ClinVar Miner

Variants with conflicting interpretations, by condition

Submission 1 minimum review status: Submission 1 collection method:
Submission 2 minimum review status: Submission 2 collection method:
Minimum conflict level:

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
3953409 382558 256 99151 79236 810 19632 183195
Total conditions with conflicts: 11678
Download table as spreadsheet
Filter 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 1067088 257105 75 61138 46534 578 9134 109999
not specified 1152787 88460 12 34323 25988 246 2993 58778
Hereditary cancer-predisposing syndrome 150998 27705 7 2856 10799 0 412 13834
Cardiovascular phenotype 56216 21536 0 5916 6969 15 965 12804
Familial cancer of breast 34769 5430 2 2013 454 0 113 2523
Hereditary nonpolyposis colorectal neoplasms 13480 3623 0 857 1697 1 162 2517
Tuberous sclerosis 2 6855 1177 0 1455 373 0 35 1799
Primary ciliary dyskinesia 20991 2356 0 509 1191 0 46 1723
Familial adenomatous polyposis 1 9001 1753 1 1460 153 1 21 1602
Inborn genetic diseases 347862 5653 0 230 1307 1 65 1594
Hypercholesterolemia, familial, 1 1295 910 0 876 295 0 527 1351
Neurofibromatosis, type 1 10834 1844 0 462 540 0 148 1113
Breast and/or ovarian cancer 263 694 4 705 515 2 55 1108
Familial hypercholesterolemia 2417 814 0 716 275 0 411 1108
Spastic paraplegia 9807 1235 0 520 527 1 65 1052
RYR1-related disorder 3835 2689 13 330 509 32 308 1023
Nemaline myopathy 2 9302 792 0 255 766 0 21 1020
Malignant hyperthermia, susceptibility to, 1 1596 2557 14 204 473 38 271 901
Breast-ovarian cancer, familial, susceptibility to, 2 4176 2709 0 393 610 0 76 888
Tuberous sclerosis 1 2881 663 0 576 319 0 9 825
Breast-ovarian cancer, familial, susceptibility to, 1 6107 2416 1 303 469 0 125 736
TTN-related disorder 310 334 0 414 450 0 34 724
Familial thoracic aortic aneurysm and aortic dissection 18069 3119 0 303 377 0 69 721
Fanconi anemia 14736 1302 0 380 319 0 63 720
See cases 24729 1047 14 329 249 12 194 720
Hereditary diffuse gastric adenocarcinoma 3550 462 0 578 153 0 11 678
Hereditary breast ovarian cancer syndrome 21856 1786 4 440 194 0 61 672
Li-Fraumeni syndrome 1377 538 0 450 104 0 137 660
Colorectal cancer, susceptibility to, 10 2291 1835 2 297 372 0 3 656
Tuberous sclerosis syndrome 3182 1197 0 315 346 0 2 631
Ataxia-telangiectasia syndrome 12141 1512 0 383 229 0 55 627
Li-Fraumeni syndrome 1 278 483 0 432 62 0 120 588
Wilson disease 2052 791 0 331 183 0 139 584
Peutz-Jeghers syndrome 1367 404 0 421 189 0 11 579
Cystic fibrosis 3296 1581 1 361 133 0 191 575
Oligodontia-cancer predisposition syndrome 2656 237 0 542 25 0 4 560
Fanconi anemia complementation group A 734 668 0 264 228 0 66 520
Autosomal recessive polycystic kidney disease 4189 449 0 304 204 0 33 513
Retinal dystrophy 9655 578 0 307 54 0 117 464
Glycogen storage disease, type II 1927 502 0 290 116 3 89 454
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 1007 764 1 111 308 2 34 430
Cardiomyopathy 17171 1703 0 193 180 0 44 414
Cohen syndrome 4980 663 0 239 187 0 21 413
Malignant hyperthermia, susceptibility to, 5 660 817 1 109 290 2 33 411
Multiple endocrine neoplasia, type 1 1713 322 0 293 119 0 15 407
Phenylketonuria 948 239 0 307 35 0 87 383
Very long chain acyl-CoA dehydrogenase deficiency 1483 185 0 236 70 0 120 371
BAP1-related tumor predisposition syndrome 1913 312 1 297 67 0 5 366
Birt-Hogg-Dube syndrome 1561 272 0 268 71 0 9 340
Hypertrophic cardiomyopathy 11104 1398 0 164 73 0 115 339
Alstrom syndrome 4823 1177 5 157 154 0 12 322
Birt-Hogg-Dube syndrome 1 86 172 0 252 64 0 1 312
Hereditary cancer 72 55 0 65 288 1 6 298
Lynch syndrome 1 2461 225 0 130 177 0 10 294
Juvenile polyposis syndrome 2930 350 0 254 36 0 5 291
Marfan syndrome 2819 306 0 190 51 0 67 286
Colorectal cancer, susceptibility to, 12 286 261 1 174 98 0 4 272
Niemann-Pick disease, type C1 2107 180 0 178 71 0 47 271
Polycystic kidney disease, adult type 3504 527 0 152 38 2 93 261
Breast-ovarian cancer, familial, susceptibility to, 4 1091 307 4 221 31 0 9 256
Lynch syndrome 5 2611 227 0 129 138 0 5 253
Glycine encephalopathy 2695 263 0 144 101 0 26 252
Rare genetic deafness 250 299 0 212 3 2 58 252
Propionic acidemia 2241 222 0 147 78 0 38 251
Bloom syndrome 3198 691 0 162 90 0 12 246
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 3644 133 0 29 214 0 2 245
Maple syrup urine disease 1651 181 0 169 45 0 48 238
Adams-Oliver syndrome 5 2837 362 0 72 157 0 6 235
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 3077 158 0 20 215 0 0 235
Rett syndrome 603 281 0 137 32 0 73 235
Colorectal cancer, hereditary nonpolyposis, type 2 1707 161 0 116 127 0 14 232
Fabry disease 1235 413 0 148 31 1 66 231
Kabuki syndrome 1 616 124 0 81 138 0 16 228
RAI1-related disorder 136 264 0 80 161 0 2 228
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 3345 382 0 112 125 0 2 227
Glycogen storage disease type III 2161 438 0 145 74 0 9 223
Catecholaminergic polymorphic ventricular tachycardia 1 7659 212 0 90 136 0 23 221
Autosomal recessive limb-girdle muscular dystrophy type 2A 1315 222 1 122 61 0 47 220
Maturity-onset diabetes of the young 1696 90 21 101 68 0 32 217
BRCA2-related disorder 54 238 0 129 125 0 12 216
Retinoblastoma 2834 577 3 97 106 0 19 213
Epileptic encephalopathy 3771 765 0 101 102 1 10 207
Kabuki syndrome 5047 106 0 60 138 0 13 205
Mucopolysaccharidosis, MPS-IV-A 939 103 0 109 30 2 89 203
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 3116 108 0 56 142 0 7 203
Usher syndrome type 2A 1865 447 0 144 36 0 27 201
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2890 60 0 9 191 0 0 200
Medium-chain acyl-coenzyme A dehydrogenase deficiency 680 100 0 163 12 0 48 199
Tip-toe gait 63 24 0 37 27 0 151 198
ABCA4-related disorder 41 80 4 100 93 1 32 192
Charlevoix-Saguenay spastic ataxia 1305 237 0 86 96 0 24 190
Smith-Lemli-Opitz syndrome 707 142 0 119 48 0 40 188
Deficiency of alpha-mannosidase 1472 145 0 92 74 0 35 186
Glutaric aciduria, type 1 656 77 0 141 23 0 45 186
Galactosylceramide beta-galactosidase deficiency 1102 120 0 116 45 3 37 185
Zellweger spectrum disorders 1839 169 0 107 82 0 8 183
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 9105 378 0 28 156 0 3 181
Glycogen storage disease, type V 1145 165 0 103 65 0 29 179
Renal carnitine transport defect 869 184 0 118 40 0 45 178
KMT2D-related disorder 480 163 0 87 106 0 4 176
Long QT syndrome 12459 839 0 72 82 0 29 176
PLEC-related disorder 91 103 0 54 137 0 0 176
Maple syrup urine disease type 1A 100 108 0 123 27 0 40 173
Arrhythmogenic right ventricular dysplasia 2 9 144 0 50 121 0 3 171
Metachromatic leukodystrophy 1082 114 0 121 30 1 31 168
Ehlers-Danlos syndrome, type 4 2216 573 0 113 50 0 9 165
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 1104 220 0 55 113 0 0 164
Autosomal recessive limb-girdle muscular dystrophy type 2J 1895 194 0 157 3 0 2 161
Hereditary hyperinsulinism 171 94 0 74 82 0 13 160
PCNT-related disorder 466 631 0 54 107 0 6 160
Adrenoleukodystrophy 1255 137 0 96 39 0 39 159
Lynch syndrome 4 1593 187 1 117 41 0 11 159
Mucopolysaccharidosis, MPS-III-A 878 132 0 87 57 0 29 159
Mucopolysaccharidosis type 1 1247 203 0 90 57 3 14 158
Dilated cardiomyopathy 1DD 1713 93 0 24 130 0 9 157
Mucopolysaccharidosis, MPS-II 1034 172 0 109 13 13 40 155
Congenital hyperammonemia, type I 1672 114 0 62 81 0 21 154
Lynch syndrome 4858 549 0 90 55 0 10 153
Multiple acyl-CoA dehydrogenase deficiency 1487 106 0 95 39 0 22 153
Hypophosphatasia 365 186 0 94 10 0 51 152
Microcephaly, normal intelligence and immunodeficiency 2138 690 0 87 69 0 3 152
PKD1-related disorder 476 221 0 93 54 0 24 152
Polycystic kidney disease 4 1501 210 0 106 4 0 49 151
Familial adenomatous polyposis 2 1820 514 0 85 48 0 29 150
Hereditary pancreatitis 2342 425 1 60 75 3 39 150
Tay-Sachs disease 997 128 0 119 25 0 21 150
Retinitis pigmentosa 39 1220 166 0 126 0 0 24 147
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 3065 193 0 9 134 0 1 144
Von Hippel-Lindau syndrome 644 116 0 95 40 0 17 143
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 8 88 0 13 128 0 1 142
Hereditary spastic paraplegia 11 2826 246 0 60 82 1 7 142
Familial Mediterranean fever 768 208 0 33 112 0 18 141
Classic homocystinuria 158 148 0 95 29 0 25 140
Hereditary insensitivity to pain with anhidrosis 1026 217 0 44 92 0 7 139
Mucopolysaccharidosis type 6 729 78 0 80 26 0 49 138
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 3011 167 0 19 120 0 0 138
Biotinidase deficiency 512 75 0 109 5 0 55 137
FLNB-Related Spectrum Disorders 66 49 0 41 100 0 0 137
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 761 140 0 90 29 0 24 136
Early-onset myopathy with fatal cardiomyopathy 1873 195 0 134 0 0 1 135
POLG-related disorder 82 105 0 61 78 0 27 134
MHC class II deficiency 2253 244 0 37 100 0 2 133
Pendred syndrome 407 95 0 90 23 0 26 133
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 575 48 0 100 15 0 32 130
Familial hypokalemia-hypomagnesemia 567 155 0 85 27 0 22 130
Retinitis pigmentosa 5272 125 0 69 18 0 45 129
Alpha thalassemia-X-linked intellectual disability syndrome 2005 95 0 38 87 0 4 128
Argininosuccinate lyase deficiency 685 67 0 78 30 0 35 128
PIEZO1-related disorder 101 87 0 57 83 2 3 128
ATM-related disorder 80 189 1 58 80 0 4 126
MSH6-related disorder 15 84 0 45 88 0 2 126
Werner syndrome 3429 180 0 71 52 0 6 126
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 1 361 1 52 47 4 46 125
PKHD1-related disorder 211 131 0 31 87 1 16 125
PMM2-congenital disorder of glycosylation 559 100 0 91 19 0 28 125
Progressive sclerosing poliodystrophy 2533 236 0 72 25 0 37 124
Chédiak-Higashi syndrome 3249 240 0 48 74 0 3 122
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 5281 144 0 18 86 0 20 121
Retinitis pigmentosa 25 1025 188 0 98 9 0 20 121
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 56 138 0 18 85 0 20 120
Hereditary hemorrhagic telangiectasia 1120 143 0 55 53 0 14 120
Telangiectasia, hereditary hemorrhagic, type 1 168 152 0 54 53 0 14 119
DICER1-related tumor predisposition 5448 281 0 63 41 0 19 118
Epidermolysis bullosa dystrophica inversa, autosomal recessive 17 79 0 17 101 0 4 118
Asphyxiating thoracic dystrophy 3 526 76 0 99 7 0 16 117
Cholestanol storage disease 880 101 0 77 36 0 17 117
Primary hyperoxaluria, type I 357 77 0 82 31 0 11 117
Autosomal recessive DOPA responsive dystonia 901 135 0 48 56 0 18 115
Nephrolithiasis/nephrocalcinosis 1261 261 0 48 63 1 10 115
PTEN hamartoma tumor syndrome 1774 231 0 57 20 0 47 115
Dyskeratosis congenita 5201 290 0 44 68 0 7 114
Finnish congenital nephrotic syndrome 663 109 0 80 14 0 26 114
Glanzmann thrombasthenia 887 129 0 49 38 0 29 114
Landau-Kleffner syndrome 1784 71 0 54 54 0 9 114
PRPH2-related disorder 356 101 0 67 14 0 40 114
TSC2-related disorder 127 141 0 65 58 0 2 114
Charcot-Marie-Tooth disease axonal type 2O 4293 76 0 30 71 0 14 112
Ehlers-Danlos syndrome, dermatosparaxis type 1431 231 0 31 82 0 1 112
MECP2-related disorder 81 65 0 72 50 0 5 112
Neurofibromatosis, type 2 1514 298 0 33 81 0 7 111
ADGRV1-related disorder 24 49 0 54 74 0 3 110
GLUT1 deficiency syndrome 1, autosomal recessive 543 182 0 56 45 0 21 110
Aortic aneurysm, familial thoracic 4 2243 116 0 36 75 0 3 109
LAMA2-related muscular dystrophy 4204 109 0 60 47 0 2 109
MSH2-related disorder 11 44 0 32 86 0 2 108
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 67 104 0 5 96 1 10 107
BRCA1-related disorder 42 94 1 78 49 0 5 106
Jeune thoracic dystrophy 3547 7 0 90 1 0 24 106
Peroxisome biogenesis disorder 1A (Zellweger) 102 62 0 63 39 0 7 106
WFS1-Related Spectrum Disorders 43 59 0 55 52 0 3 106
CREBBP-related disorder 471 108 0 53 59 0 4 105
SYNE1-related disorder 65 63 0 62 64 0 0 105
Woolly hair-skin fragility syndrome 28 45 0 20 85 0 0 105
APC-related disorder 118 117 0 51 69 0 2 104
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 750 47 0 92 20 0 2 104
Polyglandular autoimmune syndrome, type 1 988 170 0 53 47 0 7 104
Thyrotoxic periodic paralysis, susceptibility to, 1 1 237 0 72 31 0 5 104
Combined malonic and methylmalonic acidemia 741 95 0 71 25 0 11 103
Congenital muscular dystrophy due to partial LAMA2 deficiency 84 79 0 34 68 0 2 103
Severe early-childhood-onset retinal dystrophy 451 59 1 93 1 1 11 103
OBSCN-related disorder 57 154 0 92 10 0 1 102
Tyrosinemia type I 602 92 0 62 33 1 13 102
Congenital contractural arachnodactyly 2802 124 0 36 57 0 8 101
Glycogen storage disease, type IV 146 70 0 64 29 0 17 101
Maturity-onset diabetes of the young type 1 65 38 9 32 53 0 11 101
Holocarboxylase synthetase deficiency 793 76 0 49 40 0 14 98
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 1113 291 0 31 67 0 0 98
Autosomal recessive nonsyndromic hearing loss 4 592 61 0 46 14 40 14 97
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 679 61 0 60 29 0 15 97
Hereditary spastic paraplegia 7 722 85 0 54 29 0 19 97
Deficiency of acetyl-CoA acetyltransferase 573 74 0 65 18 0 15 96
Autosomal recessive limb-girdle muscular dystrophy type 2D 537 125 0 55 24 0 22 95
Retinitis pigmentosa 12; Leber congenital amaurosis 8 1449 80 0 73 15 0 14 95
Saldino-Mainzer syndrome 1700 77 0 17 75 0 3 95
USH2A-related disorder 23 80 0 59 39 0 17 94
Alkaptonuria 453 52 0 67 13 0 20 93
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 103 0 27 65 0 5 93
Isovaleryl-CoA dehydrogenase deficiency 586 65 0 62 13 0 24 93
Schimke immuno-osseous dysplasia 959 167 0 41 53 0 5 93
Cobalamin C disease 364 133 0 62 18 0 19 92
3-methylcrotonyl-CoA carboxylase 1 deficiency 679 92 0 54 24 0 14 91
Autosomal recessive nonsyndromic hearing loss 77 655 98 0 35 53 0 11 90
Cornelia de Lange syndrome 1 1428 182 0 37 47 0 12 90
Hirschsprung disease, susceptibility to, 1 138 166 1 44 44 2 13 90
Hypercholesterolemia, autosomal dominant, 3 690 268 0 40 49 4 13 90
Mucolipidosis type IV 749 63 0 40 49 0 5 89
POLE-related disorder 7 181 0 43 57 0 7 89
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 739 141 0 47 38 0 3 88
VPS13B-related disorder 687 192 0 22 69 0 0 88
Breast-ovarian cancer, familial, susceptibility to, 3 681 80 4 41 32 0 13 87
Gorlin syndrome 5332 130 0 35 47 0 7 87
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 116 234 0 28 59 0 0 87
ARID1B-Related Disorder 68 64 0 69 21 0 2 86
Autosomal recessive retinitis pigmentosa 87 119 0 36 43 0 13 86
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 47 82 0 40 44 0 2 86
Sandhoff disease 679 63 0 57 20 0 17 86
Aortic aneurysm, familial thoracic 7 1945 85 0 20 60 0 6 85
Charcot-Marie-Tooth Neuropathy X 566 103 0 49 15 0 25 85
Cystinuria 567 83 0 39 26 0 27 85
Donnai-Barrow syndrome 975 187 0 44 42 0 2 85
History of neurodevelopmental disorder 23 37 0 57 37 0 6 85
KBG syndrome 2012 186 0 65 14 0 8 85
Multiple endocrine neoplasia, type 2 2317 823 0 27 56 0 2 85
Niemann-Pick disease, type A 262 63 0 61 11 0 17 85
Autosomal recessive nonsyndromic hearing loss 1A 174 71 0 53 11 0 26 84
Hereditary spastic paraplegia 4 1038 81 0 58 10 0 20 84
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 694 51 0 54 16 0 20 84
RASopathy 7401 270 0 63 11 0 12 84
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 551 93 0 53 19 0 19 84
Carnitine palmitoyltransferase II deficiency 814 113 0 34 42 0 10 83
EP300-related disorder 475 98 0 47 40 0 0 83
Inherited breast cancer and ovarian cancer 85 162 2 44 32 0 18 83
Seizure 232 123 0 44 18 1 27 83
3-methylcrotonyl-CoA carboxylase 2 deficiency 621 69 0 60 14 0 13 82
Arrhythmogenic right ventricular dysplasia 9 1408 150 0 45 40 0 3 82
CACNA1A-related disorder 67 57 0 54 35 0 6 82
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 448 57 0 56 15 0 16 82
Lysinuric protein intolerance 623 112 0 51 27 0 6 82
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 27 42 0 44 40 0 1 81
Charcot-Marie-Tooth disease 3106 58 0 10 16 0 58 81
Hereditary fructosuria 408 35 0 52 24 0 11 81
X-linked Alport syndrome 1121 120 0 56 8 0 22 81
Glucose-6-phosphate transport defect 750 193 0 45 30 0 9 80
Infantile neuroaxonal dystrophy 754 52 0 37 19 0 28 80
Mowat-Wilson syndrome 1114 100 0 41 37 0 2 79
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; not provided; Hypertrophic cardiomyopathy 26 4805 81 0 13 65 0 1 79
Spongy degeneration of central nervous system 367 42 0 55 14 0 13 79
ZNF469-related disorder 3 72 0 50 47 0 0 79
Autosomal recessive nonsyndromic hearing loss 3 743 89 0 42 16 0 23 78
Monogenic hearing loss 63 67 1 55 2 0 35 78
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 11 84 0 13 64 0 1 78
Pyridoxine-dependent epilepsy 804 131 0 49 22 0 9 78
APC-Associated Polyposis Disorders 52 42 0 37 49 0 0 77
Alport syndrome 1300 133 0 52 19 0 8 77
Ataxia-telangiectasia-like disorder 1 148 153 0 51 27 0 5 77
Bardet-Biedl syndrome 7381 95 0 61 3 0 13 77
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 4733 905 0 16 61 0 0 77
Neuronal ceroid lipofuscinosis 3560 134 0 35 31 0 11 77
Spherocytosis 104 30 0 13 64 0 0 77
Ataxia-telangiectasia-like disorder 849 150 0 49 27 0 5 76
CHARGE syndrome 3798 113 0 38 30 1 8 76
Hypertrophic cardiomyopathy 4 396 93 0 56 10 0 17 76
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 1483 96 0 20 58 0 0 76
Pyruvate carboxylase deficiency 1268 32 0 28 41 0 9 76
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 1578 337 0 23 50 0 2 75
Telangiectasia, hereditary hemorrhagic, type 2 772 131 0 47 13 0 15 75
Familial hemophagocytic lymphohistiocytosis 3 1474 86 0 26 48 0 3 74
Ornithine carbamoyltransferase deficiency 543 117 0 36 23 0 22 74
Usher syndrome type 1 1583 149 0 44 21 0 12 74
Autosomal recessive congenital ichthyosis 1 322 62 0 55 15 0 13 73
CFTR-related disorder 1534 171 0 40 22 0 21 73
Combined immunodeficiency due to DOCK8 deficiency 2144 113 0 16 57 0 2 73
Hemolytic uremic syndrome, atypical, susceptibility to, 1 56 113 3 45 27 0 7 73
Hereditary spastic paraplegia 49 1145 134 0 34 37 0 2 73
Ornithine aminotransferase deficiency 539 54 0 51 16 0 9 73
CHEK2-related cancer predisposition 29 86 3 37 20 0 21 72
Citrullinemia type I 244 57 0 55 9 0 15 72
Deficiency of butyryl-CoA dehydrogenase 341 40 0 39 16 0 32 72
Ehlers-Danlos syndrome, classic type, 1 4654 146 0 38 27 0 7 72
Gastrointestinal stromal tumor 5958 225 8 23 40 0 3 72
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 625 60 0 48 8 0 29 71
DMD-related disorder 31 35 0 45 42 0 0 71
Hereditary spastic paraplegia 48 763 66 0 17 52 0 2 71
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 728 160 0 21 49 0 1 71
Anophthalmia-microphthalmia syndrome 204 108 0 26 42 1 5 70
LRP2-related disorder 14 80 0 39 40 0 1 70
MLH1-related disorder 12 37 0 32 44 0 5 70
Multiple sulfatase deficiency 653 53 0 36 29 0 6 70
Niemann-Pick disease, type C 15 32 0 67 0 0 15 70
PLA2G6-associated neurodegeneration 54 38 0 29 18 0 24 70
Usher syndrome type 1B 670 132 0 43 21 0 9 70
Arrhythmogenic right ventricular dysplasia 10 1420 52 0 35 27 0 10 69
Brugada syndrome 1 420 178 0 33 27 0 14 69
Carnitine palmitoyl transferase 1A deficiency 884 102 0 35 27 0 10 69
Disorders of Intracellular Cobalamin Metabolism 289 123 0 39 31 1 2 69
HSPG2-related disorder 12 36 0 47 33 0 0 69
Hypertrophic cardiomyopathy 1 902 75 0 48 11 0 16 69
NEB-related disorder 90 59 0 22 53 0 2 69
PMS2-related disorder 5 55 0 30 44 0 4 69
CFI-related disorder 100 53 4 33 8 0 35 68
Carnitine deficiency 37 20 0 60 4 0 19 68
Congenital factor V deficiency 750 49 1 15 51 0 2 68
FOXG1 disorder 614 63 0 45 20 0 8 68
LAMA5-related disorder 104 163 0 56 12 0 2 68
PTCH1-related disorder 79 60 0 40 34 0 2 68
Chitotriosidase deficiency 108 9 0 8 65 3 0 67
Factor V deficiency 131 51 1 14 51 0 2 67
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 39 36 0 46 3 0 20 67
Hyperkalemic periodic paralysis 1787 95 0 34 29 0 4 67
MYO7A-related disorder 16 79 0 27 41 0 7 67
NOTCH3-related disorder 25 29 0 48 22 0 4 67
Deficiency of galactokinase 429 38 0 38 22 0 11 66
FRAS1-related disorder 34 94 0 35 41 0 0 66
Kleefstra syndrome 1 2046 65 0 24 39 0 4 66
Pyruvate dehydrogenase E1-alpha deficiency 636 65 0 44 9 0 14 66
Sotos syndrome 757 109 0 39 19 0 9 66
ALG6-congenital disorder of glycosylation 1C 685 55 0 48 17 0 5 65
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 68 71 0 48 4 0 14 65
MPI-congenital disorder of glycosylation 455 44 0 36 25 0 6 65
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 825 37 0 46 3 0 18 65
NOTCH1-related disorder 97 81 0 47 22 0 1 65
Short-rib thoracic dysplasia 6 with or without polydactyly 678 31 0 31 29 0 6 65
Aspartylglucosaminuria 407 52 0 47 17 0 3 64
FGFR2-related craniosynostosis 339 117 0 37 25 1 3 64
Familial cold autoinflammatory syndrome 2 1123 108 0 23 34 0 10 64
Fanconi anemia complementation group C 418 77 0 46 19 0 3 64
Hereditary spastic paraplegia 39 1165 28 0 15 48 0 2 64
Noonan syndrome 9 1317 153 0 27 37 0 0 64
Bethlem myopathy 1A 6458 84 0 20 32 0 14 63
COL11A2-related disorder 14 57 0 20 45 0 2 63
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1784 280 0 36 23 0 5 63
FLNA-related disorder 107 86 0 38 34 0 1 63
Neuronal ceroid lipofuscinosis 1 568 79 0 50 11 0 8 63
PHGDH deficiency 732 62 0 34 26 0 8 63
Perlman syndrome 2088 115 0 22 43 0 2 63
ANK2-related disorder 26 25 0 45 16 0 4 62
Autosomal dominant Parkinson disease 8 841 114 1 32 34 0 4 62
Autosomal recessive limb-girdle muscular dystrophy type 2B 927 91 0 44 9 0 12 62
Duchenne muscular dystrophy 8257 233 0 39 11 0 15 62
FBN1-related disorder 88 58 0 40 25 0 4 62
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 818 220 0 19 42 0 1 62
COL11A1-related disorder 46 54 0 26 39 0 2 61
COL6A3-related disorder 53 39 0 31 37 0 3 61
COL7A1-related disorder 21 86 0 32 29 0 8 61
Colorectal cancer, hereditary nonpolyposis, type 7 1227 37 0 26 23 0 14 61
Hereditary factor VIII deficiency disease 646 82 0 47 8 0 15 61
Hereditary spherocytosis type 1 694 110 0 35 24 0 2 61
Isolated Nonsyndromic Congenital Heart Disease 39 23 0 37 31 0 0 61
Progressive familial heart block type IB 1563 41 0 18 44 0 4 61
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1106 60 0 21 35 0 5 61
Bardet-Biedl syndrome 10 345 70 0 37 12 0 12 60
CEP290-related disorder 417 138 0 18 42 0 2 60
CHD7-related disorder 127 68 0 36 34 0 4 60
COL2A1-related disorder 53 70 0 23 37 0 4 60
EGFR-related lung cancer 2931 164 0 35 22 3 3 60
Methylmalonic aciduria, cblB type 420 61 0 33 26 0 9 60
NF1-related disorder 212 159 0 29 32 0 2 60
PALB2-related disorder 17 101 0 32 32 0 0 60
ANKRD11-related disorder 105 47 0 50 9 0 1 59
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2594 77 0 22 25 0 15 59
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 3 19 0 14 45 0 0 59
Hereditary antithrombin deficiency 310 51 0 31 18 0 20 59
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 347 70 0 23 27 0 21 59
Intellectual disability, CASK-related, X-linked 446 78 0 29 31 0 5 59
NPHP4-related disorder 125 48 0 9 52 0 1 59
Primary ciliary dyskinesia 3 862 145 0 36 16 0 8 59
beta Thalassemia 275 104 0 49 7 0 6 59
CDH23-related disorder 17 71 0 32 28 0 1 58
Developmental and epileptic encephalopathy, 14 57 277 0 36 17 0 6 58
FAT4-related disorder 24 81 0 37 25 0 0 58
FBN3-related disorder 5 101 0 42 19 0 0 58
FLNC-related disorder 22 71 0 45 25 0 4 58
MYH7-related disorder 27 64 0 38 10 0 16 58
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 29 26 0 49 1 2 20 58
Stargardt disease 186 32 0 53 0 1 7 58
ABCB11-related disorder 35 59 0 22 38 0 5 57
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 55 67 0 47 0 0 13 57
Cowden syndrome 1 864 77 0 41 13 0 6 57
Creatine transporter deficiency 954 56 0 33 20 0 4 57
LZTR1-related disorder 17 65 0 39 12 0 11 57
Leber congenital amaurosis 2; Retinitis pigmentosa 20 703 78 0 42 3 0 14 57
Mucopolysaccharidosis, MPS-III-B 261 37 0 35 12 0 17 57
VPS13A-related neurodegenerative disease 706 73 0 38 22 0 0 57
Alpha-1-antitrypsin deficiency 346 19 1 30 19 0 8 56
CDH1-related disorder 20 32 0 35 25 0 1 56
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 40 70 0 36 19 0 3 56
Neuroblastoma, susceptibility to, 3 4311 433 3 23 30 0 1 56
Primary hyperoxaluria, type II 192 42 0 33 16 0 11 56
Progressive familial intrahepatic cholestasis type 2 401 77 0 24 8 0 25 56
SMARCA4-related disorder 83 72 0 36 18 0 2 56
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 242 29 0 38 6 0 19 55
