 0 | 0 | 6 | 0 | 0 | 6 |
| GP6-related disorder | 0 | 8 | 0 | 5 | 1 | 0 | 0 | 6 |
| GPC3-related disorder | 0 | 8 | 0 | 3 | 3 | 0 | 0 | 6 |
| GYG2-related disorder | 0 | 4 | 0 | 2 | 4 | 0 | 0 | 6 |
| Glaucoma 1, open angle, G | 0 | 5 | 0 | 2 | 2 | 0 | 2 | 6 |
| HCN1-related disorder | 0 | 5 | 0 | 5 | 2 | 0 | 0 | 6 |
| HEPACAM-related disorder | 0 | 9 | 0 | 4 | 4 | 0 | 0 | 6 |
| HOXB13-related disorder | 0 | 31 | 0 | 3 | 2 | 2 | 0 | 6 |
| HYOU1-related disorder | 0 | 18 | 0 | 4 | 2 | 0 | 0 | 6 |
| Hereditary neuropathy or pain disorder | 0 | 6 | 0 | 5 | 1 | 0 | 0 | 6 |
| Hereditary orotic aciduria, type 1 | 0 | 9 | 0 | 3 | 2 | 0 | 1 | 6 |
| IARS1-related disorder | 0 | 10 | 0 | 6 | 0 | 0 | 0 | 6 |
| INS-related disorder | 0 | 5 | 0 | 3 | 3 | 0 | 0 | 6 |
| ITGB3-related disorder | 0 | 24 | 0 | 3 | 2 | 0 | 1 | 6 |
| Incidental Discovery | 0 | 7 | 0 | 4 | 0 | 0 | 2 | 6 |
| JAK2-related disorder | 0 | 22 | 0 | 4 | 2 | 0 | 0 | 6 |
| KCNC3-related disorder | 0 | 3 | 0 | 6 | 1 | 0 | 0 | 6 |
| KIF26B-related disorder | 0 | 25 | 0 | 6 | 0 | 0 | 0 | 6 |
| KNL1-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 2 | 6 |
| KRT2-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 2 | 6 |
| LIPE-related disorder | 0 | 9 | 0 | 4 | 2 | 0 | 0 | 6 |
| Lesinurad response | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 6 |
| MADD-related disorder | 0 | 6 | 0 | 4 | 2 | 0 | 1 | 6 |
| MAMLD1-related disorder | 0 | 0 | 0 | 5 | 1 | 0 | 0 | 6 |
| MAPT-Related Spectrum Disorders | 0 | 24 | 0 | 3 | 4 | 0 | 1 | 6 |
| MARS1-related disorder | 0 | 9 | 0 | 3 | 3 | 0 | 0 | 6 |
| MECR-related disorder | 0 | 3 | 0 | 6 | 0 | 0 | 0 | 6 |
| MEGF10-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 6 |
| MESP2-related disorder | 0 | 7 | 0 | 4 | 3 | 0 | 0 | 6 |
| MFN2-related disorder | 0 | 4 | 0 | 5 | 1 | 0 | 0 | 6 |
| MMACHC-related disorder | 0 | 9 | 0 | 3 | 4 | 0 | 0 | 6 |
| MPO-related disorder | 0 | 2 | 0 | 5 | 1 | 0 | 0 | 6 |
| MYBPC1-related disorder | 0 | 4 | 0 | 3 | 3 | 0 | 0 | 6 |
| MYLK2-related disorder | 0 | 6 | 0 | 3 | 3 | 0 | 0 | 6 |
| MYOT-related disorder | 0 | 3 | 0 | 3 | 3 | 0 | 0 | 6 |
| Microscopic hematuria | 0 | 2 | 0 | 1 | 3 | 0 | 2 | 6 |
| NAGLU-related disorder | 0 | 6 | 0 | 3 | 3 | 0 | 0 | 6 |
| NDUFS2-related disorder | 0 | 6 | 0 | 4 | 2 | 0 | 0 | 6 |
| NFE2L2-related disorder | 0 | 8 | 0 | 4 | 2 | 0 | 0 | 6 |
| NHLRC1-related disorder | 0 | 1 | 0 | 2 | 5 | 0 | 0 | 6 |
| NLRP12-related disorder | 0 | 18 | 0 | 2 | 5 | 0 | 0 | 6 |
| NLRP5-related disorder | 0 | 10 | 0 | 6 | 0 | 0 | 0 | 6 |
| NR2E3-related disorder | 0 | 18 | 0 | 6 | 0 | 0 | 0 | 6 |
| NUP205-related disorder | 0 | 15 | 0 | 4 | 2 | 0 | 0 | 6 |
| PCCB-related disorder | 0 | 8 | 0 | 1 | 4 | 0 | 1 | 6 |
| PCK2-related disorder | 0 | 8 | 0 | 4 | 2 | 0 | 0 | 6 |
| PEX2-related disorder | 0 | 5 | 0 | 1 | 5 | 0 | 0 | 6 |
| PIGV-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 2 | 6 |
| PIKFYVE-related disorder | 0 | 4 | 0 | 6 | 0 | 0 | 0 | 6 |
| PLCB1-related disorder | 0 | 5 | 0 | 3 | 3 | 0 | 0 | 6 |
| PLVAP-related disorder | 0 | 6 | 0 | 5 | 1 | 0 | 0 | 6 |
| PODXL-related disorder | 0 | 16 | 0 | 5 | 1 | 0 | 0 | 6 |
| POLQ-related disorder | 0 | 16 | 0 | 5 | 1 | 0 | 0 | 6 |
| POR-related disorder | 0 | 6 | 0 | 1 | 5 | 0 | 0 | 6 |
| PROC-related disorder | 0 | 6 | 0 | 2 | 3 | 0 | 1 | 6 |
| PSTPIP1-related disorder | 0 | 5 | 0 | 3 | 3 | 0 | 0 | 6 |
| PTPRT-related disorder | 0 | 22 | 0 | 5 | 1 | 0 | 0 | 6 |
| PXDN-related disorder | 0 | 2 | 0 | 3 | 3 | 0 | 0 | 6 |
| Parkinson Disease, Dominant | 0 | 11 | 0 | 3 | 3 | 0 | 0 | 6 |
| Parkinson disease 5, autosomal dominant, susceptibility to | 0 | 9 | 0 | 3 | 3 | 0 | 0 | 6 |
| Pigmentary skin disorders | 0 | 7 | 0 | 3 | 2 | 1 | 3 | 6 |
| Piroxicam response | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 6 |
| Possible mitochondrial disorder - nuclear genes | 0 | 9 | 0 | 3 | 1 | 0 | 4 | 6 |
| Progressive cone dystrophy (without rod involvement) | 0 | 2 | 0 | 2 | 2 | 0 | 2 | 6 |
| QARS1-related disorder | 0 | 6 | 0 | 2 | 5 | 0 | 0 | 6 |
| RAB11B-related disorder | 0 | 5 | 0 | 6 | 0 | 0 | 0 | 6 |
| RAPSN-related disorder | 0 | 6 | 0 | 1 | 3 | 0 | 2 | 6 |
| RFWD3-related disorder | 0 | 9 | 0 | 3 | 3 | 0 | 0 | 6 |
| RRM2B-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 2 | 6 |
| RYR3-related disorder | 0 | 21 | 0 | 5 | 1 | 0 | 0 | 6 |
| SCARB1-related disorder | 0 | 7 | 0 | 4 | 2 | 0 | 0 | 6 |
| SCN11A-related disorder | 0 | 7 | 0 | 5 | 2 | 0 | 0 | 6 |
| SCP2-related disorder | 0 | 17 | 0 | 4 | 3 | 0 | 0 | 6 |
| SCYL1-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 6 |
| SELENON-related disorder | 0 | 3 | 0 | 3 | 5 | 0 | 0 | 6 |
| SEMA3D-related disorder | 0 | 20 | 0 | 5 | 1 | 0 | 0 | 6 |
| SEMA3E-related disorder | 0 | 21 | 0 | 1 | 5 | 0 | 0 | 6 |
| SERPINF1-related disorder | 0 | 6 | 0 | 3 | 4 | 0 | 0 | 6 |
| SETD1A-related disorder | 0 | 7 | 0 | 4 | 2 | 0 | 0 | 6 |
| SIN3A-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 6 |
| SIRT1-related disorder | 0 | 2 | 0 | 4 | 2 | 0 | 0 | 6 |
| SLC1A2-related disorder | 0 | 9 | 0 | 4 | 3 | 0 | 0 | 6 |
| SLC20A2-related disorder | 0 | 11 | 0 | 6 | 0 | 0 | 0 | 6 |
| SLC25A22-related disorder | 0 | 2 | 0 | 1 | 5 | 0 | 0 | 6 |
| SLC39A4-related disorder | 0 | 16 | 0 | 6 | 0 | 0 | 0 | 6 |
| SLC4A4-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 6 |
| SLFN14-related disorder | 0 | 3 | 0 | 5 | 2 | 0 | 0 | 6 |
| SLITRK6-related disorder | 0 | 8 | 0 | 4 | 2 | 0 | 0 | 6 |
| SMAD3-related disorder | 0 | 11 | 0 | 2 | 4 | 0 | 0 | 6 |
| SNX14-related disorder | 0 | 5 | 0 | 5 | 2 | 0 | 0 | 6 |
| SOX6-related disorder | 0 | 3 | 0 | 6 | 0 | 0 | 0 | 6 |
| SPAST-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 1 | 6 |
| STAG1-related disorder | 0 | 8 | 0 | 5 | 0 | 0 | 1 | 6 |
| STAR-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 6 |
| STIM1-related disorder | 0 | 6 | 0 | 2 | 4 | 0 | 0 | 6 |
| STXBP1-related disorder | 0 | 6 | 0 | 5 | 1 | 0 | 0 | 6 |
| Sudden unexplained death | 0 | 10 | 0 | 4 | 3 | 1 | 0 | 6 |
| Susceptibility to severe coronavirus disease (COVID-19) | 0 | 0 | 0 | 0 | 3 | 1 | 2 | 6 |
| Syndromic neurodevelopmental disorder | 0 | 1 | 0 | 4 | 0 | 0 | 2 | 6 |
| TALDO1-related disorder | 0 | 24 | 0 | 3 | 3 | 0 | 0 | 6 |
| TBK1-related disorder | 0 | 14 | 0 | 5 | 1 | 0 | 0 | 6 |
| TBX22-related disorder | 0 | 2 | 0 | 5 | 0 | 0 | 1 | 6 |
| TBX5-related disorder | 0 | 8 | 0 | 5 | 2 | 0 | 0 | 6 |
| TGFBR1-related disorder | 0 | 11 | 0 | 1 | 6 | 0 | 0 | 6 |
| TH-related disorder | 0 | 5 | 0 | 2 | 4 | 0 | 0 | 6 |
| THBD-related disorder | 0 | 9 | 0 | 4 | 3 | 0 | 0 | 6 |
| TMEM107-related disorder | 0 | 11 | 0 | 3 | 2 | 0 | 2 | 6 |
| TMEM127-related disorder | 0 | 1 | 0 | 4 | 2 | 0 | 0 | 6 |
| TMEM216-related disorder | 0 | 4 | 0 | 1 | 5 | 0 | 0 | 6 |
| TMEM231-related disorder | 0 | 11 | 0 | 2 | 4 | 0 | 0 | 6 |
| TNFRSF11A-related disorder | 0 | 12 | 0 | 3 | 5 | 0 | 0 | 6 |
| TNNI3-related disorder | 0 | 2 | 0 | 4 | 0 | 0 | 2 | 6 |
| TPP1-related disorder | 0 | 12 | 0 | 2 | 3 | 0 | 1 | 6 |
| TRMT5-related disorder | 0 | 10 | 0 | 6 | 0 | 0 | 1 | 6 |
| TRPC6-related disorder | 0 | 9 | 0 | 4 | 2 | 0 | 0 | 6 |
| TRPM3-related disorder | 0 | 10 | 0 | 6 | 0 | 0 | 0 | 6 |
| TRPM6-related disorder | 0 | 6 | 0 | 5 | 2 | 0 | 0 | 6 |
| TRPV3-related disorder | 0 | 8 | 0 | 5 | 1 | 0 | 0 | 6 |
| TRPV6-related disorder | 0 | 16 | 0 | 6 | 0 | 0 | 0 | 6 |
| TSFM-related disorder | 0 | 4 | 0 | 5 | 2 | 0 | 0 | 6 |
| TYRP1-related disorder | 0 | 9 | 0 | 1 | 2 | 0 | 3 | 6 |
| UNC45A-related disorder | 0 | 20 | 0 | 6 | 0 | 0 | 0 | 6 |
| WARS2-related disorder | 0 | 8 | 0 | 5 | 1 | 0 | 2 | 6 |
| XDH-related disorder | 0 | 5 | 0 | 1 | 4 | 0 | 1 | 6 |
| XRCC2-related disorder | 0 | 11 | 0 | 4 | 4 | 0 | 0 | 6 |
| XYLT2-related disorder | 0 | 28 | 0 | 4 | 2 | 0 | 0 | 6 |
| YARS2-related disorder | 0 | 7 | 0 | 4 | 2 | 0 | 0 | 6 |
| ZFHX4-related disorder | 0 | 9 | 0 | 5 | 1 | 0 | 0 | 6 |
| ZNF142-related disorder | 0 | 16 | 0 | 6 | 0 | 0 | 0 | 6 |
| ZNF423-related disorder | 0 | 8 | 0 | 4 | 2 | 0 | 0 | 6 |
| maculopathy | 0 | 6 | 0 | 3 | 0 | 0 | 3 | 6 |
| warfarin response - Dosage | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 6 |
| ABCA13-related disorder | 0 | 3 | 0 | 5 | 0 | 0 | 0 | 5 |
| ABCA2-related disorder | 0 | 8 | 0 | 3 | 2 | 0 | 0 | 5 |
| ADAMTS10-related disorder | 0 | 16 | 0 | 4 | 1 | 0 | 0 | 5 |
| ADAMTS17-related disorder | 0 | 13 | 0 | 3 | 2 | 0 | 0 | 5 |
| ADCY1-related disorder | 0 | 10 | 0 | 5 | 0 | 0 | 0 | 5 |
| ADGRE2-related disorder | 0 | 13 | 0 | 4 | 1 | 0 | 0 | 5 |
| AFF4-related disorder | 0 | 18 | 0 | 1 | 4 | 0 | 0 | 5 |
| AGPAT2-related disorder | 0 | 5 | 0 | 3 | 3 | 0 | 0 | 5 |
| AIRE-related disorder | 0 | 13 | 0 | 3 | 1 | 0 | 1 | 5 |
| AK2-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 5 |
| AKR1D1-related disorder | 0 | 4 | 0 | 0 | 5 | 0 | 0 | 5 |
| ALDH18A1-related disorder | 0 | 19 | 0 | 1 | 2 | 0 | 2 | 5 |
| ALDH4A1-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 5 |
| ALDH7A1-related disorder | 0 | 9 | 0 | 1 | 3 | 0 | 2 | 5 |
| ANO3-related disorder | 0 | 2 | 0 | 4 | 1 | 0 | 0 | 5 |
| AP3B1-related disorder | 0 | 6 | 0 | 1 | 4 | 0 | 0 | 5 |
| AP5Z1-related disorder | 0 | 9 | 0 | 2 | 3 | 0 | 0 | 5 |
| APBA2-related disorder | 0 | 13 | 0 | 5 | 0 | 0 | 0 | 5 |
| ARHGEF18-related disorder | 0 | 24 | 0 | 5 | 0 | 0 | 0 | 5 |
| ARIH1-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 5 |
| ARMC9-related disorder | 0 | 14 | 0 | 4 | 1 | 0 | 0 | 5 |
| ARSA-related disorder | 0 | 8 | 0 | 2 | 3 | 0 | 1 | 5 |
| ARSL-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 1 | 5 |
| ASH1L-related disorder | 0 | 25 | 0 | 4 | 1 | 0 | 0 | 5 |
| ASNS-related disorder | 0 | 6 | 0 | 5 | 0 | 0 | 0 | 5 |
| ATP13A3-related disorder | 0 | 9 | 0 | 5 | 0 | 0 | 0 | 5 |
| ATP2A2-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
| ATP2B2-related disorder | 0 | 17 | 0 | 3 | 2 | 0 | 0 | 5 |
| ATP6AP1-related disorder | 0 | 1 | 0 | 1 | 4 | 0 | 0 | 5 |
| ATP6V1B1-related disorder | 0 | 17 | 0 | 3 | 3 | 0 | 0 | 5 |
| Aculeiform cataract | 0 | 11 | 0 | 4 | 1 | 0 | 0 | 5 |
| Associated with severe COVID-19 disease | 0 | 0 | 0 | 0 | 4 | 0 | 1 | 5 |
| Autosomal dominant retinitis pigmentosa | 0 | 2 | 0 | 3 | 0 | 0 | 2 | 5 |
| BBS4-related disorder | 0 | 14 | 0 | 0 | 5 | 0 | 0 | 5 |
| BCOR-related disorder | 0 | 13 | 0 | 2 | 3 | 0 | 0 | 5 |
| BIVM-ERCC5-related disorder | 0 | 7 | 0 | 3 | 2 | 0 | 0 | 5 |
| Blood group, ER | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| CABIN1-related disorder | 0 | 21 | 0 | 5 | 0 | 0 | 0 | 5 |
| CACNA1I-related disorder | 0 | 14 | 0 | 5 | 0 | 0 | 0 | 5 |
| CAPN5-related disorder | 0 | 18 | 0 | 3 | 2 | 0 | 0 | 5 |
| CARD11-related disorder | 0 | 10 | 0 | 3 | 2 | 0 | 0 | 5 |
| CCBE1-related disorder | 0 | 12 | 0 | 2 | 2 | 0 | 1 | 5 |
| CCDC78-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
| CDC14A-related disorder | 0 | 6 | 0 | 5 | 0 | 0 | 0 | 5 |
| CEBPA-related disorder | 0 | 8 | 0 | 3 | 2 | 0 | 0 | 5 |
| CEP41-related disorder | 0 | 2 | 0 | 0 | 4 | 0 | 1 | 5 |
| CETP-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| CHAMP1-related disorder | 0 | 14 | 0 | 4 | 1 | 0 | 0 | 5 |
| CHAT-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 5 |
| CLCN7-related disorder | 0 | 16 | 0 | 3 | 2 | 0 | 0 | 5 |
| CLN8-related disorder | 0 | 2 | 0 | 2 | 3 | 0 | 0 | 5 |
| COASY-related disorder | 0 | 4 | 0 | 2 | 3 | 0 | 0 | 5 |
| COG5-related disorder | 0 | 6 | 0 | 3 | 2 | 0 | 0 | 5 |
| COLGALT1-related disorder | 0 | 13 | 0 | 3 | 2 | 0 | 0 | 5 |
| COQ8B-related disorder | 0 | 9 | 0 | 3 | 4 | 0 | 0 | 5 |
| COQ9-related disorder | 0 | 6 | 0 | 2 | 3 | 0 | 0 | 5 |
| CR2-related disorder | 0 | 8 | 0 | 4 | 2 | 0 | 0 | 5 |
| CRPPA-related disorder | 0 | 3 | 0 | 1 | 4 | 0 | 0 | 5 |
| CSGALNACT1-related disorder | 0 | 12 | 0 | 5 | 0 | 0 | 0 | 5 |
| CSPP1-related disorder | 0 | 8 | 0 | 2 | 3 | 0 | 0 | 5 |
| CTC1-related disorder | 0 | 12 | 0 | 1 | 3 | 0 | 1 | 5 |
| CTSD-related disorder | 0 | 0 | 0 | 0 | 5 | 0 | 0 | 5 |
| CTSF-related disorder | 0 | 4 | 0 | 2 | 3 | 0 | 0 | 5 |
| CYP11B1-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 2 | 5 |
| CYP17A1-related disorder | 0 | 8 | 0 | 4 | 1 | 0 | 0 | 5 |
| CYP21A2-related disorder | 0 | 12 | 0 | 2 | 2 | 0 | 2 | 5 |
| CYP24A1-related disorder | 0 | 2 | 0 | 3 | 2 | 0 | 0 | 5 |
| CYP26B1-related disorder | 0 | 2 | 0 | 5 | 2 | 0 | 0 | 5 |
| Congenital NAD deficiency disorder | 0 | 4 | 0 | 4 | 0 | 0 | 1 | 5 |
| D2HGDH-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 1 | 5 |
| DAAM2-related disorder | 0 | 2 | 0 | 3 | 2 | 0 | 0 | 5 |
| DARS2-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| DCAF17-related disorder | 0 | 2 | 0 | 1 | 4 | 0 | 0 | 5 |
| DCPS-related disorder | 0 | 1 | 0 | 5 | 0 | 0 | 0 | 5 |
| DGAT1-related disorder | 0 | 9 | 0 | 4 | 1 | 0 | 0 | 5 |
| DHX37-related disorder | 0 | 29 | 0 | 3 | 2 | 0 | 0 | 5 |
| DNAAF4-related disorder | 0 | 0 | 0 | 3 | 2 | 0 | 0 | 5 |
| DNAJC6-related disorder | 0 | 1 | 0 | 4 | 1 | 0 | 0 | 5 |
| DPYS-related disorder | 0 | 3 | 0 | 5 | 0 | 0 | 0 | 5 |
| DRP2-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 1 | 5 |
| DSG4-related disorder | 0 | 10 | 0 | 3 | 2 | 0 | 0 | 5 |
| Debrisoquine, poor metabolism of | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| Deutetrabenazine response | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus | 0 | 13 | 0 | 5 | 0 | 0 | 0 | 5 |
| EARS2-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 0 | 5 |
| ECEL1-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| ECHS1-related disorder | 0 | 7 | 0 | 3 | 2 | 0 | 1 | 5 |
| EFEMP1-related disorder | 0 | 2 | 0 | 4 | 2 | 0 | 0 | 5 |
| EIF2AK4-related disorder | 0 | 4 | 0 | 5 | 0 | 0 | 0 | 5 |
| EIF2B3-related disorder | 0 | 5 | 0 | 4 | 2 | 0 | 0 | 5 |
| ELAC2-related disorder | 0 | 4 | 0 | 2 | 4 | 0 | 0 | 5 |
| ERCC4-related disorder | 0 | 6 | 0 | 2 | 3 | 0 | 1 | 5 |
| EZH2-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 0 | 0 | 1 | 1 | 3 | 0 | 0 | 5 |
| Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency | 0 | 28 | 0 | 2 | 3 | 0 | 0 | 5 |
| FAM111A-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| FANCB-related disorder | 0 | 8 | 0 | 2 | 3 | 0 | 0 | 5 |
| FAT3-related disorder | 0 | 24 | 0 | 5 | 0 | 0 | 0 | 5 |
| FGD4-related disorder | 0 | 6 | 0 | 5 | 1 | 0 | 0 | 5 |
| FGF3-related disorder | 0 | 1 | 0 | 5 | 0 | 0 | 0 | 5 |
| FRMPD4-related disorder | 0 | 8 | 0 | 5 | 0 | 0 | 0 | 5 |
| FSCN2-related disorder | 0 | 9 | 0 | 3 | 2 | 0 | 0 | 5 |
| FSHR-related disorder | 0 | 0 | 0 | 3 | 3 | 0 | 0 | 5 |
| FTL-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
| FZD2-related disorder | 0 | 2 | 0 | 5 | 0 | 0 | 0 | 5 |
| GABRA1-related disorder | 0 | 1 | 0 | 2 | 3 | 0 | 0 | 5 |
| GABRA2-related disorder | 0 | 6 | 0 | 3 | 2 | 0 | 0 | 5 |
| GARS1-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 5 |
| GCLC-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 5 |
| GFAP-related disorder | 0 | 12 | 0 | 4 | 1 | 0 | 0 | 5 |
| GH1-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
| GLMN-related disorder | 0 | 3 | 0 | 5 | 0 | 0 | 0 | 5 |
| GNAO1-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 1 | 5 |
| GPAA1-related disorder | 0 | 9 | 0 | 5 | 0 | 0 | 0 | 5 |
| GRM1-related disorder | 0 | 5 | 0 | 4 | 2 | 0 | 0 | 5 |
| GSDME-related disorder | 0 | 3 | 0 | 4 | 2 | 0 | 0 | 5 |
| GSN-related disorder | 0 | 17 | 0 | 5 | 0 | 0 | 0 | 5 |
| GTPBP3-related disorder | 0 | 9 | 0 | 3 | 2 | 0 | 0 | 5 |
| HADHA-related disorder | 0 | 14 | 0 | 0 | 4 | 0 | 1 | 5 |
| HCFC1-related disorder | 0 | 12 | 0 | 4 | 1 | 0 | 0 | 5 |
| HFE-related disorder | 0 | 2 | 0 | 1 | 3 | 1 | 0 | 5 |
| HMOX1-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
| HRAS-related disorder | 0 | 17 | 0 | 4 | 1 | 0 | 0 | 5 |
| Haemorrhagic telangiectasia 1 | 0 | 0 | 0 | 2 | 3 | 0 | 0 | 5 |
| Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 | 0 | 9 | 0 | 1 | 4 | 0 | 0 | 5 |
| IARS2-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| IDUA-related disorder | 0 | 9 | 0 | 1 | 3 | 0 | 1 | 5 |
| IL17RD-related disorder | 0 | 5 | 0 | 5 | 0 | 0 | 0 | 5 |
| ILDR1-related disorder | 0 | 0 | 0 | 4 | 2 | 0 | 0 | 5 |
| IQCB1-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 0 | 5 |
| IREB2-related disorder | 0 | 3 | 0 | 5 | 0 | 0 | 0 | 5 |
| Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 0 | 24 | 0 | 3 | 2 | 0 | 0 | 5 |
| JAK1-related disorder | 0 | 19 | 0 | 3 | 2 | 0 | 0 | 5 |
| KANK4-related disorder | 0 | 19 | 0 | 3 | 2 | 0 | 0 | 5 |
| KCNA5-related disorder | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
| KCNJ11-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 2 | 5 |
| KCNN4-related disorder | 0 | 2 | 0 | 3 | 2 | 0 | 0 | 5 |
| KCNQ5-related disorder | 0 | 19 | 0 | 4 | 1 | 0 | 0 | 5 |
| KDM1A-related disorder | 0 | 9 | 0 | 3 | 2 | 0 | 0 | 5 |
| KDM3B-related disorder | 0 | 14 | 0 | 4 | 1 | 0 | 0 | 5 |
| KL-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 5 |
| KMT5B-related disorder | 0 | 8 | 0 | 4 | 1 | 0 | 0 | 5 |
| KRIT1-related disorder | 0 | 11 | 0 | 2 | 2 | 0 | 1 | 5 |
| KRT1-related disorder | 0 | 9 | 0 | 2 | 3 | 0 | 0 | 5 |
| KRT16-related disorder | 0 | 8 | 0 | 5 | 0 | 0 | 0 | 5 |
| KRT85-related disorder | 0 | 2 | 0 | 5 | 0 | 0 | 0 | 5 |
| LAMP2-related disorder | 0 | 4 | 0 | 4 | 3 | 0 | 0 | 5 |
| LARGE1-related disorder | 0 | 4 | 0 | 2 | 3 | 0 | 0 | 5 |
| LARS1-related disorder | 0 | 6 | 0 | 5 | 0 | 0 | 1 | 5 |
| LEP-related disorder | 0 | 8 | 0 | 2 | 3 | 0 | 0 | 5 |
| LHCGR-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 5 |
| LIG1-related disorder | 0 | 17 | 0 | 4 | 1 | 0 | 0 | 5 |
| LPIN1-related disorder | 0 | 17 | 0 | 4 | 1 | 0 | 0 | 5 |
| LRP6-related disorder | 0 | 6 | 0 | 4 | 2 | 0 | 0 | 5 |
| LRTOMT-related disorder | 0 | 5 | 0 | 4 | 1 | 0 | 0 | 5 |
| LZTFL1-related disorder | 0 | 26 | 0 | 3 | 2 | 0 | 0 | 5 |
| LZTS1-related disorder | 0 | 13 | 0 | 4 | 1 | 0 | 0 | 5 |
| Left ventricular hypertrophy | 0 | 6 | 0 | 0 | 3 | 0 | 2 | 5 |
| MANBA-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 0 | 5 |
| MAP2K1-related disorder | 0 | 10 | 0 | 4 | 1 | 0 | 0 | 5 |
| MATR3-related disorder | 0 | 6 | 0 | 3 | 3 | 0 | 0 | 5 |
| MC3R-related disorder | 0 | 13 | 0 | 2 | 2 | 0 | 1 | 5 |
| MCM4-related disorder | 0 | 9 | 0 | 4 | 1 | 0 | 0 | 5 |
| MED17-related disorder | 0 | 5 | 0 | 5 | 0 | 0 | 0 | 5 |
| MEN1-related disorder | 0 | 23 | 0 | 1 | 2 | 0 | 2 | 5 |
| MLPH-related disorder | 0 | 12 | 0 | 5 | 1 | 0 | 0 | 5 |
| MOCS1-related disorder | 0 | 9 | 0 | 3 | 3 | 0 | 0 | 5 |
| MPI-related disorder | 0 | 1 | 0 | 3 | 2 | 0 | 1 | 5 |
| MYCN-related disorder | 0 | 8 | 0 | 2 | 2 | 0 | 1 | 5 |
| MYO16-related disorder | 0 | 22 | 0 | 5 | 0 | 0 | 0 | 5 |
| MYOC-related disorder | 0 | 4 | 0 | 4 | 1 | 0 | 2 | 5 |
| MYT1-related disorder | 0 | 10 | 0 | 5 | 0 | 0 | 0 | 5 |
| NAA10-related disorder | 0 | 4 | 0 | 4 | 1 | 0 | 1 | 5 |
| NCAPD3-related disorder | 0 | 8 | 0 | 3 | 2 | 0 | 0 | 5 |
| NCF2-related disorder | 0 | 1 | 0 | 3 | 2 | 0 | 0 | 5 |
| NDRG1-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 0 | 5 |
| NDST1-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| NDUFAF5-related disorder | 0 | 5 | 0 | 4 | 1 | 0 | 0 | 5 |
| NEXN-related disorder | 0 | 10 | 0 | 1 | 4 | 0 | 0 | 5 |
| NF2-related disorder | 0 | 9 | 0 | 1 | 4 | 0 | 0 | 5 |
| NHERF1-related disorder | 0 | 6 | 0 | 3 | 2 | 0 | 0 | 5 |
| NKX3-2-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 5 |
| NNT-related disorder | 0 | 11 | 0 | 4 | 1 | 0 | 0 | 5 |
| NOS1-related disorder | 0 | 14 | 0 | 4 | 1 | 0 | 0 | 5 |
| NPC2-related disorder | 0 | 1 | 0 | 0 | 5 | 0 | 0 | 5 |
| NRAS-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 5 |
| Nephrotic range proteinuria | 0 | 1 | 2 | 2 | 0 | 0 | 2 | 5 |
| Nonsyndromic cleft lip palate | 0 | 0 | 0 | 0 | 0 | 0 | 5 | 5 |
| Nuclear pulverulent cataract | 0 | 2 | 0 | 3 | 0 | 0 | 2 | 5 |
| OAS1-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| OCRL-related disorder | 0 | 1 | 0 | 2 | 3 | 0 | 0 | 5 |
| OGDHL-related disorder | 0 | 3 | 0 | 5 | 0 | 0 | 0 | 5 |
| OPTN-related disorder | 0 | 11 | 0 | 4 | 1 | 0 | 0 | 5 |
| OSGEP-related disorder | 0 | 2 | 0 | 4 | 1 | 0 | 0 | 5 |
| P3H1-related disorder | 0 | 10 | 0 | 2 | 3 | 0 | 0 | 5 |
| PARS2-related disorder | 0 | 2 | 0 | 4 | 1 | 0 | 0 | 5 |
| PAX1-related disorder | 0 | 7 | 0 | 5 | 0 | 0 | 0 | 5 |
| PC-related disorder | 0 | 11 | 0 | 2 | 2 | 0 | 1 | 5 |
| PCDH12-related disorder | 0 | 9 | 0 | 5 | 0 | 0 | 0 | 5 |
| PDE3A-related disorder | 0 | 8 | 0 | 5 | 0 | 0 | 0 | 5 |
| PDHX-related disorder | 0 | 6 | 0 | 4 | 2 | 0 | 0 | 5 |
| PEX16-related disorder | 0 | 9 | 0 | 0 | 5 | 0 | 0 | 5 |
| PEX3-related disorder | 0 | 8 | 0 | 1 | 4 | 0 | 0 | 5 |
| PGAP3-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 5 |
| PHF6-related disorder | 0 | 3 | 0 | 0 | 4 | 0 | 1 | 5 |
| PIBF1-related disorder | 0 | 3 | 0 | 4 | 0 | 0 | 1 | 5 |
| PLEKHG2-related disorder | 0 | 14 | 0 | 3 | 1 | 0 | 1 | 5 |
| PLG-related disorder | 0 | 13 | 0 | 4 | 2 | 0 | 0 | 5 |
| PLS3-related disorder | 0 | 0 | 0 | 4 | 1 | 0 | 0 | 5 |
| PLXNB1-related disorder | 0 | 8 | 0 | 5 | 0 | 0 | 0 | 5 |
| POT1-related disorder | 0 | 12 | 0 | 2 | 3 | 0 | 0 | 5 |
| PPCS-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 5 |
| PPP1R15B-related disorder | 0 | 5 | 0 | 2 | 3 | 0 | 0 | 5 |
| PPP2R5D-related disorder | 0 | 10 | 0 | 2 | 3 | 0 | 0 | 5 |
| PQBP1-related disorder | 0 | 4 | 0 | 3 | 3 | 0 | 0 | 5 |
| PRKAG2-related disorder | 0 | 8 | 0 | 1 | 4 | 0 | 0 | 5 |
| PRKDC-related disorder | 0 | 5 | 0 | 3 | 3 | 0 | 0 | 5 |
| PRMT7-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| PROK2-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 3 | 5 |
| PROP1-related disorder | 0 | 2 | 0 | 2 | 4 | 0 | 0 | 5 |
| PROS1-related disorder | 0 | 7 | 0 | 3 | 3 | 0 | 0 | 5 |
| PRPF4-related disorder | 0 | 1 | 0 | 5 | 0 | 0 | 0 | 5 |
| PRPF8-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 1 | 5 |
| PRPH-related disorder | 0 | 0 | 0 | 4 | 1 | 0 | 0 | 5 |
| PSEN2-related disorder | 0 | 3 | 0 | 0 | 4 | 0 | 1 | 5 |
| PTPRC-related disorder | 0 | 7 | 0 | 2 | 5 | 0 | 0 | 5 |
| PURA-related disorder | 0 | 4 | 0 | 5 | 0 | 0 | 0 | 5 |
| Parkinson disease 11, autosomal dominant, susceptibility to | 0 | 5 | 0 | 2 | 0 | 0 | 3 | 5 |
| RARS1-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 5 |
| RARS2-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 1 | 5 |
| RBBP8-related disorder | 0 | 8 | 0 | 3 | 2 | 0 | 0 | 5 |
| RBM10-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| RDX-related disorder | 0 | 4 | 0 | 4 | 1 | 0 | 0 | 5 |
| REV3L-related disorder | 0 | 17 | 0 | 5 | 0 | 0 | 0 | 5 |
| RGS9-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 5 |
| RIPOR2-related disorder | 0 | 12 | 0 | 4 | 1 | 0 | 0 | 5 |
| RLBP1-related disorder | 0 | 8 | 0 | 4 | 1 | 0 | 0 | 5 |
| RMRP-related disorder | 0 | 5 | 0 | 1 | 3 | 0 | 1 | 5 |
| RNASEH1-related disorder | 0 | 10 | 0 | 4 | 1 | 0 | 0 | 5 |
| ROBO3-related disorder | 0 | 12 | 0 | 4 | 1 | 0 | 0 | 5 |
| RP1-related disorder | 0 | 20 | 0 | 3 | 3 | 0 | 0 | 5 |
| RPE65-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 1 | 5 |
| SAG-related disorder | 0 | 11 | 0 | 2 | 3 | 0 | 0 | 5 |
| SASH1-related disorder | 0 | 5 | 0 | 5 | 0 | 0 | 0 | 5 |
| SBF2-related disorder | 0 | 7 | 0 | 3 | 3 | 0 | 0 | 5 |
| SCN1B-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 5 |
| SEMA3C-related disorder | 0 | 12 | 0 | 4 | 1 | 0 | 0 | 5 |
| SERPING1-related disorder | 0 | 11 | 0 | 1 | 4 | 0 | 0 | 5 |
| SGCD-related disorder | 0 | 3 | 0 | 3 | 4 | 0 | 0 | 5 |
| SIL1-related disorder | 0 | 3 | 0 | 5 | 1 | 0 | 0 | 5 |
| SKIC2-related disorder | 0 | 14 | 0 | 4 | 1 | 0 | 0 | 5 |
| SLC22A5-related disorder | 0 | 11 | 0 | 2 | 2 | 0 | 1 | 5 |
| SLC2A9-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 1 | 5 |
| SLC34A1-related disorder | 0 | 15 | 0 | 3 | 1 | 0 | 2 | 5 |
| SLC38A8-related disorder | 0 | 14 | 0 | 5 | 0 | 0 | 0 | 5 |
| SLC4A11-related disorder | 0 | 12 | 0 | 5 | 0 | 0 | 0 | 5 |
| SLC52A2-related disorder | 0 | 3 | 0 | 1 | 4 | 0 | 0 | 5 |
| SLC5A5-related disorder | 0 | 8 | 0 | 5 | 0 | 0 | 0 | 5 |
| SLCO2A1-related disorder | 0 | 6 | 0 | 5 | 0 | 0 | 0 | 5 |
| SLIT2-related disorder | 0 | 22 | 0 | 3 | 2 | 0 | 0 | 5 |
| SOD1-related disorder | 0 | 12 | 0 | 3 | 0 | 0 | 3 | 5 |
| SOX17-related disorder | 0 | 5 | 0 | 5 | 0 | 0 | 0 | 5 |
| SOX4-related disorder | 0 | 6 | 0 | 5 | 0 | 0 | 0 | 5 |
| SPINK1-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 0 | 5 |
| SRP54-related disorder | 0 | 2 | 0 | 5 | 0 | 0 | 0 | 5 |
| ST14-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| Semidominant ALPL-related disorders | 0 | 4 | 0 | 5 | 0 | 0 | 1 | 5 |
| Susceptibility to severe COVID-19 | 0 | 0 | 1 | 0 | 0 | 0 | 5 | 5 |
| TANC2-related disorder | 0 | 16 | 0 | 4 | 1 | 0 | 0 | 5 |
| TBX20-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| TCF4-related disorder | 0 | 9 | 0 | 3 | 4 | 0 | 0 | 5 |
| TGM5-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 5 |
| THRB-related disorder | 0 | 10 | 0 | 3 | 0 | 0 | 2 | 5 |
| TINF2-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 1 | 5 |
| TNFRSF13B-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 3 | 5 |
| TNK2-related disorder | 0 | 4 | 0 | 4 | 1 | 0 | 0 | 5 |
| TRAK1-related disorder | 0 | 20 | 0 | 5 | 0 | 0 | 0 | 5 |
| TRIM8-related disorder | 0 | 6 | 0 | 5 | 0 | 0 | 0 | 5 |
| TSEN2-related disorder | 0 | 5 | 0 | 5 | 1 | 0 | 0 | 5 |
| TTBK2-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 5 |
| TTC7A-related disorder | 0 | 11 | 0 | 3 | 2 | 0 | 0 | 5 |
| TTC8-related disorder | 0 | 8 | 0 | 2 | 3 | 0 | 0 | 5 |
| TTLL5-related disorder | 0 | 16 | 0 | 3 | 1 | 0 | 1 | 5 |
| TXNRD2-related disorder | 0 | 13 | 0 | 2 | 3 | 0 | 0 | 5 |
| Tamoxifen response | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| Thalidomide response | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| UCP3-related disorder | 0 | 39 | 0 | 2 | 3 | 0 | 0 | 5 |
| UPB1-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 2 | 5 |
| UTP4-related disorder | 0 | 19 | 0 | 3 | 3 | 0 | 0 | 5 |
| VDR-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 5 |
| WAS-related disorder | 0 | 6 | 0 | 3 | 3 | 0 | 0 | 5 |
| WDR1-related disorder | 0 | 19 | 0 | 4 | 1 | 0 | 0 | 5 |
| WDR72-related disorder | 0 | 0 | 0 | 1 | 4 | 0 | 0 | 5 |
| WNK1-related disorder | 0 | 7 | 0 | 1 | 4 | 0 | 0 | 5 |
| WNK4-related disorder | 0 | 7 | 0 | 5 | 1 | 0 | 0 | 5 |
| XPC-related disorder | 0 | 9 | 0 | 3 | 2 | 0 | 0 | 5 |
| XPO1-associated Neurodevelopmental Disorder | 0 | 0 | 0 | 0 | 0 | 0 | 5 | 5 |
| ZFPM2-related disorder | 0 | 1 | 0 | 4 | 3 | 0 | 0 | 5 |
| ZFYVE26-related disorder | 0 | 7 | 0 | 2 | 3 | 0 | 0 | 5 |
| ZNF462-related disorder | 0 | 22 | 0 | 5 | 0 | 0 | 0 | 5 |
| ACAT1-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 1 | 4 |
| ACOX1-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 4 |
| ACTG2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 2 | 4 |
| ADA-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 1 | 4 |
| ADAM22-related disorder | 0 | 12 | 0 | 3 | 1 | 0 | 0 | 4 |
| ADAT3-related disorder | 0 | 4 | 0 | 0 | 4 | 0 | 0 | 4 |
| ADGRL2-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| ADSL-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 4 |
| AFF2-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| AFG3L2-related disorder | 0 | 6 | 0 | 2 | 3 | 0 | 1 | 4 |
| AGBL5-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 4 |
| AGK-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| AGO1-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| AGT-related disorder | 0 | 8 | 0 | 4 | 1 | 0 | 0 | 4 |
| AIFM1-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 1 | 4 |
| ALDH3A2-related disorder | 0 | 4 | 0 | 4 | 1 | 0 | 0 | 4 |
| ALG6-related disorder | 0 | 2 | 0 | 4 | 0 | 0 | 0 | 4 |
| ALKBH8-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| ANKLE2-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| ANKRD1-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 0 | 4 |
| ANKS6-related disorder | 0 | 6 | 0 | 0 | 4 | 0 | 0 | 4 |
| AP4E1-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| AP4M1-related disorder | 0 | 5 | 0 | 0 | 4 | 0 | 0 | 4 |
| APP-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 1 | 4 |
| ARSG-related disorder | 0 | 17 | 0 | 2 | 2 | 0 | 0 | 4 |
| ATP10A-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| ATP2A3-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 0 | 4 |
| ATP5F1A-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 1 | 4 |
| ATP6V0A4-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| ATP6V1A-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| Autosomal recessive USH2A-related disorders | 0 | 2 | 0 | 4 | 0 | 0 | 1 | 4 |
| BAG3-related disorder | 0 | 20 | 0 | 3 | 2 | 0 | 0 | 4 |
| BBIP1-related disorder | 0 | 18 | 0 | 0 | 4 | 0 | 0 | 4 |
| BBS2-related disorder | 0 | 22 | 0 | 0 | 4 | 0 | 0 | 4 |
| BBS5-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 1 | 4 |
| BCKDHB-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 2 | 4 |
| BDNF-related disorder | 0 | 10 | 0 | 1 | 3 | 0 | 0 | 4 |
| BDP1-related disorder | 0 | 17 | 0 | 3 | 1 | 0 | 0 | 4 |
| BGN-related disorder | 0 | 8 | 0 | 2 | 2 | 0 | 0 | 4 |
| BLOC1S3-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 0 | 4 |
| BMP1-related disorder | 0 | 20 | 0 | 4 | 0 | 0 | 0 | 4 |
| BMPER-related disorder | 0 | 2 | 0 | 4 | 0 | 0 | 0 | 4 |
| C1S-related disorder | 0 | 17 | 0 | 2 | 2 | 0 | 0 | 4 |
| CA4-related disorder | 0 | 6 | 0 | 1 | 3 | 0 | 1 | 4 |
| CABP2-related disorder | 0 | 1 | 0 | 4 | 1 | 0 | 0 | 4 |
| CANT1-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 4 |
| CAPN12-related disorder | 0 | 17 | 0 | 4 | 0 | 0 | 0 | 4 |
| CAPN15-related disorder | 0 | 20 | 0 | 3 | 1 | 0 | 0 | 4 |
| CASQ1-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| CCDC40-related disorder | 0 | 4 | 0 | 0 | 4 | 0 | 0 | 4 |
| CCDC50-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 4 |
| CCN6-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 0 | 4 |
| CCND2-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 1 | 4 |
| CD164-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| CDC45-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 4 |
| CDSN-related disorder | 0 | 11 | 0 | 4 | 0 | 0 | 0 | 4 |
| CEACAM16-related disorder | 0 | 9 | 0 | 3 | 1 | 0 | 0 | 4 |
| CENPE-related disorder | 0 | 11 | 0 | 4 | 0 | 0 | 0 | 4 |
| CEP78-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| CFAP43-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| CHRNA1-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
| CHRNG-related disorder | 0 | 8 | 0 | 1 | 2 | 0 | 1 | 4 |
| CKAP2L-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| CLN3-related disorder | 0 | 3 | 0 | 1 | 3 | 0 | 0 | 4 |
| CNGB3-related disorder | 0 | 11 | 0 | 1 | 3 | 0 | 0 | 4 |
| COG8-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 4 |
| COX15-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
| CPE-related disorder | 0 | 14 | 0 | 3 | 1 | 0 | 0 | 4 |
| CRELD1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 2 | 4 |
| CRYM-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 4 |
| CTH-related disorder | 0 | 0 | 0 | 4 | 0 | 0 | 1 | 4 |
| CTNS-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 0 | 4 |
| CUL3-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 1 | 4 |
| CWC27-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 0 | 4 |
| CYB5R3-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| CYFIP2-related disorder | 0 | 10 | 0 | 3 | 1 | 0 | 0 | 4 |
| CYP11A1-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| CYP11B2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 2 | 4 |
| CYP1B1-related disorder | 0 | 8 | 0 | 2 | 2 | 0 | 1 | 4 |
| CYP2C19: no function | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 4 |
| CYP2U1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 2 | 4 |
| CYP4F22-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 4 |
| Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion | 0 | 14 | 0 | 1 | 3 | 0 | 0 | 4 |
| Cleft lip with or without cleft palate | 0 | 0 | 0 | 2 | 0 | 0 | 2 | 4 |
| Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to | 0 | 12 | 0 | 4 | 0 | 0 | 0 | 4 |
| Creatine deficiency syndrome 1 | 0 | 24 | 0 | 2 | 2 | 0 | 0 | 4 |
| DDR2-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| DGKD-related disorder | 0 | 7 | 0 | 4 | 1 | 0 | 0 | 4 |
| DIP2B-related disorder | 0 | 3 | 0 | 3 | 2 | 0 | 0 | 4 |
| DISC1-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| DLG4-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| DLL3-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 1 | 4 |
| DLL4-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| DNAH6-related disorder | 0 | 17 | 0 | 4 | 0 | 0 | 0 | 4 |
| DNAJB6-related disorder | 0 | 0 | 0 | 0 | 4 | 0 | 0 | 4 |
| DNM1-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 1 | 4 |
| DOCK7-related disorder | 0 | 6 | 0 | 1 | 3 | 0 | 0 | 4 |
| DONSON-related disorder | 0 | 8 | 0 | 2 | 2 | 0 | 0 | 4 |
| DSPP-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 0 | 4 |
| DSTYK-related disorder | 0 | 10 | 0 | 2 | 2 | 0 | 0 | 4 |
| DYRK1A-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| Dermatitis, atopic, 2, susceptibility to | 0 | 0 | 4 | 2 | 0 | 0 | 0 | 4 |
| Dilated and arrhythmogenic cardiomyopathy | 0 | 3 | 0 | 3 | 0 | 0 | 2 | 4 |
| Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6 | 0 | 6 | 0 | 3 | 0 | 0 | 1 | 4 |
| EEF1A2-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 0 | 4 |
| EIF3F-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| ELOVL4-related disorder | 0 | 1 | 0 | 1 | 3 | 0 | 1 | 4 |
| ELP2-related disorder | 0 | 9 | 0 | 3 | 2 | 0 | 0 | 4 |
| EPB42-related disorder | 0 | 2 | 0 | 0 | 4 | 0 | 0 | 4 |
| ERBB3-related disorder | 0 | 4 | 0 | 4 | 1 | 0 | 0 | 4 |
| ERCC1-related disorder | 0 | 0 | 0 | 3 | 1 | 0 | 1 | 4 |
| ERCC3-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 4 |
| ERCC8-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| EXT1-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 4 |
| Encephalopathy | 0 | 3 | 0 | 3 | 1 | 1 | 1 | 4 |
| F13A1-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| FAM161A-related disorder | 0 | 9 | 0 | 3 | 3 | 0 | 0 | 4 |
| FARSA-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 | 0 | 6 | 0 | 0 | 1 | 1 | 2 | 4 |
| FERMT1-related disorder | 0 | 15 | 0 | 4 | 0 | 0 | 0 | 4 |
| FERMT3-related disorder | 0 | 4 | 0 | 1 | 3 | 0 | 0 | 4 |
| FGA-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 2 | 4 |
| FHOD3-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| FITM2-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| FOLR1-related disorder | 0 | 2 | 0 | 2 | 4 | 0 | 0 | 4 |
| FOXA2-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| FRRS1L-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| FZD5-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| Familial Autism Spectrum Disorder | 0 | 0 | 0 | 0 | 1 | 0 | 3 | 4 |
| G6PC1-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
| GALNS-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 0 | 4 |
| GALNT2-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| GALT-related disorder | 0 | 12 | 0 | 3 | 1 | 1 | 2 | 4 |
| GAN-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 4 |
| GAS2L2-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 4 |
| GATAD2B-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| GCSH-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 4 |
| GEMIN4-related disorder | 0 | 14 | 0 | 3 | 2 | 0 | 0 | 4 |
| GEN1-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 4 |
| GIPC3-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 4 |
| GJB1-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 1 | 4 |
| GLE1-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| GLIS2-related disorder | 0 | 3 | 0 | 1 | 3 | 0 | 0 | 4 |
| GNA11-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| GRID2-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| GRXCR1-related disorder | 0 | 2 | 0 | 4 | 0 | 0 | 0 | 4 |
| GTF2IRD1-related disorder | 0 | 13 | 0 | 4 | 0 | 0 | 0 | 4 |
| GUF1-related disorder | 0 | 13 | 0 | 1 | 3 | 0 | 0 | 4 |
| Global developmental delay; Seizure | 0 | 4 | 0 | 1 | 0 | 0 | 3 | 4 |
| Glutamine synthetase stabilization disorder | 0 | 0 | 0 | 2 | 0 | 0 | 2 | 4 |
| Glutaric acidemia type 2A | 0 | 8 | 0 | 2 | 2 | 0 | 0 | 4 |
| H6PD-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| HBA1-related disorder | 0 | 5 | 0 | 1 | 3 | 0 | 0 | 4 |
| HCCS-related disorder | 0 | 3 | 0 | 4 | 2 | 0 | 0 | 4 |
| HEXA-related disorder | 0 | 9 | 0 | 3 | 1 | 0 | 0 | 4 |
| HGSNAT-related disorder | 0 | 3 | 0 | 1 | 3 | 0 | 1 | 4 |
| HIP1-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| HMBS-related disorder | 0 | 11 | 0 | 4 | 1 | 0 | 0 | 4 |
| HOGA1-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 1 | 4 |
| HOXD13-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 4 |
| HSD3B2-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 0 | 4 |
| HSF4-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 1 | 4 |
| HSPB1-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| Herpes simplex encephalitis, susceptibility to, 4 | 0 | 17 | 0 | 2 | 2 | 0 | 1 | 4 |
| Hirschsprung disease, susceptibility to, 4 | 0 | 11 | 0 | 3 | 1 | 0 | 2 | 4 |
| Hyperphenylalaninemia | 0 | 20 | 0 | 3 | 0 | 0 | 3 | 4 |
| IFITM5-related disorder | 0 | 4 | 0 | 1 | 3 | 0 | 0 | 4 |
| IL12RB2-related disorder | 0 | 21 | 0 | 3 | 1 | 0 | 0 | 4 |
