ClinVar Miner

Variants from Genome-Nilou Lab

Location: Iran  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
2559 1657 9737 4933 16387 35056

Gene and significance breakdown #

Total genes and gene combinations: 2829
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 457 125 945 556 86 2169
TSC2 92 28 387 403 714 1624
USH2A 138 236 460 179 122 1133
NBN 71 5 555 48 11 690
TP53 87 79 241 210 17 633
SMARCA4 0 4 458 61 81 604
TSC1 58 3 154 155 215 585
NOTCH1 0 0 211 168 180 559
TTN 0 0 0 0 545 545
SZT2 4 11 332 128 48 523
STK11 30 13 311 95 8 457
ATP7B 156 64 83 51 19 373
CACNA1S 4 14 115 150 86 369
AGL 67 39 166 54 42 368
CFTR 14 31 268 37 5 344
ATR 0 1 164 138 39 342
KCNT1 0 0 64 174 73 307
ASPM 47 17 143 39 49 295
GAA 1 22 186 42 39 290
SACS 33 26 113 95 23 290
HMCN1 0 0 146 43 81 270
SPG11 53 17 147 30 8 255
SPTAN1 0 4 67 31 126 228
SOS1 10 9 111 64 24 218
SETX 4 10 103 67 38 216
TNNT2 7 18 100 61 26 212
SLC2A1 37 24 67 48 30 206
LRP2 0 0 39 48 106 193
CRB1 48 33 78 24 9 192
NSD1 49 11 30 40 59 189
SOS2 3 2 61 63 55 184
MEFV 1 3 119 133 50 172
GLA, RPL36A-HNRNPH2 79 24 43 15 10 171
CACNA1E 0 3 30 62 74 169
CASQ2 1 16 87 35 23 162
SGSH 16 17 91 17 19 160
NTRK1 11 10 74 46 18 159
ALDH7A1 19 12 65 28 27 151
SGCD 2 3 98 38 12 151
COL5A1 0 0 0 0 144 144
SLC22A5 35 30 45 14 19 143
CPT2 8 29 70 21 9 137
CFH 2 4 67 28 35 136
SLC26A4 41 37 43 16 0 134
DOCK7 1 3 87 28 14 133
ZEB2 15 1 28 29 55 128
GALNS 28 32 25 13 27 125
NF2 9 1 79 19 14 122
SGCA 18 17 61 7 13 116
NIPBL 28 7 14 25 41 115
SLC12A3 25 16 15 22 36 114
ANKRD11 0 0 0 0 113 113
MAN2B1 49 8 13 28 11 109
MMACHC 24 22 39 17 6 108
CDH23 0 0 33 16 59 107
ADAMTSL4 3 5 68 13 17 106
ZNF469 0 0 0 0 105 105
ARID1B 34 4 12 11 39 100
CCDST, FLG 22 17 2 3 55 99
ANK2 0 0 0 0 92 92
CTC1 5 2 40 18 27 92
DYSF 0 0 23 14 50 87
CLN3 10 2 63 8 2 85
P3H1 5 10 48 8 12 83
DBT 12 9 19 14 28 82
AKAP9 0 0 0 0 81 81
MYO7A 2 2 25 12 47 80
RIT1 14 9 29 21 5 78
RPGRIP1 15 4 33 21 3 76
AP4B1 6 3 40 20 6 75
LDLRAP1 6 3 25 33 7 74
TYR 44 20 6 3 1 74
ABCD1, PLXNB3 21 11 17 7 16 72
POGZ 10 7 9 32 13 71
BCKDHA 25 6 10 19 10 70
CLN5 18 9 29 6 6 68
ADAR 1 3 40 10 13 67
BCKDHB 25 17 10 7 8 67
TGM1 23 26 1 4 13 67
DNAH5 1 2 34 7 21 65
PKHD1 2 2 29 11 21 65
ATP1A2 0 0 0 0 64 64
CR2 2 3 36 9 13 63
EYS 1 3 12 5 42 63
OCA2 7 13 21 13 9 63
ANKRD26 0 0 0 0 62 62
ADA 23 11 13 6 8 61
PCDH15 0 1 18 6 36 61
SLC12A6 5 2 9 14 30 60
VWF 0 0 0 0 60 60
NEB 0 0 7 2 50 59
COL4A3, MFF-DT 0 2 11 12 33 58
HMGCL 11 3 26 11 7 58
ABCC6 0 0 0 1 57 57
ABCD1 9 11 15 7 15 57
SETD2 0 0 23 4 30 57
AHDC1 0 0 0 0 56 56
PHGDH 0 10 31 5 10 56
ACAN 0 0 0 0 54 54
ASXL1 0 0 0 0 54 54
DPYD 1 16 27 6 4 54
SLC13A5 3 3 31 4 10 51
ACADS 2 21 13 8 6 50
ATP1A3 0 0 0 0 50 50
KCNQ4 1 2 21 10 16 50
NPHS2 10 15 9 9 7 50
ACTG1 0 0 0 0 49 49
ALG13 0 0 0 0 49 49
LOC126862264, MEFV 2 1 33 39 10 49
LOC130062899, STK11 0 0 39 9 0 48
MACF1 0 0 6 14 28 48
TNC 0 0 0 0 48 48
VPS13B 1 4 22 13 8 48
COL4A6 0 0 0 0 46 46
HSPG2 0 0 0 0 46 46
WDR62 0 0 0 0 46 46
MLC1 0 0 4 9 31 44
SERAC1 4 2 8 11 18 43
ARID1A 0 0 0 0 42 42
CFHR5 0 0 17 13 12 42
DARS2 5 3 13 10 11 42
FANCA 0 0 9 3 29 41
GALC 0 1 5 1 34 41
SLC17A5 9 7 7 5 13 41
SLC7A7 7 0 13 9 12 41
COL5A1, LOC101448202 0 0 0 0 40 40
GORAB 1 1 30 1 7 40
ZFYVE26 0 0 0 0 40 40
ACTN4 0 0 0 0 39 39
ANO3 0 0 0 0 39 39
ANO5 0 0 0 2 39 39
COL27A1 0 0 1 2 36 39
PLEC 0 0 0 0 39 39
USH1C 0 0 2 1 36 39
ACVRL1 0 0 0 0 38 38
ALMS1 2 2 15 2 17 38
GATAD2B 7 5 14 8 4 38
SEMA4A 0 0 28 8 2 38
VPS13A 0 0 3 2 33 38
WRN 0 0 0 0 38 38
ELP1 0 1 8 3 25 37
SEPTIN9 0 0 0 0 37 37
XDH 0 0 0 0 37 37
LAMB3 0 1 9 2 24 36
LDLR 0 3 5 1 27 36
ADCY5 0 0 0 0 35 35
COL4A4 0 0 3 1 31 35
ANK1 0 0 0 0 34 34
ASXL3 0 0 0 0 33 33
DNAJC6 1 0 13 5 14 33
OTC 20 1 11 0 1 33
STRC 5 7 4 8 9 33
ACSF3 1 0 8 0 23 32
ASPA, SPATA22 16 7 7 1 1 32
TOR1AIP1 0 1 17 6 8 32
FPGT-TNNI3K, TNNI3K 0 0 21 3 7 31
GNPTG 6 2 8 12 3 31
NGF 0 0 22 7 2 31
XPC 0 0 0 0 31 31
ZNF335 0 0 0 0 31 31
ARHGAP31 0 0 0 0 30 30
ATM 1 1 12 3 13 30
CENPF 0 0 0 0 30 30
CTSK 2 17 9 1 1 30
RFX5 0 0 20 2 8 30
SYNE1 0 0 0 0 30 30
WWOX 0 0 0 0 30 30
ADAMTS2 0 0 0 0 29 29
EVC 0 3 6 3 17 29
AMPD2 0 2 15 5 6 28
NPC1 1 4 8 3 12 28
PYGM 0 0 16 3 9 28
BLM 0 1 11 3 12 27
LOC126860438, NBN 4 3 19 0 1 27
SPINK5 0 0 0 0 27 27
ATL1 0 0 0 0 26 26
AXDND1, NPHS2 1 11 4 4 6 26
CACNA1C 0 0 0 0 26 26
DMD 2 0 7 2 15 26
DNAH11 0 0 0 0 26 26
DOCK8 0 0 0 0 26 26
LAMA3 0 0 2 3 21 26
LOC122152296, USH2A 5 6 12 3 1 26
LOXHD1 0 1 4 1 20 26
LRPPRC 0 0 2 1 23 26
PAH 10 6 4 2 4 26
ACTB 0 0 0 0 25 25
ALPL 0 2 3 1 19 25
ANLN 0 0 0 1 24 25
ASH1L 1 3 14 3 4 25
CUBN 0 0 0 0 25 25
NPHS1 1 1 6 5 12 25
RYR1 0 0 0 0 25 25
SLC4A11 0 0 0 2 23 25
ZNF423 0 0 0 0 25 25
ANXA11 0 0 0 1 23 24
CEP290 2 1 13 2 6 24
CIITA 0 0 2 0 22 24
LOC111811965, MIR4733HG, NF1 7 4 8 4 1 24
PIEZO2 0 0 0 0 24 24
SYNE2 0 0 0 0 24 24
ADNP 0 0 0 0 23 23
ANKH 0 0 0 0 23 23
C3 0 0 0 0 23 23
CFTR, LOC111674472 0 2 20 1 0 23
CLCNKB, LOC106501713 0 0 0 0 23 23
FRAS1 0 0 0 0 23 23
NDUFS2 0 1 11 7 4 23
PKD1L1 0 0 0 0 23 23
PTS 10 6 3 2 2 23
RYR2 0 0 0 0 23 23
AP4E1 0 0 0 0 22 22
CAPN3 1 1 9 3 9 22
CYP11B2, LOC106799834 0 0 0 1 21 22
DHCR7 3 0 3 3 13 22
IDS 14 3 1 3 1 22
INTS1 0 0 0 0 22 22
MYH3 0 0 0 0 22 22
SPTA1 0 0 0 0 22 22
ADGRV1 0 0 0 0 21 21
ASAH1 0 0 0 0 21 21
LOC112577517, TOR1AIP1 0 0 16 3 2 21
LOC126860794, NOTCH1 0 0 3 9 9 21
OBSL1 0 0 0 0 21 21
PIEZO1 0 0 0 0 21 21
RTEL1, RTEL1-TNFRSF6B 0 0 0 0 21 21
WDR19 0 0 0 0 21 21
AGRN 0 0 0 1 19 20
ASS1 1 4 5 0 10 20
CPS1 0 0 5 0 15 20
GNPTAB 1 0 9 0 10 20
LAMA1 0 0 0 0 20 20
LOC129930446, MMACHC 7 2 8 3 0 20
MCOLN1 0 0 6 6 8 20
MORC2 0 0 0 0 20 20
MYO3A 0 0 0 0 20 20
PI4KA 0 0 0 0 20 20
POMGNT1, TSPAN1 1 0 11 1 8 20
RP1L1 0 0 0 0 20 20
CACNA1A 0 0 0 0 19 19
FAH 1 1 2 1 14 19
GFM1 0 1 3 2 13 19
PEX1 0 4 5 1 9 19
ABCA4 3 0 0 0 15 18
ACADVL 2 2 10 1 3 18
CPT2, LOC129930561 3 4 7 3 1 18
LAMC3 0 0 0 0 18 18
MYO15A 0 0 0 0 18 18
NOTCH3 0 0 0 0 18 18
PIGQ 0 0 0 0 18 18
SUMF1 6 0 1 7 4 18
TH 0 1 2 0 15 18
WNK1 0 0 0 0 18 18
ABCB11 1 0 2 0 14 17
ADAMTS17 0 0 0 0 17 17
ANTXR1 0 0 0 0 17 17
ATM, C11orf65 1 1 7 3 5 17
CACNA2D4 0 0 0 0 17 17
COL4A2 0 0 0 0 17 17
CPT1A 0 0 5 0 12 17
DNAI2 0 0 1 1 15 17
HFE 1 2 11 0 3 17
PCCA 0 0 12 1 4 17
PKD1, TSC2 1 0 0 1 15 17
TBX15 0 0 8 2 7 17
AFF4 0 0 0 0 16 16
ASL 0 2 6 0 8 16
ATP2A2 0 0 0 0 16 16
COL11A1 0 0 0 0 16 16
COL4A5 0 2 1 6 7 16
CRB2 0 0 0 0 16 16
HPS1 1 0 0 0 15 16
IQCE 0 0 0 0 16 16
LAMC2 0 0 2 3 11 16
LDLRAP1, LOC129929773 2 1 7 6 0 16
PCNT 0 1 0 0 15 16
SMPD1 1 3 5 1 6 16
SPTB 0 0 0 0 16 16
AGXT 0 0 0 0 15 15
ALG14 0 0 13 0 2 15
AMPD2, LOC126805822 0 1 7 3 4 15
CCT5 0 0 0 0 15 15
COL11A2 0 0 0 0 15 15
CTNS 0 0 3 0 12 15
DHX37 0 0 0 0 15 15
FAT4 0 0 0 0 15 15
FN1 0 0 0 0 15 15
GBA1, LOC106627981 1 3 7 2 2 15
KRT6C 0 0 0 0 15 15
MTTP 0 0 7 3 5 15
MYH14 0 0 0 0 15 15
NEB, RIF1 0 0 1 1 13 15
TG 0 0 0 0 15 15
ZFYVE27 0 0 0 0 15 15
ABCA12 0 0 0 0 14 14
ACAD9 0 0 1 1 12 14
ACADM 0 0 2 1 11 14
ACVR1 0 0 0 0 14 14
ANK2, LOC126807137 0 0 0 0 14 14
ATP6V1B1 0 0 1 0 13 14
B3GLCT 0 0 0 0 14 14
CLN5, LOC130009913 4 0 6 1 3 14
COL17A1 0 0 0 0 14 14
CYBA 1 0 4 0 9 14
DNAAF5 0 0 0 0 14 14
DYNC2H1 0 0 0 0 14 14
GBE1 0 2 7 2 3 14
GNAT2 1 0 7 2 4 14
HEXA 0 0 3 3 8 14
HSD17B4 0 0 2 0 12 14
IDS, LOC106050102 6 3 2 1 2 14
MYO18B 0 0 0 0 14 14
NBAS 0 0 0 0 14 14
POLE 0 0 0 0 14 14
POMT1 0 0 0 0 14 14
RARS2 0 0 1 1 12 14
ABCA2 0 0 0 0 13 13
ABCC9 0 0 0 0 13 13
ACAT1 0 0 3 0 10 13
ADGRG1 0 0 2 0 11 13
ALDH4A1 0 0 0 0 13 13
ANK3 0 0 0 0 13 13
ARSA 1 1 7 0 4 13
ATP1A1 0 0 0 0 13 13
BBS2 0 1 5 1 6 13
BIN1 0 0 0 0 13 13
CC2D2A 0 0 0 0 13 13
COL6A1 0 0 0 0 13 13
DCLRE1C 0 0 7 1 5 13
FANCG 0 2 3 4 4 13
FREM1 0 0 0 0 13 13
FYCO1 0 0 0 0 13 13
IDUA 0 0 0 0 13 13
LOC101927055, TTN 0 0 0 0 13 13
MERTK 0 0 0 0 13 13
PIKFYVE 0 0 0 0 13 13
PLCG2 0 0 0 0 13 13
PNPLA6 0 0 0 0 13 13
RPGRIP1L 0 0 0 0 13 13
SBF1 0 0 0 0 13 13
TRIO 0 0 0 0 13 13
XYLT1 0 0 0 0 13 13
ADA, LOC107303343 4 2 1 1 4 12
BDP1 0 0 0 0 12 12
BTD 2 2 5 3 0 12
CCDC40 0 0 0 0 12 12
CFTR, LOC111674477 0 0 11 0 1 12
CNGB1 0 0 0 0 12 12
COL6A2 0 0 0 0 12 12
COL9A1 0 0 0 0 12 12
CR2, LOC126805994 1 0 9 2 0 12
DMXL2 0 0 0 0 12 12
FAT2 0 0 0 0 12 12
GLDC 0 0 1 0 11 12
GP6 0 0 0 0 12 12
HBB, LOC106099062, LOC107133510 10 0 1 0 1 12
HPS3 0 0 1 1 10 12
KNL1 0 0 0 0 12 12
LAMA2 0 0 0 0 12 12
LAMA4 0 0 0 0 12 12
LRP1 0 0 0 0 12 12
PLCB1 0 0 0 0 12 12
PXDN 0 0 0 0 12 12
SGCG 0 0 5 0 7 12
SLC39A4 0 0 1 1 10 12
SMCHD1 0 0 0 0 12 12
TONSL 0 0 0 0 12 12
TRIOBP 0 0 0 0 12 12
TUBB8 0 0 0 0 12 12
ABCG8 0 0 0 0 11 11
ACD 0 0 0 0 11 11
AIRE 0 0 1 2 8 11
ALDOB 3 0 2 3 3 11
CACNA1D 0 0 0 0 11 11
CBS 1 0 7 0 3 11
CNGB3 0 0 1 2 8 11
COQ8A 0 0 0 0 11 11
DDX11 0 0 0 0 11 11
DYNC2I1 0 0 0 0 11 11
FAM20C 0 0 0 0 11 11
FAT2, SLC36A1 0 0 0 0 11 11
FKTN 0 0 7 1 3 11
GRHPR 1 0 0 2 8 11
HERC1 0 0 0 0 11 11
HLCS 0 0 3 1 7 11
HSALR1, PIEZO1 0 0 0 0 11 11
KIAA1549 0 0 0 0 11 11
MKS1 0 1 4 0 6 11
NPHP4 0 0 0 0 11 11
PEX6 0 0 1 0 10 11
PIK3R5 0 0 0 0 11 11
PSAP 0 0 0 2 9 11
PTPRQ 0 0 0 0 11 11
RECQL4 0 0 0 0 11 11
RIPK4 0 0 0 0 11 11
RPE65 1 0 5 1 4 11
SIK1 0 0 0 0 11 11
SLC37A4 0 0 4 1 6 11
SMARCAL1 0 0 0 1 10 11
SPTBN4 0 0 0 0 11 11
TBCD 0 0 0 0 11 11
TECPR2 0 0 0 0 11 11
VCAN 0 0 0 0 11 11
VPS53 0 0 0 0 11 11
WHRN 0 0 0 0 11 11
WT1 0 0 0 0 11 11
ACTN2 0 0 0 0 10 10
ALS2 0 0 0 0 10 10
ANKLE2 0 0 0 0 10 10
ASPH 0 0 0 0 10 10
ATL3, LNCROPM 0 0 0 0 10 10
ATP2B3 0 0 0 0 10 10
ATP8B1 0 0 0 0 10 10
CAMK2B 0 0 0 0 10 10
CCDC50 0 0 0 0 10 10
CHD2 0 0 0 0 10 10
CLCN1 0 0 0 0 10 10
CLCN7 0 0 0 0 10 10
COL4A1 0 0 0 0 10 10
COL6A3 0 0 0 0 10 10
DNAH9 0 0 0 0 10 10
GALK1 0 1 4 2 3 10
GNPTG, LOC130058158 0 1 5 4 0 10
HADHA 0 0 2 1 7 10
HEXB 0 1 1 0 8 10
IRF7 0 0 0 0 10 10
IVD 0 0 2 0 8 10
KIF7 0 0 0 0 10 10
LOC129933535, SOS1 0 0 4 4 2 10
MAPK8IP3 0 0 0 0 10 10
MCCC1 0 0 6 1 3 10
MCPH1 0 0 0 0 10 10
NIN 0 0 0 0 10 10
OTOG 0 0 0 0 10 10
PDE11A 0 0 0 0 10 10
PFKM 0 0 4 2 4 10
PRODH 0 0 0 0 10 10
SEC63 0 0 0 0 10 10
SI 0 0 0 0 10 10
TPP1 0 1 2 1 6 10
YARS2 0 0 0 0 10 10
AARS2 0 0 0 0 9 9
ABAT 0 0 0 0 9 9
ACE 0 0 0 0 9 9
ADAMTSL2 0 0 0 0 9 9
AGA 0 0 4 0 5 9
ALG1 0 0 0 0 9 9
AQP2, AQP5 0 0 0 0 9 9
C10orf105, CDH23 0 0 1 2 6 9
CAMTA1 0 0 0 0 9 9
CDH3 0 0 0 0 9 9
CERKL 0 0 0 0 9 9
CFTR, LOC111674475 1 0 7 1 0 9
CHRNA4 0 0 0 0 9 9
CLCNKA, LOC106501712 0 0 0 0 9 9
COL1A1 0 0 0 0 9 9
DHTKD1 0 0 0 0 9 9
DLD 0 0 3 1 5 9
DOCK6 0 0 0 0 9 9
DYNC1H1 0 0 0 0 9 9
ECM1 1 1 1 2 4 9
ELAC2 0 0 0 0 9 9
F11 0 1 0 3 5 9
FANCD2, LOC107303338 0 0 0 0 9 9
FANCI 0 0 0 0 9 9
GALNS, LOC126862447 0 2 1 0 6 9
GLI2 0 0 0 0 9 9
HNF1A 0 0 0 0 9 9
KIAA0753 0 0 0 0 9 9
LIFR 0 0 0 0 9 9
LOC123956210, SLC26A4 5 1 1 2 0 9
LOC126806425, TTN 0 0 0 0 9 9
LRRC56 0 0 0 0 9 9
MMUT 1 0 4 1 3 9
MTHFR 0 1 0 1 7 9
MYBPC1 0 0 0 0 9 9
MYO5B 0 0 0 0 9 9
MYPN 0 0 0 0 9 9
MYSM1 0 0 0 0 9 9
NADSYN1 0 0 0 0 9 9
NDRG1 0 0 0 1 8 9
NEK10 0 0 0 0 9 9
PEX2 0 0 5 3 1 9
PLEKHG2 0 0 0 0 9 9
POLD1 0 0 0 0 9 9
PPT1 0 0 1 0 8 9
RTTN 0 0 0 0 9 9
SLC1A3 0 0 5 2 2 9
SLC6A17 0 0 2 2 5 9
SLC9A3 0 0 0 0 9 9
SON 0 0 0 0 9 9
SPEF2 0 0 0 0 9 9
SPG7 0 0 0 0 9 9
TAF2 0 0 0 0 9 9
TMPRSS6 0 0 0 0 9 9
TRPV3 0 0 0 0 9 9
VPS13C 0 0 0 0 9 9
WDR11 0 0 0 0 9 9
ALX4 0 0 0 0 8 8
ANGPTL3, DOCK7 1 0 2 3 2 8
AP2M1 0 0 0 1 7 8
ARSL 0 0 0 0 8 8
ATIC 0 0 0 0 8 8
ATP13A2 0 0 0 0 8 8
BBS12 0 0 5 2 1 8
BLK 0 0 0 0 8 8
CACNA1G 0 0 0 0 8 8
CCDC88C 0 0 0 0 8 8
CDH11 0 0 0 0 8 8
CDK5RAP2 0 0 0 0 8 8
CEP104 0 0 0 0 8 8
CEP164 0 0 0 0 8 8
CHAT 0 0 0 0 8 8
COL13A1 0 0 0 0 8 8
COL18A1 0 0 0 0 8 8
COL3A1 0 0 0 0 8 8
COL5A2 0 0 0 0 8 8
CTU2 0 0 1 0 7 8
CUX1 0 0 0 0 8 8
DNAI1 0 1 3 0 4 8
DOCK2 0 0 0 0 8 8
DSP 0 0 0 0 8 8
EMC1 0 0 0 0 8 8
F13A1 0 0 0 0 8 8
FAM161A 0 0 0 2 6 8
FANCA, ZNF276 0 0 4 0 4 8
FBP1 0 0 0 0 8 8
FKRP 1 0 3 1 3 8
FLT4 0 0 0 0 8 8
GJB2 4 1 3 0 0 8
HCFC1 0 0 0 0 8 8
IGHMBP2 0 0 0 0 8 8
KL 0 0 0 0 8 8
LGI4 0 0 0 0 8 8
LIPA 0 0 1 0 7 8
LOC126806427, TTN 0 0 0 0 8 8
LPL 0 1 6 0 1 8
LRP4 0 0 0 0 8 8
MAF, WWOX 0 0 0 0 8 8
MCCC2 2 1 4 0 1 8
MEGF8 0 0 0 0 8 8
MSC, TRPA1 0 0 0 0 8 8
MTRR 0 0 0 0 8 8
MYO5A 0 0 0 0 8 8
NAXE 0 0 0 0 8 8
NBEAL2 0 0 0 0 8 8
NCAPD2 0 0 0 0 8 8
NOBOX 0 0 0 0 8 8
OTOF 0 0 0 0 8 8
PDZD7 0 0 0 1 7 8
PSEN2 0 0 0 0 8 8
PYROXD1 0 0 0 0 8 8
RAPSN 0 0 1 0 7 8
RELN 0 0 0 0 8 8
SCN1A, SCN9A 0 0 0 0 8 8
SCN3A 0 0 0 0 8 8
SCN8A 0 0 0 0 8 8
SLC26A2 0 0 6 1 1 8
SLC52A3 0 0 0 0 8 8
SLC6A19 0 0 0 0 8 8
SLC6A5 0 0 0 0 8 8
TCIRG1 0 0 2 1 5 8
TELO2 0 0 0 0 8 8
TFRC 0 0 0 0 8 8
TGM6 0 0 0 0 8 8
TRAK1 0 0 0 0 8 8
TRDN 0 0 0 0 8 8
TRPM1 0 0 0 0 8 8
WDR72 0 0 0 0 8 8
WDR81 0 0 0 0 8 8
XYLT2 0 0 0 0 8 8
AAAS 0 0 0 0 7 7
ACO2 0 0 0 0 7 7
ACOX1 0 0 1 1 5 7
ADAM17, IAH1 0 0 0 0 7 7