Fanconi anemia complementation group E 611 111 0 28 26 0 5 55
Fetal anomalies with a likely genetic cause 75 38 1 35 5 3 25 55
Hereditary pheochromocytoma and paraganglioma 2242 244 0 30 16 0 10 55
Leukocyte adhesion deficiency 1 718 58 0 18 36 0 1 55
Primary dilated cardiomyopathy 3605 76 1 18 14 0 22 55
RPE65-related recessive retinopathy 53 77 0 40 3 0 14 55
TP53-related disorder 35 45 5 35 19 1 2 55
APOB-related disorder 17 52 0 32 26 0 2 54
Cranioectodermal dysplasia 1 629 139 0 21 30 0 4 54
Ellis-van Creveld syndrome; Curry-Hall syndrome 3175 54 0 46 8 0 0 54
FLNB-related disorder 21 38 0 19 40 0 0 54
MYBPC3-related disorder 17 51 0 41 16 0 5 54
SCN5A-related disorder 13 48 0 40 13 0 10 54
Salla disease 508 34 0 40 14 0 2 54
Transitory neonatal diabetes mellitus 386 27 0 2 49 0 3 54
Tyrosinase-positive oculocutaneous albinism 165 47 0 28 12 0 24 54
ABCG8-related disorder 18 39 0 21 40 1 2 53
ARID1A-related disorder 44 31 0 36 20 0 2 53
Autosomal recessive limb-girdle muscular dystrophy type 2E 423 71 0 36 9 0 11 53
Bardet-Biedl syndrome 1 330 136 0 40 9 0 8 53
DYSF-related disorder 31 24 0 17 36 0 5 53
Diabetes mellitus, transient neonatal, 2 44 36 0 1 50 0 2 53
Glycogen storage disease, type VII 819 86 0 28 22 0 5 53
Intellectual disability, autosomal dominant 5 1380 62 0 21 25 0 9 53
Koolen-de Vries syndrome 979 105 0 23 29 0 4 53
MACF1-related disorder 58 46 0 45 11 0 0 53
MYO15A-related disorder 7 37 0 33 23 0 4 53
Microcephaly 5, primary, autosomal recessive 452 208 0 39 14 0 1 53
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 21 86 0 22 28 0 5 53
Primary hyperoxaluria type 3 214 41 0 28 11 0 16 53
SETX-related disorder 79 76 0 32 30 0 1 53
ANKRD1-related dilated cardiomyopathy 203 140 0 31 23 0 1 52
CC2D2A-related disorder 90 35 0 21 30 0 5 52
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 705 33 0 3 49 0 0 52
Familial infantile myasthenia 845 41 0 27 20 0 5 52
Nephronophthisis 15 1168 228 0 34 15 0 5 52
RYR2-related disorder 15 41 0 36 20 0 4 52
Acrocallosal syndrome 1226 68 0 9 41 0 2 51
COL6A2-related disorder 54 22 0 18 35 0 2 51
Ellis-van Creveld syndrome 823 79 0 38 9 0 7 51
Hyperinsulinemic hypoglycemia, familial, 1 398 52 0 36 3 0 14 51
Inherited ovarian cancer (without breast cancer) 19 72 1 30 20 0 7 51
Long QT syndrome 1 564 107 0 39 2 0 11 51
MYH6-related disorder 23 74 0 40 17 0 1 51
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 62 118 0 36 15 0 2 51
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 425 97 0 28 21 0 3 51
Pyruvate dehydrogenase E3 deficiency 538 43 0 29 20 0 2 51
RET-related disorder 72 57 1 19 32 0 2 51
ABCC2-related disorder 41 87 0 25 26 0 3 50
Corticosterone methyl oxidase type II deficiency 77 43 0 27 22 0 1 50
Developmental and epileptic encephalopathy, 2 235 52 0 23 16 0 15 50
KCNQ1-related disorder 96 46 0 47 6 0 1 50
Mucopolysaccharidosis type 7 587 31 0 26 13 1 13 50
Multiple endocrine neoplasia type 2A 457 61 0 19 29 0 4 50
NOTCH2-related disorder 140 36 0 14 39 0 0 50
SYNE2-related disorder 43 33 0 25 31 0 0 50
TNXB-related disorder 20 60 0 27 27 0 1 50
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 77 151 0 13 34 0 2 49
COL4A3-related disorder 28 43 0 22 16 0 18 49
GNE myopathy 275 44 0 40 0 0 11 49
Hereditary factor XI deficiency disease 219 21 0 35 2 0 15 49
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 105 179 0 23 26 0 5 49
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 485 148 0 9 38 0 2 49
Jeune thoracic dystrophy; Nephronophthisis 880 151 0 13 34 0 2 49
Macular dystrophy 15 14 1 39 2 0 16 49
NPC1-related disorder 90 33 0 21 28 0 5 49
Neurodevelopmental delay 197 52 0 34 4 0 13 49
OTOG-related disorder 19 52 0 24 30 0 0 49
Pigmentary pallidal degeneration 576 32 0 28 16 0 8 49
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 15 38 0 43 2 0 10 49
ALG1-congenital disorder of glycosylation 703 123 0 31 9 0 10 48
BRIP1-related disorder 21 70 0 31 19 0 4 48
COL4A4-related disorder 30 51 0 22 14 0 18 48
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 16 28 2 21 11 4 29 48
Deficiency of aromatic-L-amino-acid decarboxylase 494 29 0 23 15 0 10 48
Developmental and epileptic encephalopathy, 36 960 74 0 30 14 0 4 48
FAT1-related disorder 93 78 0 28 21 0 0 48
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 3066 29 0 15 31 0 2 48
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 370 26 0 32 16 0 1 48
MEGF10-related myopathy 846 32 0 8 39 0 1 48
PCDH15-related disorder 13 24 0 30 24 0 1 48
PHIP-related disorder 168 110 0 16 32 0 0 48
Plasma factor XI deficiency 89 64 0 28 15 0 9 48
X-linked severe combined immunodeficiency 382 43 0 33 10 0 5 48
Autosomal recessive osteopetrosis 1 360 83 0 34 9 0 5 47
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 745 24 0 12 33 0 2 47
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 67 24 0 12 33 0 2 47
Joubert syndrome 2690 45 0 14 21 0 15 47
Menkes kinky-hair syndrome 509 8 0 5 2 0 44 47
NSD1-related disorder 32 32 0 32 25 0 0 47
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 34 58 0 22 15 0 13 47
Severe X-linked myotubular myopathy 623 58 0 30 8 0 9 47
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 843 45 0 17 16 0 15 46
EBV-positive nodal T- and NK-cell lymphoma 507 18 0 3 38 0 6 46
GNAS-related disorder 338 100 0 17 27 0 4 46
Glycogen storage disease IXb 973 29 0 20 25 0 3 46
Hereditary sensory neuropathy-deafness-dementia syndrome 1343 44 0 24 18 0 6 46
Methylmalonic aciduria, cblA type 483 61 0 29 15 0 6 46
Pierson syndrome 44 59 0 13 32 0 1 46
Pontocerebellar hypoplasia type 6 210 69 0 29 7 0 12 46
Usher syndrome type 2A; Retinitis pigmentosa 39 638 89 0 23 6 0 18 46
COL5A1-related disorder 44 36 0 27 20 0 0 45
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 1312 54 0 38 3 0 4 45
Cystinosis 67 52 0 25 16 0 4 45
DSP-related disorder 20 37 0 27 24 0 3 45
Ehlers-Danlos syndrome, kyphoscoliotic type 1 896 90 0 11 32 0 3 45
Fraser syndrome 1 1038 126 0 24 21 0 1 45
Myopathy, proximal, and ophthalmoplegia 1301 133 0 16 25 0 7 45
POLD1-related disorder 32 90 0 27 26 0 0 45
Peroxisome biogenesis disorder 6A (Zellweger) 62 31 0 26 16 0 3 45
Peroxisome biogenesis disorder, complementation group 7 613 31 0 26 16 0 3 45
Rafiq syndrome 360 48 0 12 28 0 6 45
Rubinstein-Taybi syndrome due to CREBBP mutations 341 55 0 16 26 0 4 45
ANKRD26-related disorder 19 41 0 24 27 0 0 44
AXIN2-related disorder 25 39 0 27 26 0 1 44
Autosomal recessive limb-girdle muscular dystrophy type 2C 393 83 0 32 8 0 5 44
Bardet-Biedl syndrome 2 302 44 0 27 11 0 7 44
COL1A1-related disorder 88 60 0 27 17 0 2 44
Cardiac arrhythmia, ankyrin-B-related 396 65 0 40 4 0 3 44
Charcot-Marie-Tooth disease dominant intermediate B 1109 39 0 17 11 0 19 44
Cortical dysplasia-focal epilepsy syndrome 1445 95 0 12 33 0 0 44
DYNC1H1-related disorder 98 61 0 33 12 0 3 44
Hyperammonemia, type III 552 43 0 25 18 0 4 44
JAG1-related disorder 76 57 0 16 31 0 1 44
LAMA2-related disorder 32 24 0 9 36 0 2 44
Pitt-Hopkins syndrome 837 41 0 28 15 0 5 44
RELN-related disorder 59 17 0 22 27 0 0 44
SACS-related disorder 7 25 0 29 21 0 0 44
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 644 75 0 19 25 0 4 44
TP63-Related Spectrum Disorders 472 58 0 27 17 0 3 44
ABCB4-related disorder 43 65 0 15 24 0 7 43
ALPK3-related disorder 7 38 0 41 7 0 1 43
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 167 63 0 27 24 0 1 43
Arrhythmogenic right ventricular cardiomyopathy 1593 41 0 21 11 0 14 43
Immunodeficiency 104 1565 43 0 14 24 0 5 43
KMT2A-related disorder 27 54 0 32 12 0 0 43
Microcephalic osteodysplastic primordial dwarfism type II 526 98 0 21 20 0 2 43
Nephrotic syndrome, type 2 156 53 0 32 3 0 10 43
Succinate-semialdehyde dehydrogenase deficiency 672 73 0 14 16 0 14 43
TSC1-related disorder 44 45 0 19 35 0 0 43
Arrhythmogenic right ventricular dysplasia 11 1208 101 0 16 28 0 0 42
CACNA1S-related disorder 10 37 0 19 23 0 4 42
COL18A1-related disorder 34 107 0 21 22 0 2 42
Dyslipidemia 35 48 0 30 2 0 12 42
Lethal multiple pterygium syndrome 993 34 0 5 32 0 5 42
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 121 40 0 35 0 0 9 42
STK11-related disorder 13 23 0 34 16 0 0 42
Severe combined immunodeficiency due to DCLRE1C deficiency 907 133 0 17 17 0 8 42
TJP2-related disorder 27 33 0 13 33 0 2 42
Thrombophilia due to protein C deficiency, autosomal dominant 303 27 0 17 11 0 16 42
Arterial tortuosity syndrome 415 51 0 19 21 0 4 41
Brugada syndrome 3580 157 0 23 11 0 11 41
Deficiency of hydroxymethylglutaryl-CoA lyase 405 52 0 24 11 0 7 41
Familial hemophagocytic lymphohistiocytosis 5 1057 44 0 18 22 0 2 41
Hermansky-Pudlak syndrome 322 69 0 27 9 0 5 41
Hermansky-Pudlak syndrome 1 263 80 0 28 9 0 4 41
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 196 65 0 25 14 0 6 41
Mucolipidosis type II; Pseudo-Hurler polydystrophy 1199 54 0 35 3 0 3 41
Nephronophthisis 8 64 20 0 16 28 0 1 41
PLXNA3-related disorder 430 136 0 9 32 0 1 41
AHDC1-related disorder 22 32 0 35 7 0 0 40
ASPM-related disorder 6 21 0 30 17 0 0 40
Autosomal recessive Alport syndrome 700 43 0 30 0 0 13 40
Bardet-Biedl syndrome 12 249 89 0 24 8 0 9 40
CACNA1H-related disorder 59 41 0 30 14 0 0 40
COG5-congenital disorder of glycosylation 758 34 0 13 29 0 0 40
COL4A5-related disorder 33 25 0 35 8 0 1 40
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1087 47 0 26 5 0 10 40
Exostoses, multiple, type 2 730 101 0 22 16 0 3 40
Familial dysautonomia 905 79 0 18 23 0 0 40
Familial hemophagocytic lymphohistiocytosis 2 572 48 0 17 22 0 3 40
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 10 181 0 24 16 0 0 40
LRP5-related disorder 13 73 0 19 23 0 4 40
Majeed syndrome 719 91 0 18 25 0 1 40
Melanoma, cutaneous malignant, susceptibility to, 5 447 37 0 23 17 0 1 40
Neuronal ceroid lipofuscinosis 3 184 53 0 25 7 0 8 40
Osteogenesis imperfecta type 8 710 102 0 32 7 0 1 40
Pitt-Hopkins-like syndrome 2 1914 40 0 9 31 0 0 40
TRIOBP-related disorder 15 19 0 27 14 0 0 40
desflurane response - Toxicity 0 0 0 0 0 40 0 40
enflurane response - Toxicity 0 0 0 0 0 40 0 40
halothane response - Toxicity 0 0 0 0 0 40 0 40
isoflurane response - Toxicity 0 0 0 0 0 40 0 40
methoxyflurane response - Toxicity 0 0 0 0 0 40 0 40
sevoflurane response - Toxicity 0 0 0 0 0 40 0 40
succinylcholine response - Toxicity 0 0 0 0 0 40 0 40
A2ML1-related disorder 11 34 0 25 22 0 0 39
Achondrogenesis, type IA 594 62 0 9 30 0 0 39
Arginase deficiency 467 39 0 27 6 0 9 39
DNAH9-related disorder 34 119 0 31 7 0 1 39
Developmental and epileptic encephalopathy, 12 1872 37 0 8 32 0 0 39
Dilated cardiomyopathy 1O 1599 22 0 7 32 0 1 39
Giant axonal neuropathy 1 643 64 0 11 16 0 17 39
Hyperprolinemia type 2 260 22 0 13 23 0 4 39
Hypokalemic periodic paralysis, type 1 352 97 0 36 2 0 1 39
KAT6A-related disorder 17 9 0 33 8 0 0 39
KMT2C-related disorder 52 45 0 34 7 0 1 39
Leber congenital amaurosis 13 485 47 0 34 0 0 6 39
Neuronal ceroid lipofuscinosis 2 300 46 0 25 4 0 10 39
Neuronal ceroid lipofuscinosis 5 143 50 0 31 8 0 5 39
Nijmegen breakage syndrome-like disorder 321 63 0 28 11 0 0 39
Polycystic kidney disease 2 581 97 0 27 6 0 6 39
Primary familial hypertrophic cardiomyopathy 912 51 0 26 8 0 9 39
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 450 87 0 11 26 0 3 39
RTTN-related disorder 19 24 0 29 13 0 1 39
Rubinstein-Taybi syndrome 1553 38 0 10 26 0 4 39
ALG12-congenital disorder of glycosylation 452 30 0 15 22 0 1 38
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 34 65 1 18 8 0 18 38
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 63 104 2 24 12 0 2 38
COL4A2-related disorder 37 40 0 23 12 0 4 38
Developmental and epileptic encephalopathy 94 1879 79 0 12 16 0 12 38
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 6 45 0 16 6 15 13 38
Dystonia 12 989 53 0 24 14 0 1 38
Eichsfeld type congenital muscular dystrophy 487 64 0 26 4 0 8 38
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2897 36 0 18 17 0 3 38
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 38 122 0 15 20 0 3 38
GAA-related disorder 13 36 0 15 20 0 7 38
Leber congenital amaurosis 4 457 24 0 13 23 0 3 38
Megalencephalic leukoencephalopathy with subcortical cysts 1 204 45 0 29 7 0 6 38
Merosin deficient congenital muscular dystrophy 404 52 0 30 1 0 7 38
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 284 84 0 31 3 0 5 38
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 720 44 0 13 19 0 7 38
Usher syndrome type 1F 796 62 0 26 2 0 11 38
Bernard Soulier syndrome 158 12 0 16 11 0 10 37
Biotin-responsive basal ganglia disease 559 32 0 18 14 0 6 37
Cataract 1 multiple types 147 13 0 18 1 0 23 37
Early onset severe obesity 58 30 0 17 13 1 11 37
FANCA-related disorder 102 63 0 16 23 0 2 37
Global developmental delay 166 31 0 27 8 1 9 37
Glycine encephalopathy 1 201 21 0 24 1 0 13 37
Joubert syndrome 1 91 38 0 7 21 0 9 37
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 497 49 0 5 31 0 1 37
Mitochondrial disease 577 39 0 13 1 0 23 37
OCA2-related disorder 8 26 0 26 7 0 14 37
Pheochromocytoma/paraganglioma syndrome 5 657 63 0 23 12 0 3 37
Short stature 111 14 0 3 7 0 27 37
ABCC8-related disorder 28 42 0 14 22 0 4 36
Acyl-CoA dehydrogenase 9 deficiency 242 38 0 23 9 0 5 36
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 51 67 0 15 20 2 0 36
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 217 97 0 31 0 0 5 36
DOCK6-related disorder 22 43 0 25 12 0 0 36
Deficiency of ferroxidase 457 55 0 15 18 0 6 36
Deficiency of guanidinoacetate methyltransferase 163 70 0 22 13 0 4 36
Dilated cardiomyopathy 1JJ 1243 162 0 26 8 0 2 36
Fanconi anemia complementation group G 269 89 0 23 11 0 4 36
Generalized epilepsy-paroxysmal dyskinesia syndrome 1102 21 0 9 27 0 0 36
HIVEP2-related disorder 20 31 0 31 5 0 0 36
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 3052 289 0 10 24 0 2 36
Hereditary spastic paraplegia 3A 465 37 0 12 5 0 21 36
Histiocytic medullary reticulosis 448 21 0 15 13 0 10 36
Immunodeficiency 35 845 67 0 7 28 0 2 36
LOXHD1-related disorder 4 27 0 18 20 0 1 36
MTOR-related disorder 21 40 0 28 7 0 1 36
Myopathy, centronuclear, 2 615 46 0 9 26 0 2 36
Neutral lipid storage myopathy 512 74 0 9 27 0 0 36
Primary ciliary dyskinesia 7 479 57 0 16 7 0 14 36
SMPD1-related disorder 38 23 0 10 24 0 3 36
Tramadol response 1574 0 0 0 0 36 0 36
AUTS2-related disorder 29 19 0 27 11 0 3 35
Abnormality of the musculature 97 39 0 29 0 0 11 35
Autosomal recessive inherited pseudoxanthoma elasticum 362 46 0 26 1 0 8 35
Beta-D-mannosidosis 638 43 0 17 14 0 4 35
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 41 82 0 22 9 0 5 35
Brody myopathy 680 98 0 9 21 0 5 35
CHEK2-related disorder 25 46 0 11 17 0 11 35
Charcot-Marie-Tooth disease axonal type 2P 748 57 0 14 18 0 3 35
Combined immunodeficiency due to LRBA deficiency 2018 97 0 18 15 0 3 35
Congenital myasthenic syndrome 4A 1135 61 0 27 1 0 8 35
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 50 61 0 12 22 0 4 35
Dilated cardiomyopathy 1W 1285 30 0 7 26 0 2 35
EHHADH-related disorder 33 20 0 5 32 0 0 35
FREM2-related disorder 35 59 0 18 23 0 0 35
Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis 15 51 1 17 18 0 0 35
GNPTG-mucolipidosis 221 33 0 15 16 0 5 35
Left ventricular noncompaction cardiomyopathy 27 30 0 12 14 0 12 35
MYH9-related disorder 310 31 0 28 9 0 0 35
OTOGL-related disorder 11 23 0 22 18 0 1 35
SETBP1-related disorder 29 37 0 23 12 0 1 35
ALPL-related disorder 6 28 0 24 6 0 8 34
ANO5-Related Muscle Diseases 67 34 0 21 13 0 3 34
Bifunctional peroxisomal enzyme deficiency 298 44 0 25 4 0 7 34
CRB2-related disorder 25 32 0 18 18 0 0 34
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 9 19 0 13 21 0 0 34
Congenital Muscular Dystrophy, alpha-dystroglycan related 164 29 0 14 20 0 0 34
Developmental and epileptic encephalopathy, 5 295 26 0 22 10 0 2 34
Fanconi anemia complementation group I 527 79 0 25 7 0 2 34
ITPR1-related disorder 13 32 0 28 10 0 0 34
Inherited MMR deficiency (Lynch syndrome) 22 64 0 20 6 0 12 34
Leber congenital amaurosis 8 337 58 0 27 5 0 2 34
MC4R-related disorder 71 26 0 16 5 1 17 34
MYH11-related disorder 25 34 0 18 19 0 1 34
MYH14-related disorder 27 21 0 21 15 0 2 34
MYLK-related disorder 21 32 0 21 13 0 1 34
Malaria, susceptibility to 16 13 0 16 1 22 5 34
Osteogenesis imperfecta type I 2655 129 0 21 10 0 4 34
Papillary renal cell carcinoma type 1 4977 249 0 24 11 0 0 34
RPGRIP1L-related disorder 233 80 0 11 22 0 2 34
SCN1A-related disorder 44 40 0 25 13 0 3 34
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 15 60 0 31 0 2 2 34
SON-related disorder 28 44 0 23 11 0 0 34
Walker-Warburg congenital muscular dystrophy 1570 103 0 17 12 0 5 34
carboxymethyl-dextran-A2-gadolinium-DOTA 0 77 0 18 21 0 0 34
Abnormal brain morphology 57 5 0 8 1 0 26 33
Agenesis of the corpus callosum with peripheral neuropathy 391 42 0 18 17 0 0 33
Angelman syndrome 710 65 0 9 19 0 7 33
COG7 congenital disorder of glycosylation 451 28 0 7 24 0 2 33
Cardiac arrhythmia 3213 780 0 5 21 0 7 33
DNHD1-related disorder 58 45 0 24 9 0 2 33
Encephalopathy, acute, infection-induced, susceptibility to, 4 48 102 0 24 2 0 8 33
Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 429 94 0 14 13 0 9 33
FANCM-related disorder 30 50 0 13 22 0 1 33
Gamma-aminobutyric acid transaminase deficiency 705 31 0 9 19 0 5 33
HUWE1-related disorder 40 21 0 30 8 0 0 33
Hereditary leiomyomatosis and renal cell cancer 490 56 0 20 9 0 5 33
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 316 38 1 18 11 0 6 33
KIDINS220-related disorder 186 208 0 11 22 0 0 33
LAMC3-related disorder 3 25 0 17 20 0 0 33
Leber congenital amaurosis 1683 68 0 30 1 0 2 33
MYH3-related disorder 38 37 0 25 9 0 6 33
Metaphyseal chondrodysplasia, McKusick type 290 62 0 24 0 0 10 33
Methylcobalamin deficiency type cblE 774 67 0 20 13 0 0 33
NBAS-related disorder 14 43 0 20 14 0 1 33
NEBL-related disorder 7 14 0 29 8 0 0 33
PLXNA1-related disorder 421 196 0 18 15 0 0 33
RNF213-related disorder 26 32 0 30 5 0 0 33
Shprintzen-Goldberg syndrome 842 60 0 11 20 0 2 33
Sitosterolemia 1 207 52 0 11 20 0 4 33
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 48 28 0 23 1 0 15 33
Acyl-CoA oxidase deficiency 758 43 0 9 21 0 3 32
Autosomal recessive early-onset Parkinson disease 6 286 40 0 9 22 0 1 32
Autosomal recessive hypophosphatemic bone disease 268 25 0 19 2 0 16 32
Diamond-Blackfan anemia 967 83 0 23 6 0 4 32
FBN2-related disorder 65 46 0 18 15 0 1 32
Glanzmann thrombasthenia 1 23 36 0 20 1 0 11 32
Hermansky-Pudlak syndrome 2 765 44 0 11 22 0 1 32
Herpes simplex encephalitis, susceptibility to, 1 801 121 1 18 7 0 7 32
Inflammatory bowel disease 28 381 37 0 13 19 0 1 32
Isolated Coronal Synostosis 43 18 0 16 16 0 0 32
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 337 35 0 26 3 0 5 32
Niemann-Pick disease, type B; Niemann-Pick disease, type A 770 50 0 20 5 0 8 32
OTOF-related disorder 2 31 0 18 17 0 2 32
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 1146 32 0 3 28 0 1 32
Atrial fibrillation, familial, 7 442 51 0 9 20 0 3 31
Blau syndrome; Regional enteritis 923 68 0 2 25 4 0 31
CHD8-related disorder 17 21 0 24 10 0 1 31
CUBN-related disorder 96 32 0 18 11 0 4 31
Charcot-Marie-Tooth disease axonal type 2C 950 70 0 14 13 0 4 31
Congenital glucose-galactose malabsorption 396 63 0 6 22 0 3 31
Congenital myasthenic syndrome 5 428 65 0 20 8 0 3 31
DCHS1-related disorder 14 61 0 19 13 0 0 31
DHCR7-related disorder 27 25 0 12 17 0 4 31
Epidermolysis bullosa dystrophica 783 74 0 12 18 0 2 31
Epilepsy with myoclonic atonic seizures 761 24 0 14 12 0 6 31
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 17 29 0 14 15 0 2 31
Fanconi anemia complementation group D2 478 90 0 24 4 0 5 31
Gaucher disease due to saposin C deficiency 5 39 0 5 26 0 0 31
HNF1A-related disorder 20 20 0 18 10 0 6 31
Immunodeficiency 51 806 42 0 1 30 0 0 31
Isolated thoracic aortic aneurysm 59 9 0 16 6 0 10 31
Krabbe disease due to saposin A deficiency 12 37 0 5 26 0 0 31
L1CAM-related disorder 19 9 0 26 8 0 1 31
MKS1-related disorder 134 66 0 7 21 0 5 31
Mucopolysaccharidosis, MPS-III-C 314 30 0 18 5 0 9 31
PTEN-related disorder 45 37 0 13 18 0 2 31
PTPN11-related disorder 3 43 0 19 7 0 7 31
Pheochromocytoma 453 42 2 14 10 0 6 31
Sjögren-Larsson syndrome 214 25 0 27 3 0 1 31
Sulfite oxidase deficiency 433 20 0 16 10 0 7 31
Supravalvar aortic stenosis 1006 41 0 14 16 0 1 31
Achromatopsia 3 239 31 0 24 2 0 6 30
Amyotrophic lateral sclerosis type 1 223 37 0 24 2 0 5 30
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 30 16 0 20 3 1 15 30
Congenital myasthenic syndrome 8 2105 94 0 9 17 0 5 30
D-2-hydroxyglutaric aciduria 1 292 32 0 7 20 0 4 30
DICER1-related disorder 51 59 0 16 17 0 0 30
Developmental and epileptic encephalopathy, 26 659 19 0 12 11 0 10 30
Familial cancer of breast; Fanconi anemia complementation group J 4313 89 0 15 11 0 5 30
Fanconi anemia complementation group P 650 128 0 14 17 0 0 30
Fibrous dysplasia of jaw 716 37 0 15 15 0 1 30
Hypercholesterolemia 5 17 0 11 12 1 11 30
KCNT1-related disorder 17 25 0 25 12 0 0 30
KMT2B-related disorder 25 23 0 21 9 0 0 30
LDLR-related disorder 22 37 0 25 6 0 7 30
Lethal congenital contractural syndrome Finnish type 57 20 0 25 6 0 0 30
Lynch-like syndrome 54 56 0 13 7 0 11 30
MPDZ-related disorder 10 42 0 21 10 0 1 30
MSH3-related disorder 4 76 0 15 20 0 0 30
Megalencephalic leukoencephalopathy with subcortical cysts 138 33 0 25 6 0 2 30
Monogenic diabetes 1488 40 0 19 6 0 7 30
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 1093 66 0 21 5 0 5 30
Multiple gastrointestinal atresias 943 18 0 13 11 0 7 30
Predisposition to invasive fungal disease due to CARD9 deficiency 508 35 3 11 16 0 2 30
Renal cysts and diabetes syndrome 310 34 0 16 5 0 10 30
SPTAN1-related disorder 38 21 0 26 10 0 1 30
Severe myoclonic epilepsy in infancy 1105 103 0 21 4 0 6 30
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 261 33 0 22 3 0 4 29
ANK3-related disorder 22 35 0 22 9 0 0 29
ATP7B-related disorder 24 32 0 15 8 0 8 29
ATP8B1-related disorder 48 47 0 11 25 0 0 29
Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 395 30 0 6 23 0 0 29
CPLANE1-related disorder 13 33 0 15 14 0 4 29
CYP27A1-related disorder 11 39 0 12 16 0 5 29
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 80 100 0 28 0 0 1 29
DST-related disorder 61 29 0 15 16 0 0 29
Dilated cardiomyopathy 1G 2635 53 0 26 3 0 0 29
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 66 69 0 12 17 0 2 29
FAT2-related disorder 9 58 0 18 14 0 0 29
Gastrointestinal defects and immunodeficiency syndrome 1 23 16 0 13 11 0 6 29
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 314 47 0 0 29 0 0 29
Glycogen storage disease IXc 302 13 0 12 16 0 4 29
Hypercholesterolemia, familial, 4 392 87 0 12 19 0 2 29
Hyperphosphatasia with intellectual disability syndrome 2 856 42 0 12 16 0 1 29
Intellectual disability, X-linked 1 1030 51 0 15 17 0 1 29
LONP1-related disorder 8 24 0 21 8 0 2 29
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 21 35 0 25 1 0 6 29
Nemaline myopathy 6 606 40 0 11 16 0 3 29
Orthostatic hypotension 1 364 51 0 8 19 0 2 29
PRDM16-related disorder 11 18 0 24 7 0 0 29
Peroxisome biogenesis disorder 3A (Zellweger) 437 17 0 22 5 0 2 29
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 607 56 0 17 14 0 0 29
RECQL4-related disorder 81 50 0 14 16 0 1 29
SOS1-related disorder 12 23 0 18 16 0 1 29
SPTB-related disorder 36 22 0 23 13 0 1 29
TRRAP-related disorder 34 58 0 24 9 0 0 29
UDPglucose-4-epimerase deficiency 321 13 0 13 14 0 5 29
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 252 23 0 21 3 0 5 28
ABCC6-related disorder 16 47 0 14 9 0 7 28
ABCG5-related disorder 21 18 0 8 23 0 0 28
AKAP9-related disorder 7 31 0 19 11 0 0 28
ASXL1-related disorder 17 17 0 23 4 0 1 28
Achromatopsia 2 171 30 0 22 1 0 6 28
Adenylosuccinate lyase deficiency 768 43 0 9 12 0 8 28
Amyloidosis, hereditary systemic 1 312 43 0 21 4 0 5 28
CACNA1E-related disorder 8 21 0 25 3 0 1 28
CCDC88C-related disorder 10 29 0 17 14 0 0 28
CFHR5 deficiency 5 19 0 21 8 0 2 28
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 41 89 0 18 6 0 4 28
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 944 239 0 8 19 0 1 28
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 324 36 0 19 2 0 8 28