| IL17RC-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| IL2RB-related disorder | 0 | 14 | 0 | 2 | 2 | 0 | 0 | 4 |
| IL6R-related disorder | 0 | 12 | 0 | 3 | 1 | 0 | 0 | 4 |
| IL7R-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| INPPL1-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 0 | 4 |
| INTU-related disorder | 0 | 13 | 0 | 2 | 2 | 0 | 1 | 4 |
| IQCE-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| IRF2BP2-related disorder | 0 | 20 | 0 | 3 | 1 | 0 | 0 | 4 |
| Immunodeficiency 83, susceptibility to viral infections | 0 | 0 | 0 | 1 | 0 | 0 | 3 | 4 |
| Irinotecan response | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 4 |
| JAG2-related disorder | 0 | 18 | 0 | 3 | 1 | 0 | 0 | 4 |
| KANK2-related disorder | 0 | 20 | 0 | 3 | 1 | 0 | 0 | 4 |
| KBTBD13-related disorder | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 4 |
| KCNC1-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| KCND3-related disorder | 0 | 1 | 0 | 1 | 3 | 0 | 0 | 4 |
| KCNE1-related disorder | 0 | 2 | 0 | 1 | 3 | 0 | 0 | 4 |
| KIAA0753-related disorder | 0 | 10 | 0 | 4 | 0 | 0 | 0 | 4 |
| KIF21A-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 1 | 4 |
| KIF22-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| KRT17-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| L2HGDH-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| LAGE3-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 4 |
| LARP7-related disorder | 0 | 3 | 0 | 3 | 1 | 0 | 0 | 4 |
| LEMD3-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| LIG4-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 4 |
| LIMK1-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| LPIN2-related disorder | 0 | 10 | 0 | 3 | 1 | 0 | 0 | 4 |
| LRIT3-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 4 |
| LRP1-related disorder | 0 | 14 | 0 | 4 | 0 | 0 | 0 | 4 |
| Lambdoidal craniosynostosis | 0 | 5 | 0 | 4 | 0 | 0 | 1 | 4 |
| MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | 0 | 0 | 2 | 0 | 0 | 0 | 2 | 4 |
| MAFB-related disorder | 0 | 7 | 0 | 1 | 3 | 0 | 0 | 4 |
| MARS2-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| MARVELD2-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 4 |
| MBD5 associated neurodevelopmental disorder | 0 | 0 | 0 | 2 | 0 | 1 | 3 | 4 |
| MC1R-related disorder | 0 | 0 | 0 | 3 | 2 | 0 | 0 | 4 |
| MCCC1-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 0 | 4 |
| MCCC2-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| MED13-related disorder | 0 | 18 | 0 | 4 | 0 | 0 | 0 | 4 |
| MED23-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| MEF2C-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| MEGF8-related disorder | 0 | 9 | 0 | 1 | 3 | 0 | 0 | 4 |
| MEPHENYTOIN, POOR METABOLISM OF | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 4 |
| MFRP-related disorder | 0 | 2 | 0 | 1 | 3 | 0 | 0 | 4 |
| MIB1-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 2 | 4 |
| MMADHC-related disorder | 0 | 1 | 0 | 1 | 3 | 0 | 0 | 4 |
| MPZ-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| MRPS34-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| MTFMT-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 0 | 4 |
| MTO1-related disorder | 0 | 5 | 0 | 3 | 2 | 0 | 0 | 4 |
| MTPAP-related disorder | 0 | 3 | 0 | 4 | 0 | 0 | 0 | 4 |
| MYCBP2-related disorder | 0 | 12 | 0 | 4 | 0 | 0 | 0 | 4 |
| MYH10-related disorder | 0 | 0 | 0 | 4 | 0 | 0 | 0 | 4 |
| MYO1A-related disorder | 0 | 3 | 0 | 1 | 3 | 0 | 0 | 4 |
| Macular dystrophy with or without extraocular features | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| Mandibulofacial dysostosis with alopecia; Migraine with or without aura, susceptibility to, 1 | 0 | 3 | 0 | 4 | 0 | 0 | 0 | 4 |
| NCAPD2-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| NCKAP1L-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
| NCOR1-related disorder | 0 | 14 | 0 | 3 | 1 | 0 | 0 | 4 |
| NDE1-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| NDUFA9-related disorder | 0 | 3 | 0 | 3 | 1 | 0 | 0 | 4 |
| NDUFS3-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| NEUROD1-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 1 | 4 |
| NFKB1-related disorder | 0 | 16 | 0 | 3 | 1 | 0 | 0 | 4 |
| NHLRC2-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 4 |
| NOS3-related disorder | 0 | 9 | 0 | 4 | 0 | 0 | 0 | 4 |
| NR3C1-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| NRG1-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| NRP2-related disorder | 0 | 18 | 0 | 2 | 2 | 0 | 0 | 4 |
| NSMF-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| NUBPL-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 4 |
| OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | 0 | 0 | 0 | 1 | 0 | 0 | 4 | 4 |
| OTC-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 3 | 4 |
| P3H2-related disorder | 0 | 12 | 0 | 3 | 1 | 0 | 0 | 4 |
| PAFAH1B1-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 1 | 4 |
| PANK2-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| PAX6-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| PCCA-related disorder | 0 | 9 | 0 | 2 | 2 | 0 | 0 | 4 |
| PDE10A-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 0 | 4 |
| PDE1C-related disorder | 0 | 3 | 0 | 4 | 0 | 0 | 0 | 4 |
| PDX1-related disorder | 0 | 10 | 0 | 3 | 1 | 0 | 0 | 4 |
| PET100-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 4 |
| PGM1-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 0 | 4 |
| PHF21A-related disorder | 0 | 10 | 0 | 3 | 1 | 0 | 0 | 4 |
| PHOX2B-related disorder | 0 | 12 | 0 | 1 | 3 | 0 | 0 | 4 |
| PIK3C2A-related disorder | 0 | 17 | 0 | 3 | 1 | 0 | 0 | 4 |
| PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease | 0 | 6 | 0 | 2 | 0 | 0 | 3 | 4 |
| PLA2G6-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| PLOD1-related disorder | 0 | 11 | 0 | 1 | 3 | 0 | 0 | 4 |
| PLOD3-related disorder | 0 | 22 | 0 | 3 | 2 | 0 | 0 | 4 |
| PNKD-related disorder | 0 | 6 | 0 | 4 | 1 | 0 | 0 | 4 |
| PNPLA6-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| POLG2-related disorder | 0 | 6 | 0 | 3 | 2 | 0 | 0 | 4 |
| POLH-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 4 |
| POMT2-related disorder | 0 | 5 | 0 | 0 | 4 | 0 | 0 | 4 |
| POU1F1-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 1 | 4 |
| POU3F4-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 1 | 4 |
| POU4F3-related disorder | 0 | 2 | 0 | 2 | 3 | 0 | 0 | 4 |
| PPA2-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 1 | 4 |
| PPFIA3-related disorder | 0 | 1 | 0 | 2 | 0 | 1 | 3 | 4 |
| PPM1D-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 3 | 4 |
| PRDM13-related disorder | 0 | 6 | 0 | 4 | 0 | 0 | 0 | 4 |
| PRDM5-related disorder | 0 | 11 | 0 | 2 | 2 | 0 | 0 | 4 |
| PREX2-related disorder | 0 | 10 | 0 | 4 | 0 | 0 | 0 | 4 |
| PRF1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 2 | 4 |
| PRICKLE1-related disorder | 0 | 7 | 0 | 1 | 3 | 0 | 0 | 4 |
| PRKCSH-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| PROKR2-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 1 | 4 |
| PRPF3-related disorder | 0 | 3 | 0 | 2 | 3 | 0 | 0 | 4 |
| PRPF6-related disorder | 0 | 11 | 0 | 4 | 0 | 0 | 0 | 4 |
| PSAP-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
| PTH1R-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 1 | 4 |
| Palmoplantar keratodermas | 0 | 4 | 0 | 2 | 0 | 0 | 3 | 4 |
| Pancreatic hypoplasia | 0 | 1 | 0 | 2 | 3 | 0 | 0 | 4 |
| Pheochromocytoma, susceptibility to | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 4 |
| Pneumothorax - familial | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| Pseudoexfoliation glaucoma | 0 | 0 | 0 | 0 | 2 | 0 | 3 | 4 |
| QRICH2-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| RAD51-related disorder | 0 | 7 | 0 | 2 | 3 | 0 | 1 | 4 |
| RAD51B-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| RELA-related disorder | 0 | 9 | 0 | 4 | 0 | 0 | 0 | 4 |
| RFX6-related disorder | 0 | 16 | 0 | 2 | 3 | 0 | 0 | 4 |
| RNF216-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| RPL19-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| RPS6KA3-related disorder | 0 | 12 | 0 | 4 | 0 | 0 | 0 | 4 |
| Rare venous malformation | 0 | 0 | 0 | 4 | 0 | 0 | 1 | 4 |
| Reclassified - variant of unknown significance | 0 | 1 | 0 | 0 | 2 | 0 | 3 | 4 |
| Rhabdomyolysis | 0 | 2 | 0 | 2 | 0 | 0 | 2 | 4 |
| SATB2-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| SDHC-related disorder | 0 | 10 | 0 | 1 | 3 | 0 | 0 | 4 |
| SDHD-related disorder | 0 | 8 | 0 | 2 | 3 | 0 | 0 | 4 |
| SEC24D-related disorder | 0 | 10 | 0 | 4 | 0 | 0 | 0 | 4 |
| SEC63-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| SEMA5A-related disorder | 0 | 7 | 0 | 4 | 0 | 0 | 0 | 4 |
| SHOC2-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 1 | 4 |
| SLC11A2-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| SLC25A1-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 4 |
| SLC25A12-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| SLC25A19-related disorder | 0 | 3 | 0 | 0 | 4 | 0 | 0 | 4 |
| SLC25A38-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| SLC29A3-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| SLC36A2-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| SLC39A13-related disorder | 0 | 4 | 0 | 1 | 3 | 0 | 0 | 4 |
| SLC39A14-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 4 |
| SLC3A1-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| SLC44A4-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| SLC46A1-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| SMAD2-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| SMARCD2-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| SOX3-related disorder | 0 | 5 | 0 | 1 | 3 | 0 | 0 | 4 |
| SPARC-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| SPATA7-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 1 | 4 |
| SPRY4-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 4 |
| SQSTM1-related disorder | 0 | 30 | 0 | 2 | 2 | 0 | 0 | 4 |
| SRPX2-related disorder | 0 | 2 | 0 | 3 | 2 | 0 | 0 | 4 |
| STAG2-related disorder | 0 | 9 | 0 | 4 | 0 | 0 | 0 | 4 |
| STAT1-related disorder | 0 | 12 | 0 | 2 | 2 | 0 | 0 | 4 |
| STK36-related disorder | 0 | 10 | 0 | 3 | 1 | 0 | 0 | 4 |
| SUCLA2-related disorder | 0 | 3 | 0 | 0 | 4 | 0 | 0 | 4 |
| Skin/hair/eye pigmentation 2, red hair/fair skin | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 4 |
| Supraventricular tachycardia | 0 | 2 | 0 | 3 | 2 | 0 | 0 | 4 |
| Syndromic retinitis pigmentosa | 0 | 0 | 1 | 1 | 1 | 0 | 1 | 4 |
| TARDBP-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| TBX18-related disorder | 0 | 4 | 0 | 0 | 4 | 0 | 0 | 4 |
| TBX6-related disorder | 0 | 5 | 0 | 4 | 1 | 0 | 0 | 4 |
| TCN2-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
| TFAP2A-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| TGFB3-related disorder | 0 | 14 | 0 | 1 | 3 | 0 | 0 | 4 |
| TK2-related disorder | 0 | 10 | 0 | 4 | 0 | 0 | 0 | 4 |
| TLR3-related disorder | 0 | 1 | 0 | 4 | 0 | 0 | 0 | 4 |
| TMC1-related disorder | 0 | 9 | 0 | 3 | 1 | 0 | 1 | 4 |
| TNPO3-related disorder | 0 | 2 | 0 | 1 | 4 | 0 | 0 | 4 |
| TOP2A-related disorder | 0 | 3 | 0 | 3 | 1 | 0 | 0 | 4 |
| TRAPPC11-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 4 |
| TRAPPC12-related disorder | 0 | 18 | 0 | 3 | 1 | 0 | 0 | 4 |
| TRPC3-related disorder | 0 | 5 | 0 | 1 | 3 | 0 | 0 | 4 |
| TRPM7-related disorder | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 |
| TRPS1-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| TSEN54-related disorder | 0 | 9 | 0 | 3 | 1 | 0 | 0 | 4 |
| TTC19-related disorder | 0 | 3 | 0 | 1 | 3 | 0 | 0 | 4 |
| TUBA4A-related disorder | 0 | 3 | 0 | 4 | 0 | 0 | 0 | 4 |
| TUBA8-related disorder | 0 | 7 | 0 | 3 | 1 | 0 | 0 | 4 |
| UBE3A-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 4 |
| UROS-related disorder | 0 | 5 | 0 | 4 | 0 | 0 | 0 | 4 |
| VWA2-related disorder | 0 | 9 | 0 | 4 | 0 | 0 | 0 | 4 |
| Variant of unknown significance | 0 | 7 | 0 | 0 | 4 | 0 | 0 | 4 |
| WASHC4-related disorder | 0 | 6 | 0 | 1 | 3 | 0 | 0 | 4 |
| WDFY3-related disorder | 0 | 17 | 0 | 4 | 0 | 0 | 0 | 4 |
| WDR11-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 4 |
| WDR36-related disorder | 0 | 3 | 0 | 4 | 0 | 0 | 0 | 4 |
| WDR37-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 4 |
| WDR73-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 4 |
| WRAP53-related disorder | 0 | 8 | 0 | 3 | 1 | 0 | 0 | 4 |
| XIRP1-related disorder | 0 | 21 | 0 | 4 | 0 | 0 | 0 | 4 |
| ZBTB18-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 1 | 4 |
| ZC4H2-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 1 | 4 |
| ZFHX2-related disorder | 0 | 8 | 0 | 4 | 0 | 0 | 0 | 4 |
| ZIC1-related disorder | 0 | 3 | 0 | 4 | 0 | 0 | 0 | 4 |
| ZMYM2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 1 | 4 |
| ZNF804A-related disorder | 0 | 2 | 0 | 4 | 0 | 0 | 0 | 4 |
| ABHD5-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| ABRAXAS1-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| ACBD5-related disorder | 0 | 7 | 0 | 1 | 2 | 0 | 0 | 3 |
| ACSF3-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 1 | 3 |
| ACTC1-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 2 | 3 |
| ACVR1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| AFG2A-related disorder | 0 | 6 | 0 | 0 | 2 | 0 | 1 | 3 |
| AGTR2-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| AHR-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| AKT1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| ALDH2-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| ALDOA-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| ALOX12B-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 3 |
| AMPD3-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| ANG-related disorder | 0 | 5 | 0 | 1 | 2 | 0 | 0 | 3 |
| AP2M1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| APAF1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| APOL1-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| APTX-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| ARHGEF10-related disorder | 0 | 20 | 0 | 3 | 0 | 0 | 0 | 3 |
| ARHGEF28-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| ARV1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| ASB10-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| ASCC1-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| ASS1-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| ATP11A-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| ATP2B3-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| ATXN1-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| Abnormal corpus callosum morphology | 0 | 0 | 0 | 0 | 2 | 0 | 1 | 3 |
| Abnormal retinal morphology | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| Amyotrophic lateral sclerosis, susceptibility to | 0 | 2 | 0 | 0 | 0 | 0 | 3 | 3 |
| Autistic behavior; Moderate global developmental delay | 0 | 0 | 0 | 3 | 0 | 1 | 1 | 3 |
| Autistic behavior; Severe global developmental delay | 0 | 0 | 0 | 3 | 0 | 1 | 1 | 3 |
| Autosomal dominant CACNA1A-related disorders | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| Autosomal dominant COL2A1-related disorders | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| Autosomal dominant PTPN11-related disorders | 0 | 11 | 0 | 2 | 0 | 0 | 2 | 3 |
| Autosomal recessive ABCA4-related disorders | 0 | 3 | 1 | 2 | 0 | 0 | 1 | 3 |
| Autosomal recessive ANO5-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 3 |
| B4GALNT1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| BFSP1-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| BLOOD GROUP, SID SYSTEM | 0 | 0 | 0 | 0 | 0 | 2 | 1 | 3 |
| BMP4-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 1 | 3 |
| BMP5-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| BMP6-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| BMPR1B-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| BMPR2-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 1 | 3 |
| BRD2-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| BSN-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| BSND-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| BUB1-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| BVES-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| Behavior disorder | 0 | 11 | 0 | 1 | 2 | 0 | 0 | 3 |
| Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| Breast cancer, early-onset | 0 | 3 | 0 | 1 | 1 | 0 | 3 | 3 |
| C1QBP-related disorder | 0 | 9 | 0 | 1 | 2 | 0 | 0 | 3 |
| C1QTNF5-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| C2-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| CACNA2D1-related disorder | 0 | 10 | 0 | 2 | 1 | 0 | 0 | 3 |
| CACNB2-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 3 |
| CBLB-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| CBLIF-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| CCDC8-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| CCDC88A-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| CD151-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| CD19-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| CD46-related disorder | 0 | 15 | 0 | 2 | 2 | 0 | 1 | 3 |
| CD55-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| CDH15-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| CDON-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| CEMIP-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| CEP83-related disorder | 0 | 1 | 0 | 0 | 3 | 0 | 0 | 3 |
| CERKL-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 1 | 3 |
| CFAP300-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| CFP-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| CHCHD10-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| CHD5-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| CHL1-related disorder | 0 | 13 | 0 | 3 | 0 | 0 | 0 | 3 |
| CHMP2B-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 1 | 3 |
| CHRND-related disorder | 0 | 4 | 0 | 0 | 3 | 0 | 0 | 3 |
| CIB2-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 3 |
| CISD2-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 3 |
| CITED2-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| CLDN14-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| CLN6-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 1 | 3 |
| CLTCL1-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| CNTN2-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| CNTN4-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| CNTNAP1-related disorder | 0 | 15 | 0 | 2 | 1 | 0 | 0 | 3 |
| COG4-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| COLQ-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 1 | 3 |
| COQ4-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| COQ7-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 1 | 3 |
| CPA6-related disorder | 0 | 1 | 0 | 0 | 3 | 0 | 0 | 3 |
| CREB3L3-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| CRYGD-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| CSDE1-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| CTBP1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| CTNNA2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| CYC1-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| CYP26C1-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| CYP2R1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| CYP51A1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| Canavan Disease, Familial Form | 0 | 13 | 0 | 2 | 0 | 0 | 1 | 3 |
| Cardiomyopathy, hypertrophic, midventricular, digenic | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Clopidogrel response | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| DAO-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| DARS1-related disorder | 0 | 8 | 0 | 1 | 3 | 0 | 0 | 3 |
| DBH-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| DCLRE1C-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| DCX-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| DDC-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| DDX10-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| DDX59-related disorder | 0 | 8 | 0 | 2 | 1 | 0 | 0 | 3 |
| DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11 | 0 | 3 | 0 | 0 | 3 | 0 | 0 | 3 |
| DHCR24-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| DHPS-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| DLST-related disorder | 0 | 9 | 0 | 1 | 2 | 0 | 0 | 3 |
| DMBT1-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| DNAAF1-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| DNAAF11-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 1 | 3 |
| DNAI1-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 1 | 3 |
| DNAJB13-related disorder | 0 | 5 | 0 | 1 | 2 | 0 | 0 | 3 |
| DNASE1-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 3 |
| DNM1L-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| DOCK2-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| DOLK-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| DPF2-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| DPH1-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| DRC1-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| DRD4-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| DSCAM-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| DSD incomplete virilization | 0 | 1 | 0 | 1 | 1 | 0 | 2 | 3 |
| DTNBP1-related disorder | 0 | 8 | 0 | 2 | 1 | 0 | 0 | 3 |
| DYNC2I2-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| Delayed speech and language development; Abnormality of eye movement; Generalized hypotonia; Abnormal speech pattern; Delayed gross motor development; Hypotonia | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 3 |
| Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus | 0 | 4 | 0 | 0 | 3 | 0 | 0 | 3 |
| Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB | 0 | 16 | 0 | 3 | 0 | 0 | 0 | 3 |
| Dyslexia, susceptibility to, 1; Primary ciliary dyskinesia 25 | 0 | 3 | 0 | 3 | 0 | 0 | 1 | 3 |
| EEF2-related disorder | 0 | 11 | 0 | 3 | 0 | 0 | 0 | 3 |
| EGLN1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| EIF4G1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| ELANE-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| EMD-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| EPAS1-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 3 |
| EPPK1-related disorder | 0 | 10 | 0 | 3 | 0 | 0 | 0 | 3 |
| ESR1-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| ETFB-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| EXO1-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 3 |
| EXOC6B-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| EYA1-related disorder | 0 | 14 | 0 | 1 | 2 | 0 | 0 | 3 |
| EYA4-related disorder | 0 | 7 | 0 | 3 | 2 | 0 | 0 | 3 |
| Early-infantile developmental and epileptic encephalopathy | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| Elevated circulating creatine kinase concentration | 0 | 7 | 0 | 1 | 0 | 1 | 3 | 3 |
| Epilepsy, childhood absence, susceptibility to, 5 | 0 | 1 | 0 | 0 | 1 | 0 | 3 | 3 |
| Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| Epilepsy, childhood absence, susceptibility to, 6 | 0 | 14 | 0 | 2 | 1 | 0 | 0 | 3 |
| Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 | 0 | 2 | 0 | 1 | 0 | 0 | 2 | 3 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 0 | 1 | 0 | 0 | 1 | 0 | 2 | 3 |
| FANCE-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| FANCF-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| FANCG-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 1 | 3 |
| FANCI-related disorder | 0 | 9 | 0 | 0 | 3 | 0 | 0 | 3 |
| FARSB-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| FBLN5-related disorder | 0 | 17 | 0 | 3 | 2 | 0 | 0 | 3 |
| FBXO38-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 3 |
| FCHO1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| FDFT1-related disorder | 0 | 10 | 0 | 2 | 1 | 0 | 0 | 3 |
| FECH-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| FGB-related disorder | 0 | 5 | 0 | 1 | 2 | 0 | 1 | 3 |
| FGF14-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| FGF8-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 3 |
| FGFRL1-related disorder | 0 | 19 | 0 | 2 | 1 | 0 | 0 | 3 |
| FLAD1-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| FLRT1-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| FLVCR1-related disorder | 0 | 8 | 0 | 1 | 2 | 0 | 0 | 3 |
| FMR1-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| FOXL2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| FOXP2-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| FOXRED1-related disorder | 0 | 6 | 0 | 2 | 2 | 0 | 0 | 3 |
| FPR1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| FRMD7-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| FRYL-related developmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| FXYD2-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| Factor V deficiency; Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1 | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| Familial Atypical Hemolytic-Uremic Syndrome | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 3 |
| Familial Otitis Media | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| Focal-onset seizure | 0 | 1 | 0 | 2 | 0 | 1 | 2 | 3 |
| GABRD-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| GABRG2-related disorder | 0 | 11 | 0 | 1 | 1 | 0 | 1 | 3 |
| GALE-related disorder | 0 | 0 | 0 | 1 | 1 | 2 | 0 | 3 |
| GALNT3-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 1 | 3 |
| GATA3-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| GATA6-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| GCH1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| GCM2-related disorder | 0 | 14 | 0 | 3 | 0 | 0 | 0 | 3 |
| GDF1-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 3 |
| GDF6-related disorder | 0 | 3 | 0 | 1 | 3 | 0 | 0 | 3 |
| GFI1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| GFM2-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 3 |
| GJA8-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 3 |
| GJB6-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 3 |
| GJC2-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| GNAT1-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| GNPTAB-Related Disorders | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| GNPTG-related disorder | 0 | 10 | 0 | 1 | 2 | 0 | 0 | 3 |
| GPIHBP1-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| GRHL3-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| GRHPR-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| GRIN1-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 2 | 3 |
| GUCY2C-related disorder | 0 | 13 | 0 | 3 | 0 | 0 | 0 | 3 |
| GYG1-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 1 | 3 |
| GYPC-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Parkinson disease 24, autosomal dominant, susceptibility to | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| Genetic hearing loss | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 3 |
| Global developmental delay; Failure to thrive | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| Glucocorticoid Deficiency | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| H1-4-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| HADH-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| HCN2 related developmental and epileptic encephalopathy | 0 | 2 | 0 | 0 | 0 | 0 | 3 | 3 |
| HELLS-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| HEMOGLOBIN H HYDROPS FETALIS SYNDROME | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| HIBCH-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 | 0 | 0 | 0 | 0 | 1 | 2 | 1 | 3 |
| HLCS-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| HOXA13-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 3 |
| HPGD-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| HTRA1-related disorder | 0 | 6 | 0 | 0 | 3 | 0 | 0 | 3 |
| HYCC1-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| Herpes simplex encephalitis, susceptibility to, 3 | 0 | 13 | 0 | 3 | 1 | 0 | 1 | 3 |
| Heterotaxy | 0 | 3 | 0 | 2 | 0 | 0 | 1 | 3 |
| High myopia | 0 | 9 | 0 | 0 | 2 | 0 | 1 | 3 |
| Hirschsprung disease, susceptibility to, 3 | 0 | 16 | 0 | 3 | 0 | 0 | 2 | 3 |
| Hypogonadotropic hypogonadism 2 with anosmia | 0 | 0 | 2 | 0 | 0 | 0 | 1 | 3 |
| Hypogonadotropic hypogonadism 8 without anosmia | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 3 |
| IDH3A-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| IDH3B-related disorder | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 3 |
| IFT52-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| IGFALS-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| IL10RA-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| IL17RA-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| IL1RAPL1-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| IL23R-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| IL36RN-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 3 |
| IMPDH1-related disorder | 0 | 11 | 0 | 0 | 3 | 0 | 0 | 3 |
| INO80-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| IRS2-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| ITGA2B-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 1 | 3 |
| ITGA8-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| ITGAM-related disorder | 0 | 22 | 0 | 3 | 0 | 0 | 0 | 3 |
| ITGB2-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| ITM2B-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| IVD-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| Immunodeficiency 33 | 0 | 2 | 0 | 1 | 0 | 0 | 2 | 3 |
| Interferon gamma receptor deficiency | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| JAK3-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 1 | 3 |
| JMJD1C-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| JPH3-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| KCNA2-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 3 |
| KCNAB2-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| KDF1-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| KDM2B-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| KIF14-related disorder | 0 | 12 | 0 | 2 | 1 | 0 | 0 | 3 |
| KIFBP-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| KLB-related disorder | 0 | 9 | 0 | 2 | 1 | 0 | 0 | 3 |
| KLF1-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 1 | 3 |
| KLF4-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| KLF7-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 3 |
| KLHL41-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| KLKB1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 3 |
| KLLN-related disorder | 0 | 0 | 0 | 2 | 2 | 0 | 0 | 3 |
| KPTN-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| KRT14-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| KRT6A-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| KRT6B-related disorder | 0 | 12 | 0 | 3 | 0 | 0 | 0 | 3 |
| KRT6C-related disorder | 0 | 11 | 0 | 3 | 0 | 0 | 0 | 3 |
| KRT71-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| KRT83-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| LHFPL5-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| LHX4-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| LIPC-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| LOXL3-related disorder | 0 | 11 | 0 | 1 | 2 | 0 | 0 | 3 |
| LRIG2-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| LRPAP1-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| LSS-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 1 | 3 |
| LTBP3-related disorder | 0 | 11 | 0 | 1 | 2 | 0 | 0 | 3 |
| Langereis blood group | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| Left-right axis malformations | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| Leprosy, susceptibility to, 1 | 0 | 0 | 0 | 0 | 2 | 1 | 0 | 3 |
| Long QT syndrome, drug-associated | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| Lung disease, non-specific | 0 | 1 | 0 | 0 | 3 | 0 | 2 | 3 |
| MAG-related disorder | 0 | 3 | 0 | 3 | 1 | 0 | 0 | 3 |
| MAK-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 1 | 3 |
| MAP3K8-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| MAP4-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| MCM3AP-related disorder | 0 | 20 | 0 | 3 | 0 | 0 | 0 | 3 |
| MCOLN1-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| MCTP2-related disorder | 0 | 18 | 0 | 3 | 0 | 0 | 0 | 3 |
| MEI1-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| MESP1-related disorder | 0 | 17 | 0 | 3 | 0 | 0 | 0 | 3 |
| MFSD8-related disorder | 0 | 0 | 0 | 1 | 3 | 0 | 1 | 3 |
| MGME1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| MICU1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| MIPEP-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| MLYCD-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| MMAB-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 1 | 3 |
| MMP2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| MMP21-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| MN1 C-terminal truncation (MCTT) syndrome | 0 | 0 | 0 | 2 | 0 | 0 | 3 | 3 |
| MN1-related disorder | 0 | 8 | 0 | 2 | 1 | 0 | 0 | 3 |
| MNX1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 3 |
| MOGS-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| MORC2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| MRAS-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| MTMR2-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| MTRR-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| MUSK-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 1 | 3 |
| MVK-related disorder | 0 | 8 | 0 | 2 | 2 | 0 | 0 | 3 |
| MYBPC3-related cardiomyopathies | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| MYO7B-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| MYOF-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| MYOM2-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| MYORG-related disorder | 0 | 11 | 0 | 3 | 0 | 0 | 0 | 3 |
| Macrocephaly | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| Mandibuloacral dysplasia with type A lipodystrophy, atypical | 0 | 1 | 0 | 1 | 0 | 0 | 3 | 3 |
| Mendelian syndromes with cleft lip/palate | 0 | 1 | 0 | 0 | 2 | 0 | 1 | 3 |
| Mild intellectual disability | 0 | 0 | 0 | 1 | 2 | 1 | 2 | 3 |
| Monocarboxylate transporter 1 deficiency, autosomal dominant | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| Monogenic short stature | 0 | 3 | 0 | 1 | 1 | 0 | 1 | 3 |
| Moyamoya angiopathy with developmental delay | 0 | 1 | 0 | 0 | 0 | 0 | 3 | 3 |
| Multiple monogenic benign skin tumours | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 3 |
| NAA15-related disorder | 0 | 13 | 0 | 3 | 0 | 0 | 0 | 3 |
| NANS-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| NAV2-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| NDUFA11-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| NDUFS1-related disorder | 0 | 10 | 0 | 2 | 1 | 0 | 1 | 3 |
| NDUFS8-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| NFASC-related disorder | 0 | 14 | 0 | 2 | 1 | 0 | 0 | 3 |
| NFKB2-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| NGLY1-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| NIPAL4-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| NKX2-1-Related Disorders | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| NLGN3-related disorder | 0 | 4 | 0 | 2 | 2 | 0 | 0 | 3 |
| NOG-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 1 | 3 |
| NONO-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| NPR2-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| NPRL3-related disorder | 0 | 11 | 0 | 3 | 0 | 0 | 0 | 3 |
| NR0B1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| NR0B2-related disorder | 0 | 17 | 0 | 1 | 2 | 0 | 0 | 3 |
| NR5A1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| NSMCE2-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| NTRK3-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| NUP62-related disorder | 0 | 9 | 0 | 2 | 1 | 0 | 0 | 3 |
| NYNRIN-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| NYX-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 1 | 3 |
| Neural tube defects, folate-sensitive, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Non-Syndromic Hereditary Hearing Impairment | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 3 |
| Non-syndromic oligodontia | 0 | 1 | 0 | 0 | 0 | 0 | 3 | 3 |
| Nongoitrous Euthyroid Hyperthyrotropinemia | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| ODAD2-related disorder | 0 | 4 | 0 | 0 | 3 | 0 | 0 | 3 |
| OPN1SW-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| OSMR-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 3 |
| OXCT1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| Obesity, autosomal dominant | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 3 |
| Obesity, severe, and type II diabetes | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Olaparib response | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| PADI3-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 1 | 3 |
| PAK3-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 3 |
| PAX4-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 0 | 3 |
| PAX8-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| PCARE-related disorder | 0 | 16 | 0 | 2 | 3 | 0 | 0 | 3 |
| PCGF2-related disorder | 0 | 10 | 0 | 2 | 1 | 0 | 0 | 3 |