ADAR, LOC126805874 1 0 2 3 1 7
ALDH18A1 0 0 0 0 7 7
ALDH3A2 0 0 0 1 6 7
ALG6 0 0 0 0 7 7
ANAPC1 0 0 0 0 7 7
ANKH, LOC100130744, OTULIN 0 0 0 0 7 7
APOA1 0 0 0 0 7 7
APOB 0 0 0 0 7 7
ASIC4, SPEG 0 0 0 0 7 7
ASNS, CZ1P-ASNS 0 0 1 1 5 7
ATAD3A 0 0 0 0 7 7
ATP6V0A2 0 0 0 0 7 7
ATP6V0A4 0 0 0 0 7 7
ATP8A2 0 0 0 0 7 7
ATRX 0 0 5 0 2 7
BBS4 0 0 0 0 7 7
BSND 1 0 0 0 6 7
CARD11 0 0 0 0 7 7
CARD14, SGSH 1 0 0 0 6 7
CCBE1 0 0 0 0 7 7
CD4 0 0 0 0 7 7
CNOT1 0 0 0 0 7 7
CYP17A1 0 0 0 3 4 7
DHX38 0 0 0 0 7 7
DST 0 0 0 0 7 7
FMN2 0 0 0 0 7 7
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 6 0 0 7
GALT 0 0 2 1 4 7
GEMIN4 0 0 0 0 7 7
GLB1 1 0 4 1 1 7
GNS 0 0 5 1 1 7
GRM6, ZNF454 0 0 0 0 7 7
HECW2 0 0 0 0 7 7
HPS4 0 0 0 0 7 7
IGSF1 0 0 0 0 7 7
ITPR2 0 0 0 0 7 7
LHB 0 0 0 0 7 7
LOC107982234, WT1 0 0 0 0 7 7
LOC126806422, TTN 0 0 0 0 7 7
LOC126862361, SLC12A3 2 1 1 0 3 7
LOC129391064, MAN2B1 5 0 0 2 0 7
LTBP4 0 0 0 0 7 7
MTOR 0 0 0 0 7 7
MTR 0 0 0 0 7 7
MYH11 0 0 0 0 7 7
MYH9 0 0 0 0 7 7
NAGS 0 0 1 1 5 7
OAT 1 0 1 0 5 7
PCARE 0 0 0 0 7 7
PCK1 0 0 0 0 7 7
PCLO 0 0 0 0 7 7
PCSK9 0 0 0 0 7 7
PEX10 0 0 2 1 4 7
PLG 0 0 0 0 7 7
PMM2 1 0 0 0 6 7
POLR1A 0 0 0 0 7 7
POLR2A 0 0 0 0 7 7
PTPN14 0 0 0 0 7 7
PYGL 0 0 0 0 7 7
REEP6 0 0 0 0 7 7
SCAPER 0 0 0 0 7 7
SCN10A 0 0 0 0 7 7
SEMA3E 0 0 0 0 7 7
SLC2A9 0 0 0 0 7 7
SLC44A4 0 0 0 0 7 7
STXBP2 0 0 0 0 7 7
TBCEL-TECTA, TECTA 0 0 0 0 7 7
TEK 0 0 0 0 7 7
TJP2 0 0 0 0 7 7
TNIK 0 0 0 0 7 7
TRAPPC9 0 0 0 0 7 7
TRPM6 0 0 0 0 7 7
VLDLR 0 0 0 0 7 7
ABCA3 0 0 0 0 6 6
ABCB4 0 0 0 0 6 6
AMACR, C1QTNF3-AMACR 0 0 0 0 6 6
AQP2 0 0 1 0 5 6
ATF6 0 0 0 0 6 6
ATR, LOC126806830 0 0 3 3 0 6
AXIN2 0 0 0 0 6 6
BBS1, ZDHHC24 0 0 1 0 5 6
BFSP1 0 0 0 0 6 6
BGN 0 0 0 0 6 6
CDIN1 0 0 0 0 6 6
CDON 0 0 0 0 6 6
CHD5 0 0 0 0 6 6
CHRNA3 0 0 0 0 6 6
CIT 0 0 0 0 6 6
CNTNAP2 0 0 0 0 6 6
COL12A1 0 0 0 0 6 6
COL9A3 0 0 0 0 6 6
CTSA 0 0 0 0 6 6
CYFIP2 0 0 0 0 6 6
DCC 0 0 0 0 6 6
DCHS1 0 0 0 0 6 6
DDHD1 0 0 0 0 6 6
DIP2B 0 0 0 0 6 6
DNM1L 0 0 0 0 6 6
DNMBP 0 0 0 0 6 6
DNMT1 0 0 0 0 6 6
EARS2 0 0 0 0 6 6
EDAR, RANBP2 0 0 0 0 6 6
EGFR 0 0 0 0 6 6
EIF2AK3 0 0 0 0 6 6
EIF2AK4 0 0 0 0 6 6
EIF2B5 1 0 5 0 0 6
EPG5 0 0 0 0 6 6
EPHA2 0 0 0 0 6 6
ERCC2 0 0 0 0 6 6
ERCC6 0 1 0 0 5 6
FANCM 0 0 0 0 6 6
FERMT1 0 0 0 0 6 6
FGD4 0 0 0 0 6 6
FIG4 0 0 0 0 6 6
GPHN, RDH12 1 0 2 0 3 6
GRIP1 0 0 0 0 6 6
GSDME 0 0 0 0 6 6
GUCY2C 0 0 0 0 6 6
GUF1 0 0 0 0 6 6
GYS2 0 0 0 0 6 6
HK1 0 0 0 0 6 6
IFT140 0 0 0 0 6 6
INF2 0 0 0 0 6 6
INPP5E 0 0 0 0 6 6
IRAK1BP1, PHIP 0 0 0 0 6 6
IREB2 0 0 0 0 6 6
ISG15 0 0 0 0 6 6
ITPR1 0 0 0 0 6 6
KIAA0586 0 0 0 0 6 6
KMT2B 0 0 0 0 6 6
LARS2 0 0 0 0 6 6
LCT 0 0 0 0 6 6
LHX3 0 0 0 0 6 6
LOC126806420, TTN 0 0 0 0 6 6
LOC126806423, TTN 0 0 0 0 6 6
LOC126806429, TTN 0 0 0 0 6 6
LOC126806430, TTN 0 0 0 0 6 6
LOC129935183, TTN 0 0 0 0 6 6
LOC130009366, SACS 0 0 1 4 1 6
LSS 0 1 0 0 5 6
MANBA 0 0 0 0 6 6
MED12 0 0 0 0 6 6
MED12L, P2RY12 0 0 0 0 6 6
MMAA 0 0 5 1 0 6
MMP2 0 0 0 0 6 6
MYLK 0 0 0 0 6 6
NDNF 0 0 0 0 6 6
NME8 0 0 0 0 6 6
NUP188 0 0 0 0 6 6
NUP88 0 0 0 0 6 6
PCDH12, RNF14 0 0 0 0 6 6
PDHB 0 0 3 0 3 6
PDSS1 0 0 0 0 6 6
PEX7 0 0 1 1 5 6
PIGG 0 0 0 0 6 6
PIGN 0 0 0 0 6 6
PIK3C2A 0 0 0 0 6 6
PLCE1 0 0 0 0 6 6
PLOD2 0 0 0 0 6 6
PNPLA1 0 0 0 0 6 6
PNPT1 0 0 0 0 6 6
POR 0 0 0 0 6 6
PRKCD 0 0 0 0 6 6
RAG2 0 1 4 0 1 6
RIC3, TUB 0 0 0 0 6 6
ROBO3 0 0 0 0 6 6
SARS2 0 0 0 0 6 6
SASS6 0 0 0 1 5 6
SCARF2 0 0 0 0 6 6
SCN2A 0 0 0 0 6 6
SCNN1G 0 0 0 0 6 6
SEC23B 0 0 0 0 6 6
SEC31A 0 0 0 0 6 6
SERPINH1 0 0 0 0 6 6
SFXN4 0 0 0 0 6 6
SH3PXD2B 0 0 0 0 6 6
SLC1A2 0 0 0 0 6 6
SLC22A12 0 0 0 0 6 6
SLC25A13 0 0 4 0 2 6
SLC29A3 0 0 0 0 6 6
SLC30A9 0 0 0 0 6 6
SPNS2 0 0 0 0 6 6
ST14 0 0 0 0 6 6
STAG3 0 0 0 0 6 6
TKT 0 0 0 0 6 6
TNNT3 0 0 0 0 6 6
TNRC6A 0 0 0 0 6 6
TNXB 0 0 0 0 6 6
TOP3A 0 0 0 0 6 6
TSEN54 0 0 0 0 6 6
TTC21B 0 0 0 0 6 6
TUBGCP2 0 0 0 0 6 6
TUBGCP6 0 0 0 0 6 6
UNC13D 0 0 0 0 6 6
UNC80 0 0 0 0 6 6
VAC14 0 0 0 0 6 6
VARS2 0 0 0 0 6 6
WDR35 0 0 0 0 6 6
YEATS2 0 0 0 0 6 6
YME1L1 0 0 0 0 6 6
AAGAB 0 0 0 0 5 5
ABCD4 0 0 0 0 5 5
ABHD12 0 0 0 0 5 5
ACSF3, LOC125177393 0 0 1 0 4 5
ACTG1, LOC130061940 0 0 0 0 5 5
ADCY1 0 0 0 0 5 5
ADSS1 0 0 0 0 5 5
AEBP1 0 0 0 0 5 5
AFF2 0 0 0 0 5 5
AGPS 0 0 1 0 4 5
ALG8 0 0 0 0 5 5
ALKBH8 0 0 0 0 5 5
ALMS1, LOC126806252 0 0 1 1 3 5
ANK2, LOC126807136 0 0 0 0 5 5
ANKRD26, LOC130003554 0 0 0 0 5 5
ANO10 0 0 0 0 5 5
AP5Z1 0 0 0 0 5 5
ARFGEF2 0 0 0 0 5 5
ARNT2 0 0 0 0 5 5
ARSB 0 2 2 1 0 5
B9D2 0 0 0 0 5 5
BCS1L 0 0 1 0 4 5
BEST1 0 0 0 0 5 5
CACNA1F 0 0 0 0 5 5
CAMK2A 0 0 0 0 5 5
CAMK2G 0 0 0 0 5 5
CARS2 0 0 0 0 5 5
CASR 0 0 0 0 5 5
CCDC78 0 0 0 0 5 5
CCDC88A 0 0 0 0 5 5
CERS3 0 0 0 0 5 5
CFAP69 0 0 0 0 5 5
CFI 0 0 0 0 5 5
CHD7 0 0 0 0 5 5
COG1 0 0 0 0 5 5
COL27A1, LOC126860736 0 0 0 0 5 5
COLQ 0 0 0 0 5 5
CSF1R 0 0 0 0 5 5
CTC1, PFAS 0 0 4 1 0 5
CWC27 0 0 0 0 5 5
CYP1B1 1 1 0 0 3 5
CYP21A2, LOC106780800 0 0 0 0 5 5
CYP4F22 0 0 0 0 5 5
D2HGDH 0 0 0 0 5 5
DDC 0 0 0 0 5 5
DEAF1 0 0 0 0 5 5
DLAT 0 0 0 0 5 5
DVL1 0 0 0 0 5 5
EMD 0 0 5 0 0 5
EPRS1 0 0 0 0 5 5
ERCC4 0 0 0 0 5 5
ETFA 0 0 1 0 4 5
ETFDH 1 0 3 0 1 5
EYA1 0 0 0 0 5 5
F12 0 0 0 0 5 5
FBXO38 0 0 0 0 5 5
FDFT1 0 0 0 0 5 5
FIGLA 0 0 0 0 5 5
FREM2 0 0 0 0 5 5
GNE 1 0 1 1 3 5
GRM1 0 0 0 0 5 5
H6PD 0 0 0 0 5 5
HAAO 0 0 0 0 5 5
HACE1 0 0 0 0 5 5
HBA-LCR, NPRL3 0 0 0 0 5 5
HBB, LOC107133510, LOC110006319 0 1 1 0 3 5
HERC2 0 0 0 0 5 5
HGSNAT 0 0 1 1 3 5
HOGA1 0 0 0 2 3 5
IL12RB1 0 0 0 0 5 5
IL7R 0 0 0 0 5 5
INSR 0 0 0 0 5 5
ITGA7 0 0 0 0 5 5
ITGB2 0 0 0 0 5 5
JAG1 0 0 0 0 5 5
JUP 0 0 0 0 5 5
KCNH2 0 0 0 0 5 5
KCNJ5 0 0 0 0 5 5
KDM5B 0 0 0 0 5 5
KIF4A 0 0 0 0 5 5
KRT13 0 0 0 0 5 5
KRT6A 0 0 0 0 5 5
LCA5 0 0 0 0 5 5
LOC110121288, SCN10A 0 0 0 0 5 5
LOC126806421, TTN 0 0 0 0 5 5
LOC126806424, TTN 0 0 0 0 5 5
LOC126861980, SMOC1 0 0 0 0 5 5
LOC126862902, RYR1 0 0 0 0 5 5
MAP3K20 0 0 0 0 5 5
MET 0 0 0 0 5 5
MMP9, SLC12A5 0 0 0 0 5 5
MSH4 0 0 0 0 5 5
MYBPC3 0 0 0 0 5 5
MYH11, NDE1 0 0 0 0 5 5
MYH2, MYHAS 0 0 0 0 5 5
NALCN 0 0 0 0 5 5
NCAPD3 0 0 0 0 5 5
NDST1 0 0 0 0 5 5
NDUFS6 0 0 0 0 5 5
NEFH 0 0 0 0 5 5
NUP205 0 0 0 0 5 5
ODAD2 0 0 0 0 5 5
OTOA 0 0 0 0 5 5
OTOGL 0 0 0 0 5 5
P3H2 0 0 0 0 5 5
PDE1C 0 0 0 0 5 5
PDE4D 0 0 0 0 5 5
PDGFRB 0 0 0 0 5 5
PHC1 0 0 0 0 5 5
PLEKHG5 0 0 0 0 5 5
POLG 0 0 0 0 5 5
PPA2 0 0 0 0 5 5
PRDM16 0 0 0 0 5 5
PRMT7 0 0 0 0 5 5
PROM1 0 0 0 0 5 5
PRPH2 0 0 0 0 5 5
RAPGEF2 0 0 0 0 5 5
RARS1 0 0 0 0 5 5
RASGRP2 0 0 0 0 5 5
RBCK1 0 0 0 0 5 5
RBM20 0 0 0 0 5 5
RCBTB1 0 0 0 0 5 5
RET 0 0 0 0 5 5
RIGI 0 0 0 0 5 5
ROR2 0 0 0 0 5 5
SCN11A 0 0 0 0 5 5
SDCCAG8 0 0 0 0 5 5
SELENON 0 0 0 0 5 5
SEMA6B 0 0 0 0 5 5
SERPINB6 0 0 0 0 5 5
SH3BP2 0 0 0 0 5 5
SH3TC2 0 0 0 0 5 5
SLC45A1 0 0 0 0 5 5
SLCO1B3, SLCO1B3-SLCO1B7 0 0 0 0 5 5
SMARCA2 0 0 0 0 5 5
SP110, SP140 0 0 0 0 5 5
SPTLC2 0 0 0 0 5 5
TBX2 0 0 0 0 5 5
TENM3 0 0 0 0 5 5
THOC2 0 0 0 1 4 5
TKFC 0 0 0 0 5 5
TMPRSS3 0 1 0 0 4 5
TRAPPC12 0 0 0 0 5 5
TRIP12 0 0 0 0 5 5
TSHR 0 0 0 0 5 5
TTC7A 0 0 0 0 5 5
TULP1 0 0 0 0 5 5
TXNRD2 0 0 0 0 5 5
TYK2 0 0 0 0 5 5
USP45 0 0 0 0 5 5
VPS11 0 0 0 0 5 5
WDR36 0 0 0 0 5 5
WDR4 0 0 0 0 5 5
ZNF462 0 0 0 0 5 5
ABCA1 0 0 0 0 4 4
ABCC2 0 0 0 0 4 4
ACADSB 0 0 0 0 4 4
ACTG2 0 0 0 0 4 4
ADAMTS10 0 0 0 0 4 4
AFG3L2 0 0 0 0 4 4
AHI1 0 0 0 0 4 4
AICDA 0 0 0 0 4 4
ALOXE3 0 0 0 0 4 4
AMT 0 1 0 1 2 4
ANK1, LOC124153154 0 0 0 0 4 4
ANTXR2 0 0 0 0 4 4
AP4M1 0 0 0 0 4 4
AP4S1 0 0 0 0 4 4
ATP1A2, LOC126805890 0 0 0 0 4 4
ATP7A 0 0 2 0 2 4
B4GALT7 0 0 0 0 4 4
BBS1 0 0 1 0 3 4
BBS9 0 0 0 0 4 4
BLTP1 0 0 0 0 4 4
BRWD3 0 0 0 0 4 4
BSCL2, HNRNPUL2-BSCL2 0 0 0 0 4 4
BTK 0 0 0 0 4 4
BUB1B 0 0 0 0 4 4
CA8 0 0 0 0 4 4
CAPN1 0 0 0 0 4 4
CARD14 0 0 0 0 4 4
CCDC174 0 0 0 0 4 4
CDHR1 0 0 0 0 4 4
CDT1 0 0 0 0 4 4
CENPE 0 0 0 0 4 4
CHCHD10 0 0 0 0 4 4
CHRNA1 0 0 0 0 4 4
CHRNE 0 0 0 0 4 4
COG4 0 0 0 0 4 4
COL1A2 0 0 0 0 4 4
CRYGD, LOC100507443 1 0 0 0 3 4
DBH 0 0 0 0 4 4
DCDC2 0 0 0 0 4 4
DDOST 0 0 0 0 4 4
DDR2 0 0 0 0 4 4
DNAAF1 0 0 0 0 4 4
DRC1 0 0 0 0 4 4
DRC2 0 0 0 0 4 4
DZIP1L 0 0 0 0 4 4
ECEL1 0 0 0 0 4 4
EDA 0 0 1 0 3 4
EFEMP1 0 0 0 0 4 4
EFEMP2 0 0 0 0 4 4
EFL1 0 0 0 0 4 4
EOGT 0 0 0 0 4 4
EP300 0 0 0 0 4 4
EPHB4 0 0 0 0 4 4
EPS8L2 0 0 0 0 4 4
ERBB3 0 0 0 0 4 4
ESRP1 0 0 0 0 4 4
EXPH5 0 0 0 0 4 4
EZH2 0 0 0 0 4 4
FANCC 0 0 1 1 2 4
FBN2 0 0 0 0 4 4
FGB 0 0 0 0 4 4
FGF9 0 0 0 0 4 4
FRMD7 0 0 0 0 4 4
GABBR2 0 0 0 0 4 4
GABRA5 0 0 0 0 4 4
GALK1, ITGB4 0 0 0 0 4 4
GATAD1, PEX1 0 1 3 0 0 4
GCDH, LOC117125594 0 0 0 0 4 4
GOT2 0 0 0 0 4 4
GRIA3 0 0 0 0 4 4
GRIN1 0 0 0 0 4 4
GRIN2B 0 0 0 0 4 4
GTPBP3 0 0 0 0 4 4
GUSB 0 0 0 0 4 4
HYDIN 0 0 0 0 4 4
HYLS1, PUS3 0 0 0 0 4 4
IFT122 0 0 0 0 4 4
IFT140, LOC105371046 0 0 0 0 4 4
IL2RB 0 0 0 0 4 4
IL2RG 0 0 2 2 0 4
IL31RA 0 0 0 0 4 4
IRF2BPL 0 0 0 0 4 4
KBTBD13 0 0 0 0 4 4
KCNA1 0 0 0 0 4 4
KDM3B 0 0 0 0 4 4
KIF1B 0 0 0 0 4 4
KRT9 0 0 0 0 4 4
LINGO1 0 0 0 0 4 4
LOC107985033, SLFN14 0 0 0 0 4 4
LOC126806428, TTN 0 0 0 0 4 4
LOC126806431, TTN 0 0 0 0 4 4
LOC126807619, NSD1 4 0 0 0 0 4
LOC126862457, VPS53 0 0 0 0 4 4
LOC129931761, NDUFS2 0 0 1 1 2 4
LOC129994569, MIR3936HG, SLC22A5 1 0 0 0 3 4
LOC130003020, NOTCH1 0 0 3 0 1 4
LOC130061900, SGSH 1 1 2 0 0 4
LOC130063650, MAN2B1 0 1 3 0 0 4
LRSAM1 0 0 0 0 4 4
LTBP2 0 0 0 0 4 4
MAGED2 0 0 0 0 4 4
MED17 0 0 0 0 4 4
MMAB 1 0 2 0 1 4
MPI 0 0 0 0 4 4
MPL 2 0 2 0 0 4
MYT1L 0 0 0 0 4 4
NAGLU 0 0 1 0 3 4
NFASC 0 0 0 0 4 4
NKAP 0 0 0 0 4 4
NPC2 0 1 3 0 0 4
NR3C2 0 0 0 0 4 4
NUP85 0 0 0 0 4 4
NUP93 0 0 0 0 4 4
OPA1 0 0 0 0 4 4
OSBPL2 0 0 0 0 4 4
P2RX2 0 0 0 0 4 4
PAX2 0 0 0 0 4 4
PDE3A 0 0 0 0 4 4
PGM1 0 0 0 0 4 4
PHYH 0 0 0 0 4 4
PIGT 0 0 0 0 4 4
PINK1 0 0 0 0 4 4
PIP5K1C 0 0 0 0 4 4
PITPNM3 0 0 0 0 4 4
PLCB4 0 0 0 0 4 4
PLIN1 0 0 0 0 4 4
PMS2 0 0 0 0 4 4
PNP 0 0 0 0 4 4
POMT2 0 0 0 0 4 4
PRKAR1A 0 0 0 0 4 4
PRKD1 0 0 0 0 4 4
PROP1 0 0 0 0 4 4
PSAT1 0 0 0 0 4 4
PUS7 0 0 0 0 4 4
RAB23 0 1 0 2 1 4
RAI1 0 0 0 0 4 4
RALGAPA1 0 0 0 0 4 4
REEP1 0 0 0 0 4 4
RERE 0 0 0 0 4 4
RFC1 0 0 0 0 4 4
RHBDF2 0 0 0 0 4 4
RIPOR2 0 0 0 0 4 4
ROR1 0 0 0 0 4 4
SALL4 0 0 0 0 4 4
SDHA 0 0 0 0 4 4
SEC23A 0 0 0 0 4 4
SEC24D 0 0 0 0 4 4
SERPINB8 0 0 0 0 4 4
SFRP4 0 0 0 0 4 4
SFTPA2 0 0 0 0 4 4
SFTPB 0 0 0 0 4 4
SGCB 0 0 2 1 1 4
SGPL1 0 0 0 0 4 4
SHROOM4 0 0 0 0 4 4
SIK3 0 0 0 0 4 4
SKIC2 0 0 0 0 4 4
SLC18A2 0 0 0 0 4 4
SLC25A15 0 0 0 0 4 4
SLC25A26 0 0 0 0 4 4
SLC34A2 0 0 0 0 4 4
SLC39A14 0 0 0 0 4 4
SLC4A4 0 0 0 0 4 4
SLC52A1 0 0 0 0 4 4
SLC6A20 0 0 0 0 4 4
SLCO1B1 0 0 0 0 4 4
SMARCAD1 0 0 0 0 4 4
SMO 0 0 0 0 4 4
SMPD4 0 0 0 0 4 4
SPRED1 0 0 0 0 4 4
SPTBN2 0 0 0 0 4 4
STAR 0 0 2 0 2 4
TAF6 0 0 0 0 4 4
TAP2 0 0 0 0 4 4
TBL1X 0 0 0 0 4 4
THTPA, ZFHX2 0 0 0 0 4 4
TIMM50 0 0 0 0 4 4
TMC8 0 0 0 0 4 4
TMEM106B 0 0 0 0 4 4
TMEM216 0 0 0 0 4 4
TMEM260 0 0 0 0 4 4
TRAPPC11 0 0 0 0 4 4
TRNT1 0 0 0 0 4 4
TTC12 0 0 0 0 4 4
TUBB6 0 0 0 0 4 4
VCL 0 0 0 0 4 4
VCP 0 0 0 0 4 4
VRK1 0 0 0 0 4 4
VWA3B 0 0 0 0 4 4
WBP2 0 1 0 0 3 4
XRCC1 0 0 0 0 4 4
ABCA12, SNHG31 0 0 0 0 3 3
ACADVL, DLG4 0 0 2 0 1 3
ACBD5 0 0 0 0 3 3
ACP5 0 0 0 0 3 3
ACVR2B 0 0 0 0 3 3
ADAM22 0 0 0 0 3 3
ADAMTS3 0 0 0 0 3 3
ADAMTSL4, LOC129931410 0 0 2 1 0 3
AGPAT2 0 0 0 0 3 3
AHSG 0 0 0 0 3 3
ALOX12B 0 0 0 0 3 3
ANKS6 0 0 0 0 3 3
AOPEP, FANCC 0 0 0 2 1 3
APTX 0 0 0 0 3 3
ARCN1 0 0 0 0 3 3
ARHGEF2 0 0 0 0 3 3
ARSB, LOC129994126 0 0 2 0 1 3
ARSG 0 0 0 0 3 3
BAG3 0 0 0 0 3 3
BBS10 0 1 1 1 0 3
BCOR 0 0 0 0 3 3
BLNK 0 0 0 0 3 3
BMP4 0 0 0 0 3 3
BMPER 0 0 0 0 3 3
C9orf72 0 0 0 0 3 3
CA5A 0 0 0 0 3 3
CABP4 0 0 0 0 3 3
CACNA1B 0 0 0 0 3 3
CAPN1, LOC126861236 0 0 0 0 3 3
CAST 0 0 0 0 3 3
CCDC22 0 0 0 0 3 3
CDC14A 0 0 0 0 3 3
CDH1 0 0 0 0 3 3
CENPT 0 0 0 0 3 3
CEP63, KY 0 0 0 0 3 3
CFTR, LOC113664106 0 1 2 0 0 3
CHD3 0 1 0 0 2 3
CHD4 0 0 0 0 3 3
CLDN16 0 0 0 0 3 3
CNGA1, LOC101927157 0 0 0 0 3 3
CNTN2 0 0 0 0 3 3
COG5 0 0 0 0 3 3
COG6 0 0 0 0 3 3
COL18A1, SLC19A1 0 0 0 0 3 3
COPB2 0 0 0 0 3 3
COQ6, ENTPD5 0 0 0 0 3 3
CP 0 0 0 0 3 3
CP, HPS3 0 0 0 0 3 3
CPLX1 0 0 0 0 3 3
CRBN 0 0 0 0 3 3
CRYBB2 0 1 0 0 2 3
CTH 0 0 2 0 1 3
CTPS1 0 0 0 0 3 3
CTSF 0 0 0 0 3 3
CYC1 0 0 0 0 3 3
CYP1B1, LOC128772254 0 0 0 0 3 3
CYP4V2 0 0 0 0 3 3
DAG1 0 0 0 0 3 3
DEAF1, LOC126861109 0 0 0 0 3 3
DENND5A 0 0 0 0 3 3
DEPDC5 0 0 0 0 3 3
DES 0 0 0 0 3 3
DHODH 0 0 0 0 3 3
DICER1 0 0 0 0 3 3
DKC1 0 0 0 0 3 3
DLL3 0 0 0 0 3 3
DLX3 0 0 0 0 3 3
DMP1 0 0 0 0 3 3
DMP1, DSPP 0 0 0 0 3 3
DNAH1 0 0 0 0 3 3
DNMT3B 0 0 0 0 3 3
DPH1 0 0 0 0 3 3
DYNC2I2 0 0 0 0 3 3
ECHS1 0 0 0 0 3 3
EDARADD 0 0 0 0 3 3
EFTUD2 0 0 0 0 3 3
EHMT1 0 0 0 0 3 3
ELN 0 0 0 0 3 3
ERBB4 0 0 0 0 3 3
ESCO2 0 0 0 1 2 3
ETHE1 0 0 2 0 1 3
F10 0 0 0 0 3 3
F13B 0 0 0 0 3 3
F8 0 0 0 0 3 3
F9 0 1 0 1 1 3
FANCE 0 0 0 0 3 3
FECH 0 0 0 0 3 3
FLVCR2 0 0 0 0 3 3