Combined oxidative phosphorylation defect type 14 456 25 0 17 3 0 8 28
Cone-rod dystrophy 13; Leber congenital amaurosis 6 871 24 0 21 6 0 1 28
DYNC2H1-related disorder 62 27 0 8 19 0 4 28
Deficiency of hyaluronoglucosaminidase 352 21 0 14 13 0 1 28
Deficiency of malonyl-CoA decarboxylase 563 29 0 12 16 0 0 28
Deficiency of steroid 11-beta-monooxygenase 223 23 0 21 2 0 6 28
Ethylmalonic encephalopathy 352 49 0 15 11 0 3 28
FLCN-related disorder 44 47 0 15 18 0 0 28
Glycogen storage disease, type VI 224 41 0 10 15 0 5 28
Hereditary factor IX deficiency disease 293 29 0 18 5 0 7 28
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1300 102 0 14 13 0 1 28
Immunodeficiency 14 885 40 0 13 14 0 3 28
KIF1A-related disorder 54 33 0 16 17 0 1 28
LAMA1-related disorder 12 26 0 19 14 0 0 28
Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paraganglioma syndrome 5 2446 106 0 19 8 0 2 28
PEX1-related disorder 65 22 0 11 20 0 1 28
Palmoplantar keratoderma-esophageal carcinoma syndrome 223 8 0 21 7 0 0 28
Sitosterolemia 361 30 0 11 17 0 2 28
Transcobalamin II deficiency 633 38 0 14 17 0 0 28
VPS13D-related disorder 8 43 0 24 4 0 0 28
VWF-related disorder 30 54 0 10 15 0 8 28
3-Methylglutaconic aciduria type 2 458 22 0 15 2 0 11 27
Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 30 27 0 20 10 0 0 27
Coffin-Siris syndrome 1 454 62 0 21 3 0 3 27
Combined deficiency of sialidase AND beta galactosidase 461 36 0 19 6 0 2 27
Developmental and epileptic encephalopathy, 9 1195 57 0 18 4 0 6 27
Dihydropyrimidine dehydrogenase deficiency 208 52 0 18 5 0 6 27
Fucosidosis 368 29 0 15 10 0 3 27
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 516 52 0 17 7 0 5 27
Neonatal insulin-dependent diabetes mellitus 9 6 1 13 11 0 3 27
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 25 69 0 19 6 0 3 27
PKD1L1-related disorder 156 104 0 16 11 0 0 27
PLXNA2-related disorder 274 263 0 16 11 0 0 27
Pontocerebellar hypoplasia type 1A 442 46 0 16 9 0 4 27
SZT2-related disorder 8 43 0 16 12 0 0 27
ivacaftor response - Efficacy 5 0 0 0 0 27 0 27
ADNP-related disorder 13 12 0 20 6 0 1 26
Age related macular degeneration 1 288 165 0 25 1 0 0 26
Amelocerebrohypohidrotic syndrome 552 24 0 13 13 0 1 26
Athabaskan severe combined immunodeficiency 65 80 0 9 12 0 5 26
COL5A2-related disorder 21 17 0 14 13 0 0 26
Congenital myasthenic syndrome 627 49 0 14 12 0 0 26
Early Myoclonic Encephalopathy 1897 8 0 4 22 0 0 26
Early-infantile DEE 13943 8 0 4 22 0 0 26
Familial X-linked hypophosphatemic vitamin D refractory rickets 423 31 0 21 3 0 3 26
GLI2-related disorder 114 29 0 15 12 0 0 26
Glycogen storage disorder due to hepatic glycogen synthase deficiency 181 25 0 16 10 0 1 26
LAMA4-related disorder 6 25 0 13 17 0 0 26
Leigh syndrome 3323 67 0 14 8 0 4 26
MLH3-related disorder 8 65 0 10 19 0 1 26
Mitochondrial DNA depletion syndrome 1 153 25 0 22 1 0 4 26
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1116 44 0 21 2 0 5 26
Multiple congenital exostosis 937 53 0 13 13 0 1 26
NEFH-related disorder 17 63 0 13 14 0 0 26
Neural tube defect 160 25 0 19 5 1 1 26
Neurodevelopmental abnormality 134 30 0 9 11 0 10 26
OPA1-related disorder 16 24 0 16 15 0 2 26
Oculocutaneous albinism type 1A 79 35 0 23 3 0 4 26
Pontocerebellar hypoplasia type 1B 210 12 0 14 11 0 2 26
SDHA-related disorder 31 38 0 20 4 0 3 26
SLC26A4-related disorder 3 22 0 19 5 0 8 26
SLC34A3-related disorder 24 21 0 18 11 0 2 26
SMARCA2-related disorder 22 18 0 22 3 0 1 26
SPEG-related disorder 9 50 0 21 9 0 0 26
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 239 21 0 23 2 0 2 26
Sphingolipid activator protein 1 deficiency 760 24 0 9 17 0 0 26
Thrombocytopenia 2 192 48 0 18 9 0 2 26
Usher syndrome 503 30 0 20 0 0 6 26
Vici syndrome 2191 63 0 14 8 0 5 26
Wolfram syndrome 1 522 24 2 19 3 0 2 26
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 208 19 0 17 3 0 14 25
Autoimmune lymphoproliferative syndrome type 1 591 30 0 11 13 0 3 25
Autosomal recessive nonsyndromic hearing loss 12 548 43 0 15 4 0 6 25
Congenital muscular dystrophy due to integrin alpha-7 deficiency 822 107 0 16 9 0 0 25
Congenital muscular hypertrophy-cerebral syndrome 806 23 0 9 10 0 7 25
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 529 57 0 5 13 0 7 25
DNA ligase IV deficiency 668 40 0 5 19 0 1 25
DNMT3A-related disorder 182 30 0 13 11 0 3 25
Desmin-related myofibrillar myopathy 1028 40 0 16 5 0 4 25
EHMT1-related disorder 34 19 0 14 14 0 1 25
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8 509 15 0 8 13 0 5 25
Epilepsy, idiopathic generalized, susceptibility to, 13 74 7 0 2 23 0 0 25
FOCAD-related disorder 42 78 0 12 12 0 1 25
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 36 63 0 15 12 0 0 25
Focal segmental glomerulosclerosis 3, susceptibility to 131 51 0 20 4 0 2 25
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 543 25 0 9 15 0 4 25
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 237 61 0 17 8 0 0 25
Hereditary spastic paraplegia 15 410 45 0 20 3 0 2 25
Hypohidrotic X-linked ectodermal dysplasia 491 48 0 12 9 0 7 25
IFT172-related disorder 400 64 0 7 17 0 1 25
Ichthyosis vulgaris 169 19 0 24 0 0 3 25
Joubert syndrome 8 291 34 0 13 11 0 1 25
Luscan-Lumish syndrome 778 49 0 10 15 0 1 25
Mucolipidosis type II 389 55 0 15 9 0 1 25
NBN-related disorder 13 25 1 12 15 0 1 25
NRXN1-related disorder 23 13 0 16 13 0 2 25
Neuronal ceroid lipofuscinosis 7 820 35 0 14 6 0 8 25
Noonan syndrome 1 209 52 0 22 0 0 4 25
RTEL1-related disorder 75 33 0 10 14 0 1 25
Renal tubular acidosis with progressive nerve deafness 226 63 0 16 6 0 4 25
Retinitis pigmentosa 26 207 47 0 21 0 0 4 25
SCN2A-related disorder 50 26 0 20 9 0 2 25
SPTBN2-related disorder 5 10 0 22 5 0 0 25
SRCAP-related disorder 26 34 0 16 10 0 0 25
TRIO-related disorder 79 46 0 21 5 0 2 25
Thyroid dyshormonogenesis 6 304 39 0 19 1 0 6 25
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 538 43 0 9 16 0 0 25
Actin accumulation myopathy 440 17 0 11 7 0 6 24
Aganglionic megacolon 50 5 0 9 8 0 10 24
BARD1-related disorder 17 47 0 16 12 0 0 24
CEP152-related disorder 6 19 0 22 4 0 0 24
CNTNAP2-related disorder 12 15 0 17 15 0 0 24
COG1 congenital disorder of glycosylation 353 29 0 6 18 0 0 24
COL6A1-related disorder 21 10 0 11 13 0 2 24
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 169 33 0 6 18 0 0 24
Congenital myotonia, autosomal recessive form 131 20 0 20 0 1 5 24
Cornelia de Lange syndrome 3 420 21 0 8 15 0 3 24
DNAH1-related disorder 73 32 0 13 12 0 0 24
DUOX2-related disorder 9 22 0 14 5 0 5 24
Developmental and epileptic encephalopathy, 54 914 23 0 12 12 0 3 24
EYS-related disorder 6 36 0 17 13 0 1 24
Familial adenomatous polyposis 3 212 53 0 22 2 0 0 24
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 362 61 0 0 24 0 0 24
Fructose-biphosphatase deficiency 252 17 0 10 12 0 3 24
Glutaric acidemia type 2C 115 25 0 12 2 0 11 24
HMCN1-related disorder 9 52 0 12 12 0 0 24
Hemochromatosis type 4 234 18 0 11 9 0 4 24
Hereditary xanthinuria type 1 377 53 0 21 2 0 1 24
Hypoplasia of the iris 0 37 0 11 12 0 1 24
Imerslund-Grasbeck syndrome type 1 254 103 0 9 13 0 2 24
Joubert syndrome 3 415 40 0 20 2 0 6 24
Juvenile retinoschisis 158 26 0 14 1 0 10 24
KIF1B-related disorder 30 39 0 12 14 0 0 24
Long QT syndrome 2 291 23 0 16 3 0 8 24
MAGEL2-related disorder 103 140 0 3 21 0 0 24
MYO5B-related disorder 37 108 0 16 8 0 0 24
Maturity-onset diabetes of the young type 2 308 35 0 21 0 0 4 24
Megaconial type congenital muscular dystrophy 343 19 0 2 18 0 4 24
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 803 17 0 18 4 0 2 24
NLRP3-related disorder 14 9 0 15 11 0 0 24
Nephronophthisis 16 346 70 0 17 8 0 1 24
Nephropathic cystinosis 241 31 0 19 0 0 5 24
Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 428 6 1 15 7 0 2 24
PITX2-Related Eye Abnormalities 0 37 0 13 12 0 1 24
Peroxisome biogenesis disorder 5A (Zellweger) 411 16 0 19 7 0 0 24
SERPINA1-related disorder 45 4 0 3 17 9 3 24
SOS2-related disorder 31 31 0 20 4 0 1 24
TRIM32-related disorder 82 60 0 3 20 0 1 24
Tumor predisposition syndrome 3 1832 49 0 10 7 0 10 24
AGRN-related disorder 31 16 0 14 12 0 0 23
ALS2-related disorder 67 28 0 9 16 0 0 23
BLM-related disorder 26 24 0 11 15 0 0 23
BRAT1-related disorder 22 7 0 15 8 0 0 23
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency 674 56 0 16 5 0 6 23
COL4A6-related disorder 16 19 0 8 16 0 1 23
Cataract 14 multiple types 181 14 0 15 1 0 7 23
Cataract 18 239 49 0 8 13 0 2 23
Charcot-Marie-Tooth disease X-linked dominant 1 205 22 0 12 0 0 12 23
Cutis laxa, autosomal recessive, type 1B 374 34 0 12 11 0 2 23
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 18 23 0 15 7 0 1 23
DNAH7-related disorder 42 16 0 17 8 0 0 23
Deficiency of 2-methylbutyryl-CoA dehydrogenase 261 22 0 11 11 0 3 23
ENG-related disorder 14 23 0 15 6 0 5 23
FUS-related disorder 35 24 0 12 11 0 0 23
Hereditary von Willebrand disease 180 31 0 14 3 0 7 23
ITGB4-related disorder 24 57 0 14 10 0 0 23
LEPR-related disorder 202 27 0 6 15 0 3 23
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 137 21 0 12 1 0 10 23
Loeys-Dietz syndrome 4 531 52 0 14 9 0 2 23
Methylmalonic aciduria and homocystinuria type cblD 297 36 0 14 8 0 2 23
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 508 58 0 10 12 0 1 23
Mucopolysaccharidosis, MPS-III-D 707 25 0 11 12 0 0 23
Nonsyndromic genetic hearing loss 268 24 0 16 1 0 6 23
Osteogenesis Imperfecta, Recessive 18 9 0 1 22 0 0 23
Osteogenesis imperfecta type 7 584 38 0 11 12 0 1 23
PCLO-related disorder 12 56 0 17 6 0 0 23
Peroxisome biogenesis disorder 9B 538 36 0 11 11 0 2 23
Primary Mitochondrial Disorders 30 8 0 18 0 2 4 23
RFT1-congenital disorder of glycosylation 474 27 0 5 17 0 1 23
SAMD9-related disorder 21 67 0 10 13 0 2 23
SH3TC2-related disorder 2 10 0 13 13 0 3 23
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 4 18 0 17 8 0 3 23
TAF15-related disorder 33 27 0 16 8 0 0 23
TCOF1-related disorder 53 18 0 18 7 0 0 23
TECTA-related disorder 21 22 0 12 13 0 3 23
TNF receptor-associated periodic fever syndrome (TRAPS) 455 45 0 9 15 0 2 23
TSPEAR-related disorder 5 14 0 17 7 0 5 23
3 beta-Hydroxysteroid dehydrogenase deficiency 126 23 0 8 13 0 1 22
ABCD1-related disorder 26 29 0 7 5 0 10 22
Abetalipoproteinaemia 280 41 0 13 8 0 2 22
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 572 12 0 21 1 0 0 22
Aicardi-Goutieres syndrome 4 463 30 0 6 10 0 6 22
Alagille syndrome due to a JAG1 point mutation 1425 86 0 7 12 0 5 22
Alzheimer disease 408 14 0 7 14 0 1 22
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 266 16 0 14 6 0 2 22
Autosomal recessive congenital ichthyosis 2 190 15 0 12 0 0 10 22
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 359 62 0 13 5 0 4 22
Autosomal recessive limb-girdle muscular dystrophy 613 73 0 19 0 0 3 22
BETA-PLUS-THALASSEMIA 4 18 0 13 0 6 4 22
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 13 20 0 7 16 0 0 22
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 891 44 0 7 14 0 1 22
CASR-related disorder 16 40 0 10 9 0 5 22
COL17A1-related disorder 8 19 0 17 4 0 1 22
COL9A2-related disorder 7 14 0 9 15 0 0 22
Congenital lipoid adrenal hyperplasia due to STAR deficency 164 27 0 15 5 0 3 22
DK1-congenital disorder of glycosylation 361 44 0 4 18 0 0 22
Gaucher disease 365 77 0 17 2 0 3 22
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 560 30 0 7 15 0 1 22
Hepatic methionine adenosyltransferase deficiency 316 26 0 7 10 0 6 22
Intellectual disability, autosomal dominant 1 1386 36 0 4 19 0 0 22
Isolated microphthalmia 5 599 22 0 5 16 0 1 22
KCNH2-related disorder 6 14 0 15 4 0 3 22
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 10 12 0 13 9 0 4 22
Mitochondrial trifunctional protein deficiency 523 31 0 14 3 0 5 22
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 951 78 0 15 4 0 3 22
Muscular dystrophy-dystroglycanopathy type B6 830 23 0 7 15 0 0 22
Pyruvate dehydrogenase complex deficiency 107 16 0 16 5 0 2 22
Renal tubulopathies 19 17 0 16 0 0 6 22
Rhabdoid tumor predisposition syndrome 2 5006 213 0 10 12 0 0 22
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 210 55 0 10 12 0 0 22
SEPN1-related disorder 58 20 0 10 13 0 0 22
Stuve-Wiedemann syndrome 335 39 0 12 10 0 1 22
TNC-related disorder 33 17 0 10 12 0 0 22
UGT1A1-related disorder 28 43 0 12 7 8 9 22
VCAN-related disorder 15 56 0 15 8 0 0 22
ZFHX3-related disorder 87 34 0 17 6 0 0 22
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 205 26 0 12 6 0 3 21
ABCA12-related disorder 13 20 0 19 6 0 0 21
ACE-related disorder 18 27 0 16 5 0 3 21
ADAMTSL4-related disorder 6 23 0 16 6 0 0 21
ADCY3-related disorder 312 39 0 11 8 0 2 21
ALG3-congenital disorder of glycosylation 147 18 0 6 14 0 1 21
ALK-related disorder 33 37 0 9 14 0 0 21
Atypical hemolytic-uremic syndrome 803 25 2 11 4 0 4 21
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 233 17 0 9 8 0 5 21
Autosomal recessive limb-girdle muscular dystrophy type R18 788 69 0 12 5 0 5 21
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 31 27 0 12 1 0 9 21
CACNA1D-related disorder 11 38 0 12 9 0 0 21
CNGB1-related disorder 2 12 0 14 9 0 1 21
COL9A3-related disorder 1 42 0 12 10 0 0 21
Central core myopathy 454 26 3 13 1 0 5 21
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 13 33 0 15 1 0 6 21
Congenital amegakaryocytic thrombocytopenia 208 22 0 14 4 0 5 21
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 544 86 0 7 14 0 3 21
DDX41-related disorder 23 27 0 10 7 0 5 21
DYRK1A-related intellectual disability syndrome 825 35 0 9 9 0 3 21
Danon disease 588 42 0 12 7 0 3 21
Developmental cataract 65 5 0 10 6 0 7 21
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 1308 90 0 4 16 0 1 21
Epilepsy, familial focal, with variable foci 1 133 129 0 7 10 0 4 21
FASN-related disorder 14 47 0 17 6 0 0 21
FREM1-related disorder 33 40 0 11 10 0 0 21
Familial focal epilepsy with variable foci 1997 119 0 7 10 0 4 21
Fanconi anemia complementation group O 1622 44 0 13 8 0 2 21
Fumarase deficiency 278 48 0 12 3 0 9 21
GCK-related disorder 18 17 0 14 2 0 5 21
H syndrome 453 45 0 8 9 0 4 21
HCN4-related disorder 7 18 0 14 11 0 2 21
HERC1-related disorder 11 24 0 15 6 0 0 21
HNF1B-related disorder 35 27 0 4 18 0 1 21
HSD17B4-related disorder 34 19 0 8 12 0 4 21
Hematuria 33 16 0 17 1 0 9 21
Hemochromatosis type 3 250 56 0 8 12 0 1 21
Hereditary acrodermatitis enteropathica 233 26 0 10 11 0 1 21
Hyperlipoproteinemia, type I 205 27 0 10 9 1 1 21
Imerslund-Grasbeck syndrome 1886 13 0 14 4 0 3 21
KIF5A-related disorder 18 31 0 11 13 0 0 21
Kostmann syndrome 358 52 0 8 12 0 1 21
LMNA-related disorder 16 27 0 13 9 0 4 21
MED12-Related Disorders 46 24 0 14 9 0 1 21
MET-related disorder 34 45 0 5 20 0 0 21
MUTYH-related disorder 14 36 0 10 11 0 3 21
MYO18B-related disorder 10 67 0 15 6 0 0 21
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 2 0 13 0 17 3 21
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 731 32 0 13 4 0 6 21
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Neurodegeneration with ataxia and late-onset optic atrophy 6 88 0 17 4 0 1 21
Multiple endocrine neoplasia type 4 754 88 0 13 7 0 2 21
NPHP3-related disorder 71 25 0 6 14 0 1 21
NRAP-related disorder 26 34 0 16 5 0 0 21
NTRK2-related disorder 53 118 0 12 9 0 1 21
Noonan syndrome 607 56 0 10 5 0 6 21
Odonto-onycho-dermal dysplasia; Schöpf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 6 5 1 15 5 0 1 21
PKP2-related disorder 2 18 0 14 9 0 2 21
Parkinsonian-pyramidal syndrome 315 20 0 13 9 0 0 21
Progressive myoclonic epilepsy type 3 380 20 0 6 7 1 11 21
RYR3-related disorder 13 35 0 18 4 0 0 21
SAMD9L-related disorder 16 54 0 14 6 0 3 21
SBF1-related disorder 6 30 0 15 8 0 3 21
SCN10A-related disorder 9 28 0 12 10 0 0 21
SPTA1-related disorder 17 18 0 11 15 0 1 21
TERT-related disorder 79 50 0 4 14 0 3 21
TRAPPC9-related disorder 8 17 0 11 11 0 0 21
TYR-related disorder 6 29 0 15 1 0 6 21
WDR62-related disorder 11 18 0 12 14 0 0 21
alpha Thalassemia 344 38 0 20 0 0 1 21
ANK1-related disorder 42 14 0 6 16 0 0 20
ATP1A3-related disorder 30 19 0 15 4 0 3 20
Autosomal recessive limb-girdle muscular dystrophy type 2I 245 18 0 10 1 0 10 20
C2CD3-related disorder 7 20 0 14 6 0 0 20
COL12A1-related disorder 26 49 0 10 10 0 1 20
Cerebral cavernous malformation 515 40 0 12 8 0 1 20
Colorectal cancer, non-polyposis 0 4 0 5 20 0 0 20
Combined immunodeficiency due to ZAP70 deficiency 454 21 0 5 13 0 2 20
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 16 13 0 11 4 0 5 20
Congenital factor VII deficiency 57 14 0 15 2 0 4 20
Dermatitis, atopic, 2; Ichthyosis vulgaris 14 9 3 18 1 0 2 20
Dilated cardiomyopathy 1KK 1148 45 0 15 6 0 4 20
EVC-related disorder 29 8 0 7 13 0 0 20
Enhanced S-cone syndrome 171 44 0 12 3 0 5 20
FANCC-related disorder 8 27 0 15 11 0 1 20
Familial juvenile hyperuricemic nephropathy type 1 260 20 0 8 4 0 8 20
Fanconi anemia complementation group J 260 29 0 10 8 0 4 20
GJB2-related disorder 2 24 1 17 3 0 2 20
GNE myopathy; Sialuria 784 35 0 16 2 0 2 20
GRIN2B-related disorder 16 9 0 17 7 0 0 20
Generalized pustular psoriasis 164 4 0 6 10 0 6 20
Glycogen storage disease IXa1 395 18 0 13 1 0 8 20
Hemochromatosis type 1 47 17 2 11 7 0 4 20
Hereditary hemochromatosis 1185 15 2 11 7 0 4 20
Hypogonadotropic hypogonadism 3 with or without anosmia 86 16 0 8 9 0 9 20
Intellectual disability, X-linked 102 198 16 0 17 1 0 2 20
Intellectual disability, autosomal recessive 53 918 35 0 7 6 0 7 20
Interstitial lung disease due to ABCA3 deficiency 285 33 0 9 10 0 3 20
Joubert syndrome 14 376 47 0 9 10 0 4 20
KCNMA1-related disorder 34 17 0 11 8 0 1 20
KCNQ2-Related Disorders 24 29 0 17 1 0 3 20
LRRK1-related disorder 7 61 0 20 0 0 0 20
Leber congenital amaurosis 6 124 34 0 2 17 0 2 20
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 13 10 0 15 3 0 2 20
MCPH1-related disorder 4 19 0 14 6 0 1 20
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 219 41 0 12 2 0 6 20
Mucopolysaccharidosis, MPS-IV-B 147 24 0 20 0 0 0 20
NBEAL2-related disorder 32 14 0 13 11 0 0 20
Nemaline myopathy 319 10 0 11 0 0 9 20
Niemann-Pick disease, type C2 225 21 0 12 5 0 5 20
Osteogenesis imperfecta 847 35 0 16 4 0 1 20
POMT1-related disorder 18 5 0 5 14 0 2 20
Pseudohypoaldosteronism type 2B 245 18 0 15 5 0 1 20
Pyknodysostosis 123 32 0 16 4 0 0 20
RAD50-related disorder 31 20 0 7 13 0 2 20
SETD2-related disorder 47 19 0 17 3 0 0 20
SETD5-related disorder 22 23 0 14 5 0 2 20
SLC10A2-related disorder 12 25 0 3 18 0 0 20
SLC27A5-related disorder 32 28 0 6 18 0 0 20
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 380 42 0 18 0 0 2 20
Stüve-Wiedemann syndrome 1 138 33 0 11 9 0 1 20
Tyrosinemia type II 408 19 0 14 5 0 3 20
UNC80-related disorder 9 55 0 16 3 0 1 20
Wilms tumor 1 1269 65 0 5 13 0 2 20
ACTN2-related disorder 12 13 0 12 8 0 1 19
ADAMTS13-related disorder 12 18 0 8 9 0 2 19
ALMS1-related disorder 236 31 0 2 14 0 3 19
Aicardi-Goutieres syndrome 2 447 24 0 11 5 0 3 19
Amyotrophic lateral sclerosis type 10 70 15 0 10 4 0 5 19
Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 125 13 0 10 4 0 5 19
Amyotrophic lateral sclerosis type 21 533 23 0 5 11 0 3 19
Amyotrophic lateral sclerosis type 4 355 33 0 11 5 0 3 19
Arginine:glycine amidinotransferase deficiency 535 30 0 9 12 0 1 19
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 8 7 0 1 17 0 1 19
Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 457 34 0 7 1 0 11 19
COL9A1-related disorder 13 25 0 10 10 0 1 19
Congenital prothrombin deficiency 332 12 1 5 12 0 1 19
Connective tissue disorder 1326 11 0 17 2 0 0 19
DCTN1-related disorder 76 36 0 9 10 0 1 19
DMXL2-related disorder 13 43 0 15 4 0 0 19
DNAH11-related disorder 106 19 0 4 14 0 1 19
DSC2-related disorder 7 6 0 11 10 0 1 19
DSG2-related disorder 4 13 0 13 9 0 1 19
Developmental and epileptic encephalopathy, 23 1420 128 0 13 6 0 0 19
Developmental and epileptic encephalopathy, 4 206 28 0 18 0 0 1 19
Dilated cardiomyopathy 1A 199 13 2 10 4 0 3 19
ERCC2-related disorder 10 14 0 13 6 0 0 19
ERCC6L2-related disorder 7 14 0 16 5 0 0 19
EVC2-related disorder 37 11 0 13 6 0 0 19
Exostoses, multiple, type 1 72 40 0 11 8 0 0 19
FH-related disorder 2 31 0 10 10 0 2 19
Factor VII deficiency 85 11 0 15 2 0 3 19
Familial hemophagocytic lymphohistiocytosis 4 356 13 0 10 8 0 1 19
GM3 synthase deficiency 416 24 0 10 9 0 1 19
Glycogen storage disease IXd 521 34 0 6 13 0 0 19
HBB-related disorder 2 14 0 11 5 3 4 19
Hereditary spastic paraplegia 47 250 65 0 13 3 0 4 19
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 273 6 0 7 12 0 0 19
Hypomyelinating leukodystrophy 6 231 18 0 15 1 0 4 19
IGSF10-related disorder 9 51 0 17 2 0 0 19
Immunodeficiency, common variable, 2 305 20 2 8 5 0 10 19
Inherited polyposis and early onset colorectal cancer - germline testing 9 18 0 7 12 0 3 19
MED13L-related disorder 51 19 0 16 3 0 0 19
Marinesco-Sjögren syndrome 243 51 0 6 12 0 1 19
Meckel syndrome, type 1 208 23 0 11 6 0 2 19
Melanoma-pancreatic cancer syndrome 366 38 0 14 4 0 2 19
NPHP1-related disorder 60 24 0 3 16 0 0 19
Neurodegeneration with brain iron accumulation 5 434 23 0 15 2 0 3 19
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 998 10 0 10 3 0 7 19
PACS2-related disorder 5 20 0 17 2 0 0 19
PEX6-related disorder 74 27 0 8 12 0 2 19
Pituitary hormone deficiency, combined, 2 108 26 0 12 4 0 5 19
RP1L1-related disorder 48 17 0 10 9 0 2 19
Rotor syndrome 209 46 0 6 11 0 2 19
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1363 19 0 7 9 0 5 19
SCN4A-related disorder 29 17 0 12 9 0 0 19
TCIRG1-related disorder 7 28 0 9 11 0 1 19
TNS2-related disorder 17 23 0 14 6 0 0 19
Transient Neonatal Diabetes, Recessive 27 12 0 10 9 0 0 19
WDR35-related disorder 26 9 0 6 14 0 0 19
ZEB2-related disorder 26 5 0 16 4 0 0 19
ABCC9-related disorder 7 14 0 13 4 0 2 18
ACTG1-related disorder 24 18 0 15 3 0 1 18
ARHGAP31-related disorder 24 17 0 9 11 0 0 18
ATRX-related disorder 43 21 0 14 5 0 0 18
Aicardi-Goutieres syndrome 5 862 28 0 7 9 0 2 18
Autoimmune lymphoproliferative syndrome type 2A 522 30 0 7 9 0 2 18
Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 394 26 0 3 4 0 11 18
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1480 97 0 3 15 0 0 18
Autosomal recessive nonsyndromic hearing loss 2 448 30 0 12 2 0 4 18
Autosomal recessive nonsyndromic hearing loss 8 143 18 0 15 1 0 3 18
BRAF-related disorder 23 23 0 15 6 0 0 18
Beckwith-Wiedemann syndrome 1157 76 0 9 7 0 2 18
Bilateral frontoparietal polymicrogyria 246 27 0 13 4 0 1 18
CACNA1G-related disorder 16 20 0 15 3 0 0 18
CC2D1A-related disorder 0 15 0 13 6 0 1 18
CDKN1B-related disorder 10 8 0 9 11 0 0 18
COG8-congenital disorder of glycosylation 129 10 0 7 11 0 0 18
Carnitine acylcarnitine translocase deficiency 264 26 0 13 4 0 2 18
Charcot-Marie-Tooth disease type 4A 372 9 0 7 0 0 13 18
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 257 14 0 5 13 0 0 18
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 138 22 0 14 1 0 6 18
DDX41-related hematologic malignancy predisposition syndrome 172 27 3 8 0 0 10 18
Decreased response to growth hormone stimulation test 17 12 0 6 12 0 0 18
Deficiency of isobutyryl-CoA dehydrogenase 181 18 0 8 6 0 5 18
Developmental disorder 173 25 0 5 7 0 8 18
Diamond-Blackfan anemia 1 47 32 0 11 5 0 3 18
Dihydropteridine reductase deficiency 315 24 0 12 6 0 0 18
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 3259 85 0 9 7 0 2 18
Dystonia 5 84 23 0 8 4 0 7 18
EAST syndrome 342 16 0 4 13 0 1 18
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 54 8 0 4 13 0 1 18
ERCC6-related disorder 8 26 0 8 10 0 0 18
EXPH5-related disorder 7 15 0 18 0 0 0 18
Encephalopathy due to GLUT1 deficiency 271 46 0 15 3 0 0 18
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 8 50 0 13 5 0 0 18
F8-related disorder 39 13 0 9 1 0 8 18
FGFR1-related disorder 40 21 2 10 7 0 0 18
FGFR3-related disorder 24 66 0 9 9 0 1 18
FOXP1-related disorder 14 14 0 16 2 0 1 18
Hereditary spastic paraplegia 50 326 13 0 11 5 0 3 18
Hirschsprung disease, susceptibility to, 2 52 8 0 6 13 0 3 18
Hyperekplexia 3 736 22 0 9 4 0 6 18
Hyperinsulinism-hyperammonemia syndrome 185 11 0 6 7 0 5 18
IFT140-related disorder 83 24 0 10 8 0 0 18
Inherited Immunodeficiency Diseases 51 17 0 12 0 1 8 18
Intellectual disability 3403 24 0 14 2 0 3 18