| PCK1-related disorder | 0 | 12 | 0 | 0 | 3 | 0 | 0 | 3 |
| PDHA1-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| PEX11B-related disorder | 0 | 7 | 0 | 0 | 2 | 0 | 1 | 3 |
| PGAM2-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| PHGDH-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| PHKA1-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| PHYH-related disorder | 0 | 9 | 0 | 2 | 2 | 0 | 1 | 3 |
| PIGA-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| PIGN-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 1 | 3 |
| PIGQ-related disorder | 0 | 14 | 0 | 2 | 1 | 0 | 0 | 3 |
| PIK3CD-related disorder | 0 | 13 | 0 | 3 | 0 | 0 | 0 | 3 |
| PIP5K1C-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| PITX2-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| PLAA-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| PLD3-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| PLEKHM2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| PLK4-related disorder | 0 | 10 | 0 | 2 | 0 | 0 | 1 | 3 |
| PNLIP-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| PNPLA1-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 3 |
| POC1A-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| POLE2-related disorder | 0 | 8 | 0 | 1 | 2 | 0 | 0 | 3 |
| POLR1A-related disorder | 0 | 17 | 0 | 2 | 1 | 0 | 0 | 3 |
| POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| POMGNT2-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 3 |
| PPP1CB-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 1 | 3 |
| PPP2R5C-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| PPT1-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| PREPL-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| PRKG1-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 0 | 3 |
| PRUNE1-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| PSEN1-related disorder | 0 | 10 | 0 | 2 | 1 | 0 | 0 | 3 |
| PTPN22-related disorder | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 3 |
| PUM1-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| PXDNL-related disorder | 0 | 18 | 0 | 3 | 0 | 0 | 0 | 3 |
| PYGL-related disorder | 0 | 4 | 0 | 0 | 3 | 0 | 0 | 3 |
| Pancreatitis, chronic, susceptibility to | 0 | 0 | 1 | 0 | 0 | 0 | 2 | 3 |
| Pituitary hormone deficiency | 0 | 4 | 0 | 2 | 0 | 0 | 2 | 3 |
| Poly (ADP-Ribose) polymerase inhibitor response | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| Predisposition to Wilms tumor | 0 | 23 | 0 | 0 | 3 | 0 | 0 | 3 |
| Premature ventricular contraction | 0 | 3 | 0 | 2 | 2 | 0 | 0 | 3 |
| Profound intellectual disability | 0 | 1 | 0 | 1 | 0 | 0 | 2 | 3 |
| Prostate cancer, somatic | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Psoriasis 15, pustular, susceptibility to | 0 | 1 | 0 | 3 | 0 | 0 | 2 | 3 |
| QRSL1-related disorder | 0 | 10 | 0 | 3 | 0 | 0 | 0 | 3 |
| RAB11A-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| RAD54L-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| RAG1-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| RASA2-related disorder | 0 | 18 | 0 | 3 | 0 | 0 | 0 | 3 |
| RASGRP1-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| RASGRP2-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| RBM20-related disorder | 0 | 16 | 0 | 2 | 1 | 0 | 0 | 3 |
| RBM8A-related disorder | 0 | 0 | 0 | 3 | 0 | 1 | 2 | 3 |
| REN-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| RFX3-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| RIT1-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 0 | 3 |
| RMND1-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 3 |
| RNASEH2A-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| RNASET2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| RNF135-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| RNF168-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| ROGDI-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 3 |
| RORB-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| RPGRIP1-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 3 |
| RPL35-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| RPSA-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| RRAS-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| RRAS2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 2 | 3 |
| RSPH4A-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| RUNX1T1-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| RUNX2-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 1 | 3 |
| Rare combined vascular malformation | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| S1PR2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| SALL2-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| SAR1B-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| SARS2-related disorder | 0 | 5 | 0 | 3 | 1 | 0 | 0 | 3 |
| SCO1-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| SDHAF2-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| SEC61A1-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| SEPSECS-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| SERPINA6-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 2 | 3 |
| SERPINB6-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| SERPIND1-related disorder | 0 | 3 | 0 | 3 | 1 | 0 | 0 | 3 |
| SERPINH1-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 3 |
| SFTPB-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| SH2B3-related disorder | 0 | 7 | 0 | 2 | 2 | 0 | 0 | 3 |
| SH3KBP1-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| SHANK1-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| SHANK2-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| SHROOM3-related disorder | 0 | 22 | 0 | 3 | 0 | 0 | 0 | 3 |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 0 | 2 | 0 | 0 | 1 | 2 | 1 | 3 |
| SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 | 0 | 0 | 0 | 0 | 1 | 0 | 2 | 3 |
| SLC18A3-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| SLC1A3-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| SLC25A46-related disorder | 0 | 5 | 0 | 0 | 3 | 0 | 0 | 3 |
| SLC26A2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 1 | 3 |
| SLC26A5-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| SLC27A4-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| SLC2A2-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| SLC34A2-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| SLC35C1-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 1 | 3 |
| SLC52A3-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 2 | 3 |
| SLC5A2-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 1 | 3 |
| SLC5A7-related disorder | 0 | 5 | 0 | 1 | 2 | 0 | 0 | 3 |
| SLC6A20-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| SLC6A3-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 3 |
| SLC7A14-related disorder | 0 | 6 | 0 | 3 | 1 | 0 | 0 | 3 |
| SLC9A3-related disorder | 0 | 20 | 0 | 3 | 0 | 0 | 0 | 3 |
| SLC9A6-related disorder | 0 | 1 | 0 | 3 | 1 | 0 | 0 | 3 |
| SLCO1B3-related disorder | 0 | 9 | 0 | 2 | 1 | 0 | 0 | 3 |
| SMO-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| SNAP29-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| SNX10-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| SOX5-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| SOX9-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| SPART-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE | 0 | 0 | 0 | 1 | 2 | 0 | 1 | 3 |
| SPRED1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| SRA1-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| SRD5A2-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| ST3GAL3-related disorder | 0 | 2 | 0 | 0 | 3 | 0 | 0 | 3 |
| STAT4-related disorder | 0 | 8 | 0 | 2 | 2 | 0 | 0 | 3 |
| STRA6-related disorder | 0 | 6 | 0 | 0 | 3 | 0 | 0 | 3 |
| SUCLG2-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| SUCO-related disorder | 0 | 8 | 0 | 2 | 1 | 0 | 0 | 3 |
| SUGCT-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| SUN1-related disorder | 0 | 15 | 0 | 3 | 0 | 0 | 0 | 3 |
| SYN1-related disorder | 0 | 5 | 0 | 1 | 2 | 0 | 0 | 3 |
| SYNJ1-related disorder | 0 | 15 | 0 | 2 | 1 | 0 | 0 | 3 |
| SYT1-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| Severe intellectual deficiency | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| Smith-Magenis Syndrome-like | 0 | 3 | 0 | 0 | 0 | 0 | 3 | 3 |
| Spectraplakinopathy type I | 0 | 1 | 0 | 0 | 3 | 0 | 0 | 3 |
| Structural eye disease | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| TAB2-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| TAF6-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| TAFAZZIN-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| TAOK2-related disorder | 0 | 18 | 0 | 3 | 0 | 0 | 0 | 3 |
| TBC1D1-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| TBX19-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| TBX4-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| TBXA2R-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| TCTN1-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| TCTN3-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 1 | 3 |
| TECPR2-related disorder | 0 | 10 | 0 | 2 | 2 | 0 | 0 | 3 |
| TENM1-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| TENT5A-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| TERC-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 3 |
| TEX11-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| TF-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| TFG-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| TGFBR3-related disorder | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 |
| THOC2-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| THOC6-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| THPO-related disorder | 0 | 5 | 0 | 2 | 2 | 0 | 0 | 3 |
| TLR7-related disorder | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| TMEM126A-related disorder | 0 | 2 | 0 | 3 | 1 | 0 | 0 | 3 |
| TMEM132E-related disorder | 0 | 12 | 0 | 3 | 0 | 0 | 0 | 3 |
| TMEM240-related disorder | 0 | 6 | 0 | 3 | 0 | 0 | 0 | 3 |
| TMEM38B-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
| TMEM63A-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| TMIE-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 1 | 3 |
| TMPRSS15-related disorder | 0 | 10 | 0 | 2 | 1 | 0 | 0 | 3 |
| TNFRSF9-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 3 |
| TNFSF11-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| TNNC1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| TNNT3-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| TNRC6B-related disorder | 0 | 11 | 0 | 3 | 0 | 0 | 0 | 3 |
| TRAF7-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| TRIM63-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 3 |
| TRIP13-related disorder | 0 | 16 | 0 | 1 | 2 | 0 | 0 | 3 |
| TRIT1 Deficiency | 0 | 1 | 0 | 1 | 0 | 0 | 2 | 3 |
| TRNT1-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 1 | 3 |
| TRPA1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| TSHZ3-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| TSR2-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 3 |
| TTC28-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| TUBB4A-related disorder | 0 | 7 | 0 | 3 | 0 | 0 | 0 | 3 |
| TUBB4B-related disorder | 0 | 11 | 0 | 3 | 0 | 0 | 0 | 3 |
| TUBGCP4-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| TUFM-related disorder | 0 | 6 | 0 | 2 | 1 | 0 | 0 | 3 |
| TUSC3-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| TWNK-related disorder | 0 | 22 | 0 | 1 | 2 | 0 | 0 | 3 |
| TYROBP-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 3 |
| Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency syndrome | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| Transient Neonatal Diabetes, Dominant/Recessive | 0 | 0 | 0 | 2 | 2 | 0 | 0 | 3 |
| Triple-Negative Breast Cancer Finding | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 3 |
| UBQLN2-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 3 |
| UNC45B-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 0 | 3 |
| UROD-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| USP7-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 3 |
| VAPB-related disorder | 0 | 4 | 0 | 3 | 1 | 0 | 0 | 3 |
| VAV1-related disorder | 0 | 11 | 0 | 2 | 1 | 0 | 0 | 3 |
| VPS33A-related disorder | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| VPS53-related disorder | 0 | 8 | 0 | 3 | 0 | 0 | 0 | 3 |
| VSX2-related disorder | 0 | 2 | 0 | 3 | 0 | 0 | 0 | 3 |
| VWA3B-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda | 0 | 3 | 0 | 1 | 1 | 1 | 0 | 3 |
| WAC-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| WASHC5-related disorder | 0 | 9 | 0 | 3 | 0 | 0 | 0 | 3 |
| WDPCP-related disorder | 0 | 17 | 0 | 1 | 2 | 0 | 0 | 3 |
| WDR4-related disorder | 0 | 19 | 0 | 2 | 1 | 0 | 0 | 3 |
| WNT7A-related disorder | 0 | 4 | 0 | 3 | 2 | 0 | 0 | 3 |
| WNT9B-related disorder | 0 | 5 | 0 | 3 | 0 | 0 | 0 | 3 |
| XPO5-related disorder | 0 | 22 | 0 | 0 | 3 | 0 | 0 | 3 |
| XPR1-related disorder | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| YARS1-related disorder | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 3 |
| ZNF687-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 3 |
| acenocoumarol response - Dosage | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| bilateral breast cancer | 0 | 4 | 0 | 0 | 3 | 0 | 0 | 3 |
| developmental delay with seizures | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 3 |
| intellectual deficiency | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 3 |
| tegafur response - Toxicity | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| AAAS-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| ABAT-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| ABCD4-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| ACTA1-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| ACTA1-related myopathies | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| ADA2-related disorder | 0 | 8 | 0 | 1 | 1 | 0 | 0 | 2 |
| ADAM9-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| ADAMTSL2-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 2 |
| ADAR-related disorder | 0 | 11 | 0 | 1 | 1 | 0 | 0 | 2 |
| ADSS1-related disorder | 0 | 14 | 0 | 2 | 0 | 0 | 0 | 2 |
| AFF3-related disorder | 0 | 11 | 0 | 1 | 1 | 0 | 0 | 2 |
| AFG2B-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| AGO3-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| AGPS-related disorder | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| AIMP1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| AK7-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 2 |
| ALDH1A2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| ALDH1A3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| ALG14-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| ALG3-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| ALPI-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| ALX4-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| AMBN-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| AMELX-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| AMHR2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| AMN-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| ANKK1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| ANO10-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ANTXR1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| ANTXR2-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| AP1S3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| AP4B1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| APC associated polyposis | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| APCDD1-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| APOA1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 1 | 2 |
| APOA2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| APOA4-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| APOA5-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 1 | 2 |
| APOC2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| APOL1-associated kidney disease | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| AQP1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| AQP2-related nephrogenic diabetes insipidus | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARCN1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARHGAP29-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARHGAP32-related disorder | 0 | 13 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARHGDIA-related disorder | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 2 |
| ARHGEF15-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARHGEF6-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARL6-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| ARMC2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| ARMC9-related Joubert syndrome | 0 | 3 | 0 | 2 | 0 | 0 | 1 | 2 |
| ARMS2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| ARNT2-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| ARSB-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| ARYLSULFATASE A PSEUDODEFICIENCY | 0 | 0 | 0 | 0 | 0 | 1 | 2 | 2 |
| ASCL1-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| ASL-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| ASPH-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| ASRGL1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| ATF6-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| ATIC-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ATL1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| ATL3-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| ATN1-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| ATP13A4-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| ATP1A2-related disorder | 0 | 18 | 0 | 1 | 1 | 0 | 0 | 2 |
| ATP2C2-related disorder | 0 | 13 | 0 | 2 | 0 | 0 | 0 | 2 |
| ATPAF2-related disorder | 0 | 2 | 0 | 2 | 1 | 0 | 0 | 2 |
| ATXN2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| ATXN3-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| ATXN7-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 2 |
| AURKC-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| AXIN1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| Abnormal facial shape | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Abnormality of prenatal development or birth | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| Accelerated tumor formation, susceptibility to | 0 | 5 | 0 | 1 | 0 | 0 | 1 | 2 |
| Adult onset neurodegenerative disorder | 0 | 6 | 0 | 2 | 0 | 0 | 1 | 2 |
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| Alpha-thalassemia, Dutch type | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| Alpha-thalassemia/intellectual disability syndrome | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Alzheimer disease; Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
| Amyotrophic lateral sclerosis 1, autosomal recessive | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 2 |
| Aspergillosis, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Asymmetric septal hypertrophy | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Ataxia | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Atrioventricular septal defect and common atrioventricular junction | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Autistic behavior | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| Autosomal dominant COL4A1-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| Autosomal dominant CREBBP-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal dominant DNMT3A-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal dominant PTEN-related disorders | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| Autosomal dominant TRIO-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal dominant and autosomal recessive FLG-related disorders | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal dominant and autosomal recessive MFN2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 2 |
| Autosomal dominant and autosomal recessive WFS1-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive ABCC6-related disorders | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive CUBN-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive DYSF-related disorders | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive ERCC2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Autosomal recessive KIAA0753-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive PDZD7-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive PHGDH-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Autosomal recessive POLR3A-related disorders | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| Autosomal recessive TYR-related disorders | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| B3GALT6-related disorder | 0 | 7 | 0 | 0 | 2 | 0 | 0 | 2 |
| B4GALT7-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| BAZ2B-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| BCAM-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| BCHE-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| BCKDK-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| BCL11A-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| BCORL1-related disorder | 0 | 12 | 0 | 1 | 1 | 0 | 0 | 2 |
| BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| BMP15-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| BMP2-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 0 | 2 |
| BOLA3-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| BRIP1-associated familial cancer predisposition | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| BUB1B-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| Beta zero thalassemia | 0 | 42 | 0 | 2 | 0 | 0 | 0 | 2 |
| Bilateral tonic-clonic seizure | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Bone marrow hypocellularity | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| Bone mineral density quantitative trait locus 1 | 0 | 1 | 0 | 1 | 0 | 1 | 0 | 2 |
| Brachydactyly, type B1Robinow syndrome, autosomal recessive | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| Breast cancer, susceptibility to; Prostate cancer susceptibility | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Brugada syndrome, lidocaine-induced | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| C12orf57-related disorder | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| CA5A-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 0 | 2 |
| CABP4-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| CAMSAP1-related neuronal migration disorder | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| CAPN10-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| CARD9-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| CAST-related disorder | 0 | 10 | 0 | 1 | 1 | 0 | 0 | 2 |
| CAT-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| CBX2-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| CCDC115-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| CCDC39-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 0 | 2 |
| CCM2-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| CD2AP-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| CD33-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| CD3G-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| CD8A-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| CD96-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| CDC42-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 2 |
| CDC42BPB-related neurodevelopmental syndrome | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| CDC73-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| CDCA7-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| CDH13-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| CDK8-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| CELF4-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| CFAP298-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| CFAP69-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| CHAMP1-related syndrome | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| CHCHD2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| CHD1-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| CIITA-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| CIZ1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| CLASP2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| CLCN5-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| CLDN1-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 2 |
| CLDN16-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| CLN5-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| CLPP-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| CLPX-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| CLRN1-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 1 | 2 |
| CMIP-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| CNKSR2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| CNTN3-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| CNTN6-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| CNTNAP5-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 0 | 2 |
| COG1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| COG2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| COG6-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| COG7-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| COL4A1 or COL4A2-related cerebral small vessel disease | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| COL6A5-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| COL8A2-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| CORO1A-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| COX10-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| CPT1C-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| CRADD-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| CRAT-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| CRB1-related maculopathy | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 2 |
| CRIM1-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| CRX-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| CRYAB-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| CRYBA1-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| CRYBA4-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| CSF2RA-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| CSNK2A1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| CUL4B-related disorder | 0 | 12 | 0 | 1 | 0 | 0 | 1 | 2 |
| CUX1-related disorder | 0 | 10 | 0 | 2 | 0 | 0 | 0 | 2 |
| CXCR2-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| CYBA-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| CYLD-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| CYP2C19: normal function | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| CYP4V2-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 2 |
| Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 0 | 2 | 0 | 0 | 0 | 0 | 2 | 2 |
| Central core disease, autosomal recessive | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Central core myopathy; Malignant hyperthermia, susceptibility to, 1 | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 2 |
| Cerebral visual impairment and intellectual disability | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Coffin Siris/Intellectual Disability | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| Colorectal / endometrial cancer | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 0 | 7 | 0 | 1 | 0 | 0 | 1 | 2 |
| Congenital disorders of glycosylation type II | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| Craniosynostosis, nonspecific | 0 | 1 | 0 | 0 | 1 | 0 | 1 | 2 |
| DBT-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| DCHS2-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| DDB2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| DDOST-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| DDX53-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| DEGS1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| DGKE-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| DHODH-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 2 |
| DHX34-related disorder | 0 | 14 | 0 | 2 | 0 | 0 | 0 | 2 |
| DLG3-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| DLX3-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| DMP1-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 2 |
| DNAAF3-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| DNAAF6-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| DNAH14-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| DNAI2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| DNMT3B-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| DOCK3-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| DONSON-related Meier-Gorlin syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| DPAGT1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| DPP6-related disorder | 0 | 7 | 0 | 2 | 1 | 0 | 0 | 2 |
| DPYSL5-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| DRD3-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| DTHD1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| DUSP6-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| DYNC2I1-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| DYNC2LI1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| Death in early adulthood | 0 | 1 | 0 | 0 | 0 | 0 | 2 | 2 |
| Dementia, Lewy body, susceptibility to | 0 | 0 | 2 | 1 | 0 | 0 | 0 | 2 |
| Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14 | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| Developmental delay | 0 | 5 | 0 | 0 | 1 | 0 | 1 | 2 |
| Disproportionate tall stature | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| Dominant hypophosphatemia with nephrolithiasis or osteoporosis | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| EBF3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| ECM1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| EDNRB-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| EFEMP2-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| EIF2B2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| EIF2B4-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| EIF2B5-related disorder | 0 | 8 | 0 | 1 | 1 | 0 | 0 | 2 |
| ELMOD3-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| EMC1-related disorder | 0 | 13 | 0 | 2 | 0 | 0 | 0 | 2 |
| EPB41L1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| EPHA4-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| EPHB2-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| EPO-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| ER BLOOD GROUP SYSTEM, ER(a-b-) | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| ESR2-related disorder | 0 | 14 | 0 | 2 | 0 | 0 | 0 | 2 |
| ETHE1-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| EXTL3-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| Early-onset coronary artery disease | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| Early-onset dementia of unclear type | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Eculizumab, poor response to | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Eczematoid dermatitis | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Encephalomyopathy with respiratory failure and lactic acidosis | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 0 | 0 | 0 | 1 | 1 | 0 | 1 | 2 |
| Epidermolysis bullosa, pretibial, autosomal recessive | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 2 |
| Epilepsy, idiopathic generalized, susceptibility to, 9; Episodic ataxia type 5 | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| Epileptic spasm | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| F10-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 1 | 2 |
| F13B-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| F9-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 1 | 2 |
| FAS-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| FBXW4-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| FEZF1-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| FGF12-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| FHL1-related disorder | 0 | 8 | 0 | 1 | 1 | 0 | 0 | 2 |
| FKBP14-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| FLVCR2-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| FMO3-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| FOXC2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| FOXE3-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| FPGT-TNNI3K-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| FTCD-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 1 | 2 |
| FUT8-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| Fabry disease, cardiac variant | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Familial dilated cardiomyopathy and peripheral neuropathy | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Familial intrahepatic cholestasis type 2 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Febrile seizure (within the age range of 3 months to 6 years) | 0 | 1 | 0 | 0 | 1 | 0 | 1 | 2 |
| Flexion contracture | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| Fluorouracil response | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 2 |
| GABRA3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| GABRB1-related disorder | 0 | 9 | 0 | 1 | 1 | 0 | 0 | 2 |
| GABRB2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| GABRB3-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| GAMT-related disorder | 0 | 9 | 0 | 2 | 1 | 0 | 0 | 2 |
| GAS8-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| GATAD1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| GBA2-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| GCKR-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| GCNT2-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| GDF2-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| GDNF-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| GFER-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 2 |
| GFRA1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| GHSR-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 2 |
| GIGYF2-related disorder | 0 | 7 | 0 | 1 | 1 | 0 | 0 | 2 |
| GJB4-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| GLDN-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| GLRA1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| GLS-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| GMPPA-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| GNAI3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| GNRHR-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| GNS-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| GOSR2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 2 |
| GOT2-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| GP1BA-related disorder | 0 | 13 | 0 | 0 | 1 | 0 | 1 | 2 |
| GP1BB-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| GPC6-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| GPD1L-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| GPHN-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| GPI-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| GPR101-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| GPR143-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| GPR45-related condition | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| GRIA3-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| GRM7-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| GRXCR2-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| GSS-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| GTF2E2-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 2 |
| GUCA1A-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| GYS2-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Gastrointestinal polyposis | 0 | 0 | 0 | 2 | 2 | 0 | 0 | 2 |
| Global developmental delay; Cerebellar atrophy | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 2 |
| Glutaric acidaemia I newborn screening follow up | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Glycogen storage disease IIIb | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| Growth failure in early childhood | 0 | 5 | 0 | 0 | 1 | 0 | 1 | 2 |
| HACE1-related disorder | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| HARS2-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| HAVCR2-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 2 |
| HBA2-related disorder | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| HBD-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| HEMOGLOBIN I | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| HEMOGLOBIN I (BURLINGTON) | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| HEMOGLOBIN I (PHILADELPHIA) | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| HEMOGLOBIN I (SKAMANIA) | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| HEMOGLOBIN I (TEXAS) | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| HES7-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 2 |
| HESX1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 1 | 2 |
| HEXB-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| HGF-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 2 |