FMO3, LOC126805916 0 0 0 0 3 3
FOXN1 0 0 0 0 3 3
FUS 0 0 0 0 3 3
G6PC1 0 0 2 0 1 3
GAMT 0 0 0 0 3 3
GARS1 0 0 0 0 3 3
GATA2 0 0 0 0 3 3
GATA5 0 0 0 0 3 3
GCDH 0 0 1 1 1 3
GFPT1 0 0 0 0 3 3
GGA3, MRPS7 0 0 0 0 3 3
GLE1 0 0 0 0 3 3
GLI1 0 0 0 0 3 3
GM2A 0 0 0 0 3 3
GPC4 0 0 0 0 3 3
GPSM2 0 0 0 0 3 3
GRHL2 0 0 0 0 3 3
GSN 0 0 0 0 3 3
GSX2 0 0 0 0 3 3
HEPHL1 0 0 0 0 3 3
HMCN1, LOC129388665 0 0 0 3 0 3
HPSE2 0 0 0 0 3 3
HR 0 0 0 0 3 3
HRG 0 0 0 0 3 3
HSPG2, LDLRAD2 0 0 0 0 3 3
HTRA1 0 0 0 0 3 3
HUWE1 0 0 0 0 3 3
HYOU1 0 0 0 0 3 3
ICOS 0 0 0 0 3 3
IDUA, SLC26A1 0 0 0 0 3 3
IFNAR2, IFNAR2-IL10RB 0 0 0 0 3 3
IFT172 0 0 0 0 3 3
IFT74 0 0 0 0 3 3
IHH 0 0 0 0 3 3
IL17RC 0 0 0 0 3 3
IL17RD 0 0 0 0 3 3
IL4I1, NUP62 0 0 0 0 3 3
IMPG2 0 0 0 0 3 3
INTS8 0 0 0 0 3 3
IRF6 0 0 0 0 3 3
ISCU 0 0 0 0 3 3
ITGA2B 0 0 0 0 3 3
ITGA6, PDK1 0 0 0 0 3 3
ITGA8 0 0 0 0 3 3
ITPA 0 0 0 0 3 3
KCNJ11 1 0 0 1 1 3
KCNQ2 0 0 0 0 3 3
KDM6A 0 0 0 0 3 3
KIDINS220 0 0 0 0 3 3
KIF14 0 0 0 0 3 3
KIRREL2, NPHS1 0 0 1 1 1 3
KLC2 0 0 0 0 3 3
KLHL3 0 0 0 0 3 3
KRT6B 0 0 0 0 3 3
LBR 0 0 0 0 3 3
LDHA 0 0 0 0 3 3
LIPT2 0 0 0 0 3 3
LMX1B 0 0 0 0 3 3
LOC105378311, PCDH15 0 0 1 0 2 3
LOC106780803, TNXB 0 0 0 0 3 3
LOC126860392, RP1 0 0 0 0 3 3
LOC126860531, NDRG1 0 0 0 0 3 3
LOC129936244, XPC 0 0 0 0 3 3
LOC130056973, SPG11 1 0 2 0 0 3
LOC130063648, MAN2B1 1 1 1 0 0 3
LOC130067862, SCO2, TYMP 0 0 0 0 3 3
LPIN1 0 0 0 0 3 3
LRMDA 0 0 0 0 3 3
MADD 0 0 0 0 3 3
MAGI2 0 0 0 0 3 3
MAOA 0 0 0 0 3 3
MAP2K2 0 0 0 0 3 3
MECR 0 0 0 0 3 3
MILR1, POLG2 0 0 0 0 3 3
MMP9 0 0 0 0 3 3
MPDZ 0 0 0 0 3 3
MTHFD1 0 0 0 0 3 3
MUC5B 0 0 0 2 1 3
MYH8, MYHAS 0 0 0 0 3 3
MYMK 0 0 0 0 3 3
MYO1E 0 0 0 0 3 3
MYO6 0 0 0 0 3 3
MYO9A 0 0 0 0 3 3
NDUFA10 0 0 0 0 3 3
NDUFAF4 0 0 0 0 3 3
NDUFAF5 0 0 0 0 3 3
NDUFAF6 0 0 0 0 3 3
NDUFS1 0 0 0 0 3 3
NDUFS4 0 0 0 0 3 3
NEK1 0 0 0 0 3 3
NEK9 0 0 0 0 3 3
NFKB1 0 0 0 0 3 3
NLRP1 0 0 0 0 3 3
NLRP12 0 0 0 0 3 3
NLRP3 0 0 0 0 3 3
NNT 0 0 0 0 3 3
NOTCH2 0 0 0 0 3 3
NR2E3 0 0 1 0 2 3
NTNG2 0 0 0 0 3 3
NTRK1, SH2D2A 0 0 0 0 3 3
NUP107 0 0 0 0 3 3
ORC4 0 0 0 0 3 3
OSGEP 0 0 0 0 3 3
PCCB 0 0 1 0 2 3
PDE6B 1 0 0 0 2 3
PDXK 0 0 0 0 3 3
PEX14 0 0 0 0 3 3
PEX16 0 0 0 0 3 3
PHIP 0 0 0 0 3 3
PIGB 0 0 0 0 3 3
PIGK 0 0 0 0 3 3
PIGO 0 0 0 0 3 3
PIK3R1 0 0 0 0 3 3
PIK3R2 0 0 0 0 3 3
PKD1 0 0 0 0 3 3
PNPLA2 0 0 0 0 3 3
POMGNT1 0 0 1 1 1 3
POPDC1 0 0 0 0 3 3
PPP1R3A 0 0 0 0 3 3
PRG4 0 0 0 0 3 3
PRKCG 0 0 0 0 3 3
PRKG1 0 0 0 0 3 3
PROC 0 0 0 0 3 3
PRX 0 0 0 0 3 3
PSMB4 0 0 0 0 3 3
PTCH2 0 0 0 0 3 3
PTDSS1 0 0 0 0 3 3
PUM1 0 0 0 0 3 3
QRICH2 0 0 0 0 3 3
QRSL1 0 0 0 0 3 3
RAB3GAP2 0 0 0 0 3 3
RAD21 0 0 0 0 3 3
RB1 0 0 0 0 3 3
RBBP8 0 0 0 0 3 3
RELN, SLC26A5 0 0 0 0 3 3
RETREG1 0 0 0 0 3 3
RFWD3 0 0 0 0 3 3
RHO 0 0 0 0 3 3
RHOBTB2 0 0 0 0 3 3
RIC1 0 0 0 0 3 3
RIMS1 0 0 0 0 3 3
RIN2 0 0 0 1 2 3
RMND1 0 0 0 0 3 3
RNF168 0 0 0 0 3 3
RP1 0 0 0 0 3 3
RP9 0 0 0 0 3 3
RPGR 0 0 0 0 3 3
RPSA 0 0 0 0 3 3
RSPH1 0 0 0 0 3 3
SACK1H 0 0 0 0 3 3
SAG 0 0 0 0 3 3
SALL1 0 0 0 0 3 3
SCN9A 0 0 0 0 3 3
SCYL2 0 0 0 0 3 3
SDHD 0 0 0 0 3 3
SEPSECS 0 0 1 0 2 3
SERPINC1 0 0 0 0 3 3
SFTPC 0 0 0 0 3 3
SIX5 0 0 0 0 3 3
SKIC3 0 0 0 0 3 3
SLC11A2 0 0 0 0 3 3
SLC12A5 0 0 0 0 3 3
SLC25A21 0 0 0 0 3 3
SLC25A38 0 0 0 0 3 3
SLC36A2 0 0 0 0 3 3
SLC40A1 0 0 0 0 3 3
SLC5A5 0 0 0 0 3 3
SLC6A3 0 0 0 0 3 3
SLC6A8 0 0 0 0 3 3
SLC9A1 0 0 0 0 3 3
SLC9A7 0 0 0 0 3 3
SLFN14 0 0 0 0 3 3
SLX4 0 0 0 0 3 3
SORD 0 0 0 0 3 3
SPAG1 0 0 0 0 3 3
SPARC 0 0 0 0 3 3
SPECC1L, SPECC1L-ADORA2A 0 0 0 0 3 3
SPEN 0 0 0 0 3 3
SQSTM1 0 0 0 0 3 3
SRCAP 0 0 0 0 3 3
SRD5A2 0 0 0 0 3 3
ST3GAL3 0 0 0 0 3 3
STIL 0 0 0 0 3 3
STIM1 0 0 0 0 3 3
STN1 0 0 0 0 3 3
STT3A 0 0 0 0 3 3
STX1B 0 0 0 0 3 3
SUFU 0 0 0 0 3 3
SYNJ1 0 0 0 0 3 3
SYT2 0 0 0 0 3 3
TAPBP 0 0 0 0 3 3
TAPBPL, VAMP1 0 0 0 0 3 3
TARS1 0 0 0 0 3 3
TBC1D20 0 0 0 0 3 3
TBX20 0 0 0 0 3 3
TCF4 0 0 0 0 3 3
TCN2 0 0 0 0 3 3
TCTN2 0 0 0 0 3 3
TENM4 0 0 0 0 3 3
TET3 0 0 0 0 3 3
TK2 0 0 0 0 3 3
TMEM43 0 0 0 0 3 3
TMEM63A 0 0 0 0 3 3
TNFRSF13B 0 0 0 0 3 3
TNPO3 0 0 0 0 3 3
TP73 0 0 0 0 3 3
TRH 0 0 0 0 3 3
TRIM2 0 0 0 0 3 3
TRIP11 0 0 0 0 3 3
TRPM4 0 0 0 0 3 3
TSFM 0 0 2 0 1 3
TSHZ1 0 0 0 0 3 3
TSPAN12 0 0 0 0 3 3
TTI2 0 0 0 0 3 3
TUFM 0 0 0 0 3 3
UBA1 0 0 0 0 3 3
UBR1 0 0 0 0 3 3
UMPS 0 0 0 0 3 3
UROC1 0 0 0 0 3 3
VDR 0 0 0 0 3 3
VPS37A 0 0 0 0 3 3
VSX2 0 0 0 0 3 3
WARS1 0 0 0 0 3 3
WNT10A 0 1 2 1 0 3
ZMYND11 0 0 0 0 3 3
ABCA1, NIPSNAP3B 0 0 0 0 2 2
ABCA4, LOC126805793 0 0 0 0 2 2
ABCC8 0 0 1 0 1 2
ABCD3 0 0 0 0 2 2
ABHD12, LOC130065585 0 0 0 0 2 2
ACOX2 0 0 0 0 2 2
ADAM9 0 0 0 0 2 2
ADAR, LOC129931512 0 0 1 0 1 2
AFG2A 0 0 1 0 1 2
AGT 0 0 0 0 2 2
AHCY 0 0 0 0 2 2
ALG14, LOC129930989 0 0 1 1 0 2
ALG9 0 0 0 0 2 2
ANKH, OTULIN 0 0 0 0 2 2
ANKRD11, TRAPPC2L 0 0 0 0 2 2
ANO3, MUC15 0 0 0 0 2 2
ANOS1 0 0 0 0 2 2
ANXA11, LOC126860977 0 0 0 0 2 2
AP1B1 0 0 0 0 2 2
AP3B1 0 0 0 0 2 2
AP4B1, DCLRE1B, LOC129931235 0 0 1 0 1 2
AP4M1, TAF6 0 0 0 0 2 2
APC2 0 0 0 0 2 2
ARID1A, LOC129929837 0 0 0 0 2 2
ARID1B, LOC115308161, LOC129997524 0 0 1 1 0 2
ARID1B, LOC129997525 0 0 0 2 0 2
ARL3 0 0 0 0 2 2
ASIC4, GMPPA 0 0 0 0 2 2
ASPM, LOC129932155 0 0 1 1 0 2
ATR, LOC129937703 0 0 1 1 0 2
AVIL, TSFM 0 0 0 0 2 2
AVPR2 0 0 0 0 2 2
B3GALNT2 0 0 0 0 2 2
B4GALT1 0 0 0 0 2 2
B9D1 0 0 0 0 2 2
BAAT 0 0 0 0 2 2
BACH2 0 0 0 0 2 2
BFSP2 0 0 0 0 2 2
BIVM-ERCC5, ERCC5 0 0 0 0 2 2
BLOC1S1-RDH5, RDH5 0 0 0 0 2 2
BMP1 0 0 0 0 2 2
BMP2 0 0 0 0 2 2
BMPR1A 0 0 0 0 2 2
BRCA1 2 0 0 0 0 2
C12orf57 0 0 0 0 2 2
C17orf107, CHRNE 0 0 0 0 2 2
C1orf105, PIGC 0 0 0 0 2 2
C2CD3 0 0 0 0 2 2
C8B 0 0 0 0 2 2
CA2 0 0 0 0 2 2
CALCRL 0 0 0 0 2 2
CALM1 0 0 0 0 2 2
CALM2 0 0 0 0 2 2
CALM3 0 0 0 0 2 2
CAPN3, LOC126862115 0 0 1 0 1 2
CARD14, LOC126862662, SGSH 0 0 0 0 2 2
CARD9 0 0 0 0 2 2
CARMIL2 0 0 0 0 2 2
CASD1, SGCE 0 0 0 0 2 2
CASP10 0 0 0 0 2 2
CATSPER1 0 0 0 0 2 2
CBL 0 0 0 0 2 2
CC2D1A 0 0 0 0 2 2
CCDC47 0 0 0 0 2 2
CCND2 0 0 0 0 2 2
CD19 0 0 0 0 2 2
CDCA7 0 0 0 0 2 2
CDH15 0 0 0 0 2 2
CDK10 0 0 0 0 2 2
CEP120 0 0 0 0 2 2
CEP55 0 0 0 0 2 2
CEP85L 0 0 0 0 2 2
CFAP300 0 0 0 0 2 2
CFAP96, UFSP2 0 0 0 0 2 2
CFB 0 0 0 0 2 2
CHRNA2 0 0 0 0 2 2
CHRNB1 0 0 0 0 2 2
CHSY1 0 0 0 0 2 2
CLDN14 0 0 0 0 2 2
CLN8 0 0 0 0 2 2
CLRN1 0 0 2 0 0 2
CLTC 0 0 0 0 2 2
CNNM2 0 0 0 0 2 2
CNTNAP1 0 0 0 0 2 2
COA6 0 0 0 0 2 2
COASY 0 0 0 0 2 2
COCH 0 0 0 0 2 2
COL8A2 0 0 0 0 2 2
COQ2 0 0 0 0 2 2
COQ7 0 0 0 0 2 2
COQ8B 0 0 0 0 2 2
CPAP 0 0 0 0 2 2
CPAP, RNF17 0 0 0 0 2 2
CPT1A, LOC126861244 0 0 1 0 1 2
CRAT 0 0 0 0 2 2
CREB3L1 0 0 0 0 2 2
CRTAP 0 0 0 0 2 2
CRYBA4 0 0 0 0 2 2
CRYBB3 0 0 0 0 2 2
CRYGB, LOC100507443 0 0 0 0 2 2
CRYM 0 0 0 0 2 2
CSF3R 0 0 0 0 2 2
CSGALNACT1 0 0 0 0 2 2
CTDP1 0 0 0 0 2 2
CTNNA2 0 0 0 0 2 2
CTSB 0 0 0 0 2 2
CTSD 0 0 0 0 2 2
CTU2, PIEZO1 0 0 0 0 2 2
CUBN, LOC126860871 0 0 0 0 2 2
CUL7 0 0 0 0 2 2
CUX1, LOC126860126 0 0 0 0 2 2
CUX2 0 0 0 0 2 2
CYBB 0 0 0 0 2 2
CYP11B1 0 0 0 0 2 2
CYP11B1, LOC106799833 0 0 0 0 2 2
CYP19A1, MIR4713HG, PIRC66 0 0 0 0 2 2
CYP24A1 0 0 0 0 2 2
DACT1 0 0 0 0 2 2
DARS1 0 0 0 0 2 2
DDB2 0 0 0 0 2 2
DDX59 0 0 0 0 2 2
DGKE 0 0 0 0 2 2
DHCR24 0 0 0 0 2 2
DIAPH3 0 0 0 0 2 2
DNAAF11 0 0 0 0 2 2
DNAAF3 0 0 0 0 2 2
DNAAF4, DNAAF4-CCPG1 0 0 0 0 2 2
DNAH11, LOC126859961 0 0 0 0 2 2
DNAH9, LOC101928350 0 0 0 0 2 2
DNAJB2 0 0 0 0 2 2
DNMT3B, LOC126863014 0 0 0 0 2 2
DOK7 0 0 0 0 2 2
DPM2 0 0 0 0 2 2
DRAM2 0 0 0 0 2 2
DRC4 0 0 0 0 2 2
DSE 0 0 0 0 2 2
DSG1 0 0 0 0 2 2
DSTYK 0 0 0 0 2 2
EDN1 0 0 0 0 2 2
EDNRA 0 0 0 0 2 2
EED 0 0 0 0 2 2
EEF1A2 0 0 0 0 2 2
EEF2 0 0 0 0 2 2
EFCAB10, RINT1 0 0 0 0 2 2
EIF3F 0 0 0 0 2 2
EML1 0 0 0 0 2 2
ENO3 0 0 0 0 2 2
ENPP1 0 0 0 0 2 2
ERCC6L2 0 0 0 0 2 2
ETHE1, LOC130064595 0 0 0 0 2 2
EVC2 0 0 0 0 2 2
EXT1 0 0 0 0 2 2
EYA4 1 0 0 0 1 2
FA2H 0 0 0 0 2 2
FAH, LOC112272621 0 0 0 0 2 2
FAM20A, PRKAR1A 0 0 0 0 2 2
FAN1, MTMR10 0 0 0 0 2 2
FBLN1 0 0 0 0 2 2
FGF12 0 0 0 0 2 2
FH 0 0 0 1 1 2
FLCN 0 0 0 0 2 2
FLVCR1 0 0 0 0 2 2
FMO3 0 0 0 0 2 2
FRAS1, LOC126807089 0 0 0 0 2 2
FRMPD4 0 0 0 0 2 2
FRRS1L 0 0 0 0 2 2
FSHR 0 0 0 0 2 2
FTCD 0 0 0 0 2 2
FUT8 0 0 0 0 2 2
GABRA1 0 0 0 0 2 2
GABRB1 0 0 0 0 2 2
GABRD 0 0 0 0 2 2
GAL 0 0 0 0 2 2
GALE 0 0 1 0 1 2
GALNS, LOC130059762, TRAPPC2L 1 0 0 0 1 2
GAREM2, HADHA 0 0 0 0 2 2
GATM 0 0 0 0 2 2
GCDH, LOC126862860, SYCE2 0 0 0 0 2 2
GHR 0 0 0 0 2 2
GHSR 0 0 0 0 2 2
GLB1, LOC129936434, TMPPE 0 0 0 0 2 2
GLE1, LOC101929270 0 0 0 0 2 2
GLI3 0 0 0 0 2 2
GLRB 0 0 0 0 2 2
GNAL 0 0 0 0 2 2
GNAO1 0 0 0 0 2 2
GNPAT 0 0 0 0 2 2
GOSR2, LRRC37A2 0 0 0 0 2 2
GREB1L 0 0 0 0 2 2
GRHL3 0 0 0 0 2 2
GRID2 0 0 0 0 2 2
GRIN2D 0 0 0 0 2 2
GUCA1B 0 0 0 0 2 2
GUCY2D 0 0 0 0 2 2
HDAC6 0 0 0 0 2 2
HELLS 0 0 0 0 2 2
HEPACAM 0 0 0 0 2 2
HGD 0 0 0 0 2 2
HGF 0 0 0 0 2 2
HIBCH 0 0 0 0 2 2
HIVEP2 0 0 0 0 2 2
HPGD 0 0 0 0 2 2
HPS5 0 0 0 0 2 2
HS2ST1 0 0 0 0 2 2
HSALR1, LOC130059751, PIEZO1 0 0 0 0 2 2
HSD11B2 0 0 0 0 2 2
HSD3B7 0 0 0 0 2 2
HSPA9 0 0 0 0 2 2
HSPB3 0 0 0 0 2 2
HSPG2, LOC126805655 0 0 0 0 2 2
IBA57 0 0 0 0 2 2
IFIH1 0 0 0 0 2 2
IFNGR2 0 0 0 0 2 2
IFT140, LOC126862260 0 0 0 0 2 2
IKZF1 0 0 0 0 2 2
IL2RA 0 0 0 0 2 2
ILDR1 0 0 0 0 2 2
IMPG1 0 0 0 0 2 2
INPP5K 0 0 0 0 2 2
INPPL1 0 0 0 0 2 2
INSL3 0 0 0 0 2 2
INTU 0 0 0 0 2 2
INVS 0 0 0 0 2 2
IQCB1 0 0 0 0 2 2
IRS4 0 0 0 0 2 2
ITGA7, LOC126861535 0 0 0 0 2 2
ITPR1, LOC126806590 0 0 0 0 2 2
JPH2 0 0 0 0 2 2
KATNB1 0 0 0 0 2 2
KCNH1 0 0 0 0 2 2
KCNJ6 0 0 0 0 2 2
KCNN3 0 0 0 0 2 2
KCNV2 0 0 0 0 2 2
KCTD7 0 0 0 0 2 2
KDM6B 0 0 0 0 2 2
KIAA0825 0 0 0 0 2 2
KIF1C, LOC126862473 0 0 0 0 2 2
KIF22 0 0 0 0 2 2
KIF2A 0 0 0 0 2 2
KIF7, LOC126862216 0 0 0 0 2 2
KISS1 0 0 0 0 2 2
KISS1R 0 0 0 0 2 2
KLHL40 0 0 0 0 2 2
KRT16 0 0 0 0 2 2
L2HGDH 0 0 0 0 2 2
LAMC2, LOC126805948 0 0 0 0 2 2
LAT 0 0 0 0 2 2
LIAS 0 0 0 0 2 2
LIPN 0 0 0 0 2 2
LIPT1, MITD1 0 0 0 0 2 2
LMBRD1 0 0 0 0 2 2
LMX1A 0 0 0 0 2 2
LOC102723692, XYLT1 0 0 0 0 2 2
LOC102724058, SCN1A 2 0 0 0 0 2
LOC105371520, TMEM107 0 0 0 0 2 2
LOC107372315, OSGEP 0 0 0 0 2 2
LOC107648851, TAP2 0 0 0 0 2 2
LOC126805711, MACF1 0 0 1 0 1 2
LOC126806433, TTN 0 0 0 0 2 2
LOC126806798, ZNF148 0 0 0 0 2 2
LOC126859690, PKHD1 0 0 1 1 0 2
LOC126860782, SETX 0 0 0 1 1 2
LOC126861365, TBCEL-TECTA, TECTA 0 0 0 0 2 2
LOC129930352, P3H1 1 0 1 0 0 2
LOC129936056, SUMF1 1 0 1 0 0 2
LOC129996727, SLC17A5 1 0 0 1 0 2
LOC130006596, MED17 0 0 0 0 2 2
LOC130056971, SPG11 0 0 2 0 0 2
LOC130064118, UQCRFS1 0 0 0 0 2 2
LOC130064709, OPA3 0 0 0 0 2 2
LOC130067355, RAC2 0 0 0 0 2 2
LRBA 0 0 0 0 2 2
LRIG2 0 0 0 0 2 2
LRIT3 0 0 0 0 2 2
LRRC8A 0 0 0 0 2 2
LURAP1L, TYRP1 0 0 0 0 2 2
MAG 0 0 0 0 2 2
MAN1B1 0 0 0 0 2 2
MAP2K1 0 0 0 0 2 2
MC2R 1 1 0 0 0 2
MCEE 0 0 0 0 2 2
MCM2 0 0 0 0 2 2
MED13 0 0 0 0 2 2
MEGF10 0 0 0 0 2 2
MESP2 0 0 1 1 0 2
MIF4GD-DT, SLC25A19 0 0 0 0 2 2
MIPEP 0 0 0 0 2 2
MIR4673, NOTCH1 0 0 0 1 1 2
MLPH 0 0 0 0 2 2
MMAB, MVK 0 0 2 0 0 2
MMADHC 0 0 0 0 2 2
MTMR2 0 0 0 0 2 2
MTPAP 0 0 0 0 2 2
MUSK 0 0 0 0 2 2
MYH7 0 0 0 0 2 2
MYL3 0 0 0 0 2 2
MYORG 0 0 0 0 2 2
NANS, TRIM14 0 0 0 0 2 2
NARS2 0 0 0 0 2 2
NCAPH 0 0 0 0 2 2
NCAPH2, SCO2, TYMP 0 0 0 0 2 2
NCF2 0 0 0 0 2 2
NCF4 0 0 0 0 2 2
NDUFA9 0 0 0 0 2 2
NDUFAF1 0 0 0 0 2 2
NDUFAF2 0 0 0 0 2 2
NDUFS7 0 0 0 0 2 2
NDUFS8 0 0 0 0 2 2
NDUFV2 0 0 0 0 2 2
NIPAL4 0 0 0 0 2 2
NLRC4 0 0 0 0 2 2
NODAL 0 0 0 0 2 2
NOVA2 0 0 0 0 2 2
NR0B1 0 0 0 0 2 2
NSDHL 0 0 0 0 2 2
NT5E 0 0 0 0 2 2
NTRK2 0 0 0 0 2 2
NUBPL 0 0 0 0 2 2
NUP160 0 0 0 0 2 2
OFD1 0 0 0 0 2 2
OPA3 0 0 0 0 2 2
OPN1LW 0 0 0 0 2 2
OTUD6B 0 0 0 0 2 2
OVOL2 0 0 0 0 2 2
OXCT1 0 0 0 0 2 2
PAK1 0 0 0 0 2 2
PANK4 0 0 0 0 2 2
PAX4 0 0 0 0 2 2
PAX8 0 0 0 0 2 2
PCDH12 0 0 0 0 2 2
PDE10A 0 0 0 0 2 2
PDE6A 0 0 0 0 2 2
PDE6C 0 0 0 0 2 2
PEX3 0 0 0 0 2 2
PEX5 0 0 0 0 2 2
PGAP3 0 0 0 0 2 2
PHF21A 0 0 0 0 2 2
PI4KA, SNAP29 0 0 0 0 2 2
PIBF1 0 0 0 0 2 2
PIK3CD 0 0 0 0 2 2
PJVK 0 0 0 0 2 2
PLD1 0 0 0 0 2 2
PLK4 0 0 0 0 2 2
PLOD1 0 0 0 0 2 2
PLP1, RAB9B 0 0 0 0 2 2
PLS1 0 0 0 0 2 2
PMPCA 0 0 0 0 2 2
PNPLA8 0 0 0 0 2 2
PNPO 0 0 0 0 2 2
POC1B, POC1B-DUSP6 0 0 0 0 2 2
POF1B 0 0 0 0 2 2
POGLUT1 0 0 0 0 2 2
POLR1D 0 0 0 0 2 2
POMGNT2 0 0 0 0 2 2
PRDM12 0 0 0 0 2 2
PREPL 0 0 0 0 2 2
PREPL, SLC3A1 0 0 0 0 2 2
PRKCSH 0 0 0 0 2 2
PROKR2 0 0 0 0 2 2
PRSS12 0 0 0 0 2 2
PRSS56 0 0 0 0 2 2
PSPH 0 0 0 2 0 2
PSTPIP1 0 0 0 0 2 2
PTCH1 0 0 0 0 2 2
PTF1A 0 0 0 0 2 2
PTH 0 0 0 0 2 2
PTH1R 0 0 0 0 2 2
PYCR1 0 0 0 0 2 2
PYCR2 0 0 0 0 2 2
QARS1 0 0 0 0 2 2
RAB3GAP1 0 0 0 0 2 2
RAC1 0 0 0 0 2 2
RAC2 0 0 0 0 2 2
RAG1 0 0 0 0 2 2
RBP3 0 0 0 0 2 2
RDX 0 0 0 0 2 2
REN 0 0 0 0 2 2
RFT1 0 0 0 0 2 2
RGR 0 0 0 0 2 2
RIPPLY2, RIPPLY2-CYB5R4 0 0 0 0 2 2
RMP64 0 0 0 0 2 2
RNASEH1 0 0 0 0 2 2
RNPC3 0 0 0 0 2 2
RSPO2 0 0 0 0 2 2
RTN4IP1 0 0 0 0 2 2
RUNX1 0 0 0 0 2 2
RUSC2 0 0 0 0 2 2
SARS1 0 0 0 0 2 2