Joubert syndrome 17 266 30 0 11 3 0 5 18
LAMB1-related disorder 9 33 0 8 11 0 0 18
LDB3-related disorder 5 18 0 11 8 0 0 18
LRRC56-related disorder 3 28 0 14 4 0 0 18
Lafora disease 354 23 0 9 7 0 2 18
Legius syndrome 754 45 0 8 10 0 1 18
Lissencephaly due to TUBA1A mutation 114 12 0 16 0 0 4 18
MEFV-related disorder 18 14 0 9 8 0 4 18
MYOM1-related disorder 11 28 0 13 6 0 0 18
MYPN-related disorder 12 25 0 12 7 0 0 18
Mismatch repair cancer syndrome 1; Lynch syndrome 4 0 22 0 3 14 0 1 18
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 307 20 0 5 9 0 4 18
Myoclonic dystonia 11 562 56 0 8 10 0 1 18
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 1076 49 0 4 13 0 1 18
Neuronal ceroid lipofuscinosis 8 123 18 0 9 3 0 9 18
Noonan syndrome 8 221 67 0 14 1 0 3 18
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 63 24 0 16 0 0 5 18
PALLD-related disorder 15 41 0 9 12 0 0 18
PGM1-congenital disorder of glycosylation 312 26 0 5 11 0 3 18
Pyruvate dehydrogenase E1-beta deficiency 332 9 0 12 5 0 3 18
RAD51C-related disorder 8 25 0 10 6 0 2 18
RAF1-related disorder 16 17 0 14 10 0 0 18
SI-related disorder 10 17 0 12 7 0 3 18
SLC12A3-related disorder 7 26 0 12 6 0 1 18
SPG11-related disorder 28 18 0 12 7 0 1 18
TMEM43-related disorder 0 8 0 11 9 0 0 18
VHL-related disorder 36 23 0 7 10 0 3 18
VPS33B-related disorder 14 18 0 6 14 0 0 18
Woodhouse-Sakati syndrome 460 21 0 5 13 0 0 18
ZNF335-related disorder 10 9 0 12 8 0 1 18
von Willebrand disease type 2 189 17 0 9 2 0 9 18
5-Oxoprolinase deficiency 368 45 0 12 3 0 3 17
ALPK2-related disorder 58 11 0 10 7 0 0 17
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 203 23 0 10 5 0 3 17
Autosomal recessive nonsyndromic hearing loss 9 380 64 0 9 2 0 7 17
BAP1-related disorder 17 29 0 7 10 0 0 17
CACNA1B-related disorder 14 24 0 10 7 0 1 17
COL1A2-related disorder 39 39 0 11 4 0 2 17
COQ8A-related disorder 5 14 0 13 5 0 0 17
Cone-rod dystrophy 13 90 26 0 0 16 0 1 17
Congenital disorder of glycosylation type 1E 216 14 0 4 10 0 3 17
DGUOK-related disorder 9 19 0 6 12 0 1 17
DVL1-related disorder 9 16 0 16 1 0 0 17
Deficiency of steroid 17-alpha-monooxygenase 124 48 0 13 2 0 2 17
Developmental and epileptic encephalopathy, 25 605 53 0 12 2 0 5 17
Developmental and epileptic encephalopathy, 30 994 23 0 5 11 0 2 17
EGFR-related disorder 10 38 0 11 7 1 0 17
ELN-related disorder 43 21 0 3 12 0 2 17
FN1-related disorder 12 25 0 14 4 0 0 17
Familial aortopathy 38 22 0 12 0 0 6 17
GALNT12-related disorder 3 18 0 11 7 0 0 17
GPBAR1-related disorder 30 20 0 4 13 0 0 17
Heimler syndrome 2 92 29 0 11 0 0 8 17
Hereditary spherocytosis type 5 112 19 0 4 11 0 2 17
Holoprosencephaly 11 414 45 0 7 10 0 0 17
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 79 22 0 7 3 0 7 17
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 642 22 0 7 3 0 7 17
Hypogonadotropic hypogonadism 1 with or without anosmia 230 16 0 8 7 0 2 17
Hypomyelination and Congenital Cataract 263 20 0 9 8 0 0 17
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 79 20 0 10 0 0 7 17
IFT74-related disorder 62 107 0 10 6 0 2 17
INSR-related disorder 18 16 0 9 10 0 1 17
Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 38 22 0 10 5 0 2 17
Isolated microphthalmia 2 356 5 0 2 15 0 0 17
KANK1-related disorder 17 39 0 6 11 0 0 17
KDM6B-related disorder 51 21 0 14 3 0 0 17
KIT-related disorder 44 28 0 6 14 0 0 17
LTBP2-related disorder 3 26 0 11 8 0 1 17
LYST-related disorder 58 22 0 6 12 0 0 17
Leber congenital amaurosis 3 380 36 0 4 13 0 1 17
Lymphoproliferative syndrome 1 509 18 0 3 14 0 0 17
Male infertility with azoospermia or oligozoospermia due to single gene mutation 53 5 0 5 1 0 12 17
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 59 7 0 11 1 0 7 17
Muscle AMP deaminase deficiency 432 36 0 4 14 0 5 17
Myocardial infarction, susceptibility to; Congenital factor VII deficiency 5 7 0 12 1 1 4 17
Myofibrillar myopathy 3 353 46 0 3 12 0 2 17
NOD2-related disorder 22 11 0 6 11 0 0 17
NRIP1-related disorder 19 15 0 10 7 0 0 17
Nemaline myopathy 5 293 9 0 6 10 0 1 17
Neonatal pseudo-hydrocephalic progeroid syndrome 17 0 0 17 0 0 0 17
Neuropathy, hereditary sensory and autonomic, type 1C 537 25 0 16 0 0 2 17
Non-obstructive azoospermia 76 5 0 8 6 0 3 17
Obesity 162 7 0 7 4 2 7 17
PDZD7-related disorder 3 6 0 10 6 0 4 17
PLCE1-related disorder 20 17 0 8 9 0 1 17
RAD51D-related disorder 13 18 0 9 11 0 1 17
Recessive dystrophic epidermolysis bullosa 252 31 0 13 0 0 4 17
Retinitis pigmentosa 59 466 32 0 6 9 0 2 17
Succinyl-CoA acetoacetate transferase deficiency 175 9 0 11 6 0 1 17
Sulfate transporter-related osteochondrodysplasia 120 21 0 10 7 0 0 17
TAF1-related disorder 12 11 0 16 3 0 0 17
TRPM1-related disorder 11 22 0 12 7 0 0 17
Vanishing white matter disease 330 39 0 10 5 0 3 17
Xeroderma pigmentosum, group C 219 72 0 15 2 0 3 17
ZNF407-related disorder 24 12 0 14 4 0 0 17
ARFGEF2-related disorder 10 17 0 8 10 0 0 16
Abnormality of neuronal migration 93 4 0 12 7 0 0 16
Acute rhabdomyolysis 9 9 0 12 1 0 6 16
BBS1-related disorder 162 33 0 4 9 0 3 16
Baraitser-Winter syndrome 1 425 37 0 11 0 0 6 16
C6-related disorder 5 5 0 14 2 0 1 16
CAPN3-related disorder 4 14 0 5 8 0 5 16
CARD14-related disorder 30 6 0 11 4 0 1 16
CBL-related disorder 345 18 0 13 2 0 2 16
CDK5RAP2-related disorder 8 23 0 6 11 0 0 16
Ceroid lipofuscinosis, neuronal, 6A 72 10 0 9 0 0 10 16
Citrullinemia 768 26 0 12 0 0 4 16
Congenital long QT syndrome 835 121 0 15 1 0 0 16
DEAF1-related disorder 10 15 0 6 8 0 2 16
DEPDC5-related disorder 39 18 0 14 6 0 1 16
Disseminated atypical mycobacterial infection 300 32 0 12 2 1 1 16
Dystonia 5; GTP cyclohydrolase I deficiency 396 22 0 7 4 0 6 16
ELP1-Associated Medulloblastoma 7 6 0 14 1 0 1 16
FGFR2-related disorder 18 28 0 9 9 0 0 16
FLG-related disorder 16 14 2 15 1 0 2 16
FSIP2-related disorder 110 15 0 6 10 0 0 16
GBE1-related disorder 16 9 0 5 4 0 7 16
GPR179-related disorder 3 21 0 15 2 0 0 16
GRACILE syndrome 118 15 0 9 4 0 3 16
HERC2-related disorder 38 21 0 10 6 0 1 16
HNF4A-related disorder 18 8 0 12 1 0 5 16
Hepatic veno-occlusive disease-immunodeficiency syndrome 450 41 0 8 8 0 1 16
Hypertrophic cardiomyopathy 10 410 25 0 8 3 0 6 16
Hypophosphataemia or rickets 10 10 0 13 1 0 4 16
Ichthyosis and erythrokeratoderma 9 7 2 10 0 0 7 16
Immunodeficiency, common variable, 4 177 2 0 5 12 0 0 16
Intellectual developmental disorder 62 71 35 0 15 0 0 1 16
Intellectual disability, autosomal dominant 6 149 17 0 13 0 0 3 16
JUP-related disorder 5 15 0 9 8 0 0 16
Joubert syndrome; Meckel-Gruber syndrome 6372 60 0 8 6 0 2 16
LAMA3-related disorder 18 33 0 12 6 0 0 16
LAMC2-related disorder 0 10 0 12 6 0 0 16
LRP1B-related disorder 92 21 0 14 2 0 0 16
LZTR1-related schwannomatosis 377 15 0 11 0 0 6 16
Leber congenital amaurosis 2 185 32 0 14 0 0 2 16
MAP1B-related disorder 65 24 0 15 0 0 1 16
MAPKBP1-related disorder 16 11 0 15 1 0 0 16
MBD5-related disorder 20 10 0 10 8 0 2 16
MECOM-related disorder 16 15 0 11 5 0 0 16
Macrothrombocytopenia 47 11 0 4 2 0 10 16
Meckel syndrome, type 8; Joubert syndrome 24 60 60 0 8 6 0 2 16
Migalastat response 30 0 0 0 0 16 0 16
Mitochondrial DNA depletion syndrome 13 383 21 0 12 0 0 4 16
Mitochondrial DNA depletion syndrome 9 252 20 0 2 12 0 3 16
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 148 21 0 14 1 0 1 16
NEK1-related disorder 88 16 0 5 12 0 1 16
Nephronophthisis-like nephropathy 1 257 23 0 6 10 0 0 16
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 34 21 0 13 0 0 6 16
PKD2-related disorder 52 28 0 10 5 0 1 16
PRKAG2-related disorder 13 3 0 9 7 0 0 16
PTPN23-related disorder 4 20 0 13 4 0 0 16
Pheochromocytoma/paraganglioma syndrome 4 264 31 0 14 2 0 0 16
RERE-related disorder 30 22 0 11 5 0 0 16
Rare genetic intellectual disability 30 11 0 11 3 0 2 16
Retinitis pigmentosa 4 89 19 0 16 0 0 0 16
Rod-cone dystrophy 19 13 0 9 0 0 8 16
SCN9A-related disorder 14 12 0 8 10 0 0 16
SLX4-related disorder 31 21 0 7 10 0 1 16
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 510 94 0 9 7 0 0 16
TBC1D24-related disorder 6 16 0 12 4 0 1 16
TCF3-related disorder 6 32 0 14 2 0 0 16
TG-related disorder 21 33 0 12 3 0 2 16
TUBB1-related disorder 2 8 0 9 5 0 3 16
Upshaw-Schulman syndrome 345 40 0 8 4 0 4 16
VPS13A-related disorder 5 25 0 11 7 0 0 16
Xanthinuria type II 867 65 0 12 3 0 1 16
ABCA1-related disorder 1 14 0 12 3 0 0 15
ABCA3-related disorder 10 19 0 9 9 0 1 15
AEBP1-related disorder 3 19 0 12 3 0 0 15
AGL-related disorder 26 14 0 7 8 0 0 15
ALG8 congenital disorder of glycosylation 206 20 0 2 11 0 2 15
Abnormality of coagulation 12 5 0 6 2 0 7 15
Acrodermatitis continua suppurativa of Hallopeau 6 2 0 4 6 0 7 15
Alzheimer disease 4 210 21 0 7 6 0 3 15
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1340 6 0 2 13 0 0 15
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 1117 19 0 10 4 0 1 15
BEST1-related disorder 11 16 0 10 6 0 1 15
Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 2 13 0 1 10 4 0 15
Brittle cornea syndrome 1 276 31 0 13 2 0 0 15
CBS-related disorder 18 20 0 10 3 0 2 15
CENPF-related disorder 35 17 0 6 9 0 0 15
CEP135-related disorder 6 4 0 10 7 0 0 15
CFB-related disorder 1 8 0 14 1 0 0 15
CHD2-related disorder 27 13 0 14 2 0 0 15
CPT2-related disorder 7 10 0 7 9 0 2 15
Childhood onset hearing loss 7 10 0 2 10 0 3 15
Chromosome 2q32-q33 deletion syndrome 703 22 0 7 6 0 2 15
Congenital secretory diarrhea, chloride type 134 8 0 13 0 0 2 15
Cystic fibrosis; CFTR-related disorder 45 23 0 15 0 0 0 15
DNMT1-related disorder 12 11 0 11 4 0 0 15
DOCK8-related disorder 39 21 0 7 8 0 1 15
DPYD-related disorder 9 7 0 3 4 9 5 15
Deafness 36 9 0 12 0 0 9 15
Deficiency of butyrylcholinesterase 89 14 1 11 1 0 5 15
Developmental and epileptic encephalopathy, 11 225 17 0 14 0 0 2 15
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 25042 25 0 10 0 0 5 15
Dilated cardiomyopathy 1J 885 10 0 4 11 0 0 15
Dystrophin deficiency 10 31 0 2 13 0 0 15
EPG5-related disorder 45 21 0 12 5 0 0 15
EPHB4-related disorder 20 15 0 11 3 0 3 15
EPPK1-related disorder 173 10 0 3 12 0 0 15
FBLN1-related disorder 9 6 0 9 7 0 0 15
FGD1-related disorder 12 7 0 14 4 0 1 15
Familial Mediterranean fever, autosomal dominant 208 9 0 3 9 0 4 15
Finnish type amyloidosis 224 8 0 10 2 0 3 15
GALC-related disorder 10 9 0 9 7 0 2 15
GLI3-related disorder 89 20 0 11 6 0 0 15
GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 9 14 0 13 0 0 2 15
Glycogen storage disease due to muscle beta-enolase deficiency 298 18 0 6 6 0 4 15
Glycogen storage disease type X 129 15 0 7 8 0 3 15
Hereditary retinoblastoma 54 37 1 13 1 0 0 15
Hypogonadotropic hypogonadism 2 with or without anosmia 315 12 2 8 2 0 3 15
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 148 18 0 11 3 0 2 15
IFIH1-related disorder 28 13 0 11 7 0 0 15
IGF1R-related disorder 14 29 0 8 8 0 0 15
INVS-related disorder 43 16 0 2 13 0 0 15
IRF2BPL-related disorder 36 6 0 13 2 0 1 15
Inherited phaeochromocytoma and paraganglioma excluding NF1 16 15 0 11 1 0 4 15
Intellectual disability, autosomal dominant 16 625 24 0 5 3 0 8 15
Iron accumulation in brain 27 14 0 5 2 0 8 15
Joubert syndrome 16 130 15 0 7 7 0 2 15
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 3080 192 0 3 11 0 1 15
Kabuki syndrome 2 893 47 0 6 9 0 0 15
LMF1-related disorder 4 14 0 9 6 0 2 15
Leber congenital amaurosis 9 179 8 0 11 0 0 4 15
MAP2K2-related disorder 8 16 0 12 3 0 0 15
MAST1-related disorder 11 13 0 15 0 0 0 15
MTR-related disorder 9 2 0 8 7 0 1 15
MUC16-related disorder 407 42 0 15 0 0 0 15
Melanoma, cutaneous malignant, susceptibility to, 3 355 13 1 6 8 0 0 15
Methylmalonic acidemia with homocystinuria, type cblX 1135 29 0 6 9 0 1 15
Muscle eye brain disease 226 12 0 14 0 0 1 15
NIN-related disorder 5 11 0 8 8 0 0 15
NPHS1-related disorder 8 29 0 6 9 0 0 15
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 214 11 0 5 10 0 0 15
OBSL1-related disorder 13 23 0 9 7 0 1 15
PCSK9-related disorder 5 8 0 9 6 0 3 15
PDGFRA-related disorder 48 31 0 4 12 0 0 15
PEX5-related disorder 43 4 0 1 14 0 0 15
POGZ-related disorder 26 7 0 10 3 0 2 15
Peroxisome biogenesis disorder 2308 27 0 13 0 0 2 15
Peroxisome biogenesis disorder 12A (Zellweger) 388 9 0 5 9 0 1 15
Primary ciliary dyskinesia 19 217 20 0 5 9 0 2 15
Proline dehydrogenase deficiency; Schizophrenia 4 123 8 0 6 5 0 4 15
Prostate cancer, hereditary, 9 272 7 0 12 3 0 1 15
Pyridoxal phosphate-responsive seizures 310 26 0 12 2 0 1 15
RIN2-related disorder 9 18 0 8 7 0 1 15
RREB1-related disorder 17 21 0 14 2 0 0 15
Roberts-SC phocomelia syndrome 159 21 0 10 5 0 0 15
SALL1-related disorder 40 15 0 10 5 0 0 15
SCN8A-related disorder 32 28 0 9 8 0 2 15
SLC2A1-related disorder 16 13 0 9 9 0 2 15
SLC4A1-related disorder 14 11 0 12 5 0 1 15
SNRNP200-related disorder 0 20 0 11 4 0 0 15
SOX10-related disorder 16 7 0 10 7 0 2 15
TGFBR2-related disorder 16 10 0 9 7 0 2 15
TGM6-related disorder 7 3 0 15 0 0 0 15
TNNI3K-related disorder 0 12 0 11 3 0 1 15
TTN-related myopathy 21 17 0 10 0 0 5 15
TUB-related disorder 64 128 0 4 10 0 1 15
Treacher Collins syndrome 1 727 28 0 10 4 0 1 15
UNC13A-related disorder 90 23 0 8 6 0 1 15
Vesicoureteral reflux 2 274 17 0 9 5 0 1 15
3-hydroxyisobutyryl-CoA hydrolase deficiency 161 8 0 11 1 0 4 14
ACACB-related disorder 45 21 0 7 7 0 0 14
ACADVL-related disorder 29 21 0 9 1 0 4 14
ACTN1-related disorder 13 12 0 11 2 0 1 14
ACVRL1-related disorder 7 11 0 12 2 0 1 14
ADCY10-related disorder 5 10 0 7 8 0 0 14
AR-related disorder 29 10 0 12 3 0 1 14
Abnormality of the eye 22 11 0 9 0 0 5 14
Abnormality of the skin 14 14 0 14 0 0 1 14
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 0 20 0 1 11 0 3 14
Albinism or congenital nystagmus 5 7 0 11 2 2 4 14
Alpha-N-acetylgalactosaminidase deficiency type 1 324 15 0 5 9 0 2 14
Arrhythmogenic right ventricular dysplasia 5 648 231 0 3 9 0 2 14
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 10 28 0 3 9 0 2 14
BAAT-related disorder 10 5 0 3 12 0 0 14
Baller-Gerold syndrome 4799 30 0 8 6 0 0 14
CAD-related disorder 3 29 0 14 1 0 0 14
CDH2-related disorder 9 14 0 13 1 0 0 14
CHD4-related disorder 28 23 0 7 5 0 2 14
CLCN1-related disorder 13 17 0 7 5 0 3 14
COL3A1-related disorder 22 26 0 7 7 0 0 14
CTNNA1-related disorder 2 50 0 9 4 0 2 14
Cataract 6 multiple types 169 48 0 8 6 0 0 14
Catecholaminergic polymorphic ventricular tachycardia 2 165 48 0 11 3 0 1 14
Cerebroretinal microangiopathy with calcifications and cysts 1 156 54 0 11 2 0 2 14
Charcot-Marie-Tooth disease type 2 7469 24 0 5 9 0 0 14
Charcot-Marie-Tooth disease type 4 6047 27 0 1 10 0 3 14
Cone-rod dystrophy 6; Leber congenital amaurosis 1 1328 21 0 9 4 0 1 14
Congenital amegakaryocytic thrombocytopenia 1 11 12 0 8 4 0 3 14
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 492 46 0 6 8 0 0 14
DCDC2-related disorder 31 6 0 3 11 0 0 14
DNAH10-related disorder 41 14 0 7 7 0 0 14
DNAJC21-related disorder 4 11 0 9 4 0 1 14
DOK7-related disorder 19 16 0 8 5 0 1 14
DYRK1B-related disorder 168 44 0 9 5 0 0 14
Dubin-Johnson syndrome 192 17 0 11 0 0 4 14
ERBIN-related disorder 14 31 0 9 5 0 0 14
ERMARD-related disorder 6 10 0 12 4 0 0 14
Episodic ataxia type 1 557 67 0 5 5 0 4 14
FCSK-related disorder 8 31 0 10 4 0 0 14
FKTN-related disorder 3 5 0 5 10 0 1 14
FMN1-related disorder 10 15 0 9 5 0 0 14
GLA-related disorder 16 14 0 6 7 3 6 14
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 1048 64 0 7 4 0 3 14
HPS1-related disorder 2 25 0 4 10 0 0 14
Hearing loss, autosomal recessive 204 4 0 13 0 0 1 14
Heimler syndrome 1 138 33 0 13 1 0 0 14
Hereditary spastic paraplegia 30 283 6 0 12 2 0 0 14
Hyper-IgM syndrome type 2 254 13 0 7 4 0 3 14
Hypouricemia, renal, 2 77 13 0 12 1 0 3 14
INPP5E-related disorder 170 32 0 7 4 0 3 14
ITPR3-related disorder 32 40 0 14 0 0 0 14
Immunodeficiency 23 524 16 0 11 2 0 2 14
JPH2-related disorder 7 14 0 10 7 0 0 14
Joubert syndrome 15 364 15 0 4 6 0 4 14
KATNIP-related disorder 8 29 0 11 3 0 0 14
KIAA0586-related disorder 35 11 0 6 8 0 0 14
Kartagener syndrome 139 15 0 7 1 0 7 14
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 340 35 0 1 13 0 2 14
Leber congenital amaurosis 1 158 16 0 10 1 0 3 14
Leukocyte adhesion deficiency type II 273 19 0 2 11 0 1 14
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 261 26 0 10 0 0 5 14
Lynch syndrome 1; Mismatch repair cancer syndrome 1; Muir-Torré syndrome 0 10 0 0 14 0 0 14
MELAS syndrome 556 30 0 11 0 0 3 14
Macular corneal dystrophy 253 26 0 7 6 0 3 14
Matthew-Wood syndrome 134 20 0 5 8 0 1 14
Maturity-onset diabetes of the young type 3 193 34 0 4 1 0 11 14
NEXMIF-related disorder 6 7 0 14 3 0 0 14
Ovarian neoplasm 438 12 0 7 0 0 7 14
PACS1-related disorder 17 3 0 11 5 0 0 14
PEX14-related disorder 19 7 0 1 13 0 0 14
PNKP-related disorder 14 9 0 7 7 0 2 14
PNPT1-related disorder 5 17 0 8 5 0 2 14
POLQ-related disorder 27 35 0 10 5 0 0 14
Peters plus syndrome 205 16 0 3 10 0 1 14
Platelet-type bleeding disorder 10 115 10 0 10 0 0 5 14
Polydactyly 164 15 0 11 3 0 0 14
Predisposition to cancer 3 15 0 5 5 0 5 14
RAB3GAP1-related disorder 9 13 0 10 5 0 0 14
RECQL-related disorder 1 15 0 3 12 0 0 14
SDCCAG8-related disorder 189 19 0 6 8 0 0 14
SMARCAL1-related disorder 17 3 0 2 11 0 1 14
Spondyloepiphyseal dysplasia with congenital joint dislocations 368 5 0 4 6 0 4 14
TUBGCP6-related disorder 4 41 0 8 6 0 0 14
Telangiectasia, hereditary hemorrhagic, type 5 220 16 0 6 4 0 4 14
Thoracic aortic aneurysm or dissection 21 12 0 9 0 0 5 14
Thrombophilia due to protein S deficiency, autosomal dominant 150 11 0 5 3 0 9 14
Trimethylaminuria 91 12 0 11 1 0 3 14
UMOD-related disorder 20 11 0 9 6 0 4 14
Usher syndrome type 1D 517 57 0 7 7 0 1 14
VCL-related disorder 3 10 0 9 4 0 1 14
Vitelliform macular dystrophy 2 125 5 0 12 0 0 2 14
Xeroderma pigmentosum group A 109 24 0 10 0 0 5 14
ZFHX2-related disorder 22 9 0 5 10 0 0 14
ADAMTS2-related disorder 10 19 0 4 10 0 0 13
ADGRG1-related disorder 2 11 0 8 5 0 0 13
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 166 10 0 11 1 0 1 13
ALG13-related disorder 13 12 0 11 3 0 0 13
ANO5-related disorder 14 8 0 6 6 0 1 13
ASXL3-related disorder 54 4 0 12 1 0 0 13
ATP7A-related disorder 20 18 0 9 6 0 0 13
Adenine phosphoribosyltransferase deficiency 96 16 0 12 0 0 2 13
Adult hypophosphatasia 184 19 0 11 0 0 2 13
Alpha-methylacyl-CoA racemase deficiency 343 24 0 4 9 0 0 13
Autosomal dominant Alport syndrome 377 13 0 8 1 0 8 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 778 10 0 2 5 0 7 13
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 376 41 0 2 9 0 2 13
Autosomal recessive ataxia due to ubiquinone deficiency 149 27 0 10 0 0 4 13
BBS12-related disorder 130 21 0 4 7 0 3 13
Bardet-Biedl syndrome 4 234 28 0 9 3 0 3 13
Bardet-Biedl syndrome 9 336 36 0 11 2 0 0 13
Brown-Vialetto-van Laere syndrome 2 443 22 0 5 2 0 6 13
CDHR1-related disorder 2 16 0 7 5 0 2 13
CDK13-related disorder 18 22 0 8 3 0 2 13
CELSR1-related disorder 75 26 0 11 3 0 0 13
CIT-related disorder 11 21 0 9 4 0 0 13
CUL7-related disorder 8 18 0 6 8 0 0 13
Camptomelic dysplasia 332 11 0 10 3 0 0 13
Cardiac valvular dysplasia, X-linked 18 7 0 2 8 0 3 13
Charcot-Marie-Tooth disease dominant intermediate C 510 18 0 7 5 0 1 13
Christianson syndrome 425 34 0 5 8 0 0 13
Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 36 43 0 6 2 0 5 13
Combined oxidative phosphorylation defect type 21 32 1 0 10 0 0 5 13
Congenital myasthenic syndrome 12 514 14 0 4 6 0 3 13
DIAPH1-related disorder 23 11 0 7 7 0 0 13
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 264 11 0 1 10 0 2 13
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 875 33 0 8 2 0 6 13
Dyskeratosis congenita, autosomal recessive 5 196 18 0 7 0 0 7 13
ENPP1-related disorder 9 19 0 7 6 0 2 13
Epilepsy, familial focal, with variable foci 3 881 34 0 9 2 0 3 13
F7-related disorder 17 8 0 7 3 1 3 13
Factor VII-activating protease marburg I 57 24 0 7 6 0 1 13
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 7 4 0 8 5 0 0 13
Familial isolated deficiency of vitamin E 136 19 0 10 1 0 4 13
Fanconi-Bickel syndrome 227 24 0 4 8 0 1 13
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 566 24 0 8 3 0 2 13
GANAB-related disorder 17 12 0 6 8 0 0 13
GRN-related disorder 21 14 0 12 1 0 0 13
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 422 22 0 9 3 0 1 13
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 224 15 0 11 2 0 0 13
Griscelli syndrome type 2 274 22 0 8 4 0 1 13
HPS4-related disorder 7 13 0 5 8 0 0 13
HPS5-related disorder 3 15 0 8 5 0 0 13
Hereditary spastic paraplegia 35 112 13 0 11 0 0 4 13
Hypercalcemia, infantile, 1 203 22 0 10 1 0 2 13
IGHMBP2-related disorder 10 9 0 11 5 0 0 13
INF2-related disorder 38 19 0 12 1 0 0 13
Immunodeficiency 28 192 21 0 7 7 0 0 13
Immunodeficiency, common variable, 7 683 73 0 7 4 0 3 13
Isolated cryptophthalmia; Fraser syndrome 2 389 128 0 0 13 0 0 13
KDM5C-related disorder 9 9 0 12 1 0 1 13
KIF7-related disorder 39 17 0 5 9 0 0 13
KMT2E-related disorder 22 32 0 9 4 0 0 13
KRT10-related disorder 15 8 0 9 4 0 0 13
KRT5-related disorder 6 11 0 10 1 0 3 13
Long QT syndrome 11 249 33 0 9 3 0 1 13
Long telomere syndrome 15 3 0 4 0 0 11 13
MITF-related disorder 36 33 1 4 8 0 1 13
MKKS-related disorder 123 21 0 4 6 0 5 13
MRE11-related disorder 12 8 0 5 8 0 0 13
MYO3A-related disorder 11 9 0 10 3 0 0 13
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 99 32 0 7 6 0 0 13
Methylmalonic acidemia with homocystinuria, type cblJ 329 21 0 5 4 0 5 13
Migraine, familial hemiplegic, 2 173 26 0 11 0 0 2 13
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 307 25 0 6 7 0 0 13
Monogenic short statue 38 21 0 8 4 0 2 13
Mulibrey nanism syndrome 158 8 0 12 0 0 1 13
NALCN-related disorder 13 30 0 7 6 0 0 13
NIPBL-related disorder 90 18 0 8 5 0 1 13
NLRP12-related disorder 23 14 0 6 9 0 0 13
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 430 10 0 8 2 0 4 13
PIEZO2-related disorder 30 14 0 12 5 0 0 13
PIK3CA-related disorder 23 11 0 11 1 0 2 13
PLEKHG5-related disorder 6 10 0 8 6 0 0 13
POMGNT1-related disorder 14 4 0 6 10 0 1 13
PPARG-related disorder 63 28 0 8 6 0 0 13
Pancreatic cancer, susceptibility to, 1 135 16 0 7 6 0 0 13
RASA1-related disorder 16 10 0 10 3 0 1 13
RB1-related disorder 32 9 0 9 6 0 0 13
SMAD4-related disorder 14 23 0 10 5 0 0 13
STAT1-related disorder 4 17 0 10 4 0 0 13
Severe combined immunodeficiency due to DNA-PKcs deficiency 2685 28 0 3 10 0 0 13
Spondylocostal dysostosis 2, autosomal recessive 147 20 0 6 6 0 1 13
TBX1-related disorder 27 22 0 7 8 0 0 13
TENM4-related disorder 27 26 0 8 6 0 0 13
TMEM67-related disorder 78 23 0 10 4 0 0 13
TRPM4-related disorder 10 15 0 8 6 0 0 13
TRPV4-related disorder 15 9 0 12 2 0 0 13
TUBA1A-related disorder 8 10 0 9 3 0 4 13
Tibial muscular dystrophy 1828 331 0 6 7 0 0 13
Torsion dystonia 6 152 6 0 6 1 0 6 13
Usher syndrome type 1C 280 37 0 7 6 0 1 13
WT1-related disorder 40 20 0 6 7 0 0 13
ZNF341-related disorder 2 12 0 13 0 0 0 13
ZSWIM6-related disorder 14 14 0 12 1 0 0 13
fluorouracil response - Toxicity 0 1 0 0 0 13 0 13
3-methylglutaconic aciduria type 1 186 19 0 3 7 0 2 12
3-methylglutaconic aciduria, type VIIB 692 19 0 3 5 0 5 12
ACTC1-related disorder 8 8 0 9 1 0 2 12
ANKRD1-related disorder 4 7 0 11 3 0 0 12
ANXA11-related disorder 20 44 0 12 0 0 0 12
Abnormal bleeding 20 12 0 6 2 1 7 12
Achondrogenesis, type IB 288 46 0 11 1 0 0 12
Acute intermittent porphyria 117 10 0 10 1 0 4 12
Acute myeloid leukemia 12448 4666 2 2 4 0 6 12
Age related macular degeneration 4 197 43 1 7 0 0 4 12
Aneurysm-osteoarthritis syndrome 331 28 0 7 2 0 3 12
Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 1 41 0 4 7 0 1 12
Autoimmune interstitial lung disease-arthritis syndrome 875 14 0 3 6 0 3 12
BAG3-related disorder 3 16 0 7 7 0 0 12
BBS9-related disorder 209 35 0 5 6 0 1 12
Bardet-Biedl syndrome 6 111 3 0 10 1 0 1 12
Bartter disease type 2 134 13 0 8 1 0 6 12
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 17 17 0 7 4 0 1 12
Brugada syndrome 4 606 56 0 9 4 0 0 12
CAV3-related disorder 1 5 0 11 7 0 0 12
CDKL5 disorder 308 29 0 4 2 0 6 12
CDKN1C-related disorder 32 9 0 4 8 0 0 12
CDKN2A-related disorder 13 13 0 6 7 0 2 12
CHRNA4-related disorder 9 4 0 9 8 0 0 12
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 0 7 0 3 7 2 4 12