| HIRA-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| HPSE2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| HR-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| HRG-related disorder | 0 | 4 | 0 | 1 | 2 | 0 | 0 | 2 |
| HSD17B3-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 1 | 2 |
| HSPA9-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 1 | 2 |
| HTRA2-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| HYAL1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| HYDIN-related disorder | 0 | 0 | 0 | 1 | 2 | 0 | 0 | 2 |
| HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Hemoglobin H disease, nondeletional | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| Hereditary nonpolyposis colorectal carcinoma | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| Hypertension, essential, susceptibility to | 0 | 2 | 0 | 0 | 0 | 0 | 2 | 2 |
| Hypoaldosteronism, congenital | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Hypocholesterolemia | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Hypogonadotropic hypogonadism 15 with anosmia | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Hypoinsulinemia | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
| ICAM1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| ICOS-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| IFIH1-related immunodeficiency | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| IFNAR1-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| IFT57-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| IFT80-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| IFT88-related disorder | 0 | 15 | 0 | 2 | 0 | 0 | 0 | 2 |
| IGBP1-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| IGSF1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| IKZF1-related disorder | 0 | 14 | 0 | 0 | 2 | 0 | 0 | 2 |
| IL10RB-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| INPP5K-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| INTS8-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| IRAK1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| IRF4-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| IRF7-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| IRF8-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| IRF9-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| IRS1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| ITGA6-related disorder | 0 | 10 | 0 | 1 | 1 | 0 | 0 | 2 |
| ITGB6-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ITK-related disorder | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 2 |
| ITPA-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| ITPR2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| ITSN1-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| Immunodeficiency 104; Hepatitis C virus, susceptibility to | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Increased left ventricular wall thickness | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 2 |
| Inflammatory bowel disease 17; Psoriasis 7, susceptibility to | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Inherited renal cancer | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| Insulin resistance | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Insulin resistance, susceptibility to | 0 | 1 | 0 | 0 | 0 | 0 | 2 | 2 |
| Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1; Congenital factor V deficiency | 0 | 5 | 0 | 0 | 1 | 0 | 1 | 2 |
| JAM3-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| JUP-related disorder | 0 | 17 | 0 | 1 | 2 | 0 | 0 | 2 |
| Jaundice; Erythema | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Joubert syndrome 9/15, digenic | 0 | 1 | 0 | 1 | 0 | 0 | 2 | 2 |
| KCNA1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| KCNE5-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| KCNH5-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| KCNJ1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| KCNK18-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| KCNK9-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| KCNT2-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| KCTD7-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| KDM5B-related disorder | 0 | 11 | 0 | 1 | 1 | 0 | 0 | 2 |
| KIF2A-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| KIF4B-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| KIF5C-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| KLF10-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| KLF11-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| KLHL3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| KLHL40-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| KPNA7-related disorder | 0 | 14 | 0 | 1 | 1 | 0 | 0 | 2 |
| KRT25-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| KRT3-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| KRT9-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| KY-related disorder | 0 | 6 | 0 | 1 | 2 | 0 | 0 | 2 |
| LCA5-related disorder | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| LCAT-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| LDHA-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| LDLRAP1-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| LEMD2-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 2 |
| LETM1-associated clinical spectrum with predominant nervous system involvement | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| LFNG-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| LHB-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| LHX3-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| LHX8-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| LIAS-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| LIPH-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| LIPT1-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| LPP-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| LRRC8A-related disorder | 0 | 20 | 0 | 2 | 0 | 0 | 0 | 2 |
| LRSAM1-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 1 | 2 |
| Leprosy, susceptibility to, 3; Mycobacterium tuberculosis, susceptibility to; Colorectal cancer | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| Leukodystrophy, Adult-Onset | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Likely inborn error of metabolism | 0 | 6 | 0 | 1 | 0 | 0 | 1 | 2 |
| Long QT syndrome 3, acquired, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| MAD2L2-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| MAF-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| MAGED2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| MAP3K20-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 2 |
| MASP2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| MATN4-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| MAX-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 1 | 2 |
| MCM5-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| MCM9-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| MDH2-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| MED25-related disorder | 0 | 3 | 0 | 1 | 2 | 0 | 0 | 2 |
| MEIS2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| MFAP5-related disorder | 0 | 10 | 0 | 1 | 1 | 0 | 0 | 2 |
| MGLL-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| MGP-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| MID2-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| MMP20-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| MOCS2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 2 |
| MPIG6B-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| MRAP2-related disorder | 0 | 13 | 0 | 1 | 1 | 0 | 0 | 2 |
| MRPS7-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| MSN-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| MSX1-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| MT-ATP6-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| MTHFD1-related disorder | 0 | 13 | 0 | 1 | 0 | 0 | 1 | 2 |
| MTHFS-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| MTMR14-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| MVD-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| MYOD1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Mild to moderate NDD | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Mitochondrial DNA maintenance disorder | 0 | 3 | 0 | 2 | 0 | 0 | 1 | 2 |
| Monochromacy | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Mortality risk in patients with severe coronavirus disease (COVID-19) | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
| Moyamoya angiopathy | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Multiple myeloma, resistance to | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| NAF1-related disorder | 0 | 9 | 0 | 1 | 1 | 0 | 0 | 2 |
| NAGA-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| NAXE-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| NCF4-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| NDUFA10-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| NDUFA2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| NDUFA6-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| NDUFAF1-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| NDUFAF6-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| NDUFS4-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| NDUFV2-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| NECAP1-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| NECTIN1-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| NECTIN4-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| NEFL-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| NEK2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| NEMF-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| NEPRO-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| NEU1-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| NFS1-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| NGF-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| NHP2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| NICE approved PARP inhibitor treatment | 0 | 6 | 0 | 2 | 0 | 0 | 1 | 2 |
| NICOTINE ADDICTION, PROTECTION AGAINST | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| NIPA1-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| NKX2-5-related disorder | 0 | 6 | 0 | 0 | 2 | 0 | 0 | 2 |
| NLRC4-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| NMNAT1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| NR2F1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| NRL-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 2 |
| NRP1-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| NSUN2-related disorder | 0 | 9 | 0 | 1 | 1 | 0 | 0 | 2 |
| NT5E-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| NUP107-related disorder | 0 | 10 | 0 | 1 | 1 | 0 | 0 | 2 |
| NUP214-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| NUP85-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| NUS1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| NXF5-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 0 | 2 |
| NXN-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| Neonatal hypotonia | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Neonatal seizure | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Neoplasm of the liver | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| Neurodevelopmental disorder with epilepsy | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Neurodevelopmental disorders | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| Nonsyndromic otitis media | 0 | 2 | 0 | 0 | 1 | 0 | 1 | 2 |
| Noonan Syndrome-like developmental disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| OAT-related disorder | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 2 |
| OCLN-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| OGDH-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| OGT-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| OPA3-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 1 | 2 |
| OPLAH-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 0 | 2 |
| ORAI1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 1 | 2 |
| OSBPL2-related disorder | 0 | 10 | 0 | 2 | 0 | 0 | 0 | 2 |
| OTUD6B-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| OVARIAN CANCER, EPITHELIAL, SOMATIC | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| Other rare neuromuscular disorders | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| P4HA2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| PAPSS2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| PARN-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 1 | 2 |
| PARP1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| PAX2-Related Disorder | 0 | 8 | 0 | 1 | 2 | 0 | 0 | 2 |
| PAX5-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| PBX1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| PCSK5-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| PDE8B-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| PDGFB-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| PDSS2-related disorder | 0 | 9 | 0 | 0 | 2 | 0 | 0 | 2 |
| PDYN-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| PDZD2-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| PER3-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| PFN1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| PGM3-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| PHF2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| PHKG2-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| PIGP-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| PIGS-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| PIGT-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| PIK3C2B-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| PIK3CA constitutional syndrome | 0 | 4 | 0 | 0 | 0 | 0 | 2 | 2 |
| PIK3R1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| PJVK-related disorder | 0 | 3 | 0 | 2 | 1 | 0 | 0 | 2 |
| PKDCC-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| PLCB4-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| PLEKHA7-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| PLIN1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| PLS1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| PLXNA4-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 0 | 2 |
| PMPCA-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 0 | 2 |
| PMPCB-related disorder | 0 | 12 | 0 | 2 | 0 | 0 | 0 | 2 |
| PMS1-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| PNPLA2-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 1 | 2 |
| PNPLA8-related disorder | 0 | 4 | 0 | 0 | 2 | 0 | 0 | 2 |
| POC1B-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| POFUT1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| POGLUT1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 1 | 2 |
| POLR3A-related neurological disorders | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| POMT1-related congenital myopathy | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| POP1-related disorder | 0 | 8 | 0 | 1 | 1 | 0 | 0 | 2 |
| PPP1R12A-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| PPP1R9A-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| PPP2R1A-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 0 | 2 |
| PPP3CA-related disorder | 0 | 8 | 0 | 1 | 1 | 0 | 0 | 2 |
| PRICKLE2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| PRKAR1A-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 1 | 2 |
| PRKCD-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| PROGUANIL, POOR METABOLISM OF | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| PRSS1-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| PSAT1-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 1 | 2 |
| PSMG2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| PSPH-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| PTBP1-related neurodevelopmental disorder with skeletal dysplasia | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| PTCHD1-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| PTDSS1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| PTPN13-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| PTPN14-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| PTPRF-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| PTPRS-related disorder | 0 | 20 | 0 | 2 | 0 | 0 | 0 | 2 |
| PYROXD1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| Palmoplantar blistering; Skin fragility with non-scarring blistering | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| Parkinson Disease, Dominant/Recessive | 0 | 14 | 0 | 2 | 0 | 0 | 0 | 2 |
| Parkinson disease 5, autosomal dominant, susceptibility to; Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Phenytoin response | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; Amyotrophic lateral sclerosis type 12 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| Pulmonary fibrosis, idiopathic, susceptibility to | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| RAB11FIP5-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| RAB18-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| RAB23-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| RAB39B-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| RAB7A-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| RABL3-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| RAD21-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| RAG2-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 2 |
| RBPJ-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| REEP1-related disorder | 0 | 7 | 0 | 0 | 2 | 0 | 0 | 2 |
| REEP6-related disorder | 0 | 7 | 0 | 1 | 1 | 0 | 0 | 2 |
| RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| RETREG1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| RFT1-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| RGS9BP-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| RHAG-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| RHO-related disorder | 0 | 12 | 0 | 1 | 1 | 0 | 0 | 2 |
| RIGI-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| RINT1-related disorder | 0 | 14 | 0 | 2 | 0 | 0 | 0 | 2 |
| RIPPLY2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| RNASEH2B-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| RNASEL-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| RNU4ATAC-related spliceosomopathies | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| ROBO4-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 0 | 2 |
| ROM1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| RPL18-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| RPS24-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| RUSC2-related disorder | 0 | 10 | 0 | 1 | 1 | 0 | 0 | 2 |
| Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| SATB1-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| SCARF2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| SCN4A-related non-dystrophic myotonia | 0 | 6 | 0 | 0 | 0 | 0 | 2 | 2 |
| SCN4B-related disorder | 0 | 0 | 0 | 1 | 2 | 0 | 0 | 2 |
| SCNN1G-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| SCRIB-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| SEMA3F-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| SEPHS1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| SERAC1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| SERPINC1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| SERPINF2-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| SERPINI1-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| SF3B1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| SFTPA1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| SFTPA2-related disorder | 0 | 7 | 0 | 2 | 0 | 0 | 0 | 2 |
| SFTPC-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| SGCE-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| SGCG-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 2 |
| SHOX-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 2 |
| SHROOM4-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| SIAE-related disorder | 0 | 10 | 0 | 2 | 0 | 0 | 0 | 2 |
| SIK3-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| SIN3B-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| SIX1-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| SIX3-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC10A7-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC13A3-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC16A12-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC16A2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC17A5-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC17A8-related disorder | 0 | 9 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC17A9-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC19A1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC19A2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC1A4-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC22A4-related disorder | 0 | 9 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC24A4-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC24A5-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 1 | 2 |
| SLC25A15-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| SLC25A24-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC25A3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC25A32-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC30A10-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC35A1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC39A5-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC39A8-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC45A1-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| SLC6A19-related disorder | 0 | 15 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC6A2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| SLC9A9-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| SMAD9-related disorder | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 2 |
| SMARCC2-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| SMC1A-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| SMC3-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| SMOC1-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 2 |
| SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| SNAI2-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| SNIP1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| SNTA1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| SOBP-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| SOX8-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| SPINK5-related disorder | 0 | 7 | 0 | 1 | 1 | 0 | 0 | 2 |
| SPTLC1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| SREBF2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| SRGAP3-related disorder | 0 | 19 | 0 | 2 | 0 | 0 | 0 | 2 |
| ST3GAL5-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| STAP1-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| STAT3-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 1 | 2 |
| STEAP3-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| STN1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| STX1B-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| STX3-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| SUCLG1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| SULT2B1-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| SWANN BLOOD GROUP ANTIGEN | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Segmental undergrowth associated with mainly venous malformation with capillary component | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 2 |
| Seizure; Delayed speech and language development; Macrocephaly; Joint laxity; Generalized joint hypermobility | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Seizure; Focal-onset seizure; Irregular menstruation; Confusion; Palpitations; Periventricular heterotopia; Abnormal emotional state | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Severe SARS-CoV-2 infection, susceptibility to | 0 | 0 | 0 | 2 | 0 | 0 | 2 | 2 |
| Severe global developmental delay | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Severe intellectual disability | 0 | 2 | 0 | 2 | 0 | 1 | 1 | 2 |
| Short-rib thoracic dysplasia 10 without polydactyly | 0 | 2 | 0 | 0 | 0 | 0 | 2 | 2 |
| Sialoblastoma | 0 | 0 | 1 | 2 | 0 | 0 | 0 | 2 |
| Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 | 0 | 40 | 0 | 0 | 1 | 0 | 1 | 2 |
| Sitosterolemia; Gallbladder disease 4 | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| Skeletal dysplaisia with extra-skeletal manifestations | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Skin and Hair Hypopigmentation | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Skin/hair/eye pigmentation 2, blond hair/fair skin | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Spinocerebellar ataxia, X-linked | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
| Spinocerebellar atrophy | 0 | 2 | 0 | 1 | 0 | 0 | 2 | 2 |
| Spitz Melanocytoma | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| Syndromic Infantile Encephalopathy | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| TACO1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| TACR3-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| TAF4B-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| TAOK1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| TAP2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| TAPBP-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| TBL1XR1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| TCTN2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| TEK-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| TET1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| TET3 deficiency | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 2 |
| TET3-related disorder | 0 | 19 | 0 | 2 | 0 | 0 | 0 | 2 |
| TFR2-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| TFRC-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 1 | 2 |
| TGFBI-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| THADA-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| THRA-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| TIMP3-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| TKT-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| TLR2-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| TMC8-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| TMEM199-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| TMEM237-related disorder | 0 | 5 | 0 | 0 | 2 | 0 | 0 | 2 |
| TMEM260-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 2 |
| TMPO-related disorder | 0 | 11 | 0 | 2 | 0 | 0 | 0 | 2 |
| TMTC3-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| TNFRSF6B-related disorder | 0 | 15 | 0 | 1 | 1 | 0 | 0 | 2 |
| TNFSF12-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| TOP3B-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRAIP-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 2 |
| TRAPPC2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| TRAPPC6B-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRDN-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRHR-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRIM37-related disorder | 0 | 2 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRIP12-related disorder | 0 | 8 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRIP4-related disorder | 0 | 10 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRIT1-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| TRMT10A-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| TSGA10-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| TSHZ1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| TSPAN12-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| TSPEAR-related disorder of tooth and hair follicle morphogenesis | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| TTC21A-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| TUBA1A-associated tubulinopathy | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| TUBB2A-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 2 |
| TUBB2B-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 2 |
| TUBG1-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| TUBGCP2-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| TWIST1-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| TXN2-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Thromboembolism | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Tryptophan 5-monooxygenase deficiency | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| Tyrosine kinase inhibitor response | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| UBA1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| UBA5-related disorder | 0 | 4 | 1 | 2 | 0 | 0 | 0 | 2 |
| UBAP1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 2 |
| UNC119-related disorder | 0 | 6 | 0 | 0 | 2 | 0 | 0 | 2 |
| UPK3A-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| UQCRB-related disorder | 0 | 1 | 0 | 2 | 1 | 0 | 0 | 2 |
| UQCRQ-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| USB1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| USHER SYNDROME, TYPE ID/F, DIGENIC | 0 | 2 | 0 | 0 | 0 | 0 | 2 | 2 |
| USP26-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| VAC14-related disorder | 0 | 10 | 0 | 1 | 1 | 0 | 0 | 2 |
| VARS1-related disorder | 0 | 7 | 0 | 1 | 1 | 0 | 0 | 2 |
| VAX1-related disorder | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| VKORC1-related disorder | 0 | 1 | 0 | 2 | 0 | 1 | 0 | 2 |
| VSX1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| Vascular Tumors Including Pyogenic Granuloma | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| Vascular skin disorders | 0 | 4 | 0 | 2 | 0 | 0 | 1 | 2 |
| Very early onset inflammatory bowel disease | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Vitiligo-associated multiple autoimmune disease susceptibility 1; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome; Autoinflammation with arthritis and dyskeratosis; Respiratory papillomatosis, juvenile recurrent, congenital | 0 | 9 | 0 | 1 | 1 | 0 | 0 | 2 |
| Vulvar adenocarcinoma of mammary gland type | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| WARS1-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| WIPF1-related disorder | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| X-linked MED12-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| XPA-related disorder | 0 | 5 | 0 | 2 | 1 | 0 | 0 | 2 |
| XRCC1-related disorder | 0 | 3 | 0 | 2 | 0 | 0 | 0 | 2 |
| YWHAE-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| YY1AP1-related disorder | 0 | 6 | 0 | 2 | 0 | 0 | 0 | 2 |
| ZC3H4-related disorder | 0 | 5 | 0 | 2 | 0 | 0 | 0 | 2 |
| ZHX3-related disorder | 0 | 4 | 0 | 2 | 1 | 0 | 0 | 2 |
| ZIC3-related disorder | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 2 |
| ZMYND11-related disorder | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 2 |
| ZNF143-related disorder | 0 | 9 | 0 | 2 | 0 | 0 | 0 | 2 |
| ZNF41-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 2 |
| ZNF513-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 2 |
| ZNF644-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| ZNF81-related disorder | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| ZNFX1-related disorder | 0 | 4 | 0 | 2 | 0 | 0 | 0 | 2 |
| aminoglycoside antibacterials response - Toxicity | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| atypical cerebral palsy | 0 | 3 | 0 | 0 | 2 | 0 | 0 | 2 |
| autosomal recessive MVK-related disorders | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| chronic fatigue syndrome with infection-triggered onset | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 2 |
| distinct bent bone dysplasia | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| epileptic encephalopathy, early infanitle, 1 | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
| gentamicin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| kanamycin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| methotrexate response - Efficacy | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| oligodendroglioma, 1p 19q codeleted | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 2 |
| peginterferon alfa-2b and ribavirin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| phenprocoumon response - Dosage | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| sporadic abdominal aortic aneurysm | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| streptomycin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| 11p13 microduplication syndrome | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| 11p13p14 deletion | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 16p12.3p13.12 deletion | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 16p13.1 duplication | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 16p13.11 recurrent microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 16p13.2-p13.13 microduplication syndrome | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 1p13.3 deletion syndrome | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 1q24q25 microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 21-HYDROXYLASE POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 22q13.3 interstitial deletion | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 3p25.3p26.3 deletion | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| 6q14.1q15 deletion | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| AARS-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| AASS-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 1 |
| ABCA13-related neurodevelopmental condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ABCA5-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| ABCB4-Related Intrahepatic Cholestasis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ABHD14A-ACY1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ABO blood group system | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ACAD8-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| ACD-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| ACER3-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ACHE-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ACP4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ACP5-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| ACSL4-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 1 |
| ACSL6-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| ACSS2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ACTA2-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| ACTL6A-related intellectual disability, autosomal dominant | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| ACTL6B-related recessive epilepsy | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| ACTRT1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| ADAMTS3-related disorder | 0 | 11 | 0 | 1 | 0 | 0 | 0 | 1 |
| ADGRE1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ADGRG2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ADK-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ADORA1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ADRB1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| AGA-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| AGBL1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| AGO1-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| AGTR1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| AHSP-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| AIMP2-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| AK1-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| AKT2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ALAD*1/ALAD*2 POLYMORPHISM | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ALB-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| ALBUMIN MEXICO 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ALBUMIN NAGASAKI 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ALBUMIN VANCOUVER | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ALDH6A1-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 1 |
| ALG11-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| ALG12-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ALG2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ALOXE3-related disorder | 0 | 9 | 0 | 0 | 1 | 0 | 0 | 1 |
| ALPK2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ALX1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ALX3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| AMH-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 1 | 1 |
| AMPD2-related disorder | 0 | 8 | 0 | 0 | 1 | 0 | 0 | 1 |
| AMT-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| AMZ2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ANK2-related epilepsy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ANKRD17-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| ANKRD6-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ANO5 Muscle Disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ANTICHYMOTRYPSIN BONN 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ANTICHYMOTRYPSIN ISEHARA 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ANXA1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| AP1S1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| AP1S2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| AP2S1-related Neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| AP2S1-related disorder | 0 | 4 | 0 | 0 | 0 | 0 | 1 | 1 |