SASH1 0 0 0 0 2 2
SATB2 0 0 0 0 2 2
SBF2 0 0 0 0 2 2
SCNN1A 0 0 0 0 2 2
SCNN1B 0 0 0 0 2 2
SCO2 0 0 0 1 1 2
SDHB 0 0 0 0 2 2
SERPING1 0 0 0 0 2 2
SET 0 0 0 0 2 2
SHANK3 0 0 0 0 2 2
SIN3A 0 0 0 0 2 2
SIPA1L3 0 0 0 0 2 2
SKI 0 0 0 0 2 2
SLA, TG 0 0 0 0 2 2
SLC10A2 0 0 0 0 2 2
SLC12A1 0 0 0 0 2 2
SLC13A3 0 0 0 0 2 2
SLC16A1 0 0 0 0 2 2
SLC16A2 0 0 0 0 2 2
SLC17A8 0 0 0 0 2 2
SLC25A12 0 0 0 0 2 2
SLC25A19 0 0 0 0 2 2
SLC25A24 0 0 0 0 2 2
SLC26A5 0 0 0 0 2 2
SLC2A1, SLC2A1-DT 1 0 0 0 1 2
SLC34A1 0 0 0 0 2 2
SLC35A3 0 0 0 0 2 2
SLC35C1 0 0 0 0 2 2
SLC35D1 0 0 0 0 2 2
SLC39A13 0 0 0 0 2 2
SLC39A5 0 0 0 0 2 2
SLC39A8 1 0 0 0 1 2
SLC3A1 0 0 0 0 2 2
SLC45A2 0 0 0 0 2 2
SLC7A14 0 0 0 0 2 2
SLCO2A1 0 0 0 0 2 2
SMC3 0 0 0 0 2 2
SMS 0 0 0 0 2 2
SNRNP200 0 0 0 0 2 2
SOX5 0 0 0 0 2 2
SOX9 0 0 0 0 2 2
SP110 0 0 0 0 2 2
SP7 0 0 0 0 2 2
SPATA7 0 0 0 0 2 2
SPEG 0 0 0 0 2 2
SPRTN 0 0 0 0 2 2
SRP72 0 0 0 0 2 2
STAG2 0 0 0 1 1 2
STAT3 0 0 0 0 2 2
STEEP1 0 0 0 0 2 2
STING1 0 0 0 0 2 2
STK4 0 0 0 0 2 2
SUCLA2 0 0 0 0 2 2
SULT2B1 0 0 0 0 2 2
SYNE4 0 0 0 0 2 2
SYNGAP1 0 0 0 0 2 2
SYT1 0 0 0 0 2 2
TAP1 0 0 0 0 2 2
TBC1D23 0 0 0 0 2 2
TBK1 0 0 0 0 2 2
TBX19 0 0 0 0 2 2
TCF3 0 0 0 0 2 2
TCTN3 0 0 0 0 2 2
TDRD7 0 0 0 0 2 2
TERT 0 0 0 0 2 2
TFAP2B 0 0 0 0 2 2
TFG 0 0 0 0 2 2
TFR2 0 0 1 0 1 2
TGFB1 0 0 0 0 2 2
THG1L 0 0 0 0 2 2
THOC6 0 0 0 0 2 2
TMC1 1 0 0 0 1 2
TMEM132E 0 0 0 0 2 2
TMEM165 0 0 0 0 2 2
TMEM67 0 0 0 0 2 2
TMEM70 0 0 0 0 2 2
TMEM94 0 0 0 0 2 2
TNFRSF11B 0 0 0 0 2 2
TNFRSF4 0 0 0 0 2 2
TNNI2 0 0 0 0 2 2
TPM1 0 0 0 0 2 2
TRAIP 0 0 0 0 2 2
TRAPPC6B 0 0 0 0 2 2
TRIM36 0 0 0 0 2 2
TRIM44 0 0 0 0 2 2
TRIP13 0 0 0 0 2 2
TRMU 0 0 0 0 2 2
TRPA1 0 0 0 0 2 2
TRPC6 0 0 0 0 2 2
TRRAP 0 0 0 0 2 2
TTC19 0 0 0 0 2 2
TTLL5 0 0 0 0 2 2
TTPA 0 0 0 0 2 2
TUBA1A 0 0 0 0 2 2
TUBGCP4 0 0 0 0 2 2
TYMP 0 0 0 0 2 2
UMOD 0 0 0 0 2 2
UROS 0 0 0 0 2 2
VAPB 0 0 0 0 2 2
VPS13D 0 0 0 1 1 2
VPS33A 0 0 0 0 2 2
VPS33B 0 0 0 0 2 2
WDPCP 0 0 0 0 2 2
WDR45B 0 0 0 0 2 2
WDR73 0 0 0 0 2 2
XIAP 0 0 0 0 2 2
ZBTB42 0 0 0 0 2 2
ZCCHC8 0 0 0 0 2 2
ZFHX4 0 0 0 0 2 2
ZNF142 0 0 0 0 2 2
AARS1 0 0 0 0 1 1
ABCB7 0 0 0 0 1 1
ABCB7, LOC130068449 0 0 0 0 1 1
ABCC2, LOC108281165 0 0 0 0 1 1
ABCG5, ABCG8 0 0 0 0 1 1
ACACA 0 0 0 0 1 1
ACBD6, LHX4 0 0 0 0 1 1
ACD, CARMIL2 0 0 0 0 1 1
ACSL4 0 0 0 0 1 1
ACTA1 0 0 0 0 1 1
ACTL6B 0 0 0 0 1 1
ACTN4, LOC130064361 0 0 0 0 1 1
ACYP1, NPC2 0 0 0 0 1 1
ADA, PKIG 0 1 0 0 0 1
ADAMTS17, LOC130058037 0 0 0 0 1 1
ADARB1 0 0 0 0 1 1
ADAT3, SCAMP4 0 0 0 0 1 1
ADK 0 0 0 0 1 1
ADSL 1 0 0 0 0 1
AFG3L2, TUBB6 0 0 0 0 1 1
AGTR1 0 0 0 0 1 1
AIFM1, RAB33A 0 0 0 0 1 1
AKAP9, CYP51A1 0 0 0 0 1 1
AKAP9, LOC121175350 0 0 0 0 1 1
AKAP9, LOC129998789 0 0 0 0 1 1
ALAS2 0 0 0 0 1 1
ALDH4A1, LOC120893116 0 0 0 0 1 1
ALDH6A1, BBOF1 0 0 0 0 1 1
ALDOA, LOC112694756 0 0 0 0 1 1
ALG1, LOC130058384 0 0 0 0 1 1
ALG8, LOC130006492 0 0 0 0 1 1
ALOXE3, LOC126862485 0 0 0 0 1 1
ALX3 0 0 0 0 1 1
AMPD2, LOC129931109 0 0 0 1 0 1
ANK1, LOC126860368 0 0 0 0 1 1
ANK1, LOC126860369 0 0 0 0 1 1
ANK1, LOC130000286 0 0 0 0 1 1
ANKH, LOC129993725 0 0 0 0 1 1
ANKS6, LOC124310614 0 0 0 0 1 1
AP1S1, LOC126860125 0 0 0 0 1 1
AP2S1 0 0 0 0 1 1
AP4B1, LOC129931235 0 0 1 0 0 1
APOB, LOC106560211 0 0 0 0 1 1
AR 0 0 0 0 1 1
ARG1, MED23 0 0 0 0 1 1
ARHGEF2, LOC122128443 0 0 0 0 1 1
ARID1A, LOC126805670 0 0 0 0 1 1
ARID1B, LOC115308161 0 0 0 0 1 1
ARID1B, LOC115308161, LOC129997523 0 0 0 0 1 1
ARL14EP-DT, FSHB 0 0 0 0 1 1
ARMC9 0 0 0 0 1 1
ARMC9, LOC122861306 0 0 0 0 1 1
ARV1 0 0 0 0 1 1
ASH1L, MIR555 0 0 1 0 0 1
ASL, LOC129998526 0 0 0 0 1 1
ASPH, LOC130000491 0 0 0 0 1 1
ATCAY 0 0 0 0 1 1
ATIC, FN1 0 0 0 0 1 1
ATL1, MAP4K5 0 0 0 0 1 1
ATL3 0 0 0 0 1 1
ATP1A3, LOC130064543 0 0 0 0 1 1
ATP2A2, LOC126861638 0 0 0 0 1 1
ATP6AP1 0 0 0 0 1 1
ATP6AP2 0 0 0 0 1 1
ATP6V1B2 0 0 0 0 1 1
ATP7B, TMEM272 0 0 0 0 1 1
AUH 0 0 0 0 1 1
AVIL 0 0 0 0 1 1
B3GAT3 0 0 0 0 1 1
B9D1, LOC130060455 0 0 0 0 1 1
BBS5, LOC129935068 0 0 0 0 1 1
BBS7 0 0 0 0 1 1
BCOR, LOC126863239 0 0 0 0 1 1
BFSP2, LOC129937591 0 0 0 0 1 1
BHLHA9 0 0 0 0 1 1
BICD2 0 0 0 0 1 1
BLOC1S3 0 0 0 0 1 1
BMP1, LOC113788269 0 0 0 0 1 1
BMP15 0 0 0 0 1 1
BMP4, LOC109433677 0 0 0 0 1 1
BOLA2, CORO1A 0 0 0 0 1 1
BPTF 0 0 0 0 1 1
BRPF1 0 0 0 0 1 1
C10orf55, LOC126860960, PLAU 0 0 0 0 1 1
C14orf39, SIX6 0 0 0 0 1 1
C19orf12 0 0 0 0 1 1
C1QA 0 0 0 0 1 1
C1QTNF5, MFRP 0 0 0 0 1 1
C8A 0 0 0 0 1 1
CABP2 0 0 0 0 1 1
CACNA1A, LOC108663985 0 0 0 0 1 1
CAD 0 0 0 0 1 1
CAPN3, LOC130056921 0 0 1 0 0 1
CARS2, LOC130010127 0 0 0 0 1 1
CAV1 0 0 0 0 1 1
CCDC122, LACC1 0 0 0 0 1 1
CCDC88C, LOC130056326 0 0 0 0 1 1
CCNK 0 0 0 0 1 1
CD247 0 0 0 0 1 1
CD27 0 0 0 0 1 1
CD27, LOC130007243 0 0 0 0 1 1
CD40 0 0 0 0 1 1
CD40, LOC127893450 0 0 0 0 1 1
CDCA3, GNB3 0 0 0 0 1 1
CDH15, LOC130059794 0 0 0 0 1 1
CDH23, LOC111982869 0 0 0 1 0 1
CDIN1, LOC130056772 0 0 0 0 1 1
CDK8 0 0 0 0 1 1
CDKL5 0 0 0 0 1 1
CDKL5, RS1 1 0 0 0 0 1
CDKN1B 0 0 0 0 1 1
CDKN1C 0 0 0 0 1 1
CDSN, PSORS1C1 0 0 0 0 1 1
CEP104, LOC126805586 0 0 0 0 1 1
CEP104, LOC126805587 0 0 0 0 1 1
CEP128, TSHR 0 0 0 0 1 1
CEP152 0 0 0 0 1 1
CEP290, LOC129390514 0 0 1 0 0 1
CEP290, RLIG1 0 1 0 0 0 1
CEP41 0 0 0 0 1 1
CEP63 0 0 0 0 1 1
CEP63, KY, LOC123038188 0 0 0 0 1 1
CEP85L, LOC129997071 0 0 0 0 1 1
CERKL, ITGA4 0 0 0 0 1 1
CHAT, SLC18A3 0 0 0 0 1 1
CHKB, CHKB-CPT1B 0 0 0 0 1 1
CHM, LOC129391306 0 0 0 0 1 1
CHMP2B 0 0 0 0 1 1
CHN1 0 0 0 0 1 1
CHRNE, LOC130060040 0 0 0 0 1 1
CHRNE, LOC130060041 0 0 0 0 1 1
CHSY1, LOC130058068 0 0 0 0 1 1
CIDEC 0 0 0 0 1 1
CILK1 0 0 0 0 1 1
CKAP2L 0 0 0 0 1 1
CKAP2L, NT5DC4 0 0 0 0 1 1
CLCN6 0 0 0 0 1 1
CLCN7, LOC130058166 0 0 0 0 1 1
CLCNKB 0 0 0 0 1 1
CLDN1, CLDN16 0 0 0 0 1 1
CLPP 0 0 0 0 1 1
CLPP, LOC130063288 0 0 0 0 1 1
CLPX 0 0 0 0 1 1
CNBP 0 0 0 0 1 1
CNTN1 0 0 0 0 1 1
CNTNAP1, LOC125177481 0 0 0 0 1 1
COA8 0 0 0 0 1 1
COG1, LOC126862634 0 0 0 0 1 1
COG1, LOC130061576 0 0 0 0 1 1
COL10A1, NT5DC1 0 0 0 0 1 1
COL7A1 0 0 0 1 0 1
COQ2, LOC112997540 0 0 0 0 1 1
COQ4, LOC130002704 0 0 0 0 1 1
COQ7, LOC130058587 0 0 0 0 1 1
CPLANE1 0 0 0 0 1 1
CPT1C 0 0 0 0 1 1
CR2, LOC129932399 0 0 0 0 1 1
CRELD1, IL17RC, LOC129936144 0 0 0 0 1 1
CRTAP, LOC129936439 0 0 0 0 1 1
CRX 1 0 0 0 0 1
CRYAA 0 0 0 0 1 1
CRYAB 0 0 0 0 1 1
CSF1R, LOC111188154 0 0 0 0 1 1
CSNK2A1 0 0 0 0 1 1
CTNND1, TMX2-CTNND1 0 0 0 0 1 1
CUBN, LOC129390143 0 0 0 0 1 1
CWC27, LOC123493324 0 0 0 0 1 1
CYGB, PRCD 0 0 0 0 1 1
CYLD 0 0 0 0 1 1
CYP17A1, LOC110408762 0 0 0 0 1 1
CYP27A1 0 1 0 0 0 1
CYP2U1 0 0 0 0 1 1
CYP4V2, LOC129993526 0 0 0 0 1 1
CYP7B1 0 0 0 0 1 1
D2HGDH, LOC129936032 0 0 0 0 1 1
D2HGDH, LOC129936033 0 0 0 0 1 1
DCLRE1C, SUV39H2 0 0 0 0 1 1
DCPS 0 0 0 0 1 1
DCPS, TIRAP 0 0 0 0 1 1
DDHD2 0 0 0 0 1 1
DDRGK1 0 0 0 0 1 1
DDX6 0 0 0 0 1 1
DGUOK 0 0 0 0 1 1
DHDDS 0 0 0 0 1 1
DIAPH1 0 0 0 0 1 1
DIS3L2 0 0 0 0 1 1
DLG4, LOC126862479 0 0 0 0 1 1
DLL3, LOC130064417 0 0 0 0 1 1
DLL3, LOC130064417, PLEKHG2 0 0 0 0 1 1
DMAC2L, L2HGDH 0 0 0 0 1 1
DNA2 0 0 0 0 1 1
DNAAF1, TAF1C 0 0 0 0 1 1
DNAH9, LOC126862505 0 0 0 0 1 1
DNAJB13 0 0 0 0 1 1
DNAJB2, LOC129935648 0 0 0 0 1 1
DNAJB6 0 0 0 0 1 1
DNM1 0 0 0 0 1 1
DNM2 0 0 0 0 1 1
DOCK3 0 0 0 0 1 1
DOCK7, LOC129930655 0 0 1 0 0 1
DOCK8, LOC126860552 0 0 0 0 1 1
DOK7, LOC126806951 0 0 0 0 1 1
DPAGT1 0 0 0 0 1 1
DPYD, LOC129930998 0 1 0 0 0 1
DSG1, LOC126862720 0 0 0 0 1 1
DUSP6, POC1B-DUSP6 0 0 0 0 1 1
DYNC1H1, LOC126862060 0 0 0 0 1 1
DYNC2I2, LOC126860772 0 0 0 0 1 1
DYNC2LI1 0 0 0 0 1 1
DYNLT2B, TM4SF19-DYNLT2B 0 0 0 0 1 1
DYSF, LOC122787137 0 0 1 0 0 1
EARS2, GGA2 0 0 0 0 1 1
EBP 0 0 0 0 1 1
ECHS1, LOC130005023 0 0 0 0 1 1
EDNRB 0 0 0 0 1 1
EEF2, LOC130063169 0 0 0 0 1 1
EFNB1 0 0 0 0 1 1
EGR2 0 0 0 0 1 1
EIF2AK4, LOC130056813 0 0 0 0 1 1
EIF2B3 1 0 0 0 0 1
EIF2B4 0 0 0 0 1 1
EIF2B4, GTF3C2 0 0 0 0 1 1
EIF2S3 0 0 0 0 1 1
ELMO2 0 0 0 0 1 1
ELOVL4 0 0 0 0 1 1
ELP4 0 0 0 0 1 1
EME2, MRPS34 0 0 0 0 1 1
EMG1 0 0 0 0 1 1
EMP2 0 0 0 0 1 1
ENTPD1 0 0 0 0 1 1
EP300, LOC126863158 0 0 0 0 1 1
EPB41 0 0 0 0 1 1
EPCAM 0 0 0 0 1 1
EPHB4, SLC12A9 0 0 0 0 1 1
EPM2A, EPM2A-DT, LOC129997381 0 0 0 0 1 1
ERAL1, LOC126862526 0 0 0 0 1 1
ERCC6, LOC126860933 0 0 0 0 1 1
ERCC6, PGBD3 0 0 0 0 1 1
ERCC8 0 0 0 0 1 1
ERLIN1 0 0 0 0 1 1
ERMARD 0 0 0 0 1 1
ESRRB 0 0 0 0 1 1
ETFB 0 0 0 0 1 1
EVI2A, NF1 1 0 0 0 0 1
EVI2B, NF1 0 0 0 0 1 1
EXOSC3 0 0 0 0 1 1
EXOSC8 0 0 0 0 1 1
EXT2 0 0 0 0 1 1
EYA4, TARID 0 0 0 0 1 1
F2 0 0 0 0 1 1
FA2H, LOC130059394 1 0 0 0 0 1
FAH, LOC130057734 0 0 0 0 1 1
FAM161A, LOC129933843 0 0 0 0 1 1
FAN1 0 0 0 0 1 1
FANCB 0 0 0 0 1 1
FANCF 0 0 0 0 1 1
FANCL 0 0 0 0 1 1
FARS2 0 0 0 0 1 1
FARS2, LOC129995672, LYRM4 0 0 0 0 1 1
FAS 0 0 0 0 1 1
FASLG 0 0 0 0 1 1
FASTKD2 0 0 0 0 1 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 1
FBLN5 0 0 0 0 1 1
FBXL3 0 0 0 0 1 1
FBXO11 0 0 0 0 1 1
FCSK 0 0 0 0 1 1
FDX2, FDX2-ZGLP1 0 0 0 0 1 1
FDX2, FDX2-ZGLP1, LOC130063486 0 0 0 0 1 1
FDXR 0 0 0 0 1 1
FECH, LOC130062555 0 0 0 0 1 1
FGD1 0 0 0 0 1 1
FGD1, TSR2 0 0 0 0 1 1
FGF20, LOC129999926 0 0 0 0 1 1
FHL1 0 0 0 0 1 1
FIBP 0 0 0 0 1 1
FLRT3, MACROD2 0 0 0 0 1 1
FLT4, LOC126807632 0 0 0 0 1 1
FLVCR1, LOC129932486 0 0 0 0 1 1
FN1, FN1-DT 0 0 0 0 1 1
FN1, LOC122861289 0 0 0 0 1 1
FOXC1 0 0 0 0 1 1
FOXE3, LINC01389 0 0 0 0 1 1
FOXI1 0 0 0 0 1 1
FOXP1 0 0 0 0 1 1
FOXRED1, LOC130007026 0 0 0 0 1 1
FRMD4A 0 0 0 0 1 1
FTL 0 0 0 0 1 1
FXN, LOC130001862 0 0 0 0 1 1
FZD6 0 0 0 0 1 1
G6PD 1 0 0 0 0 1
GABRB3 0 0 0 0 1 1
GABRG2 0 0 0 0 1 1
GAD1 0 0 0 0 1 1
GALC, LOC130056217 0 0 0 0 1 1
GALC, LOC132090289 0 0 0 0 1 1
GALM 0 0 0 0 1 1
GAN 0 0 0 0 1 1
GAS8 0 0 0 0 1 1
GATA3 0 0 0 0 1 1
GATB 0 0 0 0 1 1
GATB, LOC129993225 0 0 0 0 1 1
GBA2 0 0 0 0 1 1
GBF1, PITX3 0 0 0 0 1 1
GCH1 0 0 0 0 1 1
GCNT2 0 0 0 0 1 1
GCSH, LOC130059495 0 0 0 0 1 1
GDAP1 0 0 0 0 1 1
GDAP1, LOC130000622 0 0 0 0 1 1
GDI1 0 0 0 0 1 1
GEMIN4, LOC130059866 0 0 0 0 1 1
GFER 0 0 0 0 1 1
GFI1 0 0 0 0 1 1
GGT1 0 0 0 0 1 1
GINS1 0 0 0 0 1 1
GIPC3 0 0 0 0 1 1
GJA3 0 0 0 0 1 1
GJB1 0 0 0 0 1 1
GJB3 0 0 0 0 1 1
GLA, HNRNPH2, RPL36A-HNRNPH2 0 1 0 0 0 1
GLDN 0 0 0 0 1 1
GLIS2 0 0 0 0 1 1
GLIS3 0 0 0 0 1 1
GLUL 0 0 0 0 1 1
GLUL, LOC126805944 0 0 0 0 1 1
GMPPB 0 0 0 0 1 1
GNAS 0 0 0 0 1 1
GNAT2, LOC129388577 0 0 1 0 0 1
GNB4 0 0 0 0 1 1
GNG12, WLS 0 0 0 0 1 1
GNPTAB, LOC124646390 0 0 0 0 1 1
GOSR2, LOC126862578, LRRC37A2 0 0 0 0 1 1
GPC6 0 0 0 0 1 1
GPD1 0 0 0 0 1 1
GPR143 0 0 0 0 1 1
GPR88 0 0 0 0 1 1
GREM2 0 0 1 0 0 1
GRM6 0 0 0 0 1 1
GRN 0 0 0 0 1 1
GRXCR1 0 0 0 0 1 1
GRXCR2 0 0 0 0 1 1
GSC 0 0 0 0 1 1
GSDME, LOC129998098 0 0 0 0 1 1
GSR 0 0 0 0 1 1
GSS 0 0 0 0 1 1
GTF2E2 0 0 0 0 1 1
GUCY1A1 0 0 0 0 1 1
GYS1 0 0 0 0 1 1
GYS2, LOC126861480 0 0 0 0 1 1
GZF1 0 0 0 0 1 1
HACE1, LOC113121301 0 0 0 0 1 1
HARS2 0 0 0 0 1 1
HAVCR2 0 0 0 0 1 1
HAX1 0 0 0 0 1 1
HAX1, LOC129931498 0 0 0 0 1 1
HBA2, LOC106804612 0 0 0 0 1 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HDAC8 0 0 0 0 1 1
HJV 0 0 1 0 0 1
HMBS 0 0 0 0 1 1
HMCN1, LOC126805953 0 0 1 0 0 1
HMX1 0 0 0 0 1 1
HNRNPH2, RPL36A-HNRNPH2 0 0 0 0 1 1
HNRNPU 0 0 0 0 1 1
HOXB1 0 0 0 0 1 1
HOXC13 0 0 0 0 1 1
HOXD13 0 0 0 0 1 1
HPD, TIALD 0 0 0 0 1 1
HPDL 0 0 0 1 0 1
HPRT1 0 0 0 0 1 1
HRAS, LRRC56 0 0 0 0 1 1
HS6ST1 0 0 0 0 1 1
HS6ST2 0 0 0 1 0 1
HSD17B4, LOC129994460 1 0 0 0 0 1
HSD3B2 0 0 1 0 0 1
HSD3B2, LOC109029530 1 0 0 0 0 1
HSPD1 0 0 0 0 1 1
HYAL1 0 0 0 0 1 1
HYCC1 0 0 0 0 1 1
IARS1 0 0 0 0 1 1
IDH3B 0 0 0 0 1 1
IFITM5 0 0 0 0 1 1
IFNG 0 0 0 0 1 1
IFNGR1 0 0 0 0 1 1
IFT122, LOC126806810 0 0 0 0 1 1
IFT172, LOC126806173 0 0 0 0 1 1
IFT27 0 0 0 0 1 1
IFT52 0 0 0 0 1 1
IFT57 0 0 0 0 1 1
IGFALS 0 0 0 0 1 1
IGFBP7 0 0 0 0 1 1
IGHMBP2, LOC126861245 0 0 0 0 1 1
IKBKB 0 0 0 0 1 1
IL17RA 0 0 0 0 1 1
IL17RA, LOC130066894 0 0 0 0 1 1
IL17RD, LOC126806689 0 0 0 0 1 1
IL1RAPL1 0 0 0 0 1 1
IL1RN 0 0 0 0 1 1
IL21 0 0 0 0 1 1
IL6ST 0 0 0 0 1 1
INS, INS-IGF2 0 0 0 0 1 1
IQCE, LOC126859928 0 0 0 0 1 1
IRF2BP2 0 0 0 0 1 1
IRF2BP2, LOC129932812 0 0 0 0 1 1
IRF2BPL, LOC107984638 0 0 0 0 1 1
IRF8 0 0 0 0 1 1
IRX5 0 0 0 0 1 1
ISCU, LOC130008688 0 0 0 0 1 1
ITGA3 0 0 0 0 1 1
ITGB4 0 0 0 0 1 1
ITGB6 0 0 0 0 1 1
JAGN1 0 0 0 0 1 1
JMJD8, STUB1 0 0 0 0 1 1
KCNA5 0 0 0 0 1 1
KCNC3 0 0 0 0 1 1
KCNE1 0 0 0 0 1 1
KCNK3 0 0 0 0 1 1
KCNK4, KCNK4-CATSPERZ 0 0 0 0 1 1
KCNMA1 0 0 0 0 1 1
KCNQ3 0 0 0 0 1 1
KCNQ5, KCNQ5-DT 0 0 0 0 1 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 0 0 1 1
KCNT2 0 0 0 0 1 1
KCTD17 0 0 0 0 1 1
KDF1 0 0 0 0 1 1
KDM5C 0 0 0 0 1 1
KDSR 0 0 0 0 1 1
KERA 0 0 0 0 1 1
KIF1A 0 0 0 0 1 1
KIF1C 0 0 0 0 1 1
KIF21A 0 0 0 0 1 1
KIF5A 0 0 0 0 1 1
KIFBP 0 0 0 0 1 1
KLHL10 0 0 0 0 1 1
KMT2C 0 0 0 0 1 1