Cerebral creatine deficiency syndrome 515 14 0 6 0 0 6 12
Cerebral folate transport deficiency 209 11 0 4 6 0 3 12
Charcot-Marie-Tooth disease type 4H 193 12 0 2 2 0 8 12
Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 9 20 0 7 4 0 1 12
Citrin deficiency 662 23 0 7 2 0 3 12
Collagen 6-related myopathy 715 10 0 6 6 0 0 12
Combined oxidative phosphorylation defect type 27 683 24 0 4 4 0 5 12
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 529 21 0 9 3 0 0 12
DAG1-related disorder 7 6 0 6 7 0 0 12
DNAH17-related disorder 160 81 0 12 0 0 0 12
DNAH5-related disorder 86 29 0 3 9 0 0 12
DNM2-related disorder 11 9 0 11 2 0 0 12
Developmental and epileptic encephalopathy, 13 185 19 0 10 0 0 2 12
Developmental and epileptic encephalopathy, 31A 766 16 0 6 3 0 3 12
Developmental and epileptic encephalopathy, 7 216 31 0 11 0 0 2 12
Diabetes insipidus, nephrogenic, autosomal 160 16 0 10 0 0 2 12
Diamond-Blackfan anemia 6 100 12 0 8 2 0 2 12
EFL1-related disorder 4 11 0 12 0 0 0 12
EP400-related disorder 64 10 0 9 3 0 0 12
FAM20C-related disorder 5 9 0 7 4 0 1 12
FKRP-related disorder 3 6 0 7 8 0 1 12
FMN2-related disorder 57 72 0 8 4 0 0 12
Familial hypobetalipoproteinemia 1 300 8 0 7 2 0 3 12
Fanconi anemia complementation group L 174 30 0 9 2 0 3 12
Focal segmental glomerulosclerosis 2 226 20 0 5 3 0 4 12
G6PD-related disorder 12 4 0 6 2 7 0 12
GREB1L-related disorder 40 26 0 8 4 0 1 12
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 160 21 0 3 9 0 0 12
HDAC4-related disorder 27 12 0 8 4 0 0 12
Hemochromatosis type 2A 117 18 0 7 3 0 2 12
Hereditary spastic paraplegia 2097 19 0 5 5 0 2 12
Hermansky-Pudlak syndrome 3 229 35 0 10 1 0 1 12
Herpes simplex encephalitis, susceptibility to, 4 309 75 0 5 5 0 3 12
Hyper-IgM syndrome type 5 247 18 0 2 11 0 0 12
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 687 35 0 9 0 0 3 12
Hypofibrinogenemia 9 2 0 5 2 5 5 12
Idiopathic basal ganglia calcification 1 131 4 0 11 1 0 0 12
Inherited prion disease 27 11 0 11 2 0 1 12
Joubert syndrome 20; Meckel syndrome, type 11 397 36 0 5 6 0 1 12
Junctional epidermolysis bullosa 358 44 0 8 2 0 2 12
KCNH1-related disorder 11 15 0 7 6 0 0 12
KCNV2-related disorder 3 11 0 10 4 0 2 12
LIPA-related disorder 10 14 0 2 10 0 0 12
LPL-related disorder 2 11 0 10 2 1 1 12
LRBA-related disorder 39 18 0 6 9 0 0 12
Lysosomal acid lipase deficiency 192 37 0 7 5 0 0 12
MEN1-related disorder 36 19 0 6 4 0 2 12
MTHFR-related disorder 17 6 0 6 7 2 0 12
MYH7B-related disorder 11 29 0 8 5 0 0 12
MYH8-related disorder 11 4 0 8 5 0 0 12
Malignant hypothermia 0 2 0 3 8 0 2 12
Marfanoid habitus and intellectual disability 56 9 0 10 1 1 3 12
Methylmalonic aciduria and homocystinuria type cblF 409 20 0 6 6 0 0 12
Mosaic variegated aneuploidy syndrome 1 955 41 0 5 4 0 5 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 411 41 0 8 2 0 4 12
NBEA-related disorder 38 24 0 8 4 0 0 12
NDUFV1-related disorder 2 7 0 10 1 0 1 12
NTHL1-related disorder 1 33 0 5 8 0 2 12
Neonatal diabetes mellitus with congenital hypothyroidism 394 25 0 3 7 0 2 12
Nephrotic syndrome, type 3 412 47 0 5 5 0 2 12
Neuropathy, hereditary sensory and autonomic, type 1A 26 19 0 5 5 0 2 12
Obstructive azoospermia 3 4 1 6 2 4 7 12
Oculocutaneous albinism 115 6 0 11 1 0 0 12
Oculocutaneous albinism type 1B 17 12 0 9 0 0 4 12
PCSK1-related disorder 158 40 0 4 6 0 3 12
PHEX-related disorder 8 9 0 10 1 0 2 12
POMC-related disorder 81 26 0 4 7 0 4 12
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 442 17 0 9 1 0 2 12
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 23 14 0 4 1 0 8 12
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 42 23 0 9 1 0 5 12
Pontocerebellar hypoplasia type 2D 171 23 0 5 1 0 7 12
Primary ciliary dyskinesia 15 185 35 0 6 4 0 2 12
Primary ciliary dyskinesia 28 415 22 0 8 4 0 0 12
Pulmonary arterial hypertension 257 26 0 8 2 0 3 12
REST-related disorder 19 31 0 10 3 0 0 12
RNF43-related disorder 0 8 0 8 5 0 1 12
ROBO1-related disorder 23 23 0 10 3 0 0 12
Retinitis pigmentosa 28 201 37 0 10 2 0 0 12
SEMA3A-related disorder 132 39 0 2 9 0 2 12
SHANK3-related disorder 46 14 0 9 6 0 0 12
SKIC3-related disorder 3 23 0 8 5 0 0 12
SLC10A1-related disorder 33 7 0 0 8 0 4 12
SLC25A13-related disorder 37 14 0 2 11 0 0 12
SMCHD1-related disorder 16 4 0 7 7 0 0 12
SPECC1L-related disorder 16 17 0 10 3 0 0 12
SPTBN4-related disorder 23 19 0 11 1 0 0 12
SYNE4-related disorder 0 5 0 8 6 0 1 12
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 1496 11 0 2 10 0 0 12
TBCD-related disorder 2 22 0 6 5 0 1 12
TONSL-related disorder 5 30 0 7 1 0 4 12
TOP2B-related disorder 3 10 0 10 2 0 0 12
TP63-related disorder 12 20 0 9 4 0 1 12
Type A2 brachydactyly; Acromesomelic dysplasia 3 201 22 0 1 11 0 0 12
UBR4-related disorder 41 41 0 11 0 0 1 12
WHRN-related disorder 2 11 0 6 7 0 0 12
XIRP2-related disorder 60 30 0 9 3 0 0 12
von Willebrand disease type 1 236 18 1 7 2 0 3 12
46,XY sex reversal 6 198 10 0 4 6 0 2 11
ACACA-related disorder 7 19 0 10 3 0 0 11
ACAD9-related disorder 3 21 0 6 5 0 1 11
ACADM-related disorder 7 11 0 7 0 0 4 11
AMER1-related disorder 13 5 0 10 1 0 0 11
ANLN-related disorder 8 11 0 5 6 0 0 11
Abnormal cardiovascular system morphology 9 11 0 9 0 0 3 11
Aicardi-Goutieres syndrome 3 343 16 0 7 3 0 3 11
Androgen resistance syndrome; Kennedy disease 635 9 0 5 4 0 2 11
Autosomal dominant nonsyndromic hearing loss 11 323 23 0 6 5 0 0 11
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 445 3 0 4 6 0 1 11
Autosomal recessive limb-girdle muscular dystrophy type 2F 448 74 0 11 0 0 0 11
Autosomal recessive nonsyndromic hearing loss 30 154 25 0 6 3 0 2 11
BCOR-related disorder 35 14 0 5 7 0 0 11
BNC2-related disorder 8 9 0 10 1 0 0 11
Bartter disease type 1 295 36 0 9 2 0 1 11
Bilateral sensorineural hearing impairment 12 11 0 8 2 0 1 11
Breast cancer, susceptibility to 16 11 3 5 1 0 5 11
Brugada syndrome (shorter-than-normal QT interval) 2 6 0 9 1 0 2 11
C3-related disorder 4 25 0 9 4 0 1 11
CACNA1F-related disorder 11 25 0 5 5 0 1 11
CACNB4-related disorder 3 2 0 8 6 0 1 11
CD36-related disorder 25 6 0 4 4 0 5 11
CDAN1-related disorder 10 19 0 7 5 0 1 11
CDKL5-related disorder 16 11 0 6 8 0 0 11
CEP164-related disorder 113 23 0 3 7 0 2 11
CFAP410-related disorder 18 30 0 7 4 0 0 11
CHRNE-related disorder 14 6 0 5 4 0 4 11
CIC-related disorder 68 33 0 8 3 0 0 11
CLCN2-related disorder 9 10 0 10 1 0 1 11
CLCN4-related disorder 9 12 0 8 0 0 3 11
CLIC5-related disorder 1 9 0 8 4 0 0 11
COL27A1-related disorder 4 24 0 10 1 0 0 11
CSMD1-related disorder 70 24 0 6 5 0 0 11
CYP7B1-related disorder 6 25 0 3 8 0 1 11
Carney complex, type 1 972 20 0 5 4 0 2 11
Charcot-Marie-Tooth disease axonal type 2K 76 0 0 1 1 0 10 11
Colorectal cancer, susceptibility to 6 3 1 2 6 0 5 11
Congenital generalized lipodystrophy type 1 146 23 1 7 2 0 1 11
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 53 10 0 7 1 0 4 11
Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 4 17 0 8 3 0 0 11
Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 12 22 0 8 2 0 1 11
Costello syndrome 562 24 0 5 4 0 2 11
D2HGDH-related disorder 10 5 0 5 5 0 2 11
DNAH2-related disorder 68 37 0 11 0 0 0 11
Deficiency of adenosine deaminase 2 488 25 0 6 1 0 4 11
Deficiency of beta-ureidopropionase 66 4 0 5 1 0 5 11
Developmental and epileptic encephalopathy, 18 535 92 0 6 4 0 1 11
Developmental and epileptic encephalopathy, 76 36 1 0 9 0 0 2 11
Diabetes mellitus type 2, susceptibility to 12 2 0 1 1 1 9 11
EFHC1-related disorder 1 1 0 8 6 0 0 11
ESPN-related disorder 5 10 0 6 5 0 0 11
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 106 5 0 4 0 0 7 11
Ectodermal dysplasia and immunodeficiency 2 325 15 0 3 5 0 3 11
Ectopia lentis 2, isolated, autosomal recessive 112 58 0 8 2 0 1 11
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 476 13 0 3 4 0 4 11
Epilepsy, familial adult myoclonic, 5 806 12 0 5 6 0 0 11
FAN1-related disorder 26 19 0 9 3 0 0 11
FANCD2-related disorder 29 13 0 3 8 0 0 11
FOXG1-related disorder 15 9 0 10 4 0 0 11
Familial acute necrotizing encephalopathy 822 16 2 8 3 0 2 11
Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 1057 25 0 1 10 0 0 11
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 1020 17 0 8 3 0 0 11
Focal segmental glomerulosclerosis 1 177 10 0 10 0 0 1 11
GFM1-related disorder 6 9 0 9 3 0 0 11
GGCX-related disorder 4 10 0 11 0 0 0 11
GLB1-related disorder 31 14 0 7 3 0 1 11
GLDC-related disorder 17 19 0 9 2 0 0 11
Global developmental delay; Brain atrophy 1 0 0 0 1 0 10 11
Granulomatous disease, chronic, X-linked 634 28 0 7 2 0 2 11
HRAS-related disorder 12 18 0 9 4 0 0 11
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 355 6 0 10 0 0 1 11
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 5 6 0 10 0 0 1 11
Hereditary sensory and autonomic neuropathy type 1 393 19 0 4 5 0 2 11
Holt-Oram syndrome 207 12 0 9 0 0 2 11
Hyperekplexia 2 380 18 0 8 2 0 1 11
Hypertrophic cardiomyopathy 7 57 6 0 8 0 0 5 11
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 127 29 0 5 0 0 8 11
INSULIN RESISTANCE, DIGENIC 5 4 0 4 7 0 0 11
IQSEC2-related disorder 13 14 0 8 4 0 0 11
ITGA7-related disorder 10 9 0 8 6 0 1 11
Immunodeficiency 18 239 11 0 5 6 0 0 11
Immunodeficiency 67 300 13 0 4 5 0 2 11
Infantile nephronophthisis 260 22 0 6 4 0 1 11
Inflammatory bowel disease 25 231 10 0 3 8 0 0 11
Intellectual disability, autosomal dominant 9 96 12 0 10 0 0 1 11
KIF11-related disorder 6 14 0 11 0 0 0 11
L-2-hydroxyglutaric aciduria 225 24 0 5 4 0 2 11
LAMB3-related disorder 6 17 0 8 3 0 0 11
LARS2-related disorder 3 14 0 9 2 0 0 11
LIFR-related disorder 1 9 0 6 5 0 0 11
LRP4-related disorder 36 14 0 4 7 0 0 11
LRRK2-related disorder 24 4 0 11 1 0 0 11
Leber congenital amaurosis 5 243 39 0 7 4 0 0 11
Leber optic atrophy 53 17 0 7 0 0 4 11
Left ventricular noncompaction 1 532 25 0 5 2 0 4 11
Left ventricular noncompaction 8 1268 43 0 4 4 0 3 11
Left-right axis malformations 100 41 0 5 6 0 0 11
Leukoencephalopathy with calcifications and cysts 43 3 0 7 0 0 5 11
MAGI2-related disorder 11 14 0 9 4 0 0 11
MAPT-related disorder 22 10 0 6 7 0 1 11
MARS1-related disorder 7 6 0 5 6 0 0 11
MMUT-related disorder 1 13 0 7 5 0 0 11
MOGS-congenital disorder of glycosylation 504 24 0 6 4 0 1 11
MYH2-related disorder 26 12 0 6 4 0 1 11
MYLK2-related disorder 6 6 0 7 4 0 1 11
Meckel syndrome, type 3 112 3 0 10 0 0 1 11
Myopathy, myofibrillar, 9, with early respiratory failure 1827 325 0 4 6 0 1 11
NEDD4L-related disorder 8 15 0 10 1 0 0 11
NLRP1-related disorder 6 29 0 6 5 0 0 11
NTRK1-related disorder 10 9 0 7 5 0 0 11
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 253 12 0 7 0 0 7 11
Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset 19 23 0 7 1 0 3 11
Nephronophthisis 9 277 19 0 2 8 0 1 11
Neurodegeneration with brain iron accumulation 4 153 4 0 10 0 0 2 11
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 60 5 0 8 0 0 5 11
OTOA-related disorder 5 8 0 6 3 0 2 11
Oculocutaneous albinism type 4 82 12 0 7 0 0 5 11
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 118 24 0 5 1 0 5 11
PAH-related disorder 7 44 0 8 1 0 4 11
PCDH19-related disorder 9 8 0 8 5 0 0 11
PEX13-related disorder 24 7 0 2 9 0 1 11
PKLR-related disorder 9 9 0 5 4 0 4 11
PLCG2-related disorder 27 20 0 7 5 0 0 11
PRKDC-related disorder 14 20 0 6 6 0 0 11
PRRT2-Related Disorder 9 5 0 9 5 0 0 11
PTCH2-related disorder 42 21 0 7 4 0 0 11
PUS1-related disorder 2 8 0 8 3 0 0 11
PYCR1-related disorder 4 8 0 7 2 0 2 11
Parkinson disease 13, autosomal dominant, susceptibility to 24 13 0 5 7 0 0 11
Pelizaeus-Merzbacher disease 145 6 0 11 0 0 0 11
Polycystic liver disease 1 169 18 0 10 1 0 0 11
Primary ciliary dyskinesia 9 105 19 0 6 5 0 0 11
Proline dehydrogenase deficiency 308 10 0 3 5 0 8 11
Pulmonary hypertension, primary, 2 179 26 0 6 4 0 1 11
RBM20-related disorder 2 19 0 7 7 0 0 11
ROR2-related disorder 5 15 0 4 8 0 1 11
Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 326 38 0 6 5 0 0 11
Retinitis pigmentosa 3 220 19 0 10 0 0 1 11
SAMD11-related disorder 6 29 0 10 1 0 0 11
SCLT1-related disorder 17 37 0 4 7 0 1 11
SEMA3E-related disorder 171 29 0 1 10 0 0 11
SETD1B-related disorder 58 29 0 8 3 0 0 11
SH2B1-related disorder 179 82 0 4 7 0 0 11
SIPA1L3-related disorder 7 9 0 10 1 0 0 11
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 25 9 0 7 0 0 5 11
SORL1-related disorder 4 15 0 11 0 0 0 11
SPG7-related disorder 11 19 0 6 3 0 3 11
STXBP2-related disorder 24 7 0 6 5 1 0 11
SYNGAP1-related disorder 25 15 0 10 1 0 0 11
Short-rib thoracic dysplasia 11 with or without polydactyly 470 13 0 10 1 0 0 11
Snijders Blok-Campeau syndrome 188 11 0 5 0 0 7 11
Sucrase-isomaltase deficiency 461 41 0 9 1 0 2 11
TBXAS1-related disorder 3 6 0 7 5 0 1 11
TMPRSS3-related disorder 0 9 0 8 2 0 2 11
TRAP1-related disorder 9 14 0 5 9 0 0 11
TREX1-related disorder 13 12 1 9 2 0 1 11
TTC21B-related disorder 95 28 0 1 10 0 0 11
TUBB3-related disorder 8 9 0 10 4 0 0 11
Usher syndrome type 2C 525 27 0 8 2 0 3 11
VARS2-related disorder 4 6 0 9 2 0 2 11
VCP-related disorder 22 6 0 8 5 0 0 11
VIPAS39-related disorder 9 9 0 3 9 0 0 11
WDR19-related disorder 22 13 0 4 8 0 0 11
Wiedemann-Steiner syndrome 397 23 0 11 0 0 0 11
X-linked Emery-Dreifuss muscular dystrophy 534 25 0 4 6 0 1 11
Xeroderma pigmentosum, group G 106 17 0 5 5 0 2 11
ZFYVE26-related disorder 2 18 0 8 4 0 2 11
ZTTK syndrome 190 4 0 11 0 0 0 11
capecitabine response - Toxicity 0 0 0 0 0 11 0 11
3M syndrome 1 204 13 0 7 1 0 2 10
AARS1-related disorder 9 6 0 9 0 0 1 10
AARS2-related disorder 9 10 0 8 3 0 0 10
AIP-related disorder 2 13 0 2 9 1 0 10
ALG9-related disorder 20 5 0 4 7 0 0 10
AP3D1-related disorder 5 29 0 4 6 0 0 10
ATP13A2-related disorder 17 11 0 5 6 0 0 10
ATP2A1-related disorder 9 7 0 6 6 0 0 10
Abnormal central motor function 17 9 0 9 0 0 1 10
Aculeiform cataract 22 12 0 7 2 0 1 10
Aicardi-Goutieres syndrome 6 89 6 0 10 0 0 0 10
Astrocytoma IDH-mutant 16 3 9 2 1 0 0 10
Autosomal dominant epilepsy 15 5 0 6 0 0 5 10
Autosomal recessive nonsyndromic hearing loss 28 118 13 0 7 2 0 1 10
Autosomal recessive spinocerebellar ataxia 10 99 16 0 7 1 0 3 10
BLTP1-related disorder 45 25 0 5 5 0 0 10
BMPR1A-related disorder 6 11 0 4 7 0 0 10
BRSK2-related disorder 43 11 0 8 2 0 0 10
Bardet-Biedl syndrome 7 221 25 0 10 0 0 0 10
Bietti crystalline corneoretinal dystrophy 160 12 0 6 1 0 3 10
CARMIL2-related disorder 5 23 0 8 3 0 0 10
CEP250-related disorder 10 23 0 8 2 0 0 10
CFH-related disorder 3 13 1 8 3 0 0 10
CHRNA2-related disorder 6 6 0 8 3 0 0 10
COCH-related disorder 5 4 0 8 3 0 0 10
COL13A1-related disorder 6 22 0 7 3 0 0 10
COMP-related disorder 9 7 0 9 1 0 0 10
CPS1-related disorder 13 11 0 6 3 0 1 10
CTDP1-related disorder 7 20 0 6 4 0 0 10
CTNNB1-related disorder 14 15 0 9 2 0 0 10
CTR9-related disorder 4 14 0 7 3 0 0 10
CTU2-related disorder 14 22 0 5 6 0 0 10
CUX2-related disorder 27 20 0 9 1 0 0 10
Cataract 36 105 15 0 1 9 0 0 10
Charcot-Marie-Tooth disease axonal type 2F 300 17 0 5 2 0 3 10
Charcot-Marie-Tooth disease type 1C 194 20 0 4 4 0 2 10
Charcot-Marie-Tooth disease type 4C 591 20 0 7 1 0 3 10
Charcot-Marie-Tooth disease type 4J 85 6 0 4 0 0 8 10
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 471 18 0 6 3 0 1 10
Combined oxidative phosphorylation defect type 17 1030 24 0 5 2 0 4 10
Complement component 9 deficiency; Age related macular degeneration 15 1 1 0 6 3 0 1 10
Congenital sensory neuropathy with selective loss of small myelinated fibers 120 29 0 4 6 0 0 10
DDX3X-related disorder 11 5 0 8 1 0 1 10
DES-related disorder 8 7 0 6 7 0 0 10
DIAPH3-related disorder 6 12 0 6 5 0 0 10
DLC1-related disorder 14 35 0 5 5 0 0 10
DLL1-related disorder 12 16 0 8 4 0 0 10
DTNA-related disorder 12 10 0 8 5 0 0 10
Developmental and epileptic encephalopathy, 28 128 7 0 7 0 0 3 10
Developmental and epileptic encephalopathy, 32 415 20 0 7 1 0 2 10
Developmental and epileptic encephalopathy, 42 207 9 0 10 0 0 0 10
Dilated cardiomyopathy 1D 233 20 0 4 2 0 4 10
Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1 25 48 0 0 9 0 1 10
EPHA2-related disorder 23 4 0 6 4 0 1 10
EPS8-related disorder 2 11 0 6 5 0 0 10
ETFDH-related disorder 8 11 0 5 3 0 2 10
ETV6-related disorder 8 15 0 5 4 0 2 10
Erythrocytosis, familial, 3 532 18 0 3 6 0 1 10
F11-related disorder 6 10 0 8 3 0 2 10
F5-related disorder 28 6 0 5 4 0 1 10
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia 18 13 0 4 4 0 2 10
Familial renal glucosuria 225 23 0 5 2 0 4 10
Fanconi anemia complementation group F 165 30 0 4 4 0 2 10
Focal segmental glomerulosclerosis 4, susceptibility to 5 13 3 8 0 0 4 10
GABBR2-related disorder 3 11 0 8 1 0 1 10
GATA4-related disorder 26 17 0 6 5 0 0 10
GLIS3-related disorder 4 7 0 7 4 0 0 10
GPSM2-related disorder 4 5 0 4 7 0 0 10
GUCY2D-related disorder 20 4 0 1 9 0 0 10
Genetic non-acquired premature ovarian failure 61 2 0 5 0 0 6 10
Glycogen storage disease IIIa 7 4 0 10 0 0 0 10
Hemoglobin E 3 2 0 1 7 3 1 10
Hermansky-Pudlak syndrome 4 172 10 0 9 0 0 1 10
Herpes simplex encephalitis, susceptibility to, 3 369 35 0 4 7 0 1 10
Houge-Janssens syndrome 1 43 7 0 10 0 0 3 10
Hypercholesterolemia, autosomal dominant, type B 349 16 0 7 2 0 2 10
ITSN2-related disorder 39 29 0 6 4 0 0 10
Immunodeficiency due to CD25 deficiency 309 17 0 1 8 0 1 10
Inherited prostate cancer 5 12 0 6 5 0 0 10
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 110 3 0 7 0 0 3 10
Intellectual disability, autosomal dominant 57 78 8 0 8 0 0 4 10
KCNQ3-related disorder 15 5 0 7 2 0 1 10
KIAA1549-related disorder 6 24 0 7 3 0 0 10
KIF23-related disorder 3 9 0 7 4 0 0 10
KMT2C-related NDD 70 3 0 9 1 0 0 10
KRAS-related disorder 5 10 0 8 4 0 0 10
KSR2-related disorder 179 73 0 7 3 0 0 10
LAMB2-related disorder 35 11 0 2 7 1 0 10
LTBP4-related disorder 19 20 0 7 3 0 0 10
MPL-related disorder 19 11 0 5 5 0 0 10
MRTFA-related disorder 0 19 0 8 3 0 0 10
MTTP-related disorder 4 10 0 6 5 0 0 10
MYO1E-related disorder 8 12 0 5 6 0 0 10
Melanoma, cutaneous malignant, susceptibility to, 2 23 2 7 5 0 0 0 10
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 31 0 5 6 0 0 0 10
Methylcobalamin deficiency type cblG 994 18 0 4 3 0 3 10
Microcephaly 1, primary, autosomal recessive 196 39 0 6 3 0 1 10
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 693 19 0 5 0 0 5 10
Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 2 9 0 6 0 0 4 10
Myoclonic epilepsy of Lafora 1 16 12 0 7 2 0 1 10
NARS2-related disorder 4 2 0 5 4 0 1 10
NF2-related disorder 16 7 0 4 6 0 0 10
NFIA-Related Disorder 6 8 0 9 1 0 0 10
NSDHL-related disorder 4 4 0 10 1 0 0 10
NUP133-related disorder 9 15 0 10 0 0 0 10
Nemaline myopathy 8 462 24 0 6 3 0 2 10
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 183 7 0 9 0 0 1 10
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 45 13 0 7 2 0 1 10
OFD1-related disorder 29 11 0 5 5 0 0 10
OPHN1-related disorder 10 1 0 9 2 0 0 10
ORC1-related disorder 1 5 0 9 0 0 1 10
Oculocutaneous albinism type 1 19 3 0 9 1 0 1 10
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 323 108 0 0 10 0 0 10
Okur-Chung neurodevelopmental syndrome 60 9 0 10 0 0 0 10
PDE11A-related disorder 16 5 0 7 5 0 0 10
PDE6B-related disorder 2 14 0 7 2 0 3 10
PDE6C-related disorder 0 8 0 6 5 0 0 10
PEX26-related disorder 10 6 0 2 8 0 0 10
PROM1-related disorder 3 20 0 7 4 0 0 10
PTPRD-related disorder 29 15 0 8 2 0 0 10
PYGM-related disorder 11 9 0 5 6 0 2 10
Parkinson disease 17 149 20 0 4 6 0 0 10
Polycystic liver disease 2 229 13 0 8 2 0 0 10
Primary hypomagnesemia 138 15 0 7 0 0 3 10
Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 321 46 0 5 4 0 1 10
Progressive familial intrahepatic cholestasis type 3 124 11 0 6 1 0 3 10
Progressive myoclonic epilepsy 1262 7 0 5 4 0 2 10
Progressive pseudorheumatoid dysplasia 45 7 0 9 0 0 2 10
Pseudoxanthoma elasticum, forme fruste 50 6 0 9 0 0 1 10
Purine-nucleoside phosphorylase deficiency 249 17 0 6 3 0 1 10
RAB3GAP2-related disorder 12 9 0 5 6 0 0 10
RASA2-related disorder 9 13 0 7 4 0 0 10
RHOBTB2-related disorder 3 18 0 5 4 0 1 10
RRAS-related disorder 7 10 0 7 3 0 0 10
Respiratory ciliopathies including non-CF bronchiectasis 27 13 0 7 0 2 4 10
Retinitis pigmentosa 12 210 22 0 8 1 0 1 10
Retinitis pigmentosa 14 29 14 0 9 0 0 2 10
Rhizomelic chondrodysplasia punctata type 3 184 10 0 7 3 0 0 10
SCN11A-related disorder 16 6 0 9 2 0 0 10
SDHB-related disorder 11 12 0 9 1 0 1 10
SEC23B-related disorder 10 10 0 3 7 0 0 10
SEMA3C-related disorder 139 35 0 4 6 0 0 10
SEMA3D-related disorder 137 51 0 5 5 0 2 10
SH3PXD2B-related disorder 4 11 0 6 5 0 0 10
SLC45A2-related disorder 6 4 0 6 1 1 6 10
SLC6A8-related disorder 12 16 0 8 2 0 0 10
Seckel syndrome 1 376 58 0 8 2 0 0 10
Seizures, benign familial neonatal, 2 293 13 0 9 1 0 0 10
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 3 5 0 2 8 0 0 10
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 705 58 0 1 9 0 0 10
TBC1D8B-related disorder 13 4 0 6 4 0 0 10
TBCE-related disorder 4 10 0 6 5 0 0 10
TGM1-related disorder 2 15 0 9 2 0 1 10
TOPORS-related disorder 1 7 0 7 4 0 0 10
TRIM28-related disorder 2 11 0 9 1 0 0 10
TRMU-related disorder 15 23 0 3 7 0 1 10
TSHR-related disorder 9 9 0 8 2 0 1 10
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 9 6 0 8 3 0 1 10
Type IV short rib polydactyly syndrome 0 1 0 9 0 0 1 10
UCP3-related disorder 82 58 0 3 6 0 2 10
USH1G-related disorder 1 3 0 5 6 0 0 10
USP9X-related disorder 18 14 0 9 1 0 0 10
VLDLR-related disorder 1 12 0 7 5 0 0 10
Vitamin D-dependent rickets, type 1A 108 22 0 8 0 0 2 10
WNT10A-related disorder 13 3 0 2 3 0 5 10
X-linked lymphoproliferative disease due to XIAP deficiency 376 14 0 3 4 0 4 10
Xeroderma pigmentosum variant type 228 8 0 6 3 0 3 10
ZBTB20-related disorder 9 9 0 6 4 0 0 10
concomitant exotropia 2 0 0 0 0 0 10 10
8q24.3 microdeletion syndrome 83 5 0 8 0 0 2 9
ABCA13-related disorder 9 3 0 5 4 0 0 9
ADCY5-related disorder 5 7 0 4 5 0 0 9
ALDH5A1-related disorder 4 4 0 6 5 0 0 9
AMACR-related disorder 23 5 0 1 8 0 0 9
AMPD1-related disorder 6 1 0 5 8 2 2 9
ANKZF1-related disorder 4 23 0 7 2 0 0 9
AP5Z1-related disorder 11 5 0 6 3 0 0 9
APC2-related disorder 21 33 0 7 3 0 0 9
ARHGAP24-related disorder 6 10 0 6 4 0 0 9
ARPC1B-related disorder 0 9 0 8 1 0 0 9
ASXL2-related disorder 11 16 0 7 3 0 0 9
ATP1A1-related disorder 6 13 0 7 1 0 1 9
ATP6V0A2-related disorder 13 8 0 5 6 0 0 9
ATR-related disorder 9 42 0 8 3 0 0 9
Aarskog syndrome 79 6 0 7 1 0 2 9
Abnormality of the skeletal system 8 3 0 9 0 0 0 9
Agammaglobulinemia 2, autosomal recessive 219 18 0 3 4 0 3 9
Allan-Herndon-Dudley syndrome 87 13 0 9 0 0 1 9
Androgen resistance syndrome 163 21 0 9 1 0 0 9
Aniridia 1; Irido-corneo-trabecular dysgenesis 451 17 0 7 1 0 1 9
Aortic aneurysm, familial thoracic 6 438 17 0 3 3 0 3 9
Arrhythmogenic right ventricular dysplasia 8 269 9 0 3 6 0 0 9
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 93 6 0 8 0 0 1 9
Autoimmune lymphoproliferative syndrome type 2B 319 11 0 2 7 0 0 9
Autosomal recessive distal spinal muscular atrophy 1 183 21 0 8 0 0 1 9
Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 130 31 0 6 3 0 0 9
Autosomal recessive nonsyndromic hearing loss 84B 73 6 0 8 0 0 1 9
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 396 23 0 2 5 0 2 9
BBS10-related disorder 145 22 0 3 7 0 0 9
BCKDHA-related disorder 9 10 0 5 4 0 0 9
BICD2-related disorder 19 7 0 8 1 0 0 9
BRCA2-related cancer predisposition 964 27 0 2 6 0 1 9
BRD4-related disorder 14 18 0 9 0 0 0 9
BRWD3-related disorder 11 5 0 6 3 0 0 9
BTD-related disorder 10 11 0 7 3 0 1 9
Basal ganglia calcification, idiopathic, 7, autosomal recessive 37 2 0 4 0 0 5 9
Breast and colorectal cancer, susceptibility to 1 2 0 5 0 0 6 9
C7-related disorder 1 4 0 8 0 0 1 9
C9-related disorder 2 6 0 6 3 0 0 9
CDK4-related disorder 6 7 0 4 6 0 0 9
CDT1-related disorder 1 7 0 5 5 0 0 9
CELSR2-related disorder 22 29 0 4 5 0 0 9
CENPJ-related disorder 7 6 0 5 4 0 0 9
CPAMD8-related disorder 10 34 0 9 0 0 0 9
CPT1A-related disorder 13 11 0 3 4 0 2 9
CSF2RB-related disorder 1 21 0 6 2 0 1 9
CTNNA3-related disorder 9 9 0 6 3 0 0 9
Carnitine palmitoyl transferase II deficiency, severe infantile form 156 37 0 9 0 0 0 9
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 13 7 0 5 0 0 7 9
Charcot-Marie-Tooth disease axonal type 2N 99 6 0 5 2 0 2 9