| APC-mutation negative familial colorectal cancer | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APEX1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| APOB POLYMORPHISM IN SIGNAL PEPTIDE | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| APOBEC3B-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| APOC3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| APOE-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 1 |
| APOE5 VARIANT | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-I (BALTIMORE) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-I (GIESSEN) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-I (MUNSTER3B) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-I (MUNSTER4) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-I (NORWAY) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| APOLIPOPROTEIN C-II (AFRICAN) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN C-II (PADOVA) | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| APOLIPOPROTEIN C-II (SAN FRANCISCO) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOLIPOPROTEIN(a), TYPE C POLYMORPHISM | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| APOLIPOPROTEIN(a), TYPE D POLYMORPHISM | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| APP POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| APPL1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| APRT-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| AQP2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ARF1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ARF3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ARFGEF3-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| ARHGEF9-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 1 |
| ARL13B-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ASHER | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ASMT-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| ATAD3 gene cluster related condition | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| ATAD3A-related condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ATAD3A-related mitochondrial disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATAD5-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATCAY-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATG2B-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATG4D-related neurodevelopmental condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ATP11C-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATP2B1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ATP2B2-related Progressive hearing impairment | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ATP5F1D-related disorder | 0 | 8 | 0 | 0 | 1 | 0 | 0 | 1 |
| ATP6V1B2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATRIAL STANDSTILL 1, DIGENIC | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| ATRN-related disorder | 0 | 22 | 0 | 1 | 0 | 0 | 0 | 1 |
| AUH-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| AUTONOMIC NERVOUS SYSTEM DYSFUNCTION | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| AV junctional rhythm | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AVPR2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal activity of mitochondrial respiratory chain | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Abnormal blistering of the skin; Porphyrinuria; Abdominal colic | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal brainstem morphology; Abnormal cortical gyration | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal cardiac test | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Abnormal circulating carbohydrate concentration | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal circulating enzyme concentration; Rhabdomyolysis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal circulating lipid concentration | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal intrahepatic bile duct morphology | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal optic nerve morphology | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal platelet aggregation | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormal platelet function | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Abnormality of connective tissue | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormality of corpus callosum | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Abnormality of refraction | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Abnormality of the immune system | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Acanthocytosis | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Acid alpha-glucosidase, allele 2 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 1 |
| Acid alpha-glucosidase, allele 4 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Acquired partial lipodystrophy | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| Acquired susceptibility to long QT syndrome 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Acute episodes of neuropathic symptoms; Abnormality of pain sensation | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Adenosine deaminase 2 allozyme | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Adrenocortical tumor, somatic | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Adult onset hereditary spastic paraplegia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Aldosterone-producing adrenal adenoma, somatic | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Alport syndrome 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Alzheimer disease, familial, 3, with spastic paraparesis and apraxia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Alzheimer disease, late-onset, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Aminoaciduria | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Amyotrophic Lateral Sclerosis with Sensory Neuropathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Androgen deprivation therapy response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Aortic dilatation | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Apolipoprotein c-ii variant | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Arthrogryphosis | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Ascending tubular aorta aneurysm; Vascular dilatation | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Asplenia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Asthenoteratozoospermia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Asthma, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Astrocytoma, low-grade, somatic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Ataxia with Dysarthria | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Ataxia-telangiectasia without immunodeficiency | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Ataxia; intellectual deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Atrioventricular septal defect, partial, with heterotaxy syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Atypical behavior | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Mild intellectual disability; Secondary microcephaly | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Atypical behavior; Moderate global developmental delay | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Atypical retinitis pigmentosa | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autism, severe; intellectual deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autistic behavior; Absent speech | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Autistic behavior; Delayed fine motor development; Severe global developmental delay; Abnormal brainstem MRI signal intensity | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autoimmune lymphoproliferative syndrome with defective apoptosis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal Dominant TRPV4-Related Disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant ABCC8-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant ALPL-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant ATP1A3-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant BEST1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant BRCA2-related cancer types | 0 | 4 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal dominant C19orf12-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant CACNA1G-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant COL11A1-related disorders | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal dominant COL1A1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant COL1A2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant CTCF-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant FGG-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant FLG-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal dominant HNF1B-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal dominant LRP5-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal dominant MPZ-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant MYBPC3-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant NF1-related disorders | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant PAX2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant PAX6-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant PSEN1-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant SCN4A-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant SCN8A-related disorders | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant SLC4A1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant SMAD6-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant TPM1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant and autosomal recessive ABCA1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant and autosomal recessive STUB1-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal dominant familial hypercholesterolemia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal dominant hereditary axonal motor and sensory neuropathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive ABCB4-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive AIPL1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive ALPL-related disorders | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive AMACR-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive BBS2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive BCHE-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive CC2D2A-related disorders | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive CEP104-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal recessive CLCNKB-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive CLPB-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive COQ2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive CPT2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive CRB2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive DGUOK-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal recessive Dejerine-Sottas syndrome | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive ENPP1-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive EPG5-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive ERCC4-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal recessive FAT4-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive GBA-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive GBA1-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive GBE1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive GMPPB-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive GOSR2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive HEXA-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive KIAA0586-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive LRP5-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive MADD-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal recessive MPV17-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive MUTYH-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive MYO7A-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive NBAS-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive NEU1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive NPC1-related disorders | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive NPHP4-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive OCA2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive PLEKHG5-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive PNKP-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive PNPLA6-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive PNPT1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive POMGNT1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive RPE65-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive RPGRIP1L-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive SERPINA1-related disorders | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Autosomal recessive SPATA7-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autosomal recessive TCTN3-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive TK2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive TMEM216-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive VPS33B-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive chorioretinopathy-microcephaly syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal recessive infantile epilepsy | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Autosomal recessive nonsyndromic postaxial polydactyly | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal semidominant ABCC8-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal semidominant RYR1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autosomal-Recessive Hereditary Hearing Impairment | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autosomal. recessive NPHP4-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Axial myopathy, late-onset | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| B3GAT3-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| B4GALT1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| B4GAT1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| B9D1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| BAK PLATELET-SPECIFIC ANTIGEN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BAZ1B-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| BCAP31-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 1 |
| BCHE, H variant | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BCHE, flouride 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| BCHE, fluoride 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BCL2L2-PABPN1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| BCL9-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BCO1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| BEAN1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 |
| BF*FA/S | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BHLHA9-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| BIN1-related disorder | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| BLNK-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| BLOOD GROUP, JUNIOR SYSTEM | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| BLOOD GROUP--DIEGO SYSTEM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BLOOD GROUP--WALDNER TYPE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| BLOOD GROUP--WRIGHT ANTIGEN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| BLVRA-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| BMP7-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| BMS1-related disorder | 0 | 13 | 0 | 1 | 0 | 0 | 0 | 1 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| BPNT2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| BRAT1-associated neurodegenerative disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| BREAST CANCER, PROTECTION AGAINST | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| BRF1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| BRPF1-related disorder | 0 | 14 | 0 | 1 | 0 | 0 | 0 | 1 |
| BSCL2-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 0 | 1 |
| BSN-associated neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| BTRC-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Bardet-Biedl syndrome 1/7, digenic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Basal cell carcinoma, susceptibility to, 1; Curry-Jones syndrome; Congenital hypothalamic hamartoma syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Basal cell carcinoma, susceptibility to, 1; Medulloblastoma | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Becker muscular dystrophy, atypical | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Bernard-Soulier syndrome type C | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| Bernard-Soulier syndrome, type B | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Bilateral cryptorchidism; Microphallus | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Blood group, I system | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| Body mass index quantitative trait locus 12 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Branchiootorenal syndrome with cataract | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Breast cancer, invasive, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Bruising susceptibility; Fragile skin; Joint hypermobility | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Budd-Chiari syndrome, susceptibility to | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Budd-Chiari syndrome, susceptibility to, somatic | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 1 |
| Bulbar palsy; Recurrent respiratory infections; Epileptic encephalopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Bullous lung disease | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Butyrylcholinesterase activity | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| C11orf65-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| C19orf12-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| C1QA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| C1QB-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| C2 deficiency, type I | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| C2 deficiency, type II | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| C7 and C6 deficiency, combined subtotal | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| C8A-related disorder | 0 | 12 | 0 | 0 | 1 | 0 | 0 | 1 |
| CA2-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| CACNA1A-associated disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CACNG2-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CALCR-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CAMK2A-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CARBONIC ANHYDRASE II VARIANT | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| CARD10-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| CARD8-related disorder | 0 | 12 | 0 | 0 | 1 | 0 | 0 | 1 |
| CARDIOMYOPATHY, DILATED, 2N | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| CARS1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CASP12-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CASP9-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| CASQ2-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CASR-related calcium metabolism disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CASTOR3-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CATSPER1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| CAV1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| CBS POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CCAR2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CCDC141-related disorder | 0 | 12 | 0 | 0 | 1 | 0 | 0 | 1 |
| CCDC174-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CCDC22-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CCDC47-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CCDC82-Related Disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| CCNF-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CCT5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CD209-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| CD247-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CD320-related disorder | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 |
| CD3E-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CD4-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CD59-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CD70-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CD81-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDC42BPB-related disorder | 0 | 14 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDH11-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDH19-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDK20-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDK5-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CDK6-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CEL-related disorder | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| CELSR3-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CEP170B-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CEP55-related disorder | 0 | 9 | 0 | 0 | 1 | 0 | 0 | 1 |
| CEP57-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CEP63-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| CEP76-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CEP89-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CERS3-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CERT1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| CFAP251-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| CFAP53-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CFAP57-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CGNL1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHD1L-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHEK2-related cancer risk | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHKB-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHM-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHN1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHRDL1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHRM2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHRM3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHRNA3-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| CHRNA7-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHST14-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHST8-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHUK-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| CIB1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| CIROP-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| CLCN3-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CLCN6-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CLDN19-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| CLEC7A-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CLIP1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CLMP-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CLPTM1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| CLU-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CNKSR1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CNNM2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| CNOT9-associated neurodevelopmental disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| COA8-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| COG4-Related Disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| COL25A1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| COLEC11-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| COMT-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| COPA-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| COX4I1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| COX6A1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| COX6A2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| COX7B-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| COX8A-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CPB1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| CPLX1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| CPOX-related disorder | 0 | 7 | 0 | 0 | 0 | 0 | 1 | 1 |
| CPT1A POLYMORPHISM | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| CRH-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CRIPTO-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CRISPLD2-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| CRP-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| CRTAP-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| CRY1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CRYAA-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| CRYBB2-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CRYBB3-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| CRYGA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CSF1R-Related Adult-Onset Leukoencephalopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| CSNK2A1-related neurodevelopmental syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CSNK2B-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CSRP3-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| CSTB-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| CTNNA1-associated FEVR | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CTNNB1-related syndromic intellectual disability | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| CTNND1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| CTRC-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CTSA-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| CTSB-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| CTSK-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CWF19L1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| CX3CR1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CXCL12-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CXCR4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CYBB-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| CYFIP2-related neurodevelopmental disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| CYP19A1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| CYP27B1-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| CYP2B6-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| CYP2C19: decreased function | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| CYP2C19: increased function | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| CYP4F2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Ca/Tu ALLOANTIGEN POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cardiomyopathy, mitochondrial | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Cataract 17 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cataract 9, autosomal recessive | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cationic Amino Acid Transporter 2 Deficiency | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Cerebral atrophy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cerebral calcification; Intracranial hemorrhage | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cerebral hypomyelination | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Cerebro-facio-thoracic dysplasia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cerebrofacial Vascular Metameric Syndrome (CVMS) | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Charcot-Marie-Tooth disease, type 1a, autosomal recessive | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Charcot-Marie-Tooth, Intermediate | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Charcot-Marie-Tooth-like disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Childhood ganglioglioma | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Childhood onset hereditary spastic paraplegia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cholestatic liver disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Chronic and progressive ataxia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Chronic osteomyelitis | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Cirrhosis, cryptogenic | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Classical galactosemia, homozygous Duarte-type | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Clonal Cytopenia of Undetermined Significance | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Collagen IV-related nephropathies | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Collagen type 1 disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Colon cancer, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Colorectal cancer, early onset | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Colorectal cancer, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Colorectal cancer, sporadic, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Common craniosynostosis syndromes | 0 | 7 | 0 | 0 | 0 | 0 | 1 | 1 |
| Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Complement-mediated glomerular disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Congenital Erythrocytosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Congenital Muscular Dystrophy, LAMA2-related | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Congenital myopathy with cores | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Congenital nuclear cataract | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Congenital sensorineural hearing impairment | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Congenital sucrose-isomaltase deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Connective and Soft Tissue Disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Connective tissue dysplasia | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Conotruncal defect | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Conspicuously happy disposition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Continuous spike and waves during slow sleep | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Coproporphyria | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| Coronary artery disease/myocardial infarction | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Coronary sclerosis, medial, of infancy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cortical tubers | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Cough | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Crohn’s Disease | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 1 |
| Cromer blood group system | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Cystic Leukoencephalopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Cystic epithelial invagination containing papillae lined by columnar epithelium | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| D-6618 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DAB1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| DCAF8-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| DCC-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| DDHD1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| DDX11-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DDX3X-related X-linked intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| DDX54-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| DDX6-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DECR1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| DEF6-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT | 0 | 4 | 0 | 0 | 0 | 0 | 1 | 1 |
| DENND5B-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DES-related desminopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DHDDS-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| DHFR-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| DHH-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DIABETES MELLITUS, TYPE II, DIGENIC | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| DIABLO-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| DIEGO BLOOD GROUP ANTIGEN | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| DIP2C-associated disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| DLAT-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| DLK1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| DLX5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| DMGDH-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| DMPK-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| DMRT2-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| DMXL1-related disorder | 0 | 17 | 0 | 1 | 0 | 0 | 0 | 1 |
| DNAAF5-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| DNAJC12-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| DNAJC17-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| DNAJC3-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| DNAJC5-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| DNM1L-related mitochondrial disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DOCK4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DOHH related neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| DPM1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| DPM3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DRD2-associated Dystonia | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| DROSHA-related disorder | 0 | 11 | 0 | 1 | 0 | 0 | 0 | 1 |
| DSE-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| DSP-related cardiomyopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DUOXA2-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| DYM-Related Skeletal Dysplasia Syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| DYNC1H1-related neurological disorders | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| DYNLT2B-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Deafness, autosomal dominant, with peripheral neuropathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Deafness, digenic, GJB2/GJB3 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Deafness, mitochondrial, modifier of | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Deafness, with smith-magenis syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Deep venous thrombosis, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Delayed gross motor development | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Delayed gross motor development; Mild expressive language delay | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Delayed skeletal maturation | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Delayed speech and language development | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Delayed speech and language development; Pes cavus; Tip-toe gait; limited range of motion of the upper ankle | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Deleterious RAD51D Gene Mutation | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Developmental regression; Relative macrocephaly; Severe muscular hypotonia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to | 0 | 8 | 0 | 0 | 1 | 0 | 0 | 1 |