KMT2D 0 0 0 0 1 1
KMT5B 0 0 0 0 1 1
KPTN 0 0 0 0 1 1
KRT10 0 0 0 0 1 1
KRT12 0 0 0 0 1 1
KRT2 0 0 0 0 1 1
KRT81, KRT86 0 0 1 0 0 1
KYNU 0 0 0 0 1 1
L1CAM 0 0 0 0 1 1
LAGE3 0 0 0 0 1 1
LAMB1 0 0 0 0 1 1
LAMB2 0 0 0 0 1 1
LAMC3, LOC126860777 0 0 0 0 1 1
LAMP2 0 0 0 0 1 1
LBHD1, UQCC3 0 0 0 0 1 1
LCAT 0 0 0 0 1 1
LCT, LOC126806353 0 0 0 0 1 1
LDB3 0 0 0 0 1 1
LDLR, MIR6886 0 0 0 0 1 1
LGI1 0 0 0 0 1 1
LIG4 0 0 0 0 1 1
LIMS2 0 0 0 0 1 1
LITAF 0 0 0 0 1 1
LIX1L, LOC126805851, RBM8A 0 1 0 0 0 1
LOC100507346, PTCH1 0 0 0 0 1 1
LOC101060445, RIGI 0 0 0 0 1 1
LOC101928008, SBF2 0 0 0 0 1 1
LOC105369149, SBF2 0 0 0 0 1 1
LOC105378353, SLC29A3 0 0 0 0 1 1
LOC106113036, NF1 0 0 1 0 0 1
LOC108903148, OPTN 0 0 0 0 1 1
LOC112533671, TSEN54 0 0 0 0 1 1
LOC112533672, UNC13D 0 0 0 0 1 1
LOC114803468, MACF1 0 0 0 0 1 1
LOC121815964, NFKB2 0 0 0 0 1 1
LOC125371439, TSHZ1 0 0 0 0 1 1
LOC126805598, PLEKHG5 0 0 0 1 0 1
LOC126805704, SNIP1 0 0 0 0 1 1
LOC126805872, RPS27 0 0 0 0 1 1
LOC126806253, STAMBP 0 0 0 0 1 1
LOC126806272, SNRNP200 0 0 0 0 1 1
LOC126806426, TTN 0 0 0 0 1 1
LOC126806801, UROC1 0 0 0 0 1 1
LOC126807101, WDFY3 0 0 0 0 1 1
LOC126807238, TRAPPC11 0 0 0 0 1 1
LOC126859592, TBC1D7, TBC1D7-LOC100130357 0 0 0 0 1 1
LOC126859646, VARS2 0 0 0 0 1 1
LOC126859653, SKIC2 0 0 0 0 1 1
LOC126859771, RFX6 0 0 0 0 1 1
LOC126859807, TNFAIP3 0 0 0 0 1 1
LOC126859837, SYNE1 0 0 0 0 1 1
LOC126860260, NCAPG2 0 0 0 0 1 1
LOC126860342, WRN 0 0 0 0 1 1
LOC126860568, RIC1 0 0 0 0 1 1
LOC126860741, TNC 0 0 0 0 1 1
LOC126860783, SETX 0 0 0 0 1 1
LOC126860802, ZMYND11 0 0 0 0 1 1
LOC126860809, WDR37 0 0 0 0 1 1
LOC126861339, SDHD 0 0 0 0 1 1
LOC126861615, PAH 1 0 0 0 0 1
LOC126861752, TNFSF11 0 0 0 0 1 1
LOC126861916, PPP2R3C, PRORP, PRORP-PSMA6 0 0 0 0 1 1
LOC126862097, SLC12A6 0 0 0 1 0 1
LOC126862156, TRIP4 0 0 0 0 1 1
LOC126862183, SCAPER 0 0 0 0 1 1
LOC126862456, VPS53 0 0 0 0 1 1
LOC126862474, NUP88 0 0 0 0 1 1
LOC126862494, MYH8, MYHAS 0 0 0 0 1 1
LOC126862501, MYH2, MYHAS 0 0 0 0 1 1
LOC126862673, TBCD 0 0 0 0 1 1
LOC126862745, MYO5B, SNHG22 0 0 0 0 1 1
LOC126862983, MGME1 0 0 0 0 1 1
LOC126863160, NAGA 0 0 0 0 1 1
LOC126863253, UBA1 0 0 0 1 0 1
LOC126863256, WDR45 0 0 0 0 1 1
LOC129390683, SLC12A6 0 1 0 0 0 1
LOC129391106, RYR1 0 0 0 0 1 1
LOC129929673, RPL11 0 0 0 0 1 1
LOC129930369, SLC2A1 0 0 0 1 0 1
LOC129930379, SZT2 0 0 1 0 0 1
LOC129933565, PKDCC 0 0 0 0 1 1
LOC129933566, PKDCC 0 0 0 0 1 1
LOC129935184, TTN 0 0 0 0 1 1
LOC129935185, TTN 0 0 0 0 1 1
LOC129936554, TRAK1 0 0 0 0 1 1
LOC129936665, SETD2 0 0 1 0 0 1
LOC129936949, PDHB 0 0 1 0 0 1
LOC129992244, SLC2A9 0 0 0 0 1 1
LOC129992304, QDPR 0 0 0 0 1 1
LOC129992613, TMEM165 0 0 0 0 1 1
LOC129992625, SRP72 0 0 0 0 1 1
LOC129993885, NDUFS4 0 0 0 0 1 1
LOC129998796, PEX1 0 0 0 0 1 1
LOC129998796, PEX1, RBM48 0 0 0 0 1 1
LOC130000832, SPAG1 0 0 0 0 1 1
LOC130001012, TAF2 0 0 0 0 1 1
LOC130001411, RECQL4 0 0 0 0 1 1
LOC130001468, VLDLR 0 0 0 0 1 1
LOC130003079, MAN1B1 0 0 0 0 1 1
LOC130003597, MTPAP 0 0 0 0 1 1
LOC130004144, RPS24 0 0 0 0 1 1
LOC130004486, ZFYVE27 0 0 0 0 1 1
LOC130004599, NFKB2 0 0 0 0 1 1
LOC130006599, PANX1 0 0 0 0 1 1
LOC130006765, PTS 0 1 0 0 0 1
LOC130007527, PYROXD1 0 0 0 0 1 1
LOC130009266, POLE 0 0 0 0 1 1
LOC130009747, SUCLA2 0 0 0 0 1 1
LOC130055323, SLC7A7 0 0 0 0 1 1
LOC130055588, SOS2 0 0 0 1 0 1
LOC130055602, NIN 0 0 0 0 1 1
LOC130056936, UBR1 0 0 0 0 1 1
LOC130059555, MLYCD 0 0 0 0 1 1
LOC130059718, ZNF469 0 0 0 0 1 1
LOC130059719, ZNF469 0 0 0 0 1 1
LOC130059823, RPL13 0 0 0 0 1 1
LOC130059824, RPL13 0 0 0 0 1 1
LOC130061479, PSMD12 0 0 0 0 1 1
LOC130062084, SMCHD1 0 0 0 0 1 1
LOC130062196, TUBB6 0 0 0 0 1 1
LOC130063979, PIK3R2 0 0 0 0 1 1
LOC130064281, SDHAF1 0 0 0 0 1 1
LOC130064387, SARS2 0 0 0 0 1 1
LOC130065345, PANK2 0 0 0 0 1 1
LOC130065433, NDUFAF5 0 0 0 0 1 1
LOC130065434, NDUFAF5 0 0 0 0 1 1
LOC130065805, SAMHD1 0 0 0 0 1 1
LOC130066749, RSPH1 0 0 0 0 1 1
LOC130067861, SCO2, TYMP 0 0 0 0 1 1
LOC130068621, NDUFA1, RNF113A 0 0 0 0 1 1
LOC130068867, RPL10 0 0 0 0 1 1
LOC132089454, SLC17A5 0 0 0 0 1 1
LOC132089829, MYPN 0 0 0 0 1 1
LONP1 0 0 0 0 1 1
LPIN2 0 0 1 0 0 1
MAF 0 0 0 0 1 1
MAK 0 0 0 0 1 1
MARK3 0 0 0 0 1 1
MARVELD2 0 0 0 0 1 1
MASP1 0 0 0 0 1 1
MCIDAS 0 0 0 0 1 1
MCM4 0 0 0 0 1 1
MCM5 0 0 0 0 1 1
MCM9 0 0 0 0 1 1
MED12L 0 0 0 0 1 1
MFAP5 0 0 0 0 1 1
MFN2 1 0 0 0 0 1
MFSD8 0 0 1 0 0 1
MGP 0 0 0 0 1 1
MIB1 0 0 0 0 1 1
MICU1 0 0 0 0 1 1
MID2 0 0 0 0 1 1
MIR4742, WDR26 0 0 0 0 1 1
MIR6795, NOTCH3 0 0 0 0 1 1
MIR6811, MLPH 0 0 0 0 1 1
MMACHC, PRDX1 1 0 0 0 0 1
MMP19 0 0 0 0 1 1
MMP20 0 0 0 0 1 1
MPV17 0 0 0 0 1 1
MSTO1 0 0 0 0 1 1
MSX2 0 0 0 0 1 1
MTM1 0 0 0 0 1 1
MUC1 0 0 0 0 1 1
MVD 0 0 0 0 1 1
MVP-DT, PRRT2 0 0 0 0 1 1
MYCL, TRIT1 0 0 0 0 1 1
MYL2 0 0 0 0 1 1
MYLK2 0 0 0 0 1 1
NAA10 0 0 0 1 0 1
NACC1 0 0 0 0 1 1
NAGA 0 0 0 0 1 1
NCAPG2 0 0 0 0 1 1
NDUFA11 0 0 0 0 1 1
NDUFA6 0 0 0 0 1 1
NECTIN1 0 0 0 0 1 1
NEK2 0 0 0 0 1 1
NEK8 0 0 0 0 1 1
NEUROD1 0 0 0 0 1 1
NEUROG3 0 0 0 0 1 1
NFIA 0 0 0 0 1 1
NFKB2 0 0 0 0 1 1
NFKBIA 0 0 0 0 1 1
NFU1 0 0 0 0 1 1
NGLY1 0 0 0 0 1 1
NHLRC1 0 0 0 0 1 1
NHS 0 0 0 0 1 1
NIPA1 0 0 0 0 1 1
NKX3-2 0 0 0 0 1 1
NKX6-2 0 0 0 0 1 1
NOC3L, PLCE1 0 0 0 0 1 1
NOP10 0 0 0 0 1 1
NPHP1 0 0 0 0 1 1
NPHP3-ACAD11, UBA5 0 0 0 0 1 1
NR3C1 0 0 0 0 1 1
NRIP1 0 0 0 0 1 1
NRROS 0 0 0 0 1 1
NT5C3A 0 0 0 0 1 1
NUP133 0 0 0 0 1 1
NUP155 0 0 0 0 1 1
NUP88, RABEP1 0 0 0 0 1 1
NUS1 0 0 0 0 1 1
OPLAH 0 0 0 0 1 1
OPN1SW 0 0 0 0 1 1
OPTN 0 0 0 0 1 1
ORC6 0 0 0 0 1 1
OXR1 0 0 0 0 1 1
PACS1 0 0 0 0 1 1
PAFAH1B1 0 0 0 0 1 1
PAK3 0 0 0 0 1 1
PATL2 0 0 0 0 1 1
PAX3 0 0 0 0 1 1
PAX7 0 0 0 0 1 1
PAX9 0 0 0 0 1 1
PBX1 0 0 0 0 1 1
PC 0 0 0 0 1 1
PCBD1 0 0 0 0 1 1
PCDH19 0 0 0 0 1 1
PCGF2 0 0 0 0 1 1
PDE6G 0 0 0 0 1 1
PDE8B 0 0 0 0 1 1
PDK3 0 0 0 0 1 1
PDP1 0 0 0 0 1 1
PDSS2 0 0 0 0 1 1
PDZD9, UQCRC2 0 0 0 0 1 1
PEX19 0 0 0 0 1 1
PFN1 0 0 0 0 1 1
PGAP1 0 0 0 0 1 1
PGK1 0 0 0 0 1 1
PHEX 0 0 0 0 1 1
PHF6 0 0 0 0 1 1
PHF8 0 0 0 0 1 1
PHKG2 0 0 0 0 1 1
PIGL 0 0 0 0 1 1
PIGU 0 0 0 0 1 1
PITX1 0 0 0 0 1 1
PKD2 0 0 0 0 1 1
PKDCC 0 0 0 0 1 1
PKP2 0 0 0 0 1 1
PMFBP1 0 0 0 0 1 1
PMP2 0 0 0 0 1 1
PMPCB 0 0 0 0 1 1
PNKP 0 0 0 0 1 1
PNLIP 0 0 0 0 1 1
POFUT1 0 0 0 0 1 1
POLR2F, SOX10 0 0 0 0 1 1
POLR3B 0 0 0 0 1 1
POLR3B, RFX4 0 0 0 0 1 1
POMK 0 0 0 0 1 1
POP1 0 0 0 0 1 1
PPIB, SNX22 0 0 0 0 1 1
PPP1CB 0 0 0 0 1 1
PPP1R12A 0 0 0 0 1 1
PPP2CA 0 0 0 0 1 1
PPP2R1A 0 1 0 0 0 1
PQBP1 0 0 0 0 1 1
PRDM5 0 0 0 0 1 1
PRDM8 0 0 0 0 1 1
PRDX1 0 0 0 0 1 1
PRF1 0 0 0 0 1 1
PRICKLE1 0 0 0 0 1 1
PRKAG2 0 0 0 0 1 1
PRKDC 0 0 0 0 1 1
PROS1 0 0 0 0 1 1
PRPS1 0 0 0 0 1 1
PRSS1, TRB 0 0 0 0 1 1
PSEN1 0 0 0 0 1 1
PSENEN 0 0 0 0 1 1
PSMB8 0 0 0 0 1 1
PSMB9 0 0 0 0 1 1
PSMC3IP 0 0 0 0 1 1
PSMD12 0 0 0 0 1 1
PTEN 0 0 0 0 1 1
PTHLH 0 0 0 0 1 1
PTPRC 0 0 0 0 1 1
PTS, TEX12 0 1 0 0 0 1
PUS1 0 0 0 0 1 1
QDPR 0 0 0 0 1 1
RAB18 0 0 0 0 1 1
RAB27A 0 0 0 0 1 1
RAD51C 0 0 0 0 1 1
RASGRP1 0 0 0 0 1 1
RBMX 0 0 0 0 1 1
RBP4 0 0 0 0 1 1
RFXAP 0 0 0 0 1 1
RINT1 0 0 0 0 1 1
RIPK1 0 0 0 0 1 1
RLBP1 0 0 0 0 1 1
RNF125 0 0 0 0 1 1
RNF13 0 0 0 0 1 1
RNF43 0 0 0 0 1 1
ROGDI 0 0 0 0 1 1
RORA 0 0 0 0 1 1
RORC 0 0 0 0 1 1
RPL27 0 0 0 0 1 1
RPS23 0 0 0 0 1 1
RPS26 0 0 0 0 1 1
RPS28 0 0 0 0 1 1
RPS6KA3 0 0 0 0 1 1
RPS7 0 0 0 0 1 1
RRAS2 0 0 0 0 1 1
RSPH4A 0 0 0 0 1 1
RSPRY1 0 0 0 0 1 1
RXYLT1 0 0 0 0 1 1
S1PR2 0 0 0 0 1 1
SAMHD1 0 0 0 0 1 1
SAR1B 0 0 0 0 1 1
SARM1 0 0 0 1 0 1
SBDS 0 0 0 0 1 1
SCARB2 0 0 0 0 1 1
SCN2B 0 0 0 0 1 1
SCN3B 0 0 0 0 1 1
SCP2 0 0 0 0 1 1
SDHAF2 0 0 0 0 1 1
SETBP1 0 0 0 0 1 1
SETD1A 0 0 0 0 1 1
SETD5 0 0 0 0 1 1
SGSH, SLC26A11 1 0 0 0 0 1
SH3GL1 0 0 0 0 1 1
SHH 0 0 0 0 1 1
SHOC2 0 0 0 0 1 1
SIGMAR1 0 0 0 0 1 1
SIL1 0 0 0 0 1 1
SIX1 0 0 0 0 1 1
SIX3 0 0 0 0 1 1
SLC10A7 0 0 0 0 1 1
SLC19A2 0 0 0 0 1 1
SLC19A3 0 0 0 0 1 1
SLC1A1 0 0 0 0 1 1
SLC1A4 0 0 0 0 1 1
SLC24A1 0 0 0 0 1 1
SLC25A20 0 0 0 0 1 1
SLC26A3 0 0 0 0 1 1
SLC2A10 0 0 0 0 1 1
SLC2A2 0 0 0 0 1 1
SLC33A1 0 0 0 0 1 1
SLC34A3 0 0 0 0 1 1
SLC35A1 0 0 0 0 1 1
SLC38A8 0 0 0 0 1 1
SLC52A2 0 0 0 0 1 1
SLC5A1 0 0 0 0 1 1
SLC5A7 0 0 0 0 1 1
SLC7A9 0 0 0 0 1 1
SLC9A6 0 0 0 0 1 1
SLITRK6 0 0 0 0 1 1
SMAD3 0 0 0 0 1 1
SMAD6 0 0 0 0 1 1
SMARCC2 0 0 0 0 1 1
SMARCD1 0 0 0 0 1 1
SMC1A 0 0 0 0 1 1
SMG9 0 0 0 0 1 1
SMOC1 0 0 0 0 1 1
SNAP25 0 0 0 0 1 1
SNCB 0 0 0 0 1 1
SNIP1 0 0 0 0 1 1
SNTA1 0 0 0 0 1 1
SNX10 0 0 0 0 1 1
SOBP 0 0 0 0 1 1
SOX3 0 0 0 0 1 1
SPATA16 0 0 0 0 1 1
SPG21 0 0 0 0 1 1
SRPX2 0 0 0 0 1 1
STAC3 0 0 0 0 1 1
STAG1 0 0 0 0 1 1
STAMBP 0 0 0 0 1 1
STAT1 0 0 0 0 1 1
STRADA 0 0 0 0 1 1
STX16, STX16-NPEPL1 0 0 0 0 1 1
SUOX 0 0 0 0 1 1
SYN1 0 0 0 0 1 1
SYN3, TIMP3 0 0 0 0 1 1
SYT14 0 0 0 0 1 1
TACSTD2 0 0 0 0 1 1
TAF13 0 0 0 0 1 1
TAPT1 0 0 0 0 1 1
TARDBP 0 0 0 0 1 1
TARS2 0 0 0 0 1 1
TAT 0 0 0 0 1 1
TBC1D7, TBC1D7-LOC100130357 0 0 0 0 1 1
TBC1D8B 0 0 0 1 0 1
TBCK 0 0 0 0 1 1
TBL1XR1 0 0 0 0 1 1
TBR1 0 0 0 0 1 1
TBX18 0 0 0 0 1 1
TBX21 0 0 0 0 1 1
TBX3 0 0 0 0 1 1
TBX4 0 0 0 0 1 1
TBX5 0 0 0 0 1 1
TBX6 0 0 0 0 1 1
TBXT 0 0 0 0 1 1
TCAP 0 0 0 0 1 1
TEAD1 0 0 0 0 1 1
TFAP2A 0 0 0 0 1 1
TGFBR1 0 0 0 0 1 1
TGFBR2 0 0 0 0 1 1
TGM5 0 0 0 0 1 1
THPO 0 0 0 0 1 1
TIMM22 0 0 0 0 1 1
TIMMDC1 0 0 0 0 1 1
TLK2 0 0 0 0 1 1
TMC6, TMC8 0 0 0 0 1 1
TMCO1 0 0 0 0 1 1
TMEM237 0 0 0 0 1 1
TMIE 0 0 0 0 1 1
TNFAIP3 0 0 0 0 1 1
TNFRSF11A 0 0 0 0 1 1
TNNI3 0 0 0 0 1 1
TNNT1 0 0 0 0 1 1
TOPORS 0 0 0 0 1 1
TP53RK 0 1 0 0 0 1
TPM3 0 0 0 0 1 1
TPRKB 0 0 0 0 1 1
TRAF3IP1 0 0 0 0 1 1
TRAF3IP2 0 0 0 0 1 1
TRAPPC14 0 0 0 0 1 1
TRIM37 0 0 0 0 1 1
TRIP4 0 0 0 0 1 1
TRIT1 0 0 0 0 1 1
TRMT1 0 0 0 0 1 1
TRPC3 0 0 0 0 1 1
TRPS1 0 0 0 0 1 1
TSHB 0 0 0 0 1 1
TSPAN7 0 0 0 0 1 1
TSR2 0 0 0 1 0 1
TSTD3, USP45 0 0 0 0 1 1
TTBK2 0 0 0 0 1 1
TUBB2A 0 0 0 0 1 1
TUBB4A 0 0 0 0 1 1
TUBG1 0 0 0 0 1 1
TXN2 0 0 0 0 1 1
UBE2T 0 0 0 0 1 1
UBE3B 0 0 0 0 1 1
UCHL1 0 0 0 0 1 1
UFM1 0 0 0 0 1 1
UGP2 0 0 0 0 1 1
UNC45B 0 0 0 0 1 1
UPF3B 0 0 0 0 1 1
UQCRB 0 0 0 0 1 1
USB1 0 0 0 0 1 1
USP9X 0 0 0 0 1 1
VAMP2 0 0 0 0 1 1
VANGL1 0 0 0 0 1 1
VANGL2 0 0 0 0 1 1
VIM 0 0 0 0 1 1
VMA21 0 0 0 0 1 1
VSX1 0 0 0 0 1 1
VWA1 0 0 0 0 1 1
WASHC4 0 0 0 0 1 1
WDFY3 0 0 0 0 1 1
WDR26 0 0 0 0 1 1
WIPF1 0 0 0 0 1 1
WNT10B 0 0 0 0 1 1
WNT7A 0 0 0 0 1 1
XRCC4 0 0 0 0 1 1
YAP1 0 0 0 0 1 1
ZBTB11 0 0 0 0 1 1
ZC3H12C 0 0 1 0 0 1
ZC3H14 0 0 0 0 1 1
ZDHHC9 0 0 0 0 1 1
ZFP57 0 0 0 0 1 1
ZFPM2 0 0 0 0 1 1
ZIC2 1 0 0 0 0 1
ZMIZ1 0 0 0 0 1 1
ZNF141 0 0 0 0 1 1
ZNF341 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 3117
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurofibromatosis, type 1 465 129 954 560 88 2196
Tuberous sclerosis 2 93 28 387 404 729 1641
Usher syndrome type 2A 119 187 470 182 123 1081
Retinitis pigmentosa 39 89 204 469 166 80 1008
Microcephaly, normal intelligence and immunodeficiency 75 8 574 48 12 717
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 0 0 635 635
Early-onset myopathy with fatal cardiomyopathy 0 0 0 0 635 635
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 0 0 635 635
Tibial muscular dystrophy 0 0 0 0 635 635
Li-Fraumeni syndrome 1 86 79 241 210 17 633
Hereditary cancer-predisposing syndrome 86 78 241 210 17 632
Intellectual disability, autosomal dominant 16 0 4 458 61 81 604
Adams-Oliver syndrome 5 0 0 217 178 191 586
Aortic valve disease 1 0 0 217 178 191 586
Tuberous sclerosis 1 58 3 154 155 215 585
Developmental and epileptic encephalopathy, 18 4 11 333 128 48 524
Peutz-Jeghers syndrome 30 13 350 104 8 505
Cystic fibrosis 13 30 300 38 6 387
Wilson disease 156 64 83 51 20 374
Hypokalemic periodic paralysis, type 1 4 14 115 150 86 369
Glycogen storage disease type III 67 39 166 54 42 368
Malignant hyperthermia, susceptibility to, 5 4 14 115 150 72 355
Seckel syndrome 1 0 1 168 142 39 350
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 168 142 35 345
Congenital myopathy 18 0 1 115 150 72 338
Thyrotoxic periodic paralysis, susceptibility to, 1 0 1 115 150 72 338
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 64 172 71 307
Developmental and epileptic encephalopathy, 14 0 0 63 172 71 306
Microcephaly 5, primary, autosomal recessive 47 17 144 40 49 297
Charlevoix-Saguenay spastic ataxia 33 26 114 99 24 296
Glycogen storage disease, type II 1 22 186 42 39 290
Age related macular degeneration 1 0 0 147 46 81 274
Hereditary spastic paraplegia 11 54 17 151 30 8 260
Developmental and epileptic encephalopathy, 5 0 4 67 31 126 228
Noonan syndrome 4 10 8 115 68 26 227
Familial Mediterranean fever 3 4 152 34 28 221
Maple syrup urine disease 62 32 39 40 46 219
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 4 10 103 64 38 219