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 26 17 0 6 1 0 2 9
Classic or attenuated familial adenomatous polyposis 1877 42 0 3 5 0 1 9
Cockayne syndrome type 1 118 4 0 6 0 0 3 9
Combined immunodeficiency due to CD3gamma deficiency 147 11 0 2 7 0 0 9
Congenital bile acid synthesis defect 2 109 2 0 5 0 0 4 9
Congenital central hypoventilation 62 15 0 5 2 0 2 9
Congenital contractures of the limbs and face, hypotonia, and developmental delay 98 7 0 7 0 0 2 9
Congenital heart disease 102 0 0 2 0 0 9 9
Cystic fibrosis diagnostic test 6 19 0 6 2 2 4 9
DNA2-related disorder 6 15 0 7 3 0 1 9
DNAH8-related disorder 40 18 0 1 8 0 0 9
DNAJC13-related disorder 16 12 0 9 0 0 0 9
DZIP1L-related disorder 13 12 0 9 0 0 0 9
Deep venous thrombosis 9 3 0 1 4 2 4 9
Deficiency of iodide peroxidase 152 25 0 5 1 0 3 9
Developmental and epileptic encephalopathy 991 15 0 8 0 0 1 9
Developmental and epileptic encephalopathy, 34 885 12 0 3 6 0 0 9
Differences in sex development 33 15 0 6 1 0 3 9
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 394 45 0 2 0 0 7 9
ELP1-related disorder 0 8 0 8 1 0 1 9
EPRS1-related disorder 4 16 0 9 0 0 0 9
ERBB4-related disorder 25 51 0 6 3 0 0 9
ERCC5-related disorder 6 7 0 9 1 0 0 9
Ectopic tissue 64 17 0 3 0 0 7 9
Ehlers-Danlos syndrome, classic type, 2 201 39 0 4 4 0 1 9
F12-related disorder 9 5 0 6 3 0 1 9
FIG4-related disorder 42 25 0 4 4 0 2 9
FKBP10-related disorder 4 13 0 7 2 0 1 9
FOXC1-related disorder 30 4 0 4 5 0 1 9
FYCO1-related disorder 22 1 0 8 0 0 1 9
Familial adenomatous polyposis 4 427 17 0 8 0 0 1 9
Familial intrahepatic cholestasis 1282 7 0 4 1 0 4 9
Frontotemporal dementia 319 14 0 5 1 0 3 9
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 697 35 0 3 6 0 0 9
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 436 14 0 5 2 0 2 9
GABRG2-related disorder 4 6 0 5 3 0 1 9
GARS1-related disorder 6 3 0 6 2 0 2 9
GATA2-related disorder 20 11 0 4 6 0 0 9
GFI1-related disorder 0 11 0 9 1 0 0 9
GNPTAB-mucolipidosis 56 4 0 9 0 0 0 9
GPD1-related disorder 1 3 0 5 3 0 1 9
GRIP1-related disorder 9 17 0 3 7 0 0 9
GRM6-related disorder 2 23 0 8 1 0 0 9
GSR-related disorder 3 7 0 9 0 0 0 9
Gallbladder disease 4; Sitosterolemia 1 0 5 0 3 7 0 0 9
Geleophysic dysplasia 1 136 18 0 3 5 0 1 9
Glutamate formiminotransferase deficiency 281 8 0 6 0 0 3 9
Growth delay due to insulin-like growth factor I resistance 475 7 0 1 0 4 4 9
HCFC1-related disorder 14 13 0 8 2 0 0 9
HECW2-related disorder 15 21 0 9 0 0 0 9
HK1-related disorder 10 19 0 6 2 0 1 9
HPS3-related disorder 3 11 0 5 5 0 0 9
Haddad syndrome 689 23 0 6 2 0 1 9
Hearing impairment 502 22 0 8 0 0 1 9
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 3 8 0 3 6 0 0 9
Hereditary intrinsic factor deficiency 113 14 0 2 7 0 0 9
Heterotaxy, visceral, 4, autosomal 304 11 0 6 1 0 3 9
Heterotaxy, visceral, 5, autosomal 113 10 0 4 3 0 4 9
Holoprosencephaly 3 390 22 0 5 1 0 4 9
Houge-Janssens syndrome 2 36 1 0 6 0 0 3 9
Hyperinsulinemic hypoglycemia, familial, 2 81 5 0 5 3 0 1 9
Hyperphosphatasia with intellectual disability syndrome 4 31 5 0 8 0 0 2 9
Hypertrophic cardiomyopathy 14 1984 16 0 3 5 0 2 9
Hypertrophic cardiomyopathy 8 41 6 0 3 2 0 7 9
Hypogonadotropic hypogonadism 7 with or without anosmia 147 9 0 7 0 0 2 9
IFT27-related disorder 14 27 0 2 7 0 0 9
ITGA2B-related disorder 28 8 0 5 3 0 1 9
Immunodeficiency, common variable, 1 171 6 0 1 8 0 0 9
Immunodeficiency, common variable, 10 765 24 0 4 5 0 1 9
Infantile-onset X-linked spinal muscular atrophy 559 25 0 3 4 0 2 9
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 1214 6 0 3 5 0 1 9
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 216 20 0 8 0 0 1 9
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 213 28 0 8 0 0 1 9
JAG2-related disorder 35 17 0 7 2 0 0 9
Joubert syndrome 21 1066 45 0 4 4 0 1 9
Junctional epidermolysis bullosa, non-Herlitz type 239 49 0 5 1 0 3 9
KCNJ10-related disorder 0 5 0 6 6 0 0 9
Kleefstra syndrome 2 303 7 0 5 2 0 2 9
LBR-related disorder 3 9 0 9 2 0 0 9
LCT-related disorder 7 16 0 9 0 0 0 9
LMX1B-related disorder 11 13 0 5 4 0 0 9
LOX-related disorder 5 11 0 7 2 0 0 9
LPIN2-related disorder 6 7 0 7 3 0 0 9
Leukocyte adhesion deficiency 3 536 8 0 6 2 0 1 9
Loeys-Dietz syndrome 2 924 24 0 3 2 0 5 9
Lowe syndrome 682 17 0 3 4 0 2 9
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 193 17 0 3 5 0 1 9
MAN1B1-related disorder 10 3 0 3 6 0 0 9
MAP2K1-related disorder 5 8 0 8 1 0 0 9
MCM2-related disorder 5 21 0 8 1 0 0 9
MGAT2-congenital disorder of glycosylation 95 9 0 3 5 0 1 9
MHC class I deficiency 1187 27 0 5 3 0 1 9
MLC1-related disorder 1 4 0 5 4 0 0 9
MRPS22-related disorder 5 1 0 8 3 0 0 9
MYO6-related disorder 18 8 0 4 5 0 2 9
MYO7B-related disorder 70 9 0 3 6 0 0 9
MYT1L-related disorder 22 11 0 9 0 0 0 9
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 252 30 0 0 8 0 1 9
Maple syrup urine disease type 1B 156 21 0 9 0 0 0 9
Mast syndrome 92 5 0 3 5 0 1 9
Meckel syndrome, type 4 180 6 0 7 2 0 0 9
Microcephaly 9, primary, autosomal recessive 138 6 0 4 4 0 1 9
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 32 2 0 6 0 0 4 9
Multiple congenital anomalies-hypotonia-seizures syndrome 2 257 13 0 5 1 0 6 9
NAXD-related disorder 3 8 0 9 0 0 0 9
NCAPG2-related disorder 13 9 0 7 2 0 0 9
NLRP2-related disorder 57 26 0 7 2 0 0 9
NPHS2-related disorder 3 10 2 6 0 0 3 9
NUP188-related disorder 33 14 0 8 1 0 0 9
NUP205-related disorder 10 14 0 4 5 0 0 9
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 1050 96 0 2 6 0 1 9
Nephrotic syndrome 174 1 1 6 0 0 2 9
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 93 2 0 5 1 0 3 9
Neuronal ceroid lipofuscinosis 10 82 8 0 6 2 0 1 9
Orofacial-digital syndrome IV; Joubert syndrome 18 461 8 0 8 1 0 0 9
P3H1-related disorder 20 10 0 3 6 0 0 9
P4HB-related disorder 6 3 0 9 0 0 0 9
PAX3-related disorder 15 7 0 8 1 0 0 9
PDE4D-related disorder 15 4 0 8 2 0 0 9
PEX10-related disorder 33 12 0 0 9 0 0 9
PGK1-related disorder 5 3 0 8 2 0 0 9
PHKB-related disorder 13 7 0 3 6 0 0 9
PIK3R2-related disorder 27 6 0 7 3 0 0 9
PMM2-related disorder 14 14 0 7 2 0 0 9
PROC-related disorder 19 6 0 4 4 0 1 9
PTPRQ-related disorder 32 6 0 4 5 0 0 9
Paediatric disorders 51 14 0 2 6 0 1 9
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 58 30 0 9 0 0 0 9
Perry syndrome 100 4 0 0 5 0 4 9
Primary ciliary dyskinesia 10 75 9 0 5 4 0 0 9
Primary ciliary dyskinesia 14 150 24 0 7 2 0 0 9
Primary erythromelalgia 198 14 0 1 6 0 3 9
Pulmonary arterial hypertension associated with congenital heart disease 15 1 0 2 2 0 5 9
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 16 11 0 8 0 0 1 9
RIPK4-related disorder 14 5 0 8 1 0 0 9
RUNX1-related disorder 29 16 0 5 4 0 0 9
SALL4-Related Disorders 32 7 0 5 5 0 0 9
SCN1B-related disorder 3 6 0 8 2 0 0 9
SEMA3G-related disorder 227 49 0 0 9 0 0 9
SGCA-related disorder 5 3 0 0 6 0 3 9
SGSH-related disorder 12 8 0 6 3 0 0 9
SIX5-related disorder 17 19 0 4 6 0 0 9
SKI-related disorder 15 13 0 6 3 0 0 9
SLC12A1-related disorder 6 10 0 7 2 0 1 9
SLC12A6-related disorder 2 14 0 6 3 0 1 9
SLC26A1-related disorder 5 11 0 6 1 0 2 9
SLC37A4-related disorder 15 7 0 2 7 0 2 9
SLC7A9-related disorder 13 8 0 8 0 0 2 9
SOD1-related disorder 19 12 0 7 0 0 3 9
STRC-related disorder 12 10 0 2 5 0 2 9
Schuurs-Hoeijmakers syndrome 735 14 0 3 6 0 0 9
Septo-optic dysplasia sequence; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES 61 8 0 0 3 0 6 9
Skeletal muscle channelopathy 12 5 0 9 0 0 1 9
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2334 28 0 8 0 0 2 9
TBK1-related disorder 46 18 0 7 2 0 1 9
TBX3-related disorder 220 10 0 3 6 0 0 9
TEX15-related disorder 21 6 0 9 0 0 0 9
THBD-related disorder 3 6 0 7 4 0 0 9
TNFRSF1A-related disorder 17 4 0 7 1 0 1 9
TNNT2-related disorder 2 10 0 8 3 0 1 9
TPM1-related disorder 4 6 0 7 2 0 0 9
TREM2-related disorder 2 9 0 4 5 0 1 9
TTBK2-related disorder 0 3 0 8 2 0 0 9
TTR-related disorder 1 1 0 8 4 0 0 9
TULP1-related disorder 2 7 0 5 4 0 2 9
UNC13D-related disorder 24 13 0 5 4 0 0 9
USH1C-related disorder 8 19 0 6 5 0 0 9
Ulnar-mammary syndrome 428 23 0 5 5 0 0 9
Unverricht-Lundborg syndrome 22 14 0 4 4 0 2 9
VPS13C-related disorder 18 36 0 7 2 0 0 9
Vitamin D-dependent rickets type II with alopecia 207 19 0 4 2 0 3 9
WRN-related disorder 39 12 0 2 8 0 0 9
WWOX-related disorder 8 8 0 6 4 0 0 9
ZFHX4-related disorder 46 10 0 5 4 0 0 9
ZNF292-related disorder 49 12 0 9 0 0 0 9
ABCB1-related disorder 12 4 0 6 0 5 0 8
ABCB6-related disorder 6 5 0 6 3 1 2 8
ABHD12-related disorder 6 6 0 3 7 0 0 8
ABL1-related disorder 6 14 0 7 1 0 0 8
ACOX2-related disorder 24 29 0 1 6 0 1 8
ACTB-related disorder 20 12 0 7 0 0 1 8
ADGRA3-related disorder 3 13 0 5 3 0 0 8
AHI1-related disorder 20 9 0 2 6 0 0 8
ALAS2-related disorder 2 8 0 6 2 0 0 8
ALDH7A1-related disorder 2 7 0 4 3 0 2 8
ALDOB-related disorder 22 13 0 1 7 0 0 8
ALPK1-related disorder 5 5 0 7 1 0 0 8
ANKH-related disorder 3 5 0 6 2 0 0 8
ANO6-related disorder 8 5 0 4 2 0 2 8
AP3B1-related disorder 11 6 0 3 6 0 0 8
AP4E1-related disorder 3 10 0 5 4 0 0 8
ARHGEF1-related disorder 1 10 0 6 2 0 0 8
ARHGEF28-related disorder 90 25 0 2 6 0 0 8
ARMC5-related disorder 61 15 0 6 2 0 0 8
ATP8A2-related disorder 2 4 0 6 2 0 0 8
ATXN3-related disorder 4 0 0 6 2 0 0 8
AXL-related disorder 8 6 0 5 3 0 0 8
Alternating hemiplegia of childhood 2 89 36 0 7 1 0 0 8
Amyotrophic lateral sclerosis type 15 182 5 0 3 3 0 4 8
Aortic valve disease 2 1235 10 0 1 1 0 7 8
Aromatase deficiency 170 13 0 5 3 0 0 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1614 11 0 4 2 0 2 8
Autosomal dominant limb-girdle muscular dystrophy type 1G 413 21 0 2 6 0 0 8
Autosomal dominant nonsyndromic hearing loss 3A 88 16 0 4 1 0 3 8
Autosomal dominant polycystic kidney disease 1111 12 0 7 1 0 0 8
Autosomal recessive bestrophinopathy 46 4 0 6 0 0 2 8
Autosomal recessive congenital ichthyosis 10 93 9 0 5 1 0 2 8
Autosomal recessive multiple pterygium syndrome 69 15 0 6 0 0 2 8
Autosomal recessive nonsyndromic hearing loss 16 68 14 0 5 0 0 3 8
BBS4-related disorder 149 15 0 1 6 0 1 8
BBS7-related disorder 106 15 0 4 3 0 1 8
BCL11B-related disorder 12 18 0 5 3 0 1 8
BDP1-related disorder 8 14 0 3 6 0 0 8
BICC1-related disorder 1 5 0 6 2 0 0 8
BLK-related disorder 14 8 0 4 6 0 1 8
BPTF-related disorder 25 26 0 7 1 0 0 8
Basal laminar drusen 132 38 0 7 0 0 1 8
Bosch-Boonstra-Schaaf optic atrophy syndrome 77 8 0 7 0 0 1 8
Brain small vessel disease 1 with or without ocular anomalies 280 32 0 5 3 0 0 8
Brain small vessel disease 2A, autosomal dominant 272 16 0 5 1 0 3 8
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 103 18 0 2 4 0 2 8
Brown-Vialetto-van Laere syndrome 1 402 15 0 3 0 0 5 8
Brugada syndrome 5 535 12 0 3 5 0 0 8
C5-related disorder 3 13 0 4 4 0 1 8
CACNA1I-related disorder 53 14 0 5 3 0 0 8
CACNA2D4-related disorder 2 13 0 4 2 0 2 8
CARS2-related disorder 7 8 0 4 5 0 0 8
CAVIN1-related disorder 2 5 0 4 7 0 0 8
CDK12-related disorder 1 13 0 8 0 0 0 8
CEP104-related disorder 19 7 0 8 0 0 0 8
CLPB-related disorder 16 11 0 3 3 0 2 8
CNGA3-related disorder 1 20 0 6 2 0 2 8
CP-related disorder 15 8 0 3 6 0 1 8
CRPPA-related disorder 1 1 0 2 7 0 0 8
CSF3R-related disorder 21 7 0 6 5 0 0 8
CTC1-related disorder 24 15 0 2 5 0 1 8
CUL9-related disorder 48 2 0 6 2 0 0 8
CYP2U1-related disorder 2 1 0 5 1 0 2 8
Cataract 22 multiple types 51 9 0 4 5 0 0 8
Cataract 5 multiple types 108 6 0 6 2 0 0 8
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 245 7 0 5 0 0 3 8
Combined oxidative phosphorylation deficiency 35 24 3 0 4 0 0 4 8
Complex cortical dysplasia with other brain malformations 5 28 2 0 6 0 0 4 8
Congenital dyserythropoietic anemia, type II 90 9 0 6 0 0 2 8
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 118 7 0 5 0 0 4 8
Congenital microvillous atrophy 363 10 0 5 0 0 3 8
Congenital primary aphakia 11 6 0 5 0 0 3 8
Corticosteroids response 33 0 0 0 0 8 0 8
Cowden syndrome 642 17 0 6 1 0 2 8
DSG1-related disorder 3 25 0 8 0 0 0 8
Death in infancy 1 0 0 1 0 0 8 8
Decreased circulating alkaline phosphatase activity 6 2 0 1 1 0 6 8
Decreased circulating carnitine concentration 62 24 0 2 1 0 5 8
Developmental and epileptic encephalopathy, 8 386 10 0 3 4 0 1 8
Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 333 9 0 0 8 0 0 8
Dilated cardiomyopathy 1S 215 9 0 5 1 0 2 8
Distal arthrogryposis type 5D 72 7 0 5 0 0 4 8
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 13 0 3 0 6 0 8
Dyschromatosis universalis hereditaria 1 9 0 0 6 0 0 2 8
Dystonia 16 117 14 0 5 3 0 0 8
EGF-related disorder 2 11 0 6 2 0 0 8
EPM2A-related disorder 4 1 0 4 5 0 0 8
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612 15 0 1 6 0 1 8
Epilepsy, idiopathic generalized, susceptibility to, 11 5 5 0 2 2 0 4 8
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 698 38 0 5 3 0 0 8
FANCL-related disorder 7 1 0 3 5 0 2 8
FASTKD2-related disorder 5 2 0 4 4 0 0 8
FAT3-related disorder 61 23 0 5 3 0 0 8
FGG-related disorder 5 4 0 3 3 4 3 8
GCDH-related disorder 10 6 0 4 1 0 3 8
Gaze palsy, familial horizontal, with progressive scoliosis 1 132 10 0 8 0 0 0 8
Gilbert syndrome 69 1 0 5 2 4 4 8
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 4 16 0 7 0 0 1 8
HOXB13-related disorder 3 29 0 5 2 2 0 8
HPS6-related disorder 3 14 0 6 2 0 0 8
HSD3B7-related disorder 20 11 0 4 4 0 1 8
Hereditary sensory and autonomic neuropathy with spastic paraplegia 277 27 0 2 6 0 1 8
Hyper-IgM syndrome type 1 278 8 0 5 0 0 3 8
Hyperornithinemia 1 6 0 7 0 0 1 8
Hypoparathyroidism, deafness, renal disease syndrome 194 12 0 6 1 0 1 8
INTS1-related disorder 22 10 0 4 4 0 0 8
ITGA3-related disorder 14 14 0 5 3 0 0 8
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 363 34 0 3 4 0 1 8
Infantile hypophosphatasia 140 8 0 8 0 0 0 8
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 67 11 0 7 0 0 1 8
Infantile-onset ascending hereditary spastic paralysis 792 14 0 5 0 0 3 8
Intellectual disability, X-linked syndromic, Turner type 218 10 0 7 1 0 0 8
Intellectual disability-severe speech delay-mild dysmorphism syndrome 163 13 0 5 0 0 4 8
Joubert syndrome 2 75 13 0 5 3 0 1 8
Junctional epidermolysis bullosa gravis of Herlitz 524 28 0 8 0 0 0 8
KANK4-related disorder 11 19 0 4 4 0 0 8
KARS1-related disorder 11 11 0 6 1 0 1 8
KCNB1-related disorder 11 7 0 6 3 0 0 8
KCNC3-related disorder 2 1 0 8 1 0 0 8
KIF26B-related disorder 51 25 0 6 3 0 0 8
Left ventricular hypertrophy 4 3 0 0 6 0 2 8
Leukodystrophy, hypomyelinating, 18 11 1 0 6 0 0 3 8
Long QT syndrome 6 99 6 1 1 5 0 3 8
MAN2B1-related disorder 13 8 0 3 5 0 0 8
MAPK8IP3-related disorder 32 18 0 7 1 0 0 8
MAPT-Related Spectrum Disorders 71 25 0 3 6 0 1 8
MASP2-related disorder 9 3 0 4 5 0 1 8
MBTPS1-related disorder 1 15 0 8 0 0 0 8
MFN2-related disorder 17 3 0 6 2 0 0 8
MID1-related disorder 7 6 0 7 1 0 1 8
MOCS1-related disorder 14 6 0 5 6 0 0 8
MPDU1-congenital disorder of glycosylation 65 9 0 2 5 0 2 8
MPV17-related disorder 6 7 0 4 4 0 0 8
MYOT-related disorder 3 2 0 6 3 0 0 8
Maturity-onset diabetes of the young type 8 137 8 0 3 1 0 5 8
Meckel syndrome, type 6 171 7 0 7 0 0 1 8
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 207 10 0 1 6 0 1 8
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 84 8 0 4 4 0 0 8
Microphthalmia with brain and digit anomalies; Orofacial cleft 11 141 35 0 0 7 0 1 8
Mitochondrial complex I deficiency 183 8 0 4 2 0 2 8
Mitochondrial complex I deficiency, nuclear type 1 766 22 0 5 2 0 1 8
Mitochondrial complex I deficiency, nuclear type 16 79 8 0 6 1 0 1 8
Mitochondrial complex I deficiency, nuclear type 4 47 6 0 4 0 0 4 8
Multiple mitochondrial dysfunctions syndrome 1 107 8 0 2 4 0 2 8
Myopathy, lactic acidosis, and sideroblastic anemia 1 89 7 0 4 4 0 0 8
NEXN-related disorder 2 15 0 4 4 0 1 8
NFATC1-related disorder 9 28 0 7 1 0 0 8
NLGN4X-related disorder 14 6 0 6 2 0 0 8
NSD2-related disorder 17 14 0 8 0 0 0 8
Neonatal-onset encephalopathy with rigidity and seizures 1145 13 0 2 4 0 2 8
Nephrotic syndrome, type 4 114 11 0 8 0 0 0 8
Nephrotic syndrome, type 9 34 9 0 7 0 0 2 8
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 61 10 0 4 0 0 5 8
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 170 9 0 6 0 0 2 8
Neurofibromatosis, type 1; Tibial pseudarthrosis 13 18 0 6 1 0 1 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 13 8 0 3 3 0 5 8
Nonsyndromic Oculocutaneous Albinism 22 2 0 8 0 0 0 8
Noonan syndrome 4 379 48 0 6 0 0 2 8
Oculocutaneous albinism type 3 84 10 0 6 1 0 1 8
Osteogenesis imperfecta type 6 72 14 0 4 3 0 1 8
P2RX2-related disorder 6 9 0 5 3 0 0 8
PCCB-related disorder 13 7 0 2 5 0 1 8
PDGFRB-related disorder 47 11 0 7 1 0 0 8
PEX12-related disorder 16 5 0 4 3 0 1 8
PIGG-related disorder 15 6 0 6 2 0 0 8
PIGO-related disorder 4 7 0 3 5 0 0 8
PITPNM3-related disorder 3 9 0 5 4 0 0 8
PLEKHG2-related disorder 3 11 0 3 4 0 1 8
PLOD2-related disorder 5 3 0 5 3 0 1 8
PLXND1-related disorder 24 28 0 7 3 0 0 8
PNPLA6-related disorder 17 5 0 7 2 0 1 8
PRICKLE1-related disorder 2 8 0 8 3 0 0 8
PRKAR1B-related disorder 3 11 0 7 0 0 1 8
PSTPIP1-related disorder 12 4 0 6 3 0 0 8
Partial adenosine deaminase deficiency 0 0 0 3 0 0 7 8
Patterned macular dystrophy 1 92 8 0 8 0 0 0 8
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 439 8 0 3 3 0 2 8
Possible mitochondrial disorder - nuclear genes 7 7 0 3 1 0 6 8
Primary ciliary dyskinesia 13 109 17 0 6 2 0 0 8
Primary ciliary dyskinesia 23 478 29 0 6 2 0 0 8
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1; Benign recurrent intrahepatic cholestasis type 1 10 6 0 3 1 0 4 8
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 102 9 0 3 3 0 2 8
RBP3-related disorder 3 12 0 4 4 0 0 8
RHBDF2-related disorder 2 6 0 7 2 0 0 8
RIMS1-related disorder 5 11 0 4 6 0 0 8
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 30 6 0 6 0 0 2 8
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 193 13 0 6 0 0 2 8
Retinitis pigmentosa 14; Leber congenital amaurosis 15 14 8 0 8 0 0 2 8
Retinitis pigmentosa 45 120 12 0 6 0 0 3 8
Rhizomelic chondrodysplasia punctata type 1 110 13 0 8 0 0 0 8
Rhizomelic chondrodysplasia punctata type 2 99 14 0 5 1 0 2 8
SCN3A-related disorder 11 32 0 4 5 0 0 8
SHH-related disorder 33 12 0 4 4 0 1 8
SHROOM4-related disorder 15 7 0 3 5 0 0 8
SIM1-related disorder 157 43 0 6 3 0 0 8
SLCO1B1-related disorder 3 3 0 8 0 1 0 8
SMAD3-related disorder 11 11 0 4 5 0 0 8
SMARCB1-related disorder 9 15 0 4 5 0 0 8
SOX3-related disorder 8 3 0 2 6 0 0 8
SPRED1-related disorder 2 5 0 7 1 0 0 8
STXBP1-related disorder 11 9 0 7 1 0 0 8
SUFU-related disorder 13 9 0 5 5 0 0 8
SYNM-related disorder 38 4 0 0 8 0 0 8
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 10 58 0 3 4 0 1 8
Spastic ataxia 2 520 11 0 4 4 0 2 8
Spinocerebellar ataxia type 14 90 24 0 3 1 0 4 8
Spinocerebellar ataxia type 35 99 10 0 2 3 0 4 8
Spondylocostal dysostosis 1, autosomal recessive 85 20 0 4 4 0 0 8
Sudden cardiac failure, infantile 22 0 0 7 0 0 2 8
Susceptibility to severe COVID-19 44 0 1 0 0 0 8 8
Susceptibility to severe coronavirus disease (COVID-19) 4 3 0 0 3 4 3 8
TBCK-related disorder 7 18 0 6 2 0 0 8
TCF4-related disorder 15 9 0 6 5 0 0 8
TELO2-related disorder 2 8 0 6 2 0 1 8
TENM3-related disorder 14 9 0 7 1 0 0 8
TET2-related disorder 10 21 0 5 5 0 0 8
TGFBR1-related disorder 8 10 0 3 7 0 0 8
THAP11-related disorder 0 7 0 8 0 0 0 8
TINF2-related disorder 10 6 0 6 2 0 1 8
TMPRSS6-related disorder 12 7 0 3 5 0 0 8
TNFAIP3-related disorder 5 9 0 5 4 0 0 8
TOE1-related disorder 2 3 0 5 4 0 0 8
TYMP-related disorder 1 12 0 7 1 0 0 8
Thrombomodulin-related bleeding disorder 118 1 0 0 4 0 4 8
Thyroid dyshormonogenesis 6; Familial thyroid dyshormonogenesis 3 4 0 7 1 0 0 8
Transient Neonatal Diabetes, Dominant/Recessive 1 2 0 4 4 0 1 8
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5 3 13 0 6 2 0 0 8
UBR1-related disorder 9 19 0 5 3 0 0 8
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 426 115 0 0 8 0 0 8
WDR37-related disorder 11 1 0 5 3 0 0 8
WDR81-related disorder 14 17 0 5 3 0 0 8
Weaver syndrome 510 13 0 1 4 0 3 8
Wiedemann-Rautenstrauch-like progeroid syndrome 3 2 0 7 0 0 1 8
Wolcott-Rallison dysplasia 221 32 0 4 4 0 0 8
XIRP1-related disorder 35 22 0 4 4 0 0 8
ZNF423-related disorder 25 10 0 5 3 0 0 8
fluorouracil response - Other 5 1 0 0 0 8 0 8
3MC syndrome 1 117 8 0 2 5 0 0 7
ABCA7-related disorder 30 10 0 3 3 0 1 7
ABCB7-related disorder 1 4 0 7 1 0 0 7
ACADS-related disorder 19 6 0 6 1 0 0 7
ACAN-related disorder 18 20 0 3 4 0 1 7
ACO2-related disorder 5 13 0 2 4 0 3 7
ACTN4-related disorder 27 11 0 6 2 0 0 7
ACY1-related disorder 3 3 0 6 1 0 0 7
ADGRE2-related disorder 10 12 0 5 3 0 0 7
AFF2-related disorder 9 5 0 5 2 0 0 7
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 219 15 0 5 2 0 1 7
AIPL1-related disorder 16 1 0 3 5 0 1 7
AIRE-related disorder 31 15 0 3 3 0 1 7
AP4M1-related disorder 8 2 0 2 5 0 0 7
ARX-related disorder 18 7 0 2 6 0 0 7
ATN1-related disorder 13 8 0 7 1 0 0 7
ATP13A3-related disorder 7 7 0 7 0 0 0 7
ATP1A2-related disorder 28 18 0 5 2 0 0 7
ATP2B4-related disorder 9 10 0 5 3 0 0 7
Abnormal cerebral morphology 26 7 0 4 0 0 4 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
Abnormality of metabolism/homeostasis 17 14 0 6 0 0 2 7
Aicardi-Goutieres syndrome 1 53 9 0 4 0 0 3 7
Anemia, congenital dyserythropoietic, type 1a 243 18 0 4 2 0 1 7
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 529 16 0 2 3 0 2 7
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 6 10 0 4 3 0 0 7
Autosomal dominant nonsyndromic hearing loss 12 188 10 0 5 1 0 1 7
Autosomal recessive POLG-related disorders 0 3 0 7 0 0 2 7
Autosomal recessive juvenile Parkinson disease 2 168 16 0 5 1 0 1 7
Autosomal recessive nonsyndromic hearing loss 18A 117 6 0 5 1 0 1 7
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 44 29 0 6 1 0 0 7
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 28 4 0 7 0 0 0 7
B3GLCT-related disorder 4 2 0 3 4 0 0 7
BACH2-related disorder 4 16 0 7 0 0 0 7
Bardet-Biedl syndrome 5 94 5 0 6 0 0 1 7
Blau syndrome 171 34 0 2 5 0 2 7
Breast-ovarian cancer, familial, susceptibility to, 2; Hereditary breast ovarian cancer syndrome 3 5 0 3 0 0 5 7
C1S-related disorder 3 14 0 5 2 0 0 7
CAMK2B-related disorder 4 14 0 6 1 0 0 7
CARD11-related disorder 20 13 0 5 2 0 0 7
CCBE1-related disorder 9 10 0 4 2 0 1 7
CDH1-related diffuse gastric and lobular breast cancer syndrome 370 8 0 1 6 0 0 7
CDH3-related disorder 6 15 0 4 3 0 0 7
CHD3-related disorder 50 19 0 4 2 0 1 7
CILK1-related disorder 3 4 0 6 1 0 0 7
CNOT1-related disorder 18 20 0 6 1 0 0 7
CNOT3-related disorder 16 10 0 7 0 0 0 7
CSMD3-related disorder 54 19 0 7 0 0 0 7
CTCF-related disorder 12 6 0 5 3 0 0 7
CTSD-related disorder 5 2 0 3 5 0 0 7
Capillary malformation-arteriovenous malformation 2 72 5 0 3 0 0 4 7
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 282 7 0 4 1 0 2 7
Cataract 12 multiple types 57 11 0 2 4 0 1 7
Cataract 17 multiple types 58 4 0 2 4 0 1 7
Cataract 19 multiple types 56 4 0 2 5 0 0 7
Cerebellar atrophy, visual impairment, and psychomotor retardation; 62 2 0 4 0 0 3 7
Cerebral cavernous malformation 2 219 26 0 5 1 0 1 7
Charcot-Marie-Tooth disease axonal type 2Z 813 26 0 6 0 0 1 7
Charcot-Marie-Tooth disease type 2A2 88 16 0 5 0 0 4 7
Charcot-Marie-Tooth disease type 4D 193 30 0 5 2 0 0 7
Cockayne syndrome type 2 280 12 0 6 1 0 0 7
Combined oxidative phosphorylation defect type 20 54 5 0 6 0 0 3 7
Complex cortical dysplasia with other brain malformations 1 38 8 0 5 0 0 3 7
Cone dystrophy 4 100 6 0 5 2 0 0 7
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 67 19 0 0 6 0 1 7
Congenital multicore myopathy with external ophthalmoplegia 540 31 0 4 0 0 3 7
Congenital myotonia, autosomal dominant form 74 8 0 5 0 0 2 7
Congenital primary aphakia; Anterior segment dysgenesis 390 5 0 4 0 0 3 7
Congenital stationary night blindness 1C 171 13 0 5 1 0 2 7
Cornelia de Lange syndrome 5 277 14 0 3 2 0 3 7
DACT1-related disorder 12 3 0 6 2 0 0 7
DHTKD1-related disorder 8 11 0 6 1 0 1 7
DHX38-related disorder 0 7 0 6 1 0 0 7
DIP2C-related disorder 7 23 0 7 0 0 0 7
DISP1-related disorder 13 14 0 3 4 0 0 7
DMBT1-related disorder 33 6 0 5 2 0 0 7
DRD4-related disorder 16 5 0 4 3 0 1 7
DVL3-related disorder 8 10 0 4 3 0 0 7
DYM-related disorder 7 5 0 3 4 0 2 7