| Dilated cardiomyopathy with left ventricular noncompaction | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Disease of glomerular basement membrane | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Disorders of GNAS Inactivation | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Disrupted sleep-wake cycle with developmental delay and learning difficulty | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Distal Renal Tubular Acidosis, Recessive | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Distal arthrogryposis and CNS involvement | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Distal shortening of limbs | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Dominant congenital non-syndromic sensorineural hearing loss | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Dopamine agonists response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Down syndrome, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Duchenne or Becker muscular dystrophy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Duodenal stenosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Dysarthria; Cerebellar atrophy; Gait ataxia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Dysmetria | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Dystonia 1, torsion, late-onset | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Dystonia, adult-onset | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| EDAR-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| EDC3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| EDN3-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| EDNRA-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| EED-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| EEF1D-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| EEG with focal epileptiform discharges | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| EFCAB5-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| EFNB1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| EGR2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| EHBP1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ELF4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ELOVL1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ELOVL5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ELP4-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| EMILIN1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| EMP2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| EMX2-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| ENAM-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| EOMES-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| EPHA3-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ERF-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ERI1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ERLIN1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ERLIN2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ESPL1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ESRP1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ESRRB-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ETFA-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| EVC-associated disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| EVI2A-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| EXOC7-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| EXOSC2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| EXOSC3-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| EXOSC8-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| EXOSC9-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| EZH1-neurodevelopmental syndrome | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| EZH1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Early onset Alzheimer disease with behavioral disturbance | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Elevated basal serum calcitonin | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| Elevated circulating alkaline phosphatase concentration | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Elevated circulating creatine kinase concentration; Distal muscle weakness; Fatty replacement of skeletal muscle | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Emm-null phenotype | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Encephalocele; Severe hydrocephalus | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Encephalopathy due to GLUT1 deficiency; Epilepsy, idiopathic generalized, susceptibility to, 12 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Endocrine-cerebro-osteodysplasia syndrome; Epilepsy, juvenile myoclonic, susceptibility to, 10 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Epicanthus; Autistic behavior; Seizure; Abnormal facial shape; Moderate intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Epidermolysis bullosa pruriginosa, autosomal recessive | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| Epilepsy, childhood absence, susceptibility to, 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Epilepsy, idiopathic generalized, susceptibility to, 7 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Epilepsy, progressive myoclonic, 3, with intracellular inclusions | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Episodic coma | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Erythrocytosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Essential tremor, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Ewing sarcoma of soft tissue | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Exertional myalgia, muscle stiffness and myoglobinuria | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Exudative vitreoretinopathy 4, autosomal recessive | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| Ezetimibe response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| F12 POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| F2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| F8-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| F9 POLYMORPHISM | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAAP24-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAM157B-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAM20A-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAM234B-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAM83H-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAM98C-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| FAR1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| FAR1-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FATTY LIVER DISEASE, PROTECTION AGAINST | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FBP1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| FBXL4-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| FBXW11-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FBXW11-related neurodevelopmental, brain, eye, and digit anomalies | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| FDX2-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| FEZF2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| FGF17-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FGF23-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FIBP-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| FIBRINOGEN AARHUS 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN ASAHI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN BALTIMORE 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN BALTIMORE 3 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN CANTERBURY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN CARACAS 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN CHRISTCHURCH 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN DETROIT 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN HAIFA 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN PARIS 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN ROUEN 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FIBRINOGEN TOKYO 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| FKRP-related muscular dystrophy-dystroglycanopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FLI1-related disorder | 0 | 12 | 0 | 1 | 0 | 0 | 0 | 1 |
| FLNA-related periventricular nodular heterotopia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| FLRT3-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| FLT3-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| FNIP1-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| FOXF1-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| FOXN1-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| FSHB-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FTCD-AS1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| FTO-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FTSJ1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| FUZ-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FZD4-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| Factor B fast/slow polymorphism | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Factor V Hong Kong | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Factor VII Padua | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Familial cancer of breast; Estrogen resistance syndrome; Myocardial infarction, susceptibility to; Migraine with or without aura, susceptibility to, 1 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Familial hematuria | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Familial hypobetalipoproteinemia | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Family history of cardiomyopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Family history of sudden cardiac death | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Febrile seizures, familial, 2 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Ferrodoxin Reductase (FDXR) Deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Fetal hemoglobin quantitative trait locus 5 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Fibrinogen Milano XII, digenic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Fibrotic kidney disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Focal-onset seizure; Severe global developmental delay; Epileptic encephalopathy | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8; Autoinflammation with arthritis and vasculitis | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Fumarylacetoacetase pseudodeficiency | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 |
| Fundus albipunctatus, autosomal recessive | 0 | 6 | 0 | 0 | 0 | 0 | 1 | 1 |
| G6PC3-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| G6PD A+ | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD AGRIGENTO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD ANAHEIM | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD ANANT | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD ASAHI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD AURES | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD CAGLIARI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD CANTON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD CHATHAM | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD COSENZA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD DHON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD GAOHE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD GASTONIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD GIFU | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD GUADALAJARA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD ILESHA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD IOWA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD IOWA CITY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD JAMMU | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD KAIPING | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD KALYAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD KERALA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD KERALA-KALYAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MAHIDOL | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MAHIDOL-LIKE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MALAGA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MARION | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MEDITERRANEAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MINNESOTA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD MODENA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD NAMORU | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD NASHVILLE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD ORISSA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD PAWNEE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD PETRICH-LIKE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD PORTICI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD PUERTO LIMON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD QUING YUAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD SANTIAGO DE CUBA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD SAPPORO-LIKE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD SASSARI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD SEATTLE-LIKE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD SPRINGFIELD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD SUNDERLAND | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD TAIWAN-HAKKA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD TAIWAN-HAKKA 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD VIANGCHAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| G6PD WALTER REED | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| GABBR1-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GABRA4-associated disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| GABRA5-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GABRA6-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| GAD1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| GAL-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| GALACTOSIALIDOSIS, LATE INFANTILE | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GALK1-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| GALNTL5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| GALT POLYMORPHISM (DUARTE, D2) | 0 | 0 | 0 | 1 | 1 | 1 | 1 | 1 |
| GATB-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| GATM-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 1 |
| GBA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GBA1-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| GCGR-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| GDAP1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| GDF1-RELATED DISORDERS | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GDF3-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 1 | 1 |
| GDF5-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| GDF5OS-related condition | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| GDF9-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| GET4 deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| GFI1B-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| GGN-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| GHR-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| GHRHR-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| GIGYF1-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| GIGYF1-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| GINS1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| GJA1-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| GK-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| GLI1-related disorder | 0 | 14 | 0 | 1 | 0 | 0 | 0 | 1 |
| GLRB-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| GLRX5-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| GLUD1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| GLUL-related disorder | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| GLYCTK-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| GM2-GANGLIOSIDOSIS, CHRONIC | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| GNAL-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| GNAS-associated disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GNAT2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GNMT-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| GON4L-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GPC4-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| GPD2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GPNMB-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| GPR88-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GPR89B-related condition | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| GPRASP2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| GPX4-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| GRAMD1B-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GRHL2-related disorder | 0 | 7 | 0 | 1 | 1 | 0 | 0 | 1 |
| GRIA1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| GRIA2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| GRIA4-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| GRIK2-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| GRK1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GSTZ1-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| GTF3C3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GTPBP2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| GYS1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| GZF1-related disorder | 0 | 8 | 0 | 0 | 1 | 0 | 0 | 1 |
| Gait ataxia; Hypoplasia of the frontal lobes; Delayed fine motor development; Severe global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Gastrointestinal stromal tumor, familial | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Gemcitabine response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Generalized myoclonic seizure | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Generalized myoclonic seizure; Progressive neurologic deterioration; Inability to walk; Difficulty standing; Severe global developmental delay | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Generalized-onset seizure | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Gentamicin response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Gilbert syndrome, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Gillessen-Kaesbach-Nishimura dysplasia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Glaucoma 1, open angle, H | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Glaucoma, early-onset, digenic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Glaucoma, primary open angle, juvenile-onset | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Glipizide response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Abnormal cardiovascular system morphology; Abnormal facial shape; Brainstem dysplasia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Global developmental delay; Abnormal facial shape; Brain atrophy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Abnormal facial shape; Hyporeflexia; Neonatal hypotonia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Global developmental delay; Absent speech; Generalized hypotonia; Gastrostomy tube feeding in infancy; Decreased activity of mitochondrial complex I | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Absent speech; Limb dystonia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Clinodactyly of the 5th finger; Abnormal brain morphology | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Delayed speech and language development; Mental deterioration; Lower limb spasticity; Bilateral tonic-clonic seizure | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Global developmental delay; EEG abnormality; Exaggerated startle response | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Global developmental delay; Expressive language delay; Secondary microcephaly | 0 | 1 | 0 | 1 | 0 | 1 | 1 | 1 |
| Global developmental delay; Hyperammonemia | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Global developmental delay; Light complexion; Early onset focal segmental glomerulosclerosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Motor delay; Seizure; High palate; Abnormal facial shape; Abnormal pinna morphology; Bilateral tonic-clonic seizure; Prominent forehead; Limb tremor | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Myopathic facies; Hypotonia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Seizure; Atypical behavior; Macrocephaly; Hand tremor | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Global developmental delay; Seizure; Decreased head circumference | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Seizure; Hypotelorism; Short philtrum; Floppy infant | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Global developmental delay; Seizure; Ventral septal defect; Delayed reflexes; Dysmorphism; Hypotonia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Typical Joubert syndrome MRI findings | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Glutaric acidemia iic, late-onset | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Glycosuria | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Graft-versus-host disease, resistance to | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Growth abnormality | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| H3-3A-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| HAAO-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| HABP2-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 1 |
| HACD1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HAL-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| HANAC-like syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| HAND1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| HAND2-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| HARS1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| HARS1-related multi-system ataxia syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| HAX1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| HBB-related hemoglobinopathies | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HCN2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| HDAC1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| HDAC6-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| HDLBP-related disorder | 0 | 11 | 0 | 1 | 0 | 0 | 0 | 1 |
| HELQ-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| HEMOGLOBIN A(2) BABINGA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN A(2) YIALOUSA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ABRAHAM LINCOLN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ABRUZZO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ADANA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN AGENOGI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN AGRINIO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ALABAMA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ALESHA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ANDREW-MINNEAPOLIS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ARYA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ASABARA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ATHENS-GEORGIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN AUBAGNE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BEIRUT | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BEOGRAD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BETHESDA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BIRMINGHAM (USA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BOYLE HEIGHTS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BRESCIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BRISTOL | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BROUSSAIS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BUFFALO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BUGINESE-X | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN BUNBURY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN C | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HEMOGLOBIN CAMDEN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CAMPINAS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CARIBBEAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHAD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHAROLLES | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHESAPEAKE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHEVERLY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHIAPAS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHIBA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CHICO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CITY OF HOPE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CLINICO-MADRID | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN COCODY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN COLIMA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN CRETE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN D (CAMPERDOWN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN D (GRANADA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN D (IRAN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN D (OULED RABAH) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DARTMOUTH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DEACONESS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DEER LODGE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DENVER | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DETROIT | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DRENTHE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN DURHAM-N.C. | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN E (SASKATOON) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN EGYPT | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN EVANS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN F (AUSTELL) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN F (BROOKLYN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN F (EMIRATES) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN F (MELBOURNE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN F (SARDINIA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN FUKUYAMA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (COPENHAGEN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (COUSHATTA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (FERRARA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (GALVESTON) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (HSIN-CHU) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (NORFOLK) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (PEST) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (PORT ARTHUR) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (SAN JOSE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (SASKATOON) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (TAEGU) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (TAICHUNG) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (TAIPEI) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN G (TEXAS) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN GRANGE-BLANCHE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HAMADAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HAMILTON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HAMMERSMITH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HANDSWORTH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HASHARON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HEKINAN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HELSINKI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HIJIYAMA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HIKARI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HINSDALE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HINWIL | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HOFU | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HOPKINS 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HOPKINS 2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN HOWICK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN I (INTERLAKEN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ICARIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN INKSTER | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (BALTIMORE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (BIRMINGHAM) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (BROUSSAIS) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (GUANTANAMO) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (IRAN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (LOME) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (MEERUT) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (MEXICO) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (NORFOLK) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (OXFORD) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (PARIS 2) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (RAJAPPEN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (SARDEGNA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN J (TORONTO) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN JACKSON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN JENKINS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN JOHNSTOWN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN K (IBADAN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN K (WOOLWICH) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KAGOSHIMA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KENITRA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KENWOOD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KHARTOUM | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KNOSSOS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KOBE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KORLE-BU | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KOYA DORA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KURASHIKI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN KUROSAKI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN L (FERRARA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN LA DESIRADE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN LAS PALMAS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN LEIDEN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN LESLIE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN LOMBARD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN LUFKIN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (AKITA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (HYDE PARK) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (IWATE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (KANKAKEE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (MILWAUKEE 2) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (OLDENBURG) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (SASKATOON) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN M (SENDAI) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MAHIDOL | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MALAY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MANITOBA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MANUKAU | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MAPUTO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MEXICO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MILLEDGEVILLE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MONTGOMERY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MOTOWN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN MUSKEGON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN N (BALTIMORE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN N (COSENZA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN N (JENKINS) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN N (SEATTLE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN N (TIMONE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN NEW MEXICO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN NIGERIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN NISHIK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN NORFOLK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN O (ARAB) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN O (BUGINESE-X) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN O (INDONESIA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN O (OLIVIERE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN O (PADOVA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OCHO RIOS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OGI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OHIO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OKAYAMA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OLIVIERE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OLMSTED | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OLYMPIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OTTAWA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN OWARI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN PARK RIDGE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN PERTH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN PETAH TIKVA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN PLASENCIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN PORTO ALEGRE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN PYRGOS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN Q | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN Q (INDIA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN Q (THAILAND) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN QUEENS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN RAINIER | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN RALEIGH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN RAMPA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN RICCARTON | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ROCKFORD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN RUSS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SAALE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SAGAMI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SAKI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SALLANCHES | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SAN DIEGO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SANTA ANA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SANTA CLARA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SAVARIA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SEAL ROCK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SEALY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SHANGHAI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SHELBY | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SHOWA-YAKUSHIJI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SIAM | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SINAI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SINGAPORE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SOGN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SOUTH FLORIDA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ST. FRANCIS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ST. LUKE'S | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN STRASBOURG | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SUMMER HILL | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SUN PRAIRIE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SUNSHINE SETH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SWAN RIVER | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN SYRACUSE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TA-LI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TAGAWA I | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TAK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TAMPA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TARRANT | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TATRAS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TAYBE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TENDE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TOKUCHI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TSUKUMI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TUNIS-BIZERTE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TWIN PEAKS | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TY GARD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN TYNE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN UBE-2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN UBE-4 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN UPPSALA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN VILLEJUIF | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN VOLGA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN WASHTENAW | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN WAYNE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN WESTMEAD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN WINNIPEG | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN WOOD | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN YAOUNDE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN YUSA | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ZURICH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEMOGLOBIN ZURICH ALBISRIEDEN | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HEPHL1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| HESX1-Related Disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 1 |
| HFE POLYMORPHISM | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| HFM1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HHAT-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| HIVEP3-related disorder | 0 | 15 | 0 | 1 | 0 | 0 | 0 | 1 |
| HK2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HMGA2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| HMGCL-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| HMGCS2-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| HNMT-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HNRNPA1-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| HNRNPA2B1-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HOXA1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| HOXA10-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| HOXA2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| HOXB13-Related Cancer Predisposition | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 1 |
| HPD-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| HPDL-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| HPRT FUJIMI | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HPRT YALE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| HPRT1-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| HS6ST1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| HSD11B1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HSPA1L-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| HSPD1-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 1 |