Cardiomyopathy, familial restrictive, 3 7 18 100 61 26 212
Dilated cardiomyopathy 1D 7 18 100 61 26 212
Hypertrophic cardiomyopathy 2 7 18 100 61 26 212
Encephalopathy due to GLUT1 deficiency 38 24 67 49 31 209
Fibromatosis, gingival, 1 0 1 113 68 24 206
Amyotrophic lateral sclerosis type 4 0 0 99 66 40 205
Familial Mediterranean fever, autosomal dominant 0 0 2 142 55 199
Amyotrophic lateral sclerosis type 5 4 2 151 30 8 195
Charcot-Marie-Tooth disease axonal type 2X 3 1 151 30 8 193
Donnai-Barrow syndrome 0 0 39 48 106 193
Sotos syndrome 53 11 30 40 59 193
Leber congenital amaurosis 8 48 32 78 24 8 190
Acute febrile neutrophilic dermatosis 0 0 1 138 46 185
Noonan syndrome 9 3 2 61 64 55 185
Retinitis pigmentosa 12 47 33 78 20 7 185
Ehlers-Danlos syndrome, classic type, 1 0 0 0 0 184 184
Fibromuscular dysplasia, multifocal 0 0 0 0 184 184
Fabry disease 79 25 43 15 10 172
Developmental and epileptic encephalopathy, 69 0 3 30 62 74 169
Mucopolysaccharidosis, MPS-III-A 19 18 93 17 19 166
Hereditary insensitivity to pain with anhidrosis 11 10 74 46 22 163
Catecholaminergic polymorphic ventricular tachycardia 2 1 16 87 35 23 162
Carnitine palmitoyl transferase II deficiency, severe infantile form 11 33 77 23 10 154
Autosomal recessive limb-girdle muscular dystrophy type 2F 2 3 98 36 12 151
Pyridoxine-dependent epilepsy 19 12 65 28 27 151
Childhood onset GLUT1 deficiency syndrome 2 0 0 67 49 31 147
Dystonia 9 0 0 67 49 31 147
Hereditary cryohydrocytosis with reduced stomatin 0 0 67 49 31 147
Renal carnitine transport defect 36 30 45 14 22 147
Dilated cardiomyopathy 1L 0 0 96 38 11 145
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 67 49 29 145
Pigmented paravenous retinochoroidal atrophy 25 19 71 20 9 144
Developmental and epileptic encephalopathy, 23 2 3 90 31 16 142
Pendred syndrome 41 36 44 17 0 138
Factor H deficiency 2 4 67 28 35 136
Mucopolysaccharidosis, MPS-IV-A 29 34 26 13 34 136
Age related macular degeneration 4 0 0 67 28 35 130
Basal laminar drusen 0 0 67 28 35 130
Cobalamin C disease 32 24 47 20 7 130
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 0 67 28 35 130
Adrenoleukodystrophy 30 22 32 14 31 129
Mowat-Wilson syndrome 15 1 28 29 55 128
Deficiency of alpha-mannosidase 55 10 17 30 11 123
Neurofibromatosis, type 2 9 1 79 19 14 122
Familial hypokalemia-hypomagnesemia 27 17 16 22 39 121
Usher syndrome type 1D 0 0 34 19 64 117
Autosomal recessive limb-girdle muscular dystrophy type 2D 18 17 61 7 13 116
Cornelia de Lange syndrome 1 28 7 14 25 41 115
KBG syndrome 0 0 0 0 115 115
Cardiac arrhythmia, ankyrin-B-related 0 0 0 0 111 111
Carnitine palmitoyl transferase II deficiency, neonatal form 0 0 77 24 10 111
Ectopia lentis et pupillae 3 5 70 14 17 109
Brittle cornea syndrome 1 0 0 0 0 107 107
Carnitine palmitoyl transferase II deficiency, myopathic form 0 0 77 23 6 106
Coffin-Siris syndrome 1 34 4 13 14 41 106
Ectopia lentis 2, isolated, autosomal recessive 3 5 70 14 13 105
Encephalopathy, acute, infection-induced, susceptibility to, 4 0 0 75 23 6 104
Autosomal recessive nonsyndromic hearing loss 4 23 18 43 18 1 103
Autosomal recessive nonsyndromic hearing loss 12 0 0 31 8 63 102
Ichthyosis vulgaris 22 17 2 3 55 99
Cerebroretinal microangiopathy with calcifications and cysts 1 5 2 44 19 27 97
Autosomal recessive Alport syndrome 0 2 14 13 64 93
Hypercholesterolemia, familial, 4 8 4 32 39 7 90
Miyoshi muscular dystrophy 1 0 0 24 14 50 88
Junctional epidermolysis bullosa, non-Herlitz type 0 0 9 2 75 86
Neuronal ceroid lipofuscinosis 3 10 2 63 8 2 85
Osteogenesis imperfecta type 8 6 10 49 8 12 85
Long QT syndrome 11 0 0 0 0 84 84
Neuronal ceroid lipofuscinosis 5 22 9 35 7 9 82
Junctional epidermolysis bullosa gravis of Herlitz 0 1 13 8 58 80
Hereditary spastic paraplegia 47 6 3 42 20 7 78
Noonan syndrome 8 14 9 29 21 5 78
Aicardi-Goutieres syndrome 6 2 3 43 13 15 76
Immunodeficiency, common variable, 7 3 3 45 11 14 76
Leber congenital amaurosis 6 15 4 33 21 3 76
Nephrotic syndrome, type 2 11 26 13 13 13 76
Cone-rod dystrophy 13 15 3 33 21 3 75
Nemaline myopathy 2 0 0 8 3 63 74
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 27 14 14 7 12 74
Autosomal recessive nonsyndromic hearing loss 2 2 1 24 4 42 73
Oculocutaneous albinism type 1A 43 20 6 3 1 73
Usher syndrome type 1 0 1 21 8 43 73
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 10 7 9 32 13 71
Alternating hemiplegia of childhood 1 0 0 0 0 68 68
Developmental and epileptic encephalopathy 98 0 0 0 0 68 68
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0 0 0 0 68 68
Migraine, familial hemiplegic, 2 0 0 0 0 68 68
Autosomal recessive congenital ichthyosis 1 23 26 1 4 13 67
Polycystic kidney disease 4 2 2 30 12 21 67
Thrombocytopenia 2 0 0 0 0 67 67
Primary ciliary dyskinesia 3 1 2 34 7 21 65
Autosomal dominant nonsyndromic hearing loss 11 0 0 14 5 45 64
Arthrogryposis multiplex congenita 6 0 0 3 1 59 63
Retinitis pigmentosa 25 1 3 12 5 42 63
Tyrosinase-positive oculocutaneous albinism 7 13 21 13 9 63
Usher syndrome type 1F 0 0 19 6 38 63
Agenesis of the corpus callosum with peripheral neuropathy 5 3 9 15 30 62
von Willebrand disease type 1 0 0 0 0 60 60
von Willebrand disease type 2 0 0 0 0 60 60
von Willebrand disease type 3 0 0 0 0 60 60
Deficiency of hydroxymethylglutaryl-CoA lyase 11 3 26 11 7 58
Luscan-Lumish syndrome 0 0 24 4 30 58
Arterial calcification, generalized, of infancy, 2 0 0 0 0 57 57
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 0 0 57 57
Pseudoxanthoma elasticum, forme fruste 0 0 0 1 56 57
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 0 0 56 56
Neu-Laxova syndrome 1 0 10 31 5 10 56
PHGDH deficiency 0 10 31 5 10 56
Dihydropyrimidine dehydrogenase deficiency 1 17 27 6 4 55
MHC class II deficiency 0 0 22 2 31 55
Autosomal dominant nonsyndromic hearing loss 20 0 0 0 0 54 54
Baraitser-winter syndrome 2 0 0 0 0 54 54
Bohring-Opitz syndrome 0 0 0 0 54 54
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 0 0 54 54
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 1 33 9 10 53
Spondyloepiphyseal dysplasia, Kimberley type 0 0 0 0 52 52
Alternating hemiplegia of childhood 2 0 0 0 0 51 51
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 0 0 0 51 51
Developmental and epileptic encephalopathy, 25 3 3 31 4 10 51
Dystonia 12 0 0 0 0 51 51
Lethal Kniest-like syndrome 0 0 0 0 51 51
Lissencephaly 9 with complex brainstem malformation 0 0 7 14 30 51
Autosomal dominant nonsyndromic hearing loss 2A 1 2 21 10 16 50
Deficiency of butyryl-CoA dehydrogenase 2 21 13 8 6 50
Autosomal dominant nonsyndromic hearing loss 56 0 0 0 0 49 49
Cohen syndrome 1 4 22 13 9 49
Developmental and epileptic encephalopathy 99 0 0 0 0 49 49
Developmental and epileptic encephalopathy, 36 0 0 0 0 49 49
Fanconi anemia complementation group A 0 0 13 3 33 49
Ataxia-telangiectasia syndrome 2 2 19 6 18 47
Hearing loss, X-linked 6 0 0 0 0 46 46
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 0 0 46 46
Schwartz-Jampel syndrome 0 0 0 0 46 46
Intellectual disability, autosomal dominant 14 0 0 0 0 45 45
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 4 9 31 44
Pontocerebellar hypoplasia type 9 0 3 22 9 10 44
Salla disease 10 7 7 6 14 44
Steel syndrome 0 0 1 2 41 44
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 4 2 8 11 18 43
Alstrom syndrome 2 2 16 3 20 43
Galactosylceramide beta-galactosidase deficiency 0 1 5 1 36 43
CFHR5 deficiency 0 0 17 13 12 42
Hereditary spastic paraplegia 63 0 1 22 9 10 42
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 5 3 13 10 11 42
Lysinuric protein intolerance 7 0 13 9 13 42
Dystonia 24 0 0 0 0 41 41
GNPTG-mucolipidosis 6 3 13 16 3 41
Hereditary spherocytosis type 1 0 0 0 0 41 41
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 18 2 20 40
Distal myopathy with anterior tibial onset 0 0 18 2 20 40
Focal segmental glomerulosclerosis 1 0 0 0 0 40 40
Geroderma osteodysplastica 1 1 30 1 7 40
Hereditary spastic paraplegia 15 0 0 0 0 40 40
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 0 0 0 39 39
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 0 0 39 39
Autosomal recessive nonsyndromic hearing loss 18A 0 0 2 1 36 39
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 0 0 0 39 39
Epidermolysis bullosa simplex 5C, with pyloric atresia 0 0 0 0 39 39
Epidermolysis bullosa simplex with nail dystrophy 0 0 0 0 39 39
Epidermolysis bullosa simplex, Ogna type 0 0 0 0 39 39
Gnathodiaphyseal dysplasia 0 0 0 2 37 39
Miyoshi muscular dystrophy 3 0 0 0 0 39 39
Usher syndrome type 1C 0 0 2 1 36 39
Werner syndrome 0 0 0 0 39 39
Atrial conduction disease 0 1 27 3 7 38
Autosomal recessive spinocerebellar ataxia 12 0 0 0 0 38 38
Cone-rod dystrophy 10 0 0 28 8 2 38
Developmental and epileptic encephalopathy, 28 0 0 0 0 38 38
Retinitis pigmentosa 35 0 0 28 8 2 38
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 7 5 14 8 4 38
Telangiectasia, hereditary hemorrhagic, type 2 0 0 0 0 38 38
VPS13A-related neurodegenerative disease 0 0 3 2 33 38
Amyotrophic neuralgia 0 0 0 0 37 37
Combined malonic and methylmalonic acidemia 1 0 9 0 27 37
Familial dysautonomia 0 1 8 3 25 37
Hereditary xanthinuria type 1 0 0 0 0 37 37
Hypercholesterolemia, familial, 1 0 3 5 1 28 37
Mucopolysaccharidosis, MPS-II 20 6 3 4 3 36
Bethlem myopathy 1A 0 0 0 0 35 35
Dyskinesia with orofacial involvement, autosomal dominant 0 0 0 0 35 35
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 0 0 35 35
Ullrich congenital muscular dystrophy 1A 0 0 0 0 35 35
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 0 0 34 34
Lymphatic malformation 6 0 0 0 0 34 34
Xeroderma pigmentosum, group C 0 0 0 0 34 34
Autosomal recessive nonsyndromic hearing loss 16 5 7 4 8 9 33
Bartter disease type 4B 0 0 0 0 33 33
Craniometaphyseal dysplasia, autosomal dominant 0 0 0 0 33 33
Juvenile onset Parkinson disease 19A 1 0 13 5 14 33
Ornithine carbamoyltransferase deficiency 20 1 11 0 1 33
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 0 0 0 33 33
Spongy degeneration of central nervous system 16 7 7 1 1 32
Arthrogryposis multiplex congenita 3, myogenic type 0 0 0 0 31 31
Autosomal recessive ataxia, Beauce type 0 0 0 0 31 31
Central core myopathy 0 0 0 0 31 31
Congenital bilateral aplasia of vas deferens from CFTR mutation 2 5 23 1 0 31
Congenital multicore myopathy with external ophthalmoplegia 0 0 0 0 31 31
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 0 22 7 2 31
Ellis-van Creveld syndrome 0 3 6 3 19 31
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 0 0 31 31
King Denborough syndrome 0 0 0 0 31 31
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 0 0 31 31
Adams-Oliver syndrome 1 0 0 0 0 30 30
Pyknodysostosis 2 17 9 1 1 30
Stromme syndrome 0 0 0 0 30 30
Autosomal recessive nonsyndromic hearing loss 23 0 1 15 1 12 29
Ehlers-Danlos syndrome, dermatosparaxis type 0 0 0 0 29 29
Finnish congenital nephrotic syndrome 1 1 7 6 13 28
Glycogen storage disease, type V 0 0 16 3 9 28
Imerslund-Grasbeck syndrome type 1 0 0 0 0 28 28
Niemann-Pick disease, type C1 1 4 8 3 12 28
Primary ciliary dyskinesia 7 0 0 0 0 28 28
Usher syndrome type 2C 0 0 0 0 28 28
Bloom syndrome 0 1 11 3 12 27
Combined immunodeficiency due to DOCK8 deficiency 0 0 0 0 27 27
Mitochondrial complex I deficiency, nuclear type 6 0 1 12 8 6 27
Netherton syndrome 0 0 0 0 27 27
Phenylketonuria 11 6 4 2 4 27
Autosomal recessive nonsyndromic hearing loss 77 0 1 4 1 20 26
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 2 1 23 26
Duchenne muscular dystrophy 2 0 7 2 15 26
Dyskinesia with orofacial involvement, autosomal recessive 0 0 0 0 26 26
Inclusion body myopathy and brain white matter abnormalities 0 0 0 1 25 26
Intellectual disability, autosomal dominant 52 1 3 15 3 4 26
Joubert syndrome 5 2 2 14 2 6 26
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 0 0 0 26 26
Timothy syndrome 0 0 0 0 26 26
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 10 8 3 2 2 25
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 1 11 2 10 25
Baraitser-Winter syndrome 1 0 0 0 0 25 25
Corneal dystrophy-perceptive deafness syndrome 0 0 0 2 23 25
Developmental malformations-deafness-dystonia syndrome 0 0 0 0 25 25
Focal segmental glomerulosclerosis 8 0 0 0 1 24 25
Fraser syndrome 1 0 0 0 0 25 25
Laryngo-onycho-cutaneous syndrome 0 0 2 2 21 25
Nephronophthisis 14 0 0 0 0 25 25
Peroxisome biogenesis disorder 1A (Zellweger) 0 5 8 1 11 25
Arthrogryposis, distal, with impaired proprioception and touch 0 0 0 0 24 24
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 0 0 0 24 24