Delayed puberty 9 0 0 4 0 0 4 7
Developmental and epileptic encephalopathy, 69 226 26 0 7 0 0 0 7
Diabetes mellitus, permanent neonatal 4 16 1 0 2 0 0 5 7
Dilated and arrhythmogenic cardiomyopathy 2 1 0 4 0 0 5 7
Dyskeratosis congenita, X-linked 44 22 0 5 1 0 2 7
Dystonia 28, childhood-onset 106 4 0 4 0 0 3 7
EDA-related disorder 15 2 0 7 0 0 0 7
EPS8L2-related disorder 11 10 0 2 5 0 0 7
ESCO2-related disorder 3 10 0 5 3 0 0 7
EXT2-related disorder 37 6 0 2 7 0 0 7
EYA4-related disorder 5 8 0 5 4 0 0 7
Epilepsy, childhood absence, susceptibility to, 6 39 24 0 2 4 0 1 7
FAH-related disorder 23 20 0 1 6 0 1 7
FANCB-related disorder 22 7 0 3 6 0 0 7
FBXO11-related disorder 5 11 0 5 2 0 0 7
FBXW7-related disorder 14 5 0 5 2 0 0 7
FDXR-related disorder 12 10 0 5 2 0 1 7
FGD4-related disorder 3 4 0 7 1 0 0 7
FOXI1-related disorder 0 11 0 6 1 0 0 7
FUCA1-related disorder 4 3 0 5 2 0 0 7
Facioscapulohumeral muscular dystrophy 2 1305 7 0 2 3 0 2 7
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 109 28 0 3 4 0 0 7
Foveal hypoplasia 1 102 7 0 6 1 0 0 7
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 126 13 0 2 3 0 2 7
GABRA1-related disorder 3 1 0 6 5 0 0 7
GATA5-related disorder 3 14 0 5 3 0 0 7
GBA1-related disorder 3 7 2 3 2 1 2 7
GJB1-related disorder 2 3 0 4 2 0 2 7
GJB3-related disorder 1 8 0 6 4 0 0 7
GPRASP2-related disorder 11 3 0 1 6 0 0 7
GRIN2D-related disorder 18 13 0 5 2 0 0 7
Gaucher disease type I 97 13 0 7 0 0 1 7
Glaucoma 3A 139 21 0 6 1 0 2 7
Glutaric acidemia type 2A 49 11 0 3 2 0 2 7
Glycosylphosphatidylinositol biosynthesis defect 15 28 2 0 5 0 0 2 7
Goldmann-Favre syndrome 36 9 0 3 3 0 1 7
HADHA-related disorder 22 15 0 2 4 0 1 7
HNSHA due to aldolase A deficiency 229 34 0 4 3 0 0 7
HOMER2-related disorder 7 4 0 6 2 0 0 7
HYOU1-related disorder 1 18 0 4 3 0 0 7
Hearing loss, autosomal recessive 57 33 3 0 6 0 0 1 7
Hemoglobin H disease, nondeletional 0 4 0 2 0 7 1 7
Hemolytic anemia due to glucophosphate isomerase deficiency 109 7 0 6 0 0 2 7
Hereditary angioedema type 1 303 13 0 5 0 0 2 7
Hereditary diffuse leukoencephalopathy with spheroids 156 20 0 5 2 0 0 7
Hereditary neuropathy or pain disorder 4 6 0 6 1 0 0 7
Hereditary orotic aciduria, type 1 50 11 0 4 2 0 1 7
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2662 14 0 1 4 0 2 7
Hereditary spastic paraplegia 31 352 9 0 4 1 0 2 7
Hereditary spastic paraplegia 56 38 3 0 4 0 0 3 7
Hereditary spastic paraplegia 6 278 15 0 3 3 0 1 7
Hereditary spherocytosis type 4 155 4 0 5 0 0 3 7
Hermansky-Pudlak syndrome 6 101 6 0 5 0 0 2 7
Hurler syndrome 209 16 0 3 2 1 1 7
Hypercalcemia, infantile, 2 39 1 0 5 1 0 3 7
Hyperinsulinemic hypoglycemia, familial, 4 56 0 1 2 3 0 1 7
Hypertrophic cardiomyopathy 2 272 24 0 5 1 0 1 7
Hypomyelinating leukodystrophy 10 32 4 0 4 0 0 3 7
Hypomyelinating leukodystrophy 11 29 11 0 4 0 0 3 7
Hypothyroidism due to TSH receptor mutations 119 10 0 6 0 0 1 7
Hypothyroidism, congenital, nongoitrous, 2 113 9 0 0 7 0 0 7
Hypotrichosis 8 13 1 0 7 0 0 1 7
IHH-related disorder 3 4 0 5 3 0 1 7
IL6ST-related disorder 3 18 0 6 1 0 0 7
IMPG2-related disorder 2 11 0 3 5 0 1 7
INS-related disorder 9 5 0 3 3 0 1 7
ITGB3-related disorder 3 23 0 4 2 0 1 7
Immunodeficiency 83, susceptibility to viral infections 7 3 0 1 0 0 6 7
Intellectual developmental disorder with autism and macrocephaly 225 8 0 5 0 0 2 7
Intellectual disability, autosomal dominant 24 67 1 0 5 0 0 2 7
Intellectual disability, autosomal recessive 42 286 10 0 6 1 0 0 7
Isolated microphthalmia 3 102 7 0 1 6 0 0 7
Joubert syndrome 5 195 29 0 5 2 0 0 7
KATNB1-related disorder 5 16 0 7 1 0 0 7
KCNK4-related disorder 2 4 0 6 1 0 0 7
KCNQ4-related disorder 7 4 0 6 2 0 0 7
KDM6A-related disorder 40 12 0 6 1 0 0 7
KRT74-related disorder 1 5 0 7 0 0 0 7
Kufor-Rakeb syndrome 129 17 0 4 3 0 0 7
LAMP2-related disorder 6 5 0 6 5 0 0 7
LIPE-related disorder 9 10 0 4 3 0 0 7
LMNB2-related disorder 5 7 0 5 2 0 0 7
LRPPRC-related disorder 7 26 0 4 5 0 0 7
Lamb-Shaffer syndrome 100 11 0 7 0 0 1 7
Leber congenital amaurosis 12 207 15 0 1 6 0 0 7
Left ventricular noncompaction 10 160 8 0 2 3 0 2 7
Lipoic acid synthetase deficiency 347 14 0 1 3 0 3 7
Lissencephaly type 1 due to doublecortin gene mutation 44 14 0 4 0 0 3 7
Long QT syndrome 3 237 17 0 4 2 0 2 7
MASP1-related disorder 18 7 0 3 4 0 0 7
MBD4-related disorder 2 10 0 3 2 0 2 7
MBTPS2-related disorder 5 1 0 6 1 0 0 7
MERTK-related disorder 1 11 0 5 4 0 0 7
MHC class II deficiency 1 12 7 0 6 1 0 0 7
MMACHC-related disorder 3 9 0 3 5 0 0 7
MTRR-related disorder 6 2 0 4 3 0 0 7
MYBPC1-related disorder 9 3 0 4 3 0 0 7
MYO16-related disorder 30 20 0 5 2 0 0 7
MYO5A-related disorder 8 11 0 4 3 0 0 7
MYO9A-related disorder 16 9 0 2 5 0 0 7
MYOM2-related disorder 96 7 0 3 4 0 0 7
MYSM1-related disorder 1 13 0 5 2 0 0 7
Male infertility with spermatogenesis disorder 8 2 0 3 0 0 7 7
Meier-Gorlin syndrome 7 11 2 0 5 0 0 2 7
Microcephaly, seizures, and developmental delay 92 11 0 3 3 0 1 7
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 152 12 0 6 0 0 1 7
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 49 3 0 5 1 0 1 7
Multiple congenital anomalies-hypotonia-seizures syndrome 3 229 11 0 5 1 0 1 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 946 20 0 6 0 0 1 7
Myasthenic syndrome, congenital, 22 659 20 0 5 1 0 1 7
Myofibrillar myopathy 4 1161 9 0 3 3 0 1 7
Myopathy, RYR1-associated 1 2 0 3 0 0 7 7
NACC1-related disorder 8 17 0 6 0 0 1 7
NAV2-related disorder 33 9 0 3 4 0 0 7
NCSTN-related disorder 3 4 0 6 1 0 0 7
NDUFS2-related disorder 2 5 0 6 2 0 0 7
NHLRC1-related disorder 0 1 0 2 5 0 1 7
NR1H4-related disorder 14 9 0 0 7 0 0 7
NRAS-related disorder 5 4 0 6 2 0 0 7
NRP2-related disorder 234 49 0 2 5 0 0 7
NUP160-related disorder 16 15 0 4 3 0 0 7
NUP93-related disorder 15 10 0 6 0 0 1 7
Nemaline myopathy 10 381 17 0 3 2 0 2 7
Nephronophthisis 14 793 45 0 4 1 0 2 7
Netherton syndrome 233 42 0 5 2 0 0 7
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 102 0 0 3 0 0 4 7
Noonan syndrome 5 110 3 0 5 2 0 0 7
O'Donnell-Luria-Rodan syndrome 143 3 0 7 0 0 0 7
OAS1-related disorder 7 5 0 4 3 0 0 7
Obesity due to melanocortin 4 receptor deficiency 7 3 0 6 0 0 2 7
Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 14 8 0 6 0 0 1 7
Oocyte maturation defect 4 17 2 0 3 0 0 4 7
PC-related disorder 17 10 0 4 2 0 1 7
PDE6A-related disorder 1 8 0 2 4 0 2 7
PEPD-related disorder 1 9 0 7 0 0 0 7
PEX19-related disorder 13 3 0 1 6 0 0 7
PEX7-related disorder 21 11 0 1 6 0 0 7
PITRM1-related disorder 4 22 0 7 1 0 0 7
PLCB1-related disorder 12 4 0 4 3 0 0 7
PLVAP-related disorder 0 5 0 6 1 0 0 7
POLA1-related disorder 7 10 0 5 2 0 0 7
POMT2-related disorder 8 5 0 3 4 0 1 7
POT1-related disorder 11 11 0 3 5 0 0 7
PRDM5-related disorder 0 10 0 4 3 0 0 7
PRKD1-related disorder 15 7 0 6 2 0 0 7
PRKN-related disorder 1 1 0 6 1 0 0 7
PROS1-related disorder 25 7 0 5 3 0 1 7
PRR12-related disorder 60 31 0 7 0 0 0 7
PRX-related disorder 14 18 0 4 5 0 0 7
PSEN2-related disorder 13 4 0 2 4 0 1 7
PTPRO-related disorder 16 10 0 6 1 0 0 7
PXDN-related disorder 19 1 0 4 3 0 0 7
Parkinson disease 5, autosomal dominant, susceptibility to 18 9 0 3 4 0 0 7
Parkinson disease, late-onset 105 3 3 2 1 0 1 7
Patterned dystrophy of the retinal pigment epithelium 21 2 0 7 0 0 0 7
Peroxisome biogenesis disorder 11A (Zellweger) 526 15 0 0 7 0 0 7
Phytanic acid storage disease 74 14 0 7 1 0 0 7
Pigmented paravenous retinochoroidal atrophy 178 20 0 6 0 0 1 7
Pituitary hormone deficiency, combined, 1 56 2 0 5 0 0 2 7
Poirier-Bienvenu neurodevelopmental syndrome 77 4 0 4 0 0 3 7
Primary ciliary dyskinesia 6 335 15 0 1 2 0 4 7
Progressive cone dystrophy (without rod involvement) 4 2 0 2 3 0 2 7
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 80 11 0 4 0 0 3 7
Protoporphyria, erythropoietic, 1 50 3 0 5 1 0 4 7
Pyruvate dehydrogenase E2 deficiency 217 13 0 7 0 0 1 7
Pyruvate kinase deficiency of red cells 127 7 0 4 1 0 2 7
QARS1-related disorder 4 6 0 3 5 0 0 7
RAPSN-related disorder 9 6 0 3 3 0 2 7
RARS2-related disorder 1 6 0 5 1 0 2 7
RIPOR2-related disorder 7 12 0 4 3 0 0 7
RMRP-related disorder 8 10 0 1 5 0 1 7
RNF31-related disorder 1 8 0 3 5 0 0 7
ROBO2-related disorder 23 17 0 7 1 0 0 7
RRM2B-related disorder 5 5 0 5 2 0 2 7
Reclassified - variant of unknown significance 2 0 0 0 5 1 4 7
Retinal cone dystrophy 4 173 6 0 4 2 0 1 7
Retinitis pigmentosa 1 122 14 0 6 0 0 2 7
Retinitis pigmentosa 43 69 10 0 7 0 0 0 7
Roifman syndrome 12 2 0 7 0 0 2 7
SBF2-related disorder 17 6 0 5 3 0 3 7
SCAPER-related disorder 65 23 0 6 1 0 0 7
SCARB2-related disorder 3 6 0 3 6 0 0 7
SCNN1B-related disorder 8 9 0 6 2 0 0 7
SCP2-related disorder 2 16 0 4 4 0 0 7
SDHC-related disorder 9 8 0 3 4 0 0 7
SETD1A-related disorder 47 7 0 4 3 0 0 7
SLC12A2-related disorder 14 2 0 4 3 0 0 7
SLC19A3-related disorder 4 1 0 4 3 0 1 7
SLC22A12-related disorder 1 1 0 4 1 0 2 7
SLC24A1-related disorder 2 9 0 4 4 0 0 7
SLC25A22-related disorder 1 1 0 7 5 0 0 7
SLC26A3-related disorder 2 11 0 7 0 0 0 7
SLC6A1-related disorder 20 12 0 5 2 0 1 7
SNX14-related disorder 5 4 0 5 3 0 0 7
SOX11-related disorder 7 12 0 5 3 0 0 7
SPAST-related disorder 14 6 0 5 1 0 2 7
SPEN-related disorder 82 34 0 6 1 0 0 7
SPTBN1-related disorder 28 2 0 6 0 0 1 7
SPTBN5-related disorder 39 9 0 1 7 0 0 7
SQSTM1-related disorder 52 29 0 3 4 0 0 7
SRP72-related disorder 9 29 0 1 6 0 0 7
STARD9-related disorder 42 10 0 0 7 0 0 7
STIL-related disorder 3 4 0 1 7 0 0 7
STS-related disorder 1 1 0 7 0 0 0 7
Seizure; Hypotonia; Neurodevelopmental Disability 2 0 0 7 0 0 0 7
Septo-optic dysplasia sequence 20 8 0 0 3 0 4 7
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 13 0 0 4 0 0 3 7
Severe neonatal-onset encephalopathy with microcephaly 1076 14 0 1 3 0 3 7
Shwachman-Diamond syndrome 1 43 13 0 4 0 0 3 7
Somatotroph adenoma 140 22 0 2 5 0 1 7
Spermatogenic failure 28; Premature ovarian failure 15 199 78 0 1 6 0 0 7
Spinocerebellar ataxia type 19/22 349 6 0 2 2 0 3 7
Spinocerebellar ataxia type 29 49 5 0 3 0 0 4 7
Sponastrime dysplasia 54 0 0 7 0 0 1 7
Spondyloenchondrodysplasia with immune dysregulation 294 13 0 3 1 0 3 7
Sudden unexplained death 7 14 0 4 4 1 0 7
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 105 10 0 6 0 0 2 7
Surfactant metabolism dysfunction, pulmonary, 2 60 3 0 3 3 0 1 7
Susceptibility to nonsyndromic otitis media 8 2 0 0 4 0 3 7
Syndromic neurodevelopmental disorder 14 2 0 4 0 0 3 7
TANGO2-related disorder 6 9 0 4 3 0 0 7
TBX2-related disorder 13 7 0 6 1 0 0 7
TBX5-related disorder 8 15 0 5 3 0 0 7
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 28 2 0 6 1 0 2 7
TIAM1-related disorder 37 9 0 5 2 0 0 7
TMPO-related disorder 5 9 0 4 3 0 0 7
TNK2-related disorder 11 2 0 4 3 0 0 7
TNNI3-related disorder 3 3 0 5 0 0 2 7
TOP3A-related disorder 5 19 0 5 2 0 0 7
TPO-related disorder 8 7 0 7 0 0 0 7
TPP1-related disorder 0 11 0 3 3 0 1 7
TRDN-related disorder 8 8 0 5 2 0 0 7
TRIP11-related disorder 10 14 0 1 6 0 0 7
TRPC5-related disorder 92 15 0 1 6 0 0 7
TRPC6-related disorder 10 8 0 5 2 0 0 7
TSHZ1-related disorder 29 16 0 2 5 0 0 7
TTC8-related disorder 129 14 0 4 5 0 1 7
Tatton-Brown-Rahman overgrowth syndrome 604 15 0 3 0 0 4 7
Testosterone 17-beta-dehydrogenase deficiency 56 12 0 7 0 0 0 7
Tooth agenesis, selective, 4 68 3 0 2 3 0 3 7
Ullrich congenital muscular dystrophy 1A 160 5 0 6 0 0 2 7
WNK1-related disorder 21 7 0 3 4 0 0 7
Warsaw breakage syndrome 67 4 0 6 0 0 1 7
Wolman disease 475 11 0 5 0 0 2 7
X-linked agammaglobulinemia with growth hormone deficiency 627 9 0 3 4 0 0 7
X-linked chondrodysplasia punctata 1 49 8 0 4 1 0 2 7
XDH-related disorder 22 8 0 2 4 0 1 7
XRCC2-related disorder 1 10 0 5 4 0 0 7
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 36 14 0 5 0 0 2 7
von Willebrand disease type 3 236 10 0 4 1 0 2 7
warfarin response - Dosage 2 0 0 0 0 7 0 7
3M syndrome 2 257 28 0 2 2 0 2 6
ADA-related disorder 10 7 0 4 3 0 1 6
ADAMTS18-related disorder 2 29 0 4 2 0 1 6
ADAMTS9-related disorder 7 28 0 4 2 0 0 6
AGT-related disorder 4 6 0 6 1 0 0 6
AGXT-related disorder 3 11 0 5 2 0 0 6
AK2-related disorder 8 3 0 4 2 0 0 6
ALDH18A1-related disorder 16 20 0 2 2 0 2 6
ALG1-related disorder 20 8 0 2 3 0 2 6
ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 285 4 0 3 2 0 1 6
ALG8-related disorder 25 8 0 2 4 0 0 6
AP3B2-related disorder 3 18 0 4 2 0 0 6
ARHGEF18-related disorder 0 23 0 6 0 0 0 6
ARID2-related disorder 20 8 0 6 0 0 0 6
Adult polyglucosan body disease 73 11 0 4 0 0 2 6
Adult polyglucosan body disease; Glycogen storage disease, type IV 33 8 0 4 0 0 2 6
Alacrima, achalasia, and intellectual disability syndrome 96 3 0 5 1 0 1 6
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 1305 21 0 3 3 0 0 6
Associated with severe COVID-19 disease 3 2 0 0 4 1 1 6
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 175 14 0 4 2 0 0 6
Atrioventricular septal defect, susceptibility to, 2 107 1 0 1 0 0 5 6
Autism spectrum disorder due to AUTS2 deficiency 149 3 0 4 1 0 2 6
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 189 7 0 4 1 0 1 6
Autosomal dominant limb-girdle muscular dystrophy type 1F 590 36 0 0 5 0 1 6
Autosomal dominant nonsyndromic hearing loss 2A 84 17 0 4 0 0 2 6
Autosomal dominant optic atrophy classic form 191 14 0 4 0 0 2 6
Autosomal recessive axonal neuropathy with neuromyotonia 88 3 0 5 0 0 2 6
Autosomal recessive congenital ichthyosis 5 108 10 0 4 0 0 2 6
Autosomal recessive limb-girdle muscular dystrophy type 2L 73 10 0 6 0 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2Y 358 47 0 3 2 0 1 6
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 139 25 0 4 0 0 2 6
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 129 3 0 1 1 0 5 6
BBIP1-related disorder 21 16 0 0 6 0 0 6
BBS2-related disorder 165 24 0 2 4 0 0 6
BCS1L-related disorder 11 10 0 4 1 0 2 6
BIRC6-related disorder 52 23 0 6 0 0 0 6
BLOOD GROUP--LUTHERAN INHIBITOR 6 2 0 1 2 1 3 6
BUB1-related disorder 1 3 0 4 2 0 0 6
Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 2 0 0 1 5 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome 1 5 0 3 0 0 5 6
Breast-ovarian cancer, familial, susceptibility to, 5 203 23 3 3 0 0 0 6
C8B-related disorder 1 5 0 5 1 0 0 6
CABIN1-related disorder 24 21 0 5 1 0 0 6
CACNA2D1-related disorder 5 9 0 5 1 0 0 6
CACNB2-related disorder 8 7 0 6 2 0 0 6
CAPN12-related disorder 27 15 0 4 2 0 0 6
CCDC78-related disorder 10 4 0 5 1 0 0 6
CEBPA-related disorder 24 9 0 5 2 0 0 6
CEDNIK syndrome 132 3 0 6 0 0 0 6
CENPE-related disorder 9 12 0 4 3 0 0 6
CEP120-related disorder 19 7 0 4 3 0 0 6
CEP78-related disorder 2 7 0 5 1 0 1 6
CETP-related disorder 2 5 0 5 1 0 0 6
CFAP418-related disorder 25 24 0 0 4 0 2 6
CFAP43-related disorder 20 1 0 3 5 0 0 6
CFAP44-related disorder 11 4 0 6 0 0 0 6
CHAT-related disorder 11 2 0 4 2 0 0 6
CHCHD10-related disorder 15 8 0 5 1 0 0 6
CHD7-related CHARGE syndrome 51 8 0 3 1 0 3 6
CHMP1A-related disorder 1 5 0 5 2 0 0 6
CHRNB2-related disorder 6 0 0 4 3 0 0 6
CLASP1-related disorder 18 9 0 1 4 0 1 6
CNGA1-related disorder 3 4 0 5 2 0 0 6
CNNM4-related disorder 2 6 0 5 1 0 0 6
COG5-related disorder 16 9 0 4 2 0 0 6
COL10A1-related disorder 5 7 0 4 3 0 0 6
COQ2-related disorder 6 13 0 1 4 0 1 6
COQ6-related disorder 2 7 0 3 4 0 0 6
COQ8B-related disorder 2 8 0 3 5 0 0 6
CPA1-related disorder 0 4 0 4 2 0 0 6
CR2-related disorder 21 8 0 5 2 0 0 6
CRB1-related disorder 19 11 0 5 1 0 2 6
CREB3L1-related disorder 2 6 0 5 1 0 0 6
CRYGD-related disorder 4 5 0 3 2 0 1 6
CSPP1-related disorder 25 7 0 3 3 0 0 6
CTCF-related neurodevelopmental disorder 83 12 0 3 1 0 2 6
CTNND2-related disorder 13 11 0 6 1 0 0 6
CYP11B2-related disorder 12 4 0 5 0 0 2 6
CYP7A1-related disorder 17 15 0 1 6 0 0 6
Candidiasis, familial, 6 151 7 0 1 5 0 1 6
Cardiac, facial, and digital anomalies with developmental delay 37 1 0 3 0 0 3 6
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 58 9 0 6 0 0 0 6
Charcot-Marie-Tooth disease type 4F 151 14 0 4 1 0 1 6
Chudley-McCullough syndrome 82 5 0 6 1 0 0 6
Combined oxidative phosphorylation defect type 7 36 8 0 2 4 0 0 6
Combined oxidative phosphorylation defect type 7; Spastic paraplegia 93 8 0 2 4 0 0 6
Combined oxidative phosphorylation deficiency 55 54 2 0 2 0 0 4 6
Cone dystrophy with supernormal rod response 120 6 0 4 1 3 0 6
Congenital disorder of glycosylation, type Iw, autosomal dominant 11 1 0 3 0 0 3 6
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 515 8 0 4 0 0 2 6
Cowden syndrome 6 475 15 0 5 1 0 0 6
Creatine deficiency syndrome 1 44 31 0 2 4 0 0 6
DCAF17-related disorder 8 2 0 1 5 0 0 6
DENND5A-related disorder 2 7 0 5 1 0 0 6
DIS3L2-related disorder 49 18 0 3 3 0 0 6
DLX6-related disorder 6 5 0 2 4 0 0 6
DOCK2 deficiency 1111 19 0 1 5 0 0 6
DOCK2-related disorder 11 7 0 2 4 0 0 6
DOCK7-related disorder 16 5 0 3 3 0 0 6
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 241 16 0 2 3 0 1 6
DSCAML1-related disorder 6 46 0 5 1 0 0 6
DYRK1A-related disorder 10 7 0 5 1 0 0 6
Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4 3 1 0 1 4 0 1 6
Deficiency of cytochrome-b5 reductase 52 3 0 5 0 0 2 6
Developmental and epileptic encephalopathy, 64 46 5 0 5 0 0 1 6
Developmental and epileptic encephalopathy, 75 12 2 0 2 0 0 6 6
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 3 13 0 5 1 0 0 6
Diamond-Blackfan anemia 8 166 20 0 3 3 0 0 6
Dilated cardiomyopathy 1AA 135 5 0 2 3 0 1 6
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 4 0 4 0 2 2 6
Dyskeratosis congenita, autosomal recessive 3 64 16 0 4 2 0 0 6
EBP-related disorder 0 2 0 6 0 0 1 6
EFTUD2-related disorder 8 15 0 4 1 0 1 6
EIF2AK3-related disorder 3 10 0 3 3 0 0 6
EMD-related disorder 1 2 0 5 1 0 0 6
EML1-related disorder 6 8 0 3 3 0 0 6
EPCAM-related disorder 14 15 0 5 2 0 0 6
EYA1-related disorder 20 14 0 3 3 0 0 6
Ehlers-Danlos syndrome progeroid type 305 9 0 2 2 0 2 6
Epidermodysplasia verruciformis, susceptibility to, 1 25 0 1 1 4 0 0 6
Episodic ataxia type 2 153 13 0 5 0 0 1 6
F9-related disorder 17 8 0 5 0 0 1 6
FAM111A-related disorder 7 5 0 4 1 0 1 6
FANCI-related disorder 24 8 0 3 3 0 0 6
FARS2-related disorder 10 4 0 5 1 0 0 6
FDFT1-related disorder 18 10 0 4 2 0 0 6
FERMT3-related disorder 7 4 0 4 4 0 0 6
FG syndrome 1568 24 0 0 2 0 4 6
FG syndrome 1 62 25 0 0 2 0 4 6
FGA-related disorder 23 9 0 4 0 1 2 6
FLT4-related disorder 53 6 0 4 1 0 1 6
FRMPD4-related disorder 16 9 0 5 1 0 0 6
Familial apolipoprotein C-II deficiency 42 2 0 5 1 0 0 6
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 337 17 0 6 0 0 0 6
Familial encephalopathy with neuroserpin inclusion bodies 333 25 0 4 2 0 0 6
Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 18 1 0 1 5 0 0 6
Febrile seizures, familial, 8 14 12 0 3 0 0 4 6
Flurbiprofen response 0 0 0 0 0 6 0 6
G6PC1-related disorder 4 2 0 5 2 0 0 6
GAS2L2-related disorder 22 6 0 2 4 0 0 6
GEMIN4-related disorder 13 15 0 3 4 0 0 6
GFAP-related disorder 7 11 0 4 2 0 0 6
GH1-related disorder 4 2 0 4 2 0 0 6
GIGYF2-related disorder 18 8 0 2 3 0 1 6
GLMN-related disorder 1 2 0 6 0 0 0 6
GMPPB-related disorder 12 5 0 5 1 0 0 6
GNE-related disorder 9 7 0 0 6 0 0 6
GP6-related disorder 0 8 0 5 1 0 0 6
GPC3-related disorder 17 9 0 4 3 0 0 6
GSDME-related disorder 2 2 0 5 3 0 0 6
GYG2-related disorder 0 4 0 2 4 0 0 6
Galloway-Mowat syndrome 1 113 11 0 2 2 0 2 6
Glaucoma 1, open angle, G 2 8 0 3 2 0 2 6
Glaucoma 3, primary congenital, E 19 2 0 5 0 0 1 6
Global developmental delay with or without impaired intellectual development 115 2 0 6 0 0 0 6
Glucocorticoid deficiency with achalasia 83 8 0 5 0 0 1 6
HCN1-related disorder 16 5 0 5 2 0 0 6
HEPACAM-related disorder 2 9 0 4 4 0 0 6
Hawkinsinuria; Tyrosinemia type III 343 4 0 6 0 0 0 6
Hereditary spastic paraplegia 10 126 6 0 4 1 0 1 6
Hereditary spastic paraplegia 46 38 4 0 5 1 0 0 6
Hermansky-Pudlak syndrome 5 144 12 0 5 1 0 1 6
Hirschsprung disease, susceptibility to, 3 64 17 0 3 2 0 3 6
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Inborn error of immunity 6 0 0 2 1 0 3 6
Holoprosencephaly 4 80 5 0 4 1 0 4 6
Hydrocephalus, nonsyndromic, autosomal recessive 2 89 7 0 4 1 0 2 6
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 170 6 0 2 3 0 2 6
Hyperekplexia 1 87 15 0 3 2 0 2 6
Hypertrophic cardiomyopathy 19 322 11 0 4 1 0 1 6
Hypomyelinating leukodystrophy 2 62 8 0 3 0 0 3 6
Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 128 21 0 1 3 0 2 6
Hypophosphatemic rickets, autosomal recessive, 1 94 21 0 3 3 0 0 6
IARS1-related disorder 5 11 0 6 0 0 0 6
IDUA-related disorder 13 9 0 1 4 0 1 6
IL17RD-related disorder 9 6 0 5 0 0 1 6
IVD-related disorder 12 4 0 3 1 0 2 6
Incidental Discovery 20 8 0 4 0 0 2 6
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 129 22 0 5 1 0 1 6
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 23 2 0 6 0 0 0 6
Infantile liver failure syndrome 2 60 3 0 6 0 0 0 6
Inflammatory bowel disease 1 134 3 1 1 4 0 3 6
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 89 2 0 4 0 0 3 6
Intellectual disability, autosomal dominant 39 107 7 0 6 0 0 1 6
Intellectual disability, autosomal dominant 42 48 7 0 6 0 0 0 6
Intellectual disability, autosomal dominant 50 115 6 0 5 0 0 1 6
Intellectual disability, autosomal recessive 65 85 0 0 4 1 0 1 6
JAK2-related disorder 18 22 1 4 2 0 0 6
Joubert syndrome 6 119 12 0 4 0 0 2 6
Joubert syndrome 9 185 20 0 4 0 0 3 6
KDM1A-related disorder 7 8 0 4 2 0 0 6
KNL1-related disorder 19 9 0 2 2 0 2 6
KRT2-related disorder 3 6 0 4 0 0 2 6
Karyomegalic interstitial nephritis 199 6 0 5 0 0 1 6
LHCGR-related disorder 5 3 0 3 3 0 0 6
LIG1-related disorder 2 16 0 4 2 0 0 6
LPIN1-related disorder 6 17 0 5 1 0 0 6
Lambdoidal craniosynostosis 15 5 0 4 0 0 4 6
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 633 31 0 6 0 0 1 6
Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 34 14 0 5 0 0 1 6
Lesinurad response 0 0 0 0 0 6 0 6
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 108 15 0 5 1 0 0 6
Low phospholipid associated cholelithiasis 91 9 0 2 0 0 4 6
MADD-related disorder 29 6 0 5 2 0 1 6
MAMLD1-related disorder 8 0 0 5 1 0 0 6
MDN1-related disorder 100 10 0 2 4 0 0 6
MECR-related disorder 1 3 0 6 0 0 0 6
MED17-related disorder 1 4 0 5 2 0 0 6
MEF2C-related disorder 6 7 0 5 1 0 0 6
MEGF10-related disorder 11 8 0 5 1 0 0 6
MEGF8-related Carpenter syndrome 676 16 0 4 2 0 0 6
MESP2-related disorder 0 7 0 4 3 0 0 6
MLPH-related disorder 4 11 0 5 2 0 0 6
MPO-related disorder 10 2 0 5 1 0 0 6
MYOC-related disorder 5 3 0 5 2 0 2 6
Macrocephaly-developmental delay syndrome 130 9 0 4 0 0 2 6
Malignant hyperthermia of anesthesia 186 6 0 4 0 0 2 6
Mandibulofacial dysostosis-microcephaly syndrome 131 10 0 5 0 0 2 6
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 212 47 0 5 1 0 0 6
Metaphyseal chondrodysplasia, Schmid type 132 6 0 5 0 0 1 6
Microcephaly 4, primary, autosomal recessive 126 6 0 0 4 0 3 6
Microscopic hematuria 1 2 0 1 3 0 2 6
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 62 15 0 2 0 0 4 6
Mitochondrial complex I deficiency, nuclear type 21 29 1 0 4 0 0 4 6
Mitochondrial complex III deficiency nuclear type 1 43 5 0 4 0 0 2 6
Miyoshi muscular dystrophy 1 352 13 0 5 0 0 2 6
Muscular dystrophy, limb-girdle, autosomal recessive 27 21 0 0 2 0 0 5 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 155 10 0 4 1 0 2 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 65 6 0 5 0 0 1 6
Myeloperoxidase deficiency 15 2 0 4 1 0 2 6
Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 4 10 0 1 5 0 0 6
NAGLU-related disorder 11 8 0 3 3 0 0 6
NCAPD3-related disorder 38 8 0 4 2 0 0 6
NCOR1-related disorder 27 13 0 5 1 0 0 6
NFE2L2-related disorder 3 8 0 4 2 0 0 6
NLRP5-related disorder 28 10 0 6 1 0 0 6
NOS1-related disorder 19 14 0 4 2 0 0 6
NR2E3-related disorder 3 18 0 6 0 0 0 6
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 22 2 0 5 0 0 1 6
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 28 0 0 4 0 0 3 6
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 505 8 0 4 1 0 1 6
Neuronal ceroid lipofuscinosis 13 142 8 0 3 2 0 1 6
Nicolaides-Baraitser syndrome 227 13 0 5 0 0 2 6
Nonsyndromic cleft lip palate 5 0 0 0 0 0 6 6
Noonan syndrome-like disorder with loose anagen hair 1 77 6 0 5 1 0 1 6
Nuclear pulverulent cataract 37 8 0 3 0 0 3 6
Odonto-onycho-dermal dysplasia 66 8 0 3 2 0 1 6
Ogden syndrome 25 7 0 5 0 0 1 6