| HTRA1-related cerebral small vessel disease | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| HYAL2 Deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HYAL2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hair morphology 1, hair thickness | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Hb D-Los Angeles | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Hearing loss and Retinal dystrophy | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Hemochromatosis, type 1, modifier of | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hemochromatosis, type 2a, modifier of | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hemoglobin Quong Sze | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Hemoglobin constant spring | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 7 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Hemorrhage | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Hepatitis B virus, resistance to | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Hepatitis B virus, susceptibility to; Immunodeficiency 45 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Hereditary spastic paraplegia 10; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Heritable Thoracic Aortic Disease | 0 | 2 | 0 | 0 | 0 | 1 | 0 | 1 |
| Hexosaminidase B (Paris) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| High density lipoprotein cholesterol level quantitative trait locus 10 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 1 |
| High myopia, early-onset | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hirschsprung disease, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Homocystinuria, pyridoxine-responsive | 0 | 6 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hyperammonemia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hypertelorism; Abnormal digit morphology; Venous malformation; Dural ectasia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hyperthyroidism, Congenital hypothyroidism | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Hypoceruloplasminemia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hypogonadotropic hypogonadism 18 with anosmia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| IBA57-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| IDH2-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 1 |
| IDH2-related mitochondrial disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| IDS-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| IDUA PSEUDODEFICIENCY | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| IER3IP1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| IFNGR1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| IFT80-related skeletal disorders | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| IFT81-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| IGF1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| IGF2-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| IGG receptor I, phagocytic, familial deficiency of | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| IGLL1-related condition | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| IHH-Related Disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| IKBKB-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| IKBKG-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| IL11RA-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| IL1RN-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| IL2RA-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| IL31RA-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| IL6ST-related disorder | 0 | 21 | 0 | 0 | 1 | 0 | 0 | 1 |
| IL7-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| IMPDH2-related neurodevelopmental condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| IMPG1-related disorder | 0 | 15 | 0 | 0 | 0 | 0 | 1 | 1 |
| INFLTR8 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| INHA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| INS-IGF2-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| IPO8 related Connective tissue disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| IPO8-related aortopathy | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| IPO8-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| IQSEC1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ISCA2-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| ISCU-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ISG15-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| ISPD-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| ITCH-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITGA2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITGA4-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITGA9-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITGAV-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITIH4-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITPR1-associated cerebellar ataxia spectrum disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ITPR1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| IYD-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| Idiopathic growth hormone deficiency | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| Idiopathic transverse myelitis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| IgE responsiveness, atopic; Susceptibility to HIV infection | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Impaired ristocetin-induced platelet aggregation | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Impaired temperature sensation | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Impaired thromboxane A2 agonist-induced platelet aggregation | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Increased susceptibility to fractures | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Infantile Nephrotic syndrome | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Infantile encephalopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Infantile osteopetrosis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Inflammatory bowel disease 10, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Inherited Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Fatal familial insomnia; Huntington disease-like 1; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| Inherited bone marrow failure syndrome | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Insulin-resistant diabetes mellitus | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Intellectual disability with episodic ataxia and congenital arthrogryposis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Intellectual disability-hypotonic facies syndrome, X-linked | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| Interleukin 6, serum level of, quantitative trait locus | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Internal malformations | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Interstitial 6q microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Intractable seizure | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Intrinsic factor deficiency, congenital, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Invasive pneumococcal disease, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Ischemic stroke; Congenital prothrombin deficiency; Pregnancy loss, recurrent, susceptibility to, 2; Thrombophilia due to thrombin defect | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Isolated GnRH Deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Isovaleric acidemia, type III | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| JARID2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| JMJD7-PLA2G4B-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Joint hypermobility | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Juvenile retinitis pigmentosa, AIPL1-related | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KANSL1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| KATNAL2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| KCNA3-associated developmental and epileptic encephalopathy | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCND2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| KCND2-related neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCNE2-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCNJ2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| KCNJ5-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| KCNJ6-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| KCNJ8-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 1 |
| KCNK3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| KCNQ1-related epilepsy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCNQ3-associated disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCTD1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| KDM2B-related syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| KDM3A-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| KDR-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| KERA-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KIAA0319-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| KIF1C-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| KIF4A-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| KIRREL3-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| KIZ-related disorder | 0 | 12 | 0 | 1 | 0 | 0 | 0 | 1 |
| KLF7-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| KLHL10-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| KLHL20-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| KLHL24-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| KLHL7-related disorder | 0 | 6 | 0 | 0 | 0 | 0 | 1 | 1 |
| KLHL9-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| KNOPS BLOOD GROUP SYSTEM | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| KRT13-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| KYNU-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Kabuki Syndrome - KDM6A | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Kabuki-like syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Karak syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Kel6 antigen | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Klippel-Trenaunay-like-Syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LARS2-Related Disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| LAT-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| LDHB-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LDLR-related familial hypercholesterolemia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LEPR POLYMORPHISM | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| LGI1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| LGI4-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| LIMS2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| LINGO1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| LINS1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| LIPG-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| LIPN-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| LIPT2-related disorder | 0 | 8 | 0 | 0 | 0 | 0 | 1 | 1 |
| LMNB1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| LMNB2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| LMO7-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LMOD3-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| LMX1A-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| LNPK-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| LOXL1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LOXL3-related Stickler syndrome, autosomal recessive | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| LPA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LPAR6-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LRAT-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| LRMDA-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| LRP10-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| LRP12-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LRP8-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| LRRC10-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LUNG CANCER, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| LYN-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Landsteiner-Wiener phenotype | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Large fontanelles; Anhydramnios | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Late-onset cone-rod dystrophy | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Late-onset spinocerebellar ataxia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Lethal skeletal dysplasia | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Letrozole response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Leukemia, acute lymphoblastic, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Levothyroxine response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Limb-girdle muscle weakness; Limb-girdle muscle atrophy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Limb-girdle muscular dystrophy, recessive | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Lobular capillary hemangiomas | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Long QT syndrome 5, acquired, susceptibility to | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 |
| Long QT syndrome 6, acquired, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Low renin, low aldosterone hypertension | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Lung cancer susceptibility 2 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Lupus nephritis, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Luteinizing hormone/choriogonadotropin receptor, lq variant | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MACROD2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MACRODACTYLY, SOMATIC | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MAN2B2-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| MAP3K1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MAP3K6-related disorder | 0 | 12 | 0 | 1 | 0 | 0 | 0 | 1 |
| MAP7D3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MAPK1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MAPK3-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MARFAN SYNDROME, AUTOSOMAL RECESSIVE | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MARFAN SYNDROME, MILD | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MAST3-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| MAT1A-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MATN3-related disorder | 0 | 5 | 0 | 1 | 1 | 0 | 0 | 1 |
| MAX-associated Macrocephaly and Polydactyly syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MBD1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MBD6-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| MBOAT7-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| MC2R-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up | 0 | 4 | 0 | 0 | 0 | 0 | 1 | 1 |
| MCHR1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MCIDAS-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MCM6-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MEG3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MELANESIAN BLOND HAIR | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| MEOX1-related disorder | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 1 |
| MESD-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| METACHROMATIC LEUKODYSTROPHY, LATE-ONSET | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| METTL23-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MFSD2A-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| MICOS13-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MINPP1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MKRN3-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| MMAA-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| MMP1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MMP13-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MMP3-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MMP9-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| MNS1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MOCOS-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| MOCS2-related molybdenum cofactor deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| MOCS3-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| MOG-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MORC2-related developmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MPV17-related mitochondrial DNA maintenance defect | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| MPZ-related polyneuropathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MPZL2-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| MR1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| MRPL3-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| MRPS14-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MRPS16-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MRPS2-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| MS4A1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MSH5-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| MSMO1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MSR1-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 1 |
| MSRB3-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| MST1R-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| MSTN-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| MT-ATP6-related mitochondrial disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MTFMT-Related Disorders | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| MTM1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| MTRFR-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| MTSS2-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MUC5B-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MUTYH-related Breast Cancer | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MYB-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MYC-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| MYCBP2-related neurodevelopmental condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MYF6-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| MYL3-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| MYMK-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MYO1C-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| MYO1F-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| Macrocephaly; Developmental delay | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Macroscopic hematuria | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Male subfertility | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Malformation of the heart and great vessels | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Malignant hyperthermia and exertional rhabdomyolosis | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Marfan syndrome, atypical | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Maternally-inherited mitochondrial myopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| McArdle disease, mild | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Meckel-Gruber-like syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Metabolic syndrome, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Methotrexate response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Micrognathia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Micromelia | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Migraine without aura; Stroke disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Mitochondrial DNA depletion syndrome 16A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Mitochondrial DNA depletion syndrome 2, myopathic form | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Mitochondrial myopathy, episodic, without optic atrophy and reversible leukoencephalopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Mo ALLOANTIGEN POLYMORPHISM | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Moderate global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Motor delay; Abnormal facial shape; Absent speech; Poor speech; Severe intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Motor delay; Limb-girdle muscle weakness; EMG abnormality | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Mucopolysaccharidosistype IIIB | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Multi-minicore disease and atypical periodic paralysis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Multifocal breast carcinoma | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Multiminicore/minicore/multicore disease | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Multiple sclerosis modifier of disease progression | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Multisystem disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Muscle dystrophy | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Congenital hip dislocation | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Muscle weakness; Headache; Gait imbalance; Difficulty walking; Paresthesia; Difficulty climbing stairs; Scapular winging; Difficulty standing | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Mycobacterium tuberculosis, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Myocardial infarction, protection against | 0 | 0 | 0 | 1 | 1 | 1 | 0 | 1 |
| Myoclonic absence seizure | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Myopathy, RYR1-associated | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| Myopathy, progressive axial with cataracts | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Myotonia | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| Myotonia; Handgrip myotonia | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| NADSYN1-related disorder | 0 | 4 | 0 | 0 | 0 | 0 | 1 | 1 |
| NANOS1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| NAT1*17 ALLELE | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| NCOR2-related disorder | 0 | 11 | 0 | 1 | 0 | 0 | 0 | 1 |
| NDP-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| NDUFA1-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| NDUFAF8-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NDUFB10-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NDUFB9-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| NDUFS7-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| NDUFV3-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| NECTIN2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| NEK8-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| NELFA-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| NEO1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| NEUROD2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NEUROG3-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| NFAT5-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| NFIB-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| NFIL3-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| NFKBIA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NHEJ1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| NHS-related disorder | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| NINL-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NIPA2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| NKX2-2-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| NLRP7-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 1 |
| NME8-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| NOBOX-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| NODAL-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| NOP56-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NOS2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| NPAS2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| NPR3-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| NPRL2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| NR3C1 POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NR3C2-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| NR4A2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| NRCAM-related disorder | 0 | 4 | 0 | 0 | 0 | 0 | 1 | 1 |
| NRXN3-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| NSD3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NSMCE3-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| NTNG1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| NUDT2-associated condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| NUMA1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| NUP155-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| NUP88-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| NUSAP1-associated neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Nemaline myopathy 3, autosomal dominant or recessive | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neonatal alloimmune thrombocytopenia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neonatal encephalopathy | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neonatal hypoglycemia | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Neurodevelopmental disorder with brain abnormalities | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuromuscular disease, congenital, with uniform type 1 fiber | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Nevus sebaceous | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| Nodal T-follicular helper cell lymphoma | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Non-syndromic male infertility due to sperm motility disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Nonsyndromic cleft lip with or without cleft palate | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Noonan-like disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OAS1 polymorphism | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 1 |
| OBESITY, RESISTANCE TO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ODAD4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OGG1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| OMG-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OPA1-Related Disorders Autosomal Recessive | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ORC4-related disorder | 0 | 4 | 0 | 1 | 1 | 0 | 0 | 1 |
| ORC6-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 1 |
| OSTM1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| OTUD4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OTUD7A-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| OTULIN-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| OTX1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| OTX2-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OVOL2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Obesity, age at onset of | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Obesity, early-onset, susceptibility to | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 1 |
| Oculomotor apraxia | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Orofacial cleft 6, susceptibility to; Van der Woude syndrome 1; Autosomal dominant popliteal pterygium syndrome | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Osteoporosis, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Ovarian Cancers | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Overgrowth syndrome and/or cerebral malformations | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| P2RX5-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| P2RX7-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| P4HTM-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PACS1-related syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PADI6-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PAK1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| PAM16-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PANX1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PARD3-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| PARK2-related Parkinson diseases | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| PARK7-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PAX7-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| PAX8 POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PCDHA9-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| PCK2-related neuropathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PDE6H-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| PDK3-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| PDLIM3-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PDSS1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PER2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PEX1-related Peroxisomal Biogenesis Disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PEX1-related Zellweger spectrum disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| PEX6 POLYMORPHISM | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| PFKM-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| PGAP1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PHACTR1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| PHF3-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| PHF7-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PHF8-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PHKA2-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| PHOX2A-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PI CHRISTCHURCH | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI F | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI I | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI KALSHEKER-POLLER | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI M(HEERLEN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI M(MALTON) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI M(PROCIDA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI M1-ALA213 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PI M2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI M3 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI M4 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI NULL(BELLINGHAM) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI NULL(CARDIFF) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI NULL(WEST) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI P(DUARTE) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI P(LOWELL) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Q0(BELLINGHAM) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Q0(CARDIFF) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI S | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI W(BETHESDA) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI X | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Z | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Z(AUGSBURG) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Z(BRISTOL) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Z(TUN) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI Z(WREXHAM) | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PI, M1A | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PICK1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIDD1-associated neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PIDD1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIGB-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIGL-related disorder | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| PIGU-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIK3C1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIK3CA-Related Overgrowth Spectrum Disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIK3R5-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PINK1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| PISD-related mitochondrial disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PITX1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| PJA1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PKP1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| PLCD1-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| PLD1-related disorder | 0 | 15 | 0 | 1 | 0 | 0 | 0 | 1 |
| PLEKHA5-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PLN-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PLP1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PLPBP-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PMFBP1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| PMP22-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PMS2-related cancer disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PMVK-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PNP POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PNPLA4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PNPO-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| POC5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| POF1B-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| POLR1B-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| POLR1D-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PORCN-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PORPHYRIA, ACUTE HEPATIC, DIGENIC | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| POU4F1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| POU6F2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPAN-P2RY11-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPARG POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPARGC1A-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPIB-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPIP5K2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPOX-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPP2CA-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| PPP2R1B-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPP2R5B-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPRC1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRDM12-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRDM6-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRDX1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRKAA2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRKAR1B-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRKCB-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| PRKCG-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| PROALBUMIN MALMO | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| PRORP-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PROTHROMBIN TYPE 3 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PRPF31-related disorder | 0 | 20 | 0 | 1 | 1 | 0 | 0 | 1 |
| PRRX1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PRSS12-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PSMA3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PSMB4-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| PSMC3IP-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PSMC5-related neurodevelopmental condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PSMD13-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTBP2-related neurodevelopmental disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| PTEN hamartoma tumor syndromes | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTF1A-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTHLH-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| PTPN12-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTPRC POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTPRJ-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTPRM-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTPRU-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTRH2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| PTS-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| PTX3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PUF60-related disorder | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| PUS3-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| PVR-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pain insensitivity | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Pancreatic cancer, susceptibility to | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Papulosquamous eruptions | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Paramyotonia congenita/hyperkalemic periodic paralysis | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Paramyotonia congenita/myotonia congenita | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Parathyroid adenoma, somatic | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Parietal foramina 2; Frontonasal dysplasia with alopecia and genital anomaly; Craniosynostosis 5, susceptibility to | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Parkinson disease, resistance to | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Paroxysmal central nervous system disorders | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Partial 18p monosomy with 18q trisomy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Pediatric metastatic thyroid tumour | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Pelizaeus-Merzbacher disease, mild | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Peroxisomal biogenesis disorder 3b | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Phenylthiocarbamide tasting | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Platinum compounds response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Polyostotic fibrous dysplasia, somatic, mosaic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Postaxial foot polydactyly; Truncal obesity; Moderate intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Postaxial polydactyly, type A1/B | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Predisposition to dissection | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Prednisolone response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Preimplantation embryonic lethality 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Prelingual sensorineural hearing impairment | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Primary Immune Deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Primary immunodeficiency or monogenic inflammatory bowel disease | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Diffuse interstitial pulmonary fibrosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Programmed death ligand-1 (PD-L1) blocking antibody response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Progressive distal muscle weakness; Progressive proximal muscle weakness | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Progressive neurodegenerative disease | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Progressive sensorineural hearing impairment | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Prolonged QT interval | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| Properdin deficiency, type II | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Propofol response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Prostate cancer susceptibility | 0 | 1 | 0 | 1 | 0 | 1 | 0 | 1 |