Bartter disease type 3 0 0 0 0 24 24
Congenital hereditary endothelial dystrophy of cornea 0 0 0 1 23 24
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 0 24 24
Gordon syndrome 0 0 0 0 24 24
Hereditary spastic paraplegia 3A 0 0 0 0 24 24
Marden-Walker syndrome 0 0 0 0 24 24
Neuropathy, hereditary sensory, type 1D 0 0 0 0 24 24
Spinocerebellar ataxia 45 0 0 0 0 24 24
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 0 0 23 23
Age related macular degeneration 9 0 0 0 0 23 23
Amelogenesis imperfecta type 1A 0 0 0 0 23 23
Arrhythmogenic right ventricular dysplasia 2 0 0 0 0 23 23
Cardiac arrhythmia 0 0 0 0 23 23
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 0 0 23 23
Childhood hypophosphatasia 0 2 1 1 19 23
Complement component 3 deficiency 0 0 0 0 23 23
Curry-Hall syndrome 0 0 4 1 18 23
Heterotaxy, visceral, 8, autosomal 0 0 0 0 23 23
Arthrogryposis, distal, type 2B3 0 0 0 0 22 22
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 0 0 0 22 22
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 0 0 22 22
Corticosterone 18-monooxygenase deficiency 0 0 0 1 21 22
Elliptocytosis 2 0 0 0 0 22 22
Freeman-Sheldon syndrome 0 0 0 0 22 22
Hereditary spastic paraplegia 51 0 0 0 0 22 22
Hereditary spherocytosis type 3 0 0 0 0 22 22
Infantile hypophosphatasia 0 0 3 1 18 22
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 0 12 1 9 22
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 0 0 0 22 22
Pyropoikilocytosis, hereditary 0 0 0 0 22 22
Smith-Lemli-Opitz syndrome 3 0 3 3 13 22
Tyrosinemia type I 1 1 2 1 17 22
3M syndrome 2 0 0 0 0 21 21
Asphyxiating thoracic dystrophy 5 0 0 0 0 21 21
Corticosterone methyloxidase type 2 deficiency 0 0 0 0 21 21
Cranioectodermal dysplasia 4 0 0 0 0 21 21
Dyskeratosis congenita, autosomal recessive 5 0 0 0 0 21 21
Farber lipogranulomatosis 0 0 0 0 21 21
Mucolipidosis type II 1 0 9 0 11 21
Nephronophthisis 13 0 0 0 0 21 21
Osteochondritis dissecans 0 0 0 0 21 21
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 0 0 21 21
Retinitis pigmentosa 76 0 0 11 1 9 21
Senior-Loken syndrome 8 0 0 0 0 21 21
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 0 0 0 21 21
Very long chain acyl-CoA dehydrogenase deficiency 2 2 12 1 4 21
Adult hypophosphatasia 0 0 1 1 18 20
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 0 0 0 20 20
Autosomal recessive nonsyndromic hearing loss 30 0 0 0 0 20 20
Charcot-Marie-Tooth disease axonal type 2Z 0 0 0 0 20 20
Citrullinemia type I 1 4 5 0 10 20
Congenital hyperammonemia, type I 0 0 5 0 15 20
Congenital myasthenic syndrome 8 0 0 0 1 19 20
Developmental and epileptic encephalopathy, 42 0 0 0 0 20 20
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 0 0 20 20
Episodic ataxia type 2 0 0 0 0 20 20
Migraine, familial hemiplegic, 1 0 0 0 0 20 20
Mucolipidosis type IV 0 0 6 6 8 20
Multiple sulfatase deficiency 7 0 2 7 4 20
Occult macular dystrophy 0 0 0 0 20 20
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 20 20
Propionic acidemia 0 0 13 1 6 20
Retinitis pigmentosa 88 0 0 0 0 20 20
Severe early-childhood-onset retinal dystrophy 3 0 0 0 17 20
Spinocerebellar ataxia type 6 0 0 0 0 20 20
Carnitine palmitoyl transferase 1A deficiency 0 0 6 0 13 19
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 0 0 19 19
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 3 2 13 19
Lateral meningocele syndrome 0 0 0 0 19 19
Occipital pachygyria and polymicrogyria 0 0 0 0 19 19
Pseudo-Hurler polydystrophy 0 0 8 0 11 19
Autosomal recessive DOPA responsive dystonia 0 1 2 0 15 18
Autosomal recessive nonsyndromic hearing loss 3 0 0 0 0 18 18
Developmental and epileptic encephalopathy, 77 0 0 0 0 18 18
Drash syndrome 0 0 0 0 18 18
Frasier syndrome 0 0 0 0 18 18
Glomerulopathy with fibronectin deposits 2 0 0 0 0 18 18
Meacham syndrome 0 0 0 0 18 18
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 7 1 10 18
Nephrotic syndrome, type 4 0 0 0 0 18 18
Neuropathy, hereditary sensory and autonomic, type 2A 0 0 0 0 18 18
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 0 0 18 18
Stuttering, familial persistent, 1 0 0 0 0 18 18
Weill-Marchesani 4 syndrome, recessive 0 0 0 0 18 18
Wilms tumor 1 0 0 0 0 18 18
Acrokeratosis verruciformis of Hopf 0 0 0 0 17 17
Age related macular degeneration 2 0 0 0 0 17 17
Argininosuccinate lyase deficiency 0 2 6 0 9 17
Autosomal recessive congenital ichthyosis 4A 0 0 0 0 17 17
Autosomal recessive congenital ichthyosis 4B 0 0 0 0 17 17
Benign recurrent intrahepatic cholestasis type 2 1 0 2 0 14 17
Brain small vessel disease 2A, autosomal dominant 0 0 0 0 17 17
Cone-rod dystrophy 3 0 0 0 0 17 17
Congenital myasthenic syndrome 15 0 0 14 1 2 17
Dilated cardiomyopathy 3B 0 0 5 0 12 17
GAPO syndrome 0 0 0 0 17 17
Glycine encephalopathy 0 1 1 1 14 17
Hemochromatosis type 1 1 2 11 0 3 17
Histiocytic medullary reticulosis 0 0 10 1 6 17
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 0 0 14 1 2 17
Iodotyrosyl coupling defect 0 0 0 0 17 17
Keratosis follicularis 0 0 0 0 17 17
Myopathy, epilepsy, and progressive cerebral atrophy 0 0 14 1 2 17
Pelviscapular dysplasia 0 0 8 2 7 17
Polydactyly, postaxial, type a7 0 0 0 0 17 17
Primary ciliary dyskinesia 9 0 0 1 1 15 17
Retinal cone dystrophy 4 0 0 0 0 17 17
Retinitis pigmentosa 19 0 0 0 0 17 17
X-linked Alport syndrome 0 2 2 6 7 17
Autosomal recessive limb-girdle muscular dystrophy type 2O 1 0 11 1 3 16
Bardet-Biedl syndrome 14 0 0 10 0 6 16
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 0 0 16 16
Fibrochondrogenesis 1 0 0 0 0 16 16
Hearing loss, autosomal dominant 37 0 0 0 0 16 16
Hereditary spastic paraplegia 33 0 0 0 0 16 16
Hereditary spherocytosis type 2 0 0 0 0 16 16
Hermansky-Pudlak syndrome 1 1 0 0 0 15 16
Marshall syndrome 0 0 0 0 16 16
Meckel syndrome, type 4 0 0 10 0 6 16
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 0 15 16
Pontocerebellar hypoplasia type 2E 0 0 0 0 16 16
Progressive familial intrahepatic cholestasis type 2 0 0 2 0 14 16
Senior-Loken syndrome 6 0 0 10 0 6 16
Stickler syndrome type 2 0 0 0 0 16 16
Ventriculomegaly-cystic kidney disease 0 0 0 0 16 16
beta Thalassemia 11 0 1 0 4 16
46,XY sex reversal 11 0 0 0 0 15 15
Abetalipoproteinaemia 0 0 7 3 5 15
Achromatopsia 4 1 0 8 2 4 15
Autosomal dominant Alport syndrome 0 0 9 0 6 15
Autosomal dominant nonsyndromic hearing loss 13 0 0 0 0 15 15
Autosomal dominant nonsyndromic hearing loss 4A 0 0 0 0 15 15
Autosomal recessive nonsyndromic hearing loss 53 0 0 0 0 15 15
Bifunctional peroxisomal enzyme deficiency 1 0 2 0 12 15
Desbuquois dysplasia 2 0 0 0 0 15 15
Diabetes insipidus, nephrogenic, autosomal 0 0 1 0 14 15
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 0 0 0 15 15
Fibrochondrogenesis 2 0 0 0 0 15 15
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 0 0 15 15
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 0 0 0 15 15
Hermansky-Pudlak syndrome 3 0 0 1 1 13 15
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 0 0 0 15 15
Mucopolysaccharidosis, MPS-I-H/S 0 0 0 0 15 15
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 0 11 1 3 15
Nephropathic cystinosis 0 0 3 0 12 15
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0 0 0 0 15 15
Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 0 0 0 15 15
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 0 0 0 15 15
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 0 0 0 0 15 15
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 0 0 15 15
Pheochromocytoma 0 0 0 0 15 15
Primary ciliary dyskinesia 18 0 0 0 0 15 15
Primary hyperoxaluria, type I 0 0 0 0 15 15
Sialic acid storage disease, severe infantile type 0 0 1 0 14 15
Van Maldergem syndrome 2 0 0 0 0 15 15
Acyl-CoA dehydrogenase 9 deficiency 0 0 1 1 12 14
Asphyxiating thoracic dystrophy 3 0 0 0 0 14 14
Autosomal recessive limb-girdle muscular dystrophy type 2K 0 0 0 0 14 14
Epithelial recurrent erosion dystrophy 0 0 0 0 14 14
Glycogen storage disease, type IV 0 2 7 2 3 14
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 1 0 4 0 9 14
Hurler syndrome 0 0 0 0 14 14
Hyperprolinemia type 2 0 0 0 0 14 14
Infantile liver failure syndrome 2 0 0 0 0 14 14
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 0 0 0 14 14
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 0 2 1 11 14
Mucopolysaccharidosis, MPS-I-S 0 0 0 0 14 14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 0 0 0 14 14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 0 0 0 0 14 14
Niemann-Pick disease, type A 0 2 5 1 6 14
Peters plus syndrome 0 0 0 0 14 14
Pontocerebellar hypoplasia type 6 0 0 1 1 12 14
Progressive myositis ossificans 0 0 0 0 14 14
Renal tubular acidosis with progressive nerve deafness 0 0 1 0 13 14
Renal tubular dysgenesis 0 0 0 0 14 14
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 0 0 0 0 14 14
Tay-Sachs disease 0 0 3 3 8 14
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 0 0 13 13
Ataxia-hypogonadism-choroidal dystrophy syndrome 0 0 0 0 13 13
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 0 0 13 13
Bardet-Biedl syndrome 2 0 1 5 1 6 13
Bilateral frontoparietal polymicrogyria 0 0 2 0 11 13
Cataract 18 0 0 0 0 13 13
Charcot-Marie-Tooth disease type 4B3 0 0 0 0 13 13
Charcot-Marie-tooth disease, axonal, type 2DD 0 0 0 0 13 13
Ciliary dyskinesia, primary, 40 0 0 0 0 13 13
Deficiency of acetyl-CoA acetyltransferase 0 0 3 0 10 13
Familial cold autoinflammatory syndrome 3 0 0 0 0 13 13
Fanconi anemia complementation group G 0 2 3 4 4 13
Fleck corneal dystrophy 0 0 0 0 13 13
Gaucher disease type I 1 3 7 0 2 13
Heimler syndrome 1 0 0 8 1 4 13
Hereditary spastic paraplegia 39 0 0 0 0 13 13
Hypertrichotic osteochondrodysplasia Cantu type 0 0 0 0 13 13
Hypomagnesemia, seizures, and intellectual disability 2 0 0 0 0 13 13
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 0 0 13 13
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 0 0 13 13
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 0 0 13 13
Joubert syndrome 7 0 0 0 0 13 13
Joubert syndrome 9 0 0 0 0 13 13
Laurence-Moon syndrome 0 0 0 0 13 13
Meckel syndrome, type 6 0 0 0 0 13 13
Metachromatic leukodystrophy 1 1 7 0 4 13
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 0 0 13 13
Myopathy, centronuclear, 2 0 0 0 0 13 13
Ocular cystinosis 0 0 1 0 12 13
Oculotrichoanal syndrome 0 0 0 0 13 13
Osteogenesis imperfecta type III 0 0 0 0 13 13
Osteogenesis imperfecta with normal sclerae, dominant form 0 0 0 0 13 13
Osteogenesis imperfecta, perinatal lethal 0 0 0 0 13 13
Peroxisome biogenesis disorder 1B 0 0 8 1 4 13
Perrault syndrome 1 0 0 1 0 12 13
Retinitis pigmentosa 38 0 0 0 0 13 13
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 0 0 0 13 13
Acrocallosal syndrome 0 0 0 0 12 12
Anterior segment dysgenesis 7 0 0 0 0 12 12
Aortic aneurysm, familial thoracic 4 0 0 0 0 12 12
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 5 0 7 12
Autosomal recessive nonsyndromic hearing loss 28 0 0 0 0 12 12
Baller-Gerold syndrome 0 0 0 0 12 12
Biotinidase deficiency 2 2 5 3 0 12
CHARGE syndrome 0 0 0 0 12 12
Charcot-Marie-Tooth disease type 4D 0 0 0 1 11 12
Developmental and epileptic encephalopathy, 12 0 0 0 0 12 12
Developmental and epileptic encephalopathy, 81 0 0 0 0 12 12
Dilated cardiomyopathy 1JJ 0 0 0 0 12 12
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 0 0 12 12
Epiphyseal dysplasia, multiple, 6 0 0 0 0 12 12
Episodic pain syndrome, familial, 2 0 0 0 0 12 12
Hearing loss, autosomal dominant 71 0 0 0 0 12 12
Hearing loss, autosomal recessive 112 0 0 0 0 12 12
Hereditary acrodermatitis enteropathica 0 0 1 1 10 12
Hydrolethalus syndrome 2 0 0 0 0 12 12
Keratosis pilaris 0 0 0 0 12 12
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 0 2 1 9 12
Meckel syndrome, type 5 0 0 0 0 12 12
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 0 0 12 12
Merosin deficient congenital muscular dystrophy 0 0 0 0 12 12
Microcephaly 4, primary, autosomal recessive 0 0 0 0 12 12
Multiple epiphyseal dysplasia, Al-Gazali type 0 0 0 0 12 12
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 0 0 12 12
Myosclerosis 0 0 0 0 12 12
Oocyte maturation defect 2 0 0 0 0 12 12
Pityriasis rubra pilaris 0 0 0 0 12 12
Platelet-type bleeding disorder 11 0 0 0 0 12 12
Polyendocrine-polyneuropathy syndrome 0 0 0 0 12 12
Primary ciliary dyskinesia 15 0 0 0 0 12 12
Psoriasis 2 0 0 0 0 12 12
Rapadilino syndrome 0 0 0 0 12 12
Retinitis pigmentosa 45 0 0 0 0 12 12
Retinitis pigmentosa 80 0 0 0 0 12 12
Rothmund-Thomson syndrome type 2 0 0 0 0 12 12
Saldino-Mainzer syndrome 0 0 0 0 12 12