PCDH12-related disorder 1 8 0 6 0 0 0 6
PCK2-related disorder 7 9 0 4 2 0 0 6
PDX1-related disorder 13 8 0 5 1 0 1 6
PDZD2-related disorder 78 9 0 2 5 0 0 6
PEX2-related disorder 10 5 0 1 5 0 0 6
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 170 9 0 5 0 0 1 6
PIGV-related disorder 1 3 0 4 1 0 2 6
PIK3C2A-related disorder 0 15 0 4 2 0 0 6
PIKFYVE-related disorder 13 4 0 6 0 0 0 6
PLOD1-related disorder 11 13 0 2 4 0 0 6
PLXNB1-related disorder 38 9 0 5 1 0 0 6
PODXL-related disorder 4 16 0 5 1 0 0 6
POR-related disorder 23 6 0 1 5 0 0 6
PPP1R15B-related disorder 0 4 0 2 4 0 0 6
PRKAR1A-related disorder 11 9 0 4 1 0 1 6
PTPRC-related disorder 7 6 0 3 5 0 0 6
PTPRT-related disorder 22 22 0 5 1 0 0 6
PURA-related disorder 10 3 0 5 2 0 0 6
Parkinson Disease, Dominant 54 11 0 3 3 0 0 6
Parkinson disease 11, autosomal dominant, susceptibility to 10 6 0 2 1 0 3 6
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 68 10 0 3 2 0 1 6
Pigmentary skin disorders 5 7 0 3 2 2 3 6
Piroxicam response 0 0 0 0 0 6 0 6
Pityriasis rubra pilaris; Psoriasis 2 1213 9 0 4 2 0 0 6
Primary ciliary dyskinesia 27 200 13 0 4 1 0 1 6
Primary ciliary dyskinesia 30 313 17 0 4 0 0 2 6
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 89 56 0 0 6 0 0 6
Pulmonary hypertension, primary, 4 195 28 0 3 3 0 0 6
RAB11B-related disorder 2 5 0 6 0 0 0 6
RAB23-related Carpenter syndrome 95 4 0 3 3 0 0 6
RFWD3-related disorder 3 9 0 3 4 0 0 6
RINT1-related disorder 1 11 0 4 0 0 2 6
RLBP1-related disorder 1 7 0 4 3 0 0 6
RP1-related disorder 4 19 0 3 3 0 1 6
RPGRIP1-related disorder 8 3 0 3 2 0 1 6
Radial aplasia-thrombocytopenia syndrome 81 2 2 6 0 0 0 6
Retinitis pigmentosa 40 186 7 0 3 0 0 3 6
Rothmund-Thomson syndrome type 2 184 20 0 2 3 0 1 6
SCARB1-related disorder 2 7 0 4 2 1 1 6
SCYL1-related disorder 7 7 0 5 1 0 0 6
SDK2-related disorder 40 1 0 0 6 0 0 6
SELENON-related disorder 3 4 0 3 5 0 0 6
SERPINF1-related disorder 5 6 0 3 4 0 0 6
SGCD-related disorder 8 3 0 4 4 0 0 6
SIL1-related disorder 7 2 0 6 1 0 0 6
SIN3A-related disorder 8 7 0 5 1 0 0 6
SIRT1-related disorder 1 2 0 4 2 0 0 6
SLC1A2-related disorder 3 9 0 4 3 0 0 6
SLC20A2-related disorder 8 11 0 6 0 0 0 6
SLC22A5-related disorder 9 12 0 3 2 0 1 6
SLC25A46-related disorder 3 3 0 3 4 0 0 6
SLC39A13-related disorder 5 3 0 5 3 0 0 6
SLC39A4-related disorder 3 16 0 6 0 0 0 6
SLC3A1-related disorder 15 3 0 4 2 0 0 6
SLC4A4-related disorder 4 5 0 5 1 0 0 6
SLFN14-related disorder 9 5 0 5 2 0 0 6
SLITRK6-related disorder 3 8 0 4 2 0 0 6
SNTA1-related disorder 1 4 0 4 2 0 0 6
SOX6-related disorder 4 3 0 6 0 0 0 6
SPATA7-related disorder 8 1 0 4 3 0 1 6
SRD5A3-congenital disorder of glycosylation 153 10 0 1 4 0 1 6
STAG1-related disorder 15 8 0 5 0 0 1 6
STAR-related disorder 2 7 0 5 1 0 0 6
STIM1-related disorder 18 7 0 3 4 0 0 6
Schwartz-Jampel syndrome 443 44 0 3 2 0 1 6
Short stature-brachydactyly-obesity-global developmental delay syndrome 58 3 0 4 1 0 1 6
Spinocerebellar ataxia type 5 87 4 0 2 2 0 2 6
Spondyloepimetaphyseal dysplasia, Guo-Campeau type 1 0 0 6 0 0 0 6
Sterile multifocal osteomyelitis with periostitis and pustulosis 179 12 0 2 4 0 0 6
Stickler syndrome type 1 254 13 0 4 1 0 1 6
Stickler syndrome type 2 234 11 0 4 0 0 2 6
Sulfocysteinuria 1 5 0 5 0 0 1 6
TALDO1-related disorder 14 24 0 3 3 0 0 6
TBX22-related disorder 7 2 0 5 1 0 1 6
TGFB3-related disorder 12 12 0 4 3 0 0 6
TH-related disorder 8 5 0 2 4 0 0 6
TMEM107-related disorder 15 11 0 4 2 0 2 6
TMEM127-related disorder 5 1 0 4 2 0 0 6
TMEM216-related disorder 5 5 0 1 5 0 0 6
TMEM231-related disorder 7 11 0 2 4 0 0 6
TNFRSF11A-related disorder 2 12 0 3 5 0 0 6
TNFRSF13B-related disorder 10 6 0 4 0 0 3 6
TRMT5-related disorder 6 10 0 6 0 0 1 6
TRPM3-related disorder 32 11 0 6 0 0 0 6
TRPM6-related disorder 4 6 0 5 2 0 0 6
TRPV3-related disorder 2 8 0 5 1 0 0 6
TRPV6-related disorder 2 16 0 6 0 0 0 6
TSEN54-related disorder 5 8 0 3 3 0 0 6
TSFM-related disorder 2 4 0 5 2 0 0 6
TTLL5-related disorder 1 15 0 4 1 0 1 6
TXNRD2-related disorder 6 16 0 2 4 0 0 6
TYRP1-related disorder 3 9 0 1 2 0 3 6
Thyroid hormone resistance, generalized, autosomal dominant 192 22 0 5 0 0 1 6
Townes-Brocks syndrome 1 126 14 0 5 0 0 2 6
Triosephosphate isomerase deficiency 67 9 0 1 3 0 2 6
UNC45A-related disorder 0 20 0 6 0 0 0 6
Vertebral, cardiac, renal, and limb defects syndrome 3 28 0 0 4 0 0 2 6
WARS2-related disorder 5 8 0 5 1 0 2 6
WAS-related disorder 14 7 0 4 3 0 0 6
WASHC5-related disorder 12 8 0 5 1 0 0 6
WDR1-related disorder 2 18 0 4 2 0 0 6
X-linked intellectual disability Cabezas type 212 8 0 2 3 0 1 6
X-linked intellectual disability-short stature-overweight syndrome 57 2 0 3 0 0 3 6
XYLT2-related disorder 6 28 0 4 2 0 0 6
Xeroderma pigmentosum, group D 111 13 0 4 1 0 3 6
YARS2-related disorder 2 7 0 4 2 0 0 6
ZFPM2-related disorder 21 1 0 5 3 0 0 6
ZNF142-related disorder 11 18 0 6 0 0 0 6
maculopathy 4 6 0 3 0 0 3 6
2-aminoadipic 2-oxoadipic aciduria 892 26 0 3 1 0 1 5
3-Methylglutaconic aciduria type 3 265 11 0 3 0 0 2 5
ABCA2-related disorder 33 15 0 3 2 0 0 5
ABRAXAS1-related disorder 0 4 0 5 0 0 0 5
ADAMTS10-related disorder 1 16 0 4 1 0 0 5
ADAMTS17-related disorder 2 13 0 3 2 0 0 5
ADCY1-related disorder 3 10 0 5 0 0 0 5
ADGRL2-related disorder 23 1 0 4 1 0 0 5
AFF4-related disorder 196 22 0 1 4 0 0 5
AGK-related disorder 7 6 0 4 1 0 0 5
AGPAT2-related disorder 0 5 0 3 3 0 0 5
AKR1D1-related disorder 12 4 0 0 5 0 0 5
ALDH3A2-related disorder 2 4 0 4 1 0 1 5
ALDH4A1-related disorder 9 3 0 3 2 0 0 5
ALKBH8-related disorder 10 6 0 3 3 0 0 5
ANO3-related disorder 5 2 0 4 1 0 0 5
APBA2-related disorder 18 13 0 5 0 0 0 5
ARFGEF3-related disorder 37 8 0 1 4 0 0 5
ARHGEF10-related disorder 5 19 0 3 3 0 0 5
ARID1B-related BAFopathy 20 22 0 5 0 0 0 5
ARIH1-related disorder 0 5 0 3 2 0 0 5
ARMC9-related disorder 5 14 0 4 1 0 0 5
ARSA-related disorder 13 8 0 2 3 0 1 5
ARSL-related disorder 4 4 0 4 0 0 1 5
ASCC1-related disorder 3 3 0 4 1 0 0 5
ASH1L-related disorder 50 25 0 4 1 0 0 5
ASNS-related disorder 1 6 0 5 0 0 0 5
ATP2A2-related disorder 7 3 0 4 1 0 0 5
ATP2A3-related disorder 41 5 0 4 1 0 0 5
ATP2B2-related disorder 9 19 0 3 2 0 0 5
ATP6AP1-related disorder 3 1 0 1 4 0 0 5
ATP6V1B1-related disorder 1 17 0 3 3 0 0 5
Alexander disease 143 31 0 4 1 0 2 5
Alzheimer disease 3 193 17 0 4 0 0 1 5
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 226 10 0 2 3 0 0 5
Anophthalmia/microphthalmia-esophageal atresia syndrome 169 7 0 3 1 0 2 5
Aortic aneurysm, familial thoracic 8 596 27 0 2 3 0 0 5
Aortic valve disease 1 645 13 0 5 0 0 0 5
Arrhythmogenic right ventricular dysplasia 13 902 18 0 1 4 0 0 5
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 3 14 0 0 4 0 1 5
Asphyxiating thoracic dystrophy 2 172 19 0 2 1 0 2 5
Asphyxiating thoracic dystrophy 5 83 10 0 5 0 0 0 5
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 79 7 0 4 1 0 0 5
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 0 9 0 4 0 0 1 5
Atrial septal defect 7 549 7 0 3 0 0 2 5
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 108 10 0 1 1 0 3 5
Autosomal dominant aplasia and myelodysplasia 78 10 0 2 2 0 1 5
Autosomal dominant centronuclear myopathy 163 5 0 4 1 0 0 5
Autosomal dominant nonsyndromic hearing loss 6 230 1 0 2 1 0 2 5
Autosomal dominant retinitis pigmentosa 0 2 0 3 0 0 2 5
Autosomal recessive ataxia, Beauce type 688 30 0 1 3 0 1 5
Autosomal recessive early-onset Parkinson disease 7 74 10 0 3 1 0 1 5
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 23 13 0 4 0 0 1 5
Autosomal recessive nonsyndromic hearing loss 18B 113 15 0 4 0 0 1 5
Autosomal recessive nonsyndromic hearing loss 21 174 13 0 1 0 0 4 5
Axenfeld-Rieger syndrome type 3 546 14 0 4 0 0 1 5
BBS5-related disorder 75 5 0 2 2 0 1 5
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 34 1 0 1 0 0 4 5
BIVM-ERCC5-related disorder 0 7 0 3 2 0 0 5
BLOC1S3-related disorder 4 5 0 3 2 0 0 5
BMP1-related disorder 4 20 0 4 1 0 0 5
BSN-related disorder 42 7 0 2 3 0 0 5
Bardet-Biedl syndrome 8 58 3 0 1 3 0 1 5
Bartter disease type 4A 65 14 0 4 0 0 1 5
Behavior disorder 77 11 0 2 3 0 0 5
Benign familial hematuria 72 3 0 3 0 0 2 5
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 15 4 0 4 1 0 0 5
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 30 5 0 3 2 0 0 5
Blood group, ER 0 0 0 0 0 5 0 5
Bohring-Opitz syndrome 153 9 0 4 1 0 0 5
Brachydactyly type B1; Autosomal recessive Robinow syndrome 161 55 0 0 4 0 1 5
Brain-lung-thyroid syndrome 88 6 0 4 1 0 0 5
Branchiooculofacial syndrome 77 5 0 4 1 0 0 5
Breast cancer, early-onset 0 2 0 1 2 0 4 5
Bruck syndrome 1 16 2 0 4 1 0 0 5
C1R-related disorder 4 6 0 3 2 0 0 5
CA4-related disorder 1 5 0 2 3 0 1 5
CAPN15-related disorder 24 23 0 3 2 0 0 5
CAPN5-related disorder 1 18 0 3 2 0 0 5
CBLIF-related disorder 4 1 0 2 3 0 0 5
CCDC39-related disorder 11 5 0 1 3 0 1 5
CCN6-related disorder 0 5 0 3 2 0 0 5
CDC14A-related disorder 5 6 0 5 0 0 0 5
CEACAM16-related disorder 0 8 0 4 1 0 0 5
CEP170B-related disorder 58 4 0 1 4 0 0 5
CEP41-related disorder 6 2 0 1 4 0 2 5
CHAMP1-related disorder 21 14 0 4 1 0 0 5
CHD1-related disorder 14 8 0 2 3 0 0 5
CHMP2B-related disorder 14 5 0 2 1 0 2 5
CHRNG-related disorder 2 7 0 2 2 0 1 5
CITED2-related disorder 8 1 0 5 2 0 0 5
CLCN7-related disorder 7 16 0 3 2 0 0 5
CLN8-related disorder 2 3 0 3 3 0 0 5
CNGB3-related disorder 0 10 0 2 3 0 0 5
COASY-related disorder 5 4 0 2 3 0 1 5
COLGALT1-related disorder 5 13 0 3 2 0 0 5
COLQ-related disorder 5 1 0 1 3 0 1 5
COQ9-related disorder 4 7 0 2 3 0 0 5
CSGALNACT1-related disorder 4 12 0 5 0 0 0 5
CTNS-related disorder 7 6 0 4 2 0 0 5
CTSF-related disorder 5 4 0 3 3 0 0 5
CYP11B1-related disorder 4 5 0 4 0 0 2 5
CYP17A1-related disorder 0 8 0 4 1 0 0 5
CYP21A2-related disorder 18 12 0 2 2 0 2 5
CYP24A1-related disorder 3 2 0 3 2 0 0 5
CYP26B1-related disorder 2 2 0 5 2 0 0 5
Cardio-facio-cutaneous syndrome 48 20 0 5 0 0 0 5
Cardiofaciocutaneous syndrome 1 47 15 0 4 0 0 1 5
Cardiofaciocutaneous syndrome 4 94 17 0 1 2 0 2 5
Carnitine palmitoyl transferase II deficiency, myopathic form 135 5 0 3 0 0 2 5
Cataract 10 multiple types 43 2 0 2 1 0 2 5
Catecholaminergic polymorphic ventricular tachycardia 2810 19 0 3 1 0 1 5
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 170 2 0 3 1 0 1 5
Charcot-Marie-Tooth disease axonal type 2T 59 6 1 4 0 0 0 5
Charcot-Marie-Tooth disease type 4B1 99 17 0 4 1 0 0 5
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 143 16 0 0 5 0 0 5
Colorectal cancer 2833 606 2 3 0 0 2 5
Combined immunodeficiency due to MALT1 deficiency 431 10 0 2 3 0 0 5
Combined oxidative phosphorylation defect type 11 103 9 0 2 0 0 3 5
Combined oxidative phosphorylation deficiency 44 129 2 0 4 1 0 0 5
Complement component 7 deficiency 25 2 0 5 0 0 2 5
Cone-rod dystrophy 15 169 7 0 2 2 0 2 5
Cone-rod dystrophy 5 152 5 0 4 2 0 1 5
Congenital NAD deficiency disorder 13 4 0 4 0 0 1 5
Congenital afibrinogenemia 172 10 0 3 0 0 3 5
Congenital diarrhea 7 with exudative enteropathy 38 2 0 5 0 0 1 5
Congenital disorder of deglycosylation 769 23 0 4 0 0 2 5
Congenital disorder of deglycosylation 1 42 6 0 5 0 0 0 5
Congenital disorder of deglycosylation 2 21 2 0 4 0 0 2 5
Congenital myopathy with fiber type disproportion 233 2 0 3 0 0 2 5
Cornelia de Lange syndrome 4 278 9 0 2 3 0 0 5
Cranioectodermal dysplasia 4 85 12 0 5 0 0 0 5
Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 8 1 0 0 0 0 5 5
DAAM2-related disorder 50 2 0 3 2 0 0 5
DARS2-related disorder 1 7 0 4 1 0 0 5
DCPS-related disorder 1 1 0 5 0 0 0 5
DGAT1-related disorder 3 9 0 4 1 0 0 5
DGKD-related disorder 8 7 0 5 1 0 0 5
DHX37-related disorder 3 29 0 3 2 0 0 5
DISC1-related disorder 20 9 0 4 1 0 0 5
DMXL1-related disorder 56 15 0 2 3 0 0 5
DNAAF4-related disorder 3 0 0 3 2 0 0 5
DNAJB13-related disorder 1 3 0 1 4 0 0 5
DNAJC6-related disorder 5 1 0 4 1 0 0 5
DNM1-related disorder 15 8 0 4 1 0 1 5
DNMT3B-related disorder 16 6 0 2 3 0 0 5
DOLK-related disorder 1 6 0 2 2 0 1 5
DPYS-related disorder 0 3 0 5 0 0 0 5
DRP2-related disorder 3 4 0 4 0 0 1 5
DSG4-related disorder 10 10 0 3 2 0 0 5
DTNBP1-related disorder 2 6 0 3 2 0 0 5
Debrisoquine, poor metabolism of 0 1 0 0 0 5 0 5
Dejerine-Sottas disease 64 0 0 0 0 0 5 5
Desbuquois dysplasia 1 603 2 0 4 0 0 1 5
Deutetrabenazine response 0 0 0 0 0 5 0 5
Developmental and epileptic encephalopathy 91 25 4 0 5 0 0 0 5
Developmental and epileptic encephalopathy, 33 458 9 0 2 0 0 3 5
Developmental and epileptic encephalopathy, 56 16 2 0 2 0 0 3 5
Developmental delay with variable intellectual impairment and behavioral abnormalities 157 10 0 4 1 0 0 5
Diabetes mellitus, transient neonatal, 1 30 10 0 4 1 0 0 5
Diamond-Blackfan anemia 9 45 1 0 3 2 0 0 5
Dihydropyrimidinase deficiency 54 7 0 4 0 0 1 5
Dilated cardiomyopathy 1I 61 3 1 2 0 0 2 5
Dyskeratosis congenita, autosomal dominant 1 423 6 0 0 0 0 5 5
Dystonia 9 199 23 0 5 0 0 0 5
EARS2-related disorder 5 3 0 2 3 0 0 5
ECEL1-related disorder 11 7 0 4 1 0 0 5
ECHS1-related disorder 4 7 0 3 2 0 1 5
EFEMP1-related disorder 0 2 0 4 2 0 0 5
EFEMP2-related disorder 1 12 0 4 1 0 0 5
EIF2AK4-related disorder 10 4 0 5 0 0 0 5
EIF2B3-related disorder 0 5 0 4 2 0 0 5
ELAC2-related disorder 10 4 0 2 4 0 0 5
ELANE-related disorder 22 9 0 3 2 0 0 5
EPB41L1-related disorder 6 1 0 3 2 0 0 5
ERCC3-related disorder 1 5 0 5 1 0 0 5
ERCC4-related disorder 16 7 0 4 3 0 1 5
EZH2-related disorder 8 7 0 4 1 0 0 5
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 114 1 0 5 0 0 0 5
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 180 4 0 3 0 0 2 5
Elliptocytosis 2 268 17 0 4 0 0 1 5
Encephalopathy 5 2 0 4 1 1 2 5
Erythrocytosis, familial, 4 141 12 0 2 3 0 0 5
Exudative vitreoretinopathy 1 150 1 0 5 0 0 0 5
F13A1-related disorder 19 5 0 3 2 0 0 5
FBXO38-related disorder 14 4 0 5 1 0 0 5
FGF14-related disorder 5 0 0 5 0 0 0 5
FGF3-related disorder 2 1 0 5 0 0 0 5
FHL1-related disorder 6 8 0 4 1 0 0 5
FHOD3-related disorder 12 6 0 4 2 0 0 5
FRYL-related developmental disorder 9 1 0 0 0 0 5 5
FSCN2-related disorder 2 9 0 3 2 0 0 5
FSHR-related disorder 2 0 0 3 3 0 0 5
FTL-related disorder 8 3 0 4 1 0 1 5
FZD2-related disorder 7 2 0 5 1 0 0 5
Factor X deficiency 20 1 0 3 0 0 3 5
Factor XIII, A subunit, deficiency of 116 6 0 3 0 0 2 5
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 238 14 0 4 0 0 1 5
Familial Otitis Media 5 0 1 0 0 5 0 5
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 117 7 0 4 0 0 1 5
Familial hypocalciuric hypercalcemia 1 142 5 0 3 0 0 2 5
Familial melanoma 1909 17 0 4 0 0 1 5
Familial pulmonary capillary hemangiomatosis 92 14 0 5 0 0 0 5
Focal segmental glomerulosclerosis 5 164 7 0 3 2 0 0 5
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 33 2 0 4 0 0 2 5
Fraser syndrome 3 194 22 0 3 2 0 0 5
GABRA2-related disorder 3 6 0 3 2 0 0 5
GALNS-related disorder 15 7 0 4 1 0 0 5
GALT-related disorder 8 12 0 4 1 1 2 5
GAN-related disorder 2 3 0 4 2 0 0 5
GCLC-related disorder 0 4 0 3 2 0 0 5
GDF2-related disorder 2 8 0 2 3 0 0 5
GEN1-related disorder 2 4 0 2 3 0 0 5
GFM2-related disorder 6 4 0 3 2 0 0 5
GIPC3-related disorder 2 4 0 4 2 0 0 5
GJC2-related disorder 2 4 0 4 3 0 0 5
GLE1-related disorder 6 2 0 3 2 0 0 5
GNAO1-related disorder 11 6 0 4 0 0 1 5
GNAT1-related disorder 1 3 0 4 1 0 0 5
GP1BA-related disorder 31 15 0 2 3 0 1 5
GPAA1-related disorder 4 9 0 5 0 0 0 5
GPD1L-related disorder 0 4 0 4 2 0 1 5
GRM1-related disorder 1 5 0 4 2 0 0 5
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 90 14 0 4 0 0 1 5
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 576 25 0 3 2 0 0 5
GRXCR1-related disorder 2 1 0 4 1 0 0 5
GSN-related disorder 5 17 0 5 0 0 0 5
GTPBP3-related disorder 3 9 0 3 2 0 0 5
Galloway-Mowat syndrome 3 25 2 0 5 0 0 0 5
Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma 1246 12 0 2 1 0 2 5
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 25 0 4 0 0 1 5
Generalized epilepsy with febrile seizures plus, type 2 312 16 0 3 1 0 1 5
Generalized juvenile polyposis/juvenile polyposis coli 334 3 0 5 1 0 0 5
Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 10 8 0 4 1 0 2 5
Glomuvenous malformation 68 9 0 5 0 0 0 5
Glutamate pyruvate transaminase 2 deficiency 30 2 0 2 0 0 3 5
Glycine encephalopathy 2 34 8 0 3 0 0 2 5
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 504 6 0 1 2 0 2 5
HADH-related disorder 16 1 0 1 5 0 0 5
HBA1-related disorder 3 4 0 1 3 3 0 5
HFE-related disorder 2 2 0 1 3 1 0 5
HGSNAT-related disorder 14 3 0 2 3 0 1 5
HMOX1-related disorder 1 3 0 4 1 0 0 5
HSPB1-related disorder 2 3 0 4 1 0 0 5
Haemorrhagic telangiectasia 1 1 0 0 2 3 0 0 5
Hearing loss 32 12 0 4 0 0 1 5
Hennekam lymphangiectasia-lymphedema syndrome 1 197 17 0 1 4 0 1 5
Hereditary factor X deficiency disease 63 6 0 3 0 0 3 5
Hereditary spastic paraplegia 54 238 16 0 4 0 0 2 5
Hereditary spastic paraplegia 77 10 1 0 4 0 0 1 5
Hereditary spherocytosis type 2 144 3 0 5 0 0 0 5
Hermansky-Pudlak syndrome 9 170 6 0 4 1 0 0 5
Heterotaxy, visceral, 1, X-linked 112 3 0 3 2 0 0 5
High myopia 46 23 0 0 3 0 2 5
Hirschsprung disease, susceptibility to, 4 52 11 0 3 1 0 3 5
Holoprosencephaly 9 166 5 0 2 1 0 3 5
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 608 10 0 3 2 0 0 5
Houge-Janssens syndrome 3 29 2 0 5 0 0 0 5
Hyaline fibromatosis syndrome 175 5 0 4 1 0 0 5
Hyperalphalipoproteinemia 1 58 4 0 3 0 0 2 5
Hypercholanemia, familial, 2 14 0 0 2 0 0 3 5
Hypertrophic cardiomyopathy 17 24 9 0 3 1 0 1 5
Hypertrophic cardiomyopathy 26 166 8 0 4 0 0 1 5
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 57 3 0 2 0 0 3 5
IARS2-related disorder 1 7 0 4 1 0 0 5
IFNGR1-related disorder 1 5 0 4 1 0 0 5
IL17RC-related disorder 3 5 0 4 1 0 0 5
IL6R-related disorder 2 12 0 4 1 1 0 5
ILDR1-related disorder 3 2 0 5 2 0 0 5
ILK-related disorder 3 4 0 3 2 0 0 5
INTU-related disorder 4 12 0 3 2 0 1 5
IQCB1-related disorder 11 3 0 2 3 0 0 5
IQCE-related disorder 27 7 0 4 1 0 0 5
IREB2-related disorder 0 3 0 5 0 0 0 5
IRF2BP2-related disorder 3 19 0 4 1 0 0 5
ITGB2-related disorder 18 6 0 5 0 0 0 5
ITPR2-related disorder 17 0 0 1 4 0 0 5
Immunodeficiency due to MASP-2 deficiency 70 3 0 1 2 0 3 5
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 459 17 0 4 1 0 0 5
Infantile GM1 gangliosidosis 81 16 0 5 0 0 0 5
Inflammatory skin and bowel disease, neonatal, 1 521 7 0 3 2 0 0 5
Intellectual developmental disorder with seizures and language delay 134 10 0 5 0 0 0 5
Intellectual disability, X-linked 90 58 2 0 0 3 0 2 5
Intellectual disability, autosomal dominant 14 204 14 0 3 0 0 2 5
Intellectual disability, autosomal dominant 43 165 5 0 2 3 0 0 5
Iodotyrosine deiodination defect 7 0 0 5 0 0 0 5
JAK1-related disorder 6 19 0 3 2 0 0 5
Junctional epidermolysis bullosa with pyloric atresia 331 12 0 5 0 0 0 5
KCNA5-related disorder 5 3 0 4 2 0 0 5
KCND3-related disorder 3 4 0 4 3 0 0 5
KCNE1-related disorder 1 1 0 2 3 0 0 5
KCNJ11-related disorder 9 13 0 3 1 0 2 5
KCNN4-related disorder 8 2 0 3 2 0 0 5
KCNQ5-related disorder 8 19 0 4 1 0 0 5
KDM3B-related disorder 36 14 0 4 1 0 0 5
KL-related disorder 1 7 0 5 1 0 0 5
KMT5B-related disorder 12 8 0 4 1 0 0 5
KRIT1-related disorder 26 11 0 2 2 0 1 5
KRT1-related disorder 9 9 0 2 3 0 0 5
KRT16-related disorder 3 8 0 5 0 0 0 5
KRT71-related disorder 2 6 0 4 1 0 0 5
KRT85-related disorder 6 3 0 5 2 0 0 5
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4 0 3 0 1 4 0 2 5
Knobloch syndrome 218 18 0 4 1 0 1 5
L2HGDH-related disorder 3 1 0 4 1 0 0 5
LARGE1-related disorder 20 5 0 2 3 0 0 5
LARS1-related disorder 2 7 0 5 0 0 1 5
LEP-related disorder 22 8 0 2 3 0 0 5
LIMK1-related disorder 6 3 0 4 1 0 0 5
LRIG2-related disorder 6 5 0 3 2 0 0 5
LRP6-related disorder 3 6 0 4 2 0 0 5
LRPAP1-related disorder 4 6 0 4 1 0 0 5
LRTOMT-related disorder 4 5 0 4 1 0 0 5
LTBP3-related disorder 46 10 0 2 3 0 0 5
LZTFL1-related disorder 34 26 0 3 2 0 0 5
LZTS1-related disorder 4 13 0 4 1 0 0 5
Laron-type isolated somatotropin defect 112 10 0 3 1 0 2 5
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5 0 11 0 0 4 0 1 5
Leprosy, susceptibility to, 1 15 0 0 0 3 2 1 5
Leukoencephalopathy with vanishing white matter 5 35 5 0 4 0 0 1 5
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 10 0 0 2 0 0 5 5
Lissencephaly with decussation defect 0 0 0 5 0 0 0 5
Loeys-Dietz syndrome 1 122 4 0 3 0 0 2 5
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 582 14 0 5 0 0 0 5
MANBA-related disorder 14 3 0 3 3 0 0 5
MATR3-related disorder 39 6 0 3 3 0 0 5
MC3R-related disorder 67 15 0 2 2 0 1 5
MCM4-related disorder 0 9 0 4 1 0 0 5
MED13-related disorder 38 17 0 5 0 0 0 5
MESP1-related disorder 3 15 0 3 2 0 0 5
MFRP-related disorder 11 1 0 2 3 0 0 5
MFSD8-related disorder 2 2 0 3 3 0 1 5
MIB1-related disorder 13 5 0 2 1 0 2 5
MMADHC-related disorder 3 1 0 1 4 0 0 5
MPI-related disorder 4 2 0 3 2 0 1 5
MRAS-related disorder 0 3 0 2 3 0 0 5
MTPAP-related disorder 2 2 0 5 0 0 0 5
MYCN-related disorder 19 8 0 2 2 0 1 5
MYT1-related disorder 22 10 0 5 0 0 0 5
Macular dystrophy with or without extraocular features 16 1 0 4 0 0 1 5
Maturity-onset diabetes of the young type 11 98 20 0 3 0 0 3 5
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 134 21 0 2 2 0 1 5
Meier-Gorlin syndrome 1 80 3 0 4 1 0 0 5
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 96 0 0 1 3 0 1 5
Microcephalic primordial dwarfism due to ZNF335 deficiency 66 2 0 2 0 0 3 5
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 115 9 0 3 0 0 2 5
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 11 8 0 0 5 0 0 5
Mitochondrial DNA depletion syndrome 8a 113 1 0 4 0 0 2 5
Mitochondrial complex I deficiency, nuclear type 5 57 7 0 3 0 0 2 5
Mitochondrial complex IV deficiency, nuclear type 1 392 10 0 4 0 0 2 5
Mortality risk in patients with severe coronavirus disease (COVID-19) 0 0 0 0 2 3 0 5
Multiple epiphyseal dysplasia type 1 103 2 0 5 0 0 0 5
Multiple epiphyseal dysplasia type 4 217 5 0 2 2 0 1 5
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 0 4 0 0 5 0 0 5
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome 3 9 0 1 4 0 0 5
Myoglobinuria, acute recurrent, autosomal recessive 264 21 0 3 2 0 0 5
NAA10-related disorder 3 4 0 4 2 0 1 5
NCF2-related disorder 8 1 0 3 2 0 0 5
NDE1-related disorder 5 5 0 3 2 0 1 5
NDRG1-related disorder 2 5 0 2 3 0 0 5
NDST1-related disorder 5 6 0 4 2 0 0 5
NDUFAF5-related disorder 0 5 0 4 1 0 0 5
NHERF1-related disorder 3 6 0 3 2 0 0 5
NKX3-2-related disorder 1 3 0 3 2 0 0 5
NLGN3-related disorder 5 3 0 3 3 0 0 5
NNT-related disorder 6 11 0 4 1 0 0 5
NPC2-related disorder 9 1 0 0 5 0 0 5
NPR2-related disorder 10 3 0 4 1 0 0 5
NR0B1-related disorder 8 1 0 5 0 0 0 5
NR0B2-related disorder 58 24 0 1 4 0 1 5
NRXN2-related disorder 11 10 0 5 0 0 0 5
NUBPL-related disorder 0 4 0 4 2 0 0 5
NUP62-related disorder 1 7 0 4 2 0 0 5
Nephrotic range proteinuria 1 1 2 5 0 0 3 5
Neurodegeneration with brain iron accumulation 2B 26 9 0 5 0 0 0 5
Neurodevelopmental disorder 1164 5 0 5 0 0 1 5
Neurodevelopmental disorder with language impairment and behavioral abnormalities 59 3 0 5 0 0 1 5
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 20 3 0 4 0 0 3 5
Neurofibromatosis, familial spinal 188 10 0 3 2 0 0 5
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 1198 12 0 5 0 0 0 5
Neutropenia, severe congenital, 2, autosomal dominant 366 5 0 1 3 0 1 5
Non-acquired combined pituitary hormone deficiency with spine abnormalities 147 9 0 1 4 0 0 5
Non-syndromic oligodontia 2 1 0 0 0 1 5 5
Noonan syndrome 10 99 3 0 2 0 0 3 5
Noonan syndrome 2 65 7 0 3 0 0 2 5
Norman-Roberts syndrome 264 18 0 3 3 0 0 5
OCRL-related disorder 17 7 0 3 3 0 0 5
OGDHL-related disorder 17 3 0 5 0 0 0 5
OPTN-related disorder 43 14 0 4 1 0 0 5
OSGEP-related disorder 5 2 0 4 1 0 0 5
OTC-related disorder 11 3 0 1 0 0 4 5
Oguchi disease-2 21 1 0 5 0 0 1 5
Ovarian cancer 2290 748 0 2 1 0 2 5
PANK2-related disorder 7 1 0 3 2 0 0 5
PARS2-related disorder 0 2 0 4 1 0 0 5
PAX1-related disorder 2 7 0 5 0 0 0 5
PAX6-related disorder 19 5 0 4 1 0 0 5
PCCA-related disorder 11 9 0 3 2 0 0 5
PDE3A-related disorder 8 8 0 5 0 0 0 5
PDHX-related disorder 0 6 0 4 2 0 0 5
PEX16-related disorder 41 9 0 1 5 0 0 5
PEX3-related disorder 2 8 0 1 4 0 0 5
PGAP3-related disorder 0 3 0 3 2 0 0 5
PGM1-related disorder 15 7 0 2 3 0 0 5
PHF6-related disorder 38 4 0 0 4 0 1 5