| Protein S Heerlen | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Proximal muscle weakness; Falls; Muscle spasm; EMG abnormality; Proximal lower limb amyotrophy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pseudoachondroplasia, severe | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Psoriasis 13, susceptibility to; Candidiasis, familial, 8 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pulmonary Surfactant Metabolism Dysfunction, Dominant | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pulmonary artery atresia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Pulmonary hypertension, primary, fenfluramine-associated | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Pure or complex autosomal recessive spastic paraplegia | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| QRICH1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Qualitative or quantitative defects of collagen 6 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Qualitative or quantitative defects of myotubularin | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RAB33B-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| RAC1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RAC3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RANBP2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 2, SOMATIC | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RAX-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| RAX2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RBCK1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| RBFOX1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| RBM28-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| RCBTB1-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| RD3-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| RDH11-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| RDH12-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RED CONE POLYMORPHISM | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RELB-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 0 | 1 |
| RELT-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| REPS1-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| RETINAL DYSTROPHY, ZEITZ-HAN TYPE | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RFC1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| RFX5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RFXAP-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RHD DEL | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| RIPK1-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 0 | 1 |
| RNASEH2C-related disorder | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| RNF113A-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| RNF125-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RNF170-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RNU2-2P-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ROR1-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 0 | 1 |
| RORC-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RP2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPE65-related retinopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPIA-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPL13-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| RPL15-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPL5-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPS15-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPS19-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RPS26-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RS1-related disorder | 0 | 6 | 0 | 1 | 1 | 0 | 0 | 1 |
| RSPH3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RSPO4-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| RTN4IP1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| RUBCN-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| RXYLT1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Rare disease with autism | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Rare disease with thoracic aortic aneurysm and aortic dissection | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Rare epilepsy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Ras Inhibitor response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Recessive Marfanoid Syndrome with Severe Herniation | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Recurrent pancreatitis | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Recurrent subcortical infarcts | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Reduced tendon reflexes; Hammertoe; Achilles tendon contracture; Distal sensory impairment; Talipes cavus equinovarus; Progressive distal muscular atrophy; Progressive distal muscle weakness; Pain | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Reduced von Willebrand factor activity; Reduced quantity of Von Willebrand factor | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Regorafenib response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Regression of motor development with severe dystonia and corresponding basal ganglia lesions | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Renal agenesis and hypodysplasia | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Renal cortical hyperechogenicity | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Renal transitional cell carcinoma | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Resting heart rate | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Retinitis pigmentosa 4, autosomal recessive | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Retinitis pigmentosa in ciliopathies, modifier of | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Retinitis pigmentosa with macular involvement | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Rett syndrome, zappella variant | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| Rhd, weak d, type I | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Right ventricular cardiomyopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Rigidity; Akinesia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Rippling muscle disease 2, autosomal recessive | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Rudimentary fibula; Ankle flexion contracture | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SAA1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SAMHD1-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| SARDH-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| SARS1-related disorder | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| SARS2-associated condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SASS6-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SBDS-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SC5D-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SCAMP5-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SCAMP5-related neurodevelopmental disorder with autistic features and seizures | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| SCFD1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| SCID with features of gamma chain deficiency | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SCN1A Seizure Disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SCN1A seizure disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| SCN3B-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| SCNN1A-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| SDR9C7-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SELENOI-related condition | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| SEMA4D-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| SEPHS1-related developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SEPTIN9-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 0 | 1 |
| SEPTOOPTIC DYSPLASIA, MILD | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SERPINA7-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SERPINB7-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SERPINB8-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SERPINE1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SETD1B-associated disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SF3B4-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| SFRP4-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| SFTPD-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SFXN4-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SGCB-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| SGCG-related congenital myopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SGMS2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SGO1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SHANK1-associated disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SHQ1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SIRT3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SIX2-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| SIX6-related disorder | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| SKI-related disorder | 0 | 14 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC12A5-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC16A1-related disorder | 0 | 12 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC1A1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC25A11-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC25A20-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC25A26-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC25A4-related disorder | 0 | 8 | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC25A40-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC26A8-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC28A1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC29A4-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC2A10-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC33A1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC35A2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC39A7-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC40A1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SLC44A1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC4A10-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC4A10-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| SLC4A3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC51B-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC6A1-related neurodevelopmental condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SLC6A5-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC7A3-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| SLC9A1-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLCO5A1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLURP1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| SMARCAD1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SMARCE1-related disorder | 0 | 7 | 0 | 1 | 1 | 0 | 0 | 1 |
| SMC1A-related cohesinopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SMOC2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SMPX-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| SMS-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SNCB-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SNRNP200-related retinal disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SNRPA-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SNX27-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SOHLH1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SOST-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SOX18-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SP110-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPAG1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPAG17-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPATA5L1-associated disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPECC1L-related syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPG11-related spastic paraplegia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SPINT2-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPNS2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPOP-related neurodevelopmental condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPOUT1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| SPR-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPTBN1-related neurodevelopmental disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SPTBN5-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| SRD5A3-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| SRGAP1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| SRRM2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| SSR4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SSTR5-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| STAC3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| STARD9-related disorder | 0 | 11 | 0 | 0 | 1 | 0 | 0 | 1 |
| STING1-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| STRADA-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| STT3A-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| STUB1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| STX11-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| STXBP1-related neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| SULF1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| SUMF1-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| SUMF2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| SUOX-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| SUPT16H-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| SURF1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| SYNCRIP-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SYNGAP1-related complex neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SYNPO-related disorder | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| SYT1-associated neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SYT2-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Sandhoff disease, chronic | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SeSAME-like syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Segmental undergrowth associated with capillary malformation | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Segmental undergrowth associated with lymphatic malformation | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Segmental undergrowth associated with venous malformation without capillary component | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| Seizure; Abnormal facial shape; Severe intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Seizure; Bilateral tonic-clonic seizure; Generalized non-motor (absence) seizure | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Seizure; Cognitive impairment; Personality changes | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Seizure; Epileptic encephalopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Seizure; Gait ataxia; Delayed fine motor development; Severe global developmental delay; Focal cortical dysplasia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Seizure; Neurodevelopmental delay; Hypotonia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Seizure; Self-injurious behavior; Tremor; Severe intellectual disability; Severe global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Seizures, benign familial infantile, 6 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Semidominant FLG-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Semidominant MFN2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Sensorineural deafness and migraine | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Serum calcium level | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Severe lactic acidosis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Short QT Syndrome 5 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Short stature; Abnormality of the skeletal system; Abnormal facial shape; Abnormality of the dentition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Short stature; Failure to thrive; Generalized muscle weakness; Delayed speech and language development; Abnormal speech pattern; Abnormality of the immune system; Hypotonia | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 |
| Short stature; Microtia; Microretrognathia; 2-3 finger cutaneous syndactyly; Hypercholesterolemia; Decreased body weight; Round ear | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Short stature; Relative macrocephaly | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Short stature; Wide mouth; Wide nasal bridge; Relative macrocephaly | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Sick sinus syndrome 3, susceptibility to | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| Sideroblastic anemia 1, late-onset | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Silver Russell Syndrome-related disorder | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| Single ventricle; small Atrial septal defect | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Skin/hair/eye pigmentation 3, blue/green eyes | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Small intestine carcinoid | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Small vessel cerebrovascular disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Sodium serum level quantitative trait locus 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Soluble interleukin-6 receptor, serum level of, quantitative trait locus | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Spastic Paraplegia, Recessive | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Spastic gait; Spastic paraplegia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Spastic tetraparesis | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Spasticity | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Spina bifida, folate-sensitive, susceptibility to | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Spinal muscular atrophy, lower extremity-predominant, 2, AD | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Splenomegaly | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Splenomegaly; Decreased circulating immunoglobulin concentration | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| Spondyloepiphyseal dysplasia, Namaqualand type | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Sporadic aniridia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Stargardt-like macular dystrophy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Sudden death | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR7 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Sweat chloride elevation without cystic fibrosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Syndromic inherited retinal disease | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Systemic lupus erythematosus, susceptibility to | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 1 |
| Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 7 | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 7 | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| TAF1-related syndromic intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TAF2-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| TAP1 deficiency, somatic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TAP1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| TARS1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| TARS2-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 1 |
| TBC1D20-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TBC1D32-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| TBC1D7-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| TBL1Y-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TBX15-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| TBXT-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| TCAP-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| TCF12-related disorder | 0 | 8 | 0 | 1 | 0 | 0 | 0 | 1 |
| TCF7L2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| TDP2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TEAD1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| TF*C2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| TFAM-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| TGDS-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| TGFB1-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 1 | 1 |
| TGFB2-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| TGM3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| THBS1-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| THG1L-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| THSD1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TIA1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TIMM22-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TJP1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TLE6-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TLL1-related disorder | 0 | 3 | 0 | 0 | 1 | 0 | 0 | 1 |
| TLR1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| TLR4-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TMC6-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| TMEM126B-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| TMEM138-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TMEM175-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TMEM94-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| TMLHE-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TNF receptor-associated periodic fever syndrome (TRAPS); Multiple sclerosis, susceptibility to, 5 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| TNFRSF11B-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| TNIK-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TNK1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| TNN-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TNNI2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TNNI3-associated disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TNS1-related disorder | 0 | 15 | 0 | 1 | 0 | 0 | 0 | 1 |
| TOP1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| TOP6BL-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TOPBP1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| TOR1A-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| TP53BP2-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| TPI1-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| TPK1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TPM2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TPM3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TPMT-related disorder | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 1 |
| TPP2-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| TPRN-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRAF3-related disorder | 0 | 2 | 0 | 1 | 1 | 0 | 0 | 1 |
| TRAF3IP1-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| TRAPPC14-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRAPPC6A-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| TRAPPC6B-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRIM22-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRIM8-related epileptic encephalopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRIOSEPHOSPHATE ISOMERASE MANCHESTER | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TRMT1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| TRMT10C-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 |
| TRPC5-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRPV4-Associated Disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRPV4-Related Hereditary Motor And Sensory Neuropathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TRPV4-associated skeletal dysplasias | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TTI2-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| TTPA-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| TUBB-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| TUMOR PREDISPOSITION SYNDROME 4, BREAST | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL | 0 | 1 | 1 | 1 | 0 | 0 | 1 | 1 |
| TWIST1-related craniofacial disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TYMS-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Thecoma, somatic | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Three Vessel Coronary Disease | 0 | 12 | 0 | 0 | 1 | 0 | 0 | 1 |
| Thrombophilia caused by F2 prothrombin deficiency | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 1 |
| Thyroxine-binding globulin deficiency | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Thyroxine-binding globulin quantitative trait locus | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Thyroxine-binding globulin, variant A | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Thyroxine-binding globulin, variant P | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Tolbutamide response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Transferrin variant B2 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Transferrin variant D(Chi) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Tretinoin response | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Trifascicular block on electrocardiogram | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Tuberous sclerosis and lymphangiomyomatosis | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Type 1 diabetes mellitus 2; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Diabetes mellitus, permanent neonatal 4 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| UBE2A-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| UBE3B-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| UBN2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| UCP2-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| UFC1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| UFSP2-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| UGT1A4-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| UGT1A8-related condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| UGT1A9-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 1 | 1 |
| ULK4-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| UMPS-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| UQCC2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| UQCRC2-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; BLOOD GROUP, JUNIOR SYSTEM | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| UROC1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| USP8-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| UVSSA-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Unexplained death in infancy and sudden unexplained death in childhood | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Unilateral microphthalmos | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Usher syndrome, type IIC, GPR98/PDZD7 digenic | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| VAMP1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| VANGL2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| VIL1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| VPS11-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| VPS16-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| VPS25-related neurodevelopmental delay | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| VPS51-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| VRK1-related disorder | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| VTN-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| VWA1-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Vascular dilatation | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Venous thrombosis, susceptibility to | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Ventriculomegaly; Abnormal brainstem morphology | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| WBP2-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| WDR1 deficiency | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| WDR45B-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| WDR48-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| WEE2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| WFS1 Spectrum Disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| WIPI2-related disorder | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| WISKOTT-ALDRICH SYNDROME, ATTENUATED | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| WLS-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| WNT1-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 1 |
| WNT10B-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| WNT3-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| WNT3A-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| WNT4-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| WNT5A-related disorder | 0 | 10 | 0 | 1 | 0 | 0 | 0 | 1 |
| WT1-related Wilms tumor | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Waardenburg syndrome type 4B; Hirschsprung disease, susceptibility to, 4 | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| X-Linked Neutropenia (XLN) | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| X-linked ARX-related disorders | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| X-linked DMD-related disorders | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| X-linked FLNA-related disorders | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| X-linked PHKA2-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| X-linked intellectual disability | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| X-linked otopalatodigital spectrum disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| X-linked retinitis pigmentosa | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| XK-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| XRCC4-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| XYLT1-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| YAP1-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| YME1L1-related disorder | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| YRDC-related disorder | 0 | 7 | 0 | 1 | 0 | 0 | 0 | 1 |
| YTHDC2-related disorder | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| YWHAG-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| YWHAZ-related neurodevelopmental syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| YY1-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZAP70-related disorder | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 1 |
| ZBTB24-related disorder | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZC4H2-related X-linked intellectual disability | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZEB1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZFP57-related disorder | 0 | 7 | 0 | 0 | 1 | 0 | 0 | 1 |
| ZFR-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZIC2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZMIZ1-related disorder | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZMPSTE24-related disorder | 0 | 4 | 0 | 0 | 0 | 0 | 1 | 1 |
| ZMYND15-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| ZNF141-related disorder | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZNF331 deletion | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| ZNF408-related disorder | 0 | 8 | 0 | 0 | 1 | 0 | 0 | 1 |
| ZNF589-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZNF668-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZNF674-related disorder | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 1 |
| ZNF711-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZNRF3-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ZP1-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZPBP-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| altered potassium channel function | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| altered red cell phenotype | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| amikacin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| atorvastatin response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| atorvastatin response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| atorvastatin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| autosomal dominant PALB2-related cancer predisposition | 0 | 9 | 0 | 1 | 0 | 0 | 0 | 1 |
| autosomal recessive ABCA4-related retinopathy | 0 | 3 | 1 | 1 | 0 | 0 | 0 | 1 |
| autosomal recessive CDH23-related disorders | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| autosomal recessive PIEZO2 associated disease | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| autosomal recessive isolated fingernail dysplasia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| benign sporadic infantile epilepsy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| clopidogrel response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| clopidogrel response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| developmental delay with intractable seizures | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| erlotinib response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| fluvastatin response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| fluvastatin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| focal and segmental glomerulosclerosis | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| gefitinib response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| heterogeneous nuclear ribonucleoprotein G, human | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| hmg coa reductase inhibitors response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| hormonal contraceptives for systemic use response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| hyprtrophic cardiomyopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| increased susceptibility to pneumonia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| intellectual deficiency; dysmorphy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ivacaftor / lumacaftor response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| ivacaftor / tezacaftor response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| lethal neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| lovastatin acid response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| lovastatin response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| lovastatin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| methamphetamine use disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| mitochondrial hepatopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| nonsyndromic sensorineural hearing loss | 0 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| p phenotype | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| phenprocoumon response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| pitavastatin response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| pravastatin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| recessive ARS-related multisystem disease | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| rosuvastatin response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| rosuvastatin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| serous cystadenoma/endometrioid carcinoma | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| simvastatin acid response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| simvastatin response - Metabolism/PK | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| simvastatin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| sorafenib response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| sporadic NAFE | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| tobramycin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| unclassified developmental and epileptic encephalopathy | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| unspecified heart condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| warfarin response - Efficacy | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| warfarin response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
All variants with conflicting interpretations #
Total variants: 109999