Severe combined immunodeficiency due to DCLRE1C deficiency 0 0 6 0 6 12
Sitosterolemia 1 0 0 0 0 12 12
Sponastrime dysplasia 0 0 0 0 12 12
Visceral myopathy 2 0 0 0 0 12 12
Achromatopsia 3 0 0 1 2 8 11
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 0 0 11 11
Ataxia with oculomotor apraxia type 3 0 0 0 0 11 11
Autosomal dominant osteopetrosis 2 0 0 0 0 11 11
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 0 0 11 11
Autosomal recessive nonsyndromic hearing loss 31 0 0 0 0 11 11
Autosomal recessive nonsyndromic hearing loss 84A 0 0 0 0 11 11
Autosomal recessive osteopetrosis 4 0 0 0 0 11 11
Bartsocas-Papas syndrome 1 0 0 0 0 11 11
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 0 0 11 11
Classic homocystinuria 1 0 7 0 3 11
Combined PSAP deficiency 0 0 0 2 9 11
Developmental and epileptic encephalopathy, 30 0 0 0 0 11 11
Dyskeratosis congenita, autosomal dominant 6 0 0 0 0 11 11
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0 0 0 0 11 11
Glucose-6-phosphate transport defect 0 0 4 1 6 11
Hearing loss, autosomal dominant 73 0 0 0 0 11 11
Heimler syndrome 2 0 0 1 0 10 11
Hereditary fructosuria 3 0 2 3 3 11
Hereditary glaucoma, primary closed-angle 0 0 0 0 11 11
Hereditary spastic paraplegia 49 0 0 0 0 11 11
Holocarboxylase synthetase deficiency 0 0 3 1 7 11
Hypopigmentation, organomegaly, and delayed myelination and development 0 0 0 0 11 11
Knobloch syndrome 0 0 0 0 11 11
Krabbe disease due to saposin A deficiency 0 0 0 2 9 11
Lethal osteosclerotic bone dysplasia 0 0 0 0 11 11
MHC class I deficiency 0 0 0 0 11 11
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 0 0 11 11
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 0 0 11 11
Multiple acyl-CoA dehydrogenase deficiency 1 0 4 0 6 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 0 7 1 3 11
Nephronophthisis 4 0 0 0 0 11 11
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 0 0 0 11 11
Neuropathy, hereditary sensory, type 1F 0 0 0 0 11 11
Niemann-Pick disease, type B 1 1 4 1 4 11
Norman-Roberts syndrome 0 0 0 0 11 11
Paroxysmal extreme pain disorder 0 0 0 0 11 11
Peroxisome biogenesis disorder 4A (Zellweger) 0 0 1 0 10 11
Peroxisome biogenesis disorder 4B 0 0 1 0 10 11
Pigmentary retinal dystrophy 0 0 0 0 11 11
Polyglandular autoimmune syndrome, type 1 0 0 1 2 8 11
Primary erythromelalgia 0 0 0 0 11 11
Primary hyperoxaluria, type II 1 0 0 2 8 11
Retinitis pigmentosa 74 0 0 4 1 6 11
Retinitis pigmentosa 86 0 0 0 0 11 11
Schimke immuno-osseous dysplasia 0 0 0 1 10 11
Seckel syndrome 7 0 0 0 0 11 11
Short-rib thoracic dysplasia 8 with or without polydactyly 0 0 0 0 11 11
Sinoatrial node dysfunction and deafness 0 0 0 0 11 11
Sphingolipid activator protein 1 deficiency 0 0 0 2 9 11
Wagner disease 0 0 0 0 11 11
Warsaw breakage syndrome 0 0 0 0 11 11
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 6 1 3 10
ALG1-congenital disorder of glycosylation 0 0 0 0 10 10
Amyotrophic lateral sclerosis type 2, juvenile 0 0 0 0 10 10
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 0 0 0 10 10
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 0 0 10 10
Autosomal dominant nonsyndromic hearing loss 44 0 0 0 0 10 10
Autosomal recessive nonsyndromic hearing loss 18B 0 0 0 0 10 10
Bardet-Biedl syndrome 1 0 0 2 0 8 10
Bardet-Biedl syndrome 13 0 0 4 0 6 10
Brain small vessel disease 1 with or without ocular anomalies 0 0 0 0 10 10
Charcot-Marie-Tooth disease axonal type 2O 0 0 0 0 10 10
Cholestasis, intrahepatic, of pregnancy, 1 0 0 0 0 10 10
Congenital microvillous atrophy 0 0 0 0 10 10
Congenital myotonia, autosomal dominant form 0 0 0 0 10 10
Congenital myotonia, autosomal recessive form 0 0 0 0 10 10
Deficiency of galactokinase 0 1 4 2 3 10
Developmental and epileptic encephalopathy 94 0 0 0 0 10 10
Dilated cardiomyopathy 1KK 0 0 0 0 10 10
Dystonia 27 0 0 0 0 10 10
Familial episodic pain syndrome with predominantly upper body involvement 0 0 0 0 10 10
Global developmental delay with or without impaired intellectual development 0 0 0 0 10 10
Glycogen storage disease, type VII 0 0 4 2 4 10
Immunodeficiency 39 0 0 0 0 10 10
Infantile-onset ascending hereditary spastic paralysis 0 0 0 0 10 10
Intellectual disability, autosomal dominant 13 0 0 0 0 10 10
Intellectual disability, autosomal dominant 54 0 0 0 0 10 10
Isovaleryl-CoA dehydrogenase deficiency 0 0 2 0 8 10
Joubert syndrome 25 0 0 0 0 10 10
Joubert syndrome 28 0 1 4 0 5 10
Juvenile primary lateral sclerosis 0 0 0 0 10 10
MYPN-related myopathy 0 0 0 0 10 10
Microcephaly 1, primary, autosomal recessive 0 0 0 0 10 10
Microcephaly 16, primary, autosomal recessive 0 0 0 0 10 10
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 0 1 0 9 10
Myopathy, congenital, with structured cores and z-line abnormalities 0 0 0 0 10 10
Myopathy, lactic acidosis, and sideroblastic anemia 2 0 0 0 0 10 10
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 0 0 10 10
Neuronal ceroid lipofuscinosis 2 0 1 2 1 6 10
Phosphate transport defect 0 0 4 0 6 10
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 10 10
Polycystic liver disease 2 0 0 0 0 10 10
Progressive familial intrahepatic cholestasis type 1 0 0 0 0 10 10
Proline dehydrogenase deficiency 0 0 0 0 10 10
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 0 0 0 10 10
Retinitis pigmentosa 26 0 0 0 0 10 10
Sandhoff disease 0 1 1 0 8 10
Sucrase-isomaltase deficiency 0 0 0 0 10 10
X-linked progressive cerebellar ataxia 0 0 0 0 10 10
2-aminoadipic 2-oxoadipic aciduria 0 0 0 0 9 9
Adams-Oliver syndrome 2 0 0 0 0 9 9
Adult polyglucosan body disease 0 0 6 0 3 9
Arthrogryposis, distal, type 1B 0 0 0 0 9 9
Aspartylglucosaminuria 0 0 4 0 5 9
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 0 0 9 9
Autosomal dominant nonsyndromic hearing loss 12 0 0 0 0 9 9
Autosomal recessive early-onset Parkinson disease 23 0 0 0 0 9 9
Autosomal recessive limb-girdle muscular dystrophy type 2M 0 0 7 0 2 9
Autosomal recessive nonsyndromic hearing loss 21 0 0 0 0 9 9
Bone marrow failure syndrome 4 0 0 0 0 9 9
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 0 0 9 9
Charcot-Marie-Tooth disease axonal type 2Q 0 0 0 0 9 9
Charcot-Marie-Tooth disease axonal type 2S 0 0 0 0 9 9
Ciliary dyskinesia, primary, 39 0 0 0 0 9 9
Ciliary dyskinesia, primary, 44 0 0 0 0 9 9
Combined oxidative phosphorylation defect type 17 0 0 0 0 9 9
Combined oxidative phosphorylation defect type 8 0 0 0 0 9 9
Congenital heart defects, multiple types, 7 0 0 0 0 9 9
Congenital hypotrichosis with juvenile macular dystrophy 0 0 0 0 9 9
Congenital secretory sodium diarrhea 8 0 0 0 0 9 9
Developmental and epileptic encephalopathy, 68 0 0 0 0 9 9
EEM syndrome 0 0 0 0 9 9
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 0 0 9 9
Ehlers-Danlos syndrome, arthrochalasia type 0 0 0 0 9 9
Episodic ataxia type 6 0 0 5 2 2 9
Fanconi anemia complementation group D2 0 0 0 0 9 9
Fanconi anemia complementation group I 0 0 0 0 9 9
Gamma-aminobutyric acid transaminase deficiency 0 0 0 0 9 9
Geleophysic dysplasia 1 0 0 0 0 9 9
Glutaric aciduria, type 1 0 0 1 1 7 9
Gorlin syndrome 0 0 0 0 9 9
Hereditary factor XI deficiency disease 0 1 0 3 5 9
Hereditary lymphedema type I 0 0 0 0 9 9
Hereditary spastic paraplegia 7 0 0 0 0 9 9
Holoprosencephaly 9 0 0 0 0 9 9
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 1 0 1 7 9
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 0 0 0 9 9
Hypercholanemia, familial 1 0 0 0 0 9 9
Hyperglycinuria 0 0 0 0 9 9
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 0 0 9 9
Infantile GM1 gangliosidosis 1 0 4 1 3 9
Iron-refractory iron deficiency anemia 0 0 0 0 9 9
Isolated focal non-epidermolytic palmoplantar keratoderma 0 0 0 0 9 9
Joubert syndrome 38 0 0 0 0 9 9
Leber congenital amaurosis 2 1 0 3 1 4 9
Lethal congenital contracture syndrome 4 0 0 0 0 9 9
Leukodystrophy and acquired microcephaly with or without dystonia; 0 0 0 0 9 9
Leukoencephalopathy, progressive, with ovarian failure 0 0 0 0 9 9
Lipid proteinosis 1 1 1 2 4 9
Mandibular hypoplasia-deafness-progeroid syndrome 0 0 0 0 9 9
Maturity-onset diabetes of the young type 3 0 0 0 0 9 9
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 4 1 3 9
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 0 0 9 9
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 0 7 0 2 9
Myofibrillar myopathy 8 0 0 0 0 9 9
Myopathy, centronuclear, 5 0 0 0 0 9 9
Myopathy, congenital, with tremor 0 0 0 0 9 9
Neuronal ceroid lipofuscinosis 1 0 0 1 0 8 9
Olmsted syndrome 1 0 0 0 0 9 9
Orofaciodigital syndrome XV 0 0 0 0 9 9
Osteogenesis imperfecta type I 0 0 0 0 9 9
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 0 0 9 9
Peroxisome biogenesis disorder 5A (Zellweger) 0 0 5 3 1 9
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 0 0 9 9
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 0 2 2 5 9
Pyruvate dehydrogenase E3 deficiency 0 0 3 1 5 9
Retinitis pigmentosa 28 0 0 0 2 7 9
Rotor syndrome 0 0 0 0 9 9
Short-rib thoracic dysplasia 21 without polydactyly 0 0 0 0 9 9
Spermatogenic failure 43 0 0 0 0 9 9
Spinocerebellar ataxia type 40 0 0 0 0 9 9
Stuve-Wiedemann syndrome 0 0 0 0 9 9
Vanishing white matter disease 2 0 5 0 2 9
Vertebral, cardiac, renal, and limb defects syndrome 3 0 0 0 0 9 9
Vesicoureteral reflux 8 0 0 0 0 9 9
ZTTK syndrome 0 0 0 0 9 9
3-methylcrotonyl-CoA carboxylase 2 deficiency 2 1 4 0 1 8
AICA-ribosiduria 0 0 0 0 8 8
Achondrogenesis, type IB 0 0 6 1 1 8
Alzheimer disease 4 0 0 0 0 8 8
Amelogenesis imperfecta hypomaturation type 2A3 0 0 0 0 8 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 0 0 0 8 8
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 0 0 0 8 8
Autosomal recessive nonsyndromic hearing loss 1A 4 1 3 0 0 8
Autosomal recessive nonsyndromic hearing loss 9 0 0 0 0 8 8
Autosomal recessive osteopetrosis 1 0 0 2 1 5 8
Autosomal recessive spastic paraplegia type 78 0 0 0 0 8 8
Bardet-Biedl syndrome 12 0 0 5 2 1 8
Brown-Vialetto-van Laere syndrome 1 0 0 0 0 8 8
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 0 0 8 8
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 0 0 8 8
Cenani-Lenz syndactyly syndrome 0 0 0 0 8 8
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 0 0 0 8 8
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 0 0 0 0 8 8
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 0 0 0 8 8
Cerebrooculofacioskeletal syndrome 1 0 1 0 0 7 8
Cognitive impairment with or without cerebellar ataxia 0 0 0 0 8 8
Congenital myasthenic syndrome 11 0 0 1 0 7 8
Congenital myasthenic syndrome 17 0 0 0 0 8 8
Congenital myasthenic syndrome 19 0 0 0 0 8 8
Congenital myasthenic syndrome 4A 0 0 0 0 8 8
Congenital stationary night blindness 1B 0 0 0 0 8 8
Congenital stationary night blindness 1C 0 0 0 0 8 8
DOCK2 deficiency 0 0 0 0 8 8
Deficiency of steroid 17-alpha-monooxygenase 0 0 0 3 5 8
Developmental and epileptic encephalopathy, 13 0 0 0 0 8 8
Developmental and epileptic encephalopathy, 62 0 0 0 0 8 8
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 0 0 0 8 8
Dilated cardiomyopathy 1V 0 0 0 0 8 8
Ehlers-Danlos syndrome, classic type, 2 0 0 0 0 8 8
Ehlers-Danlos syndrome, type 4 0 0 0 0 8 8
Elsahy-Waters syndrome 0 0 0 0 8 8
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 0 0 0 8 8
Epilepsy, familial focal, with variable foci 4 0 0 0 0 8 8
Factor XIII, A subunit, deficiency of 0 0 0 0 8 8
Familial hypobetalipoproteinemia 1 0 0 0 0 8 8
Familial infantile myasthenia 0 0 0 0 8 8
Fetal akinesia deformation sequence 2 0 0 1 0 7 8
Fetal akinesia deformation sequence 4 0 0 0 0 8 8
Frontonasal dysplasia with alopecia and genital anomaly 0 0 0 0 8 8
Fructose-biphosphatase deficiency 0 0 0 0 8 8
Gillespie syndrome 0 0 0 0 8 8
Glaucoma 3A 1 1 0 0 6 8
Gray platelet syndrome 0 0 0 0 8 8
Griscelli syndrome type 1 0 0 0 0 8 8
Hearing loss, autosomal recessive 57 0 0 0 1 7 8
Hydrocephalus, congenital, 3, with brain anomalies 0 0 0 0 8 8
Hypercholesterolemia, autosomal dominant, type B 0 0 0 0 8 8
Hyperekplexia 3 0 0 0 0 8 8
Hyperlipoproteinemia, type I 0 1 6 0 1 8
Hypouricemia, renal, 2 0 0 0 0 8 8
Intellectual developmental disorder 60 with seizures 0 0 0 1 7 8
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 0 0 8 8
Intellectual disability, autosomal dominant 24 0 0 0 0 8 8
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 0 0 8 8
Junctional epidermolysis bullosa with pyloric atresia 0 0 0 0 8 8
Kartagener syndrome 0 1 3 0 4 8
Keratosis palmoplantaris striata 2 0 0 0 0 8 8
Kufor-Rakeb syndrome 0 0 0 0 8 8
Lethal acantholytic epidermolysis bullosa 0 0 0 0 8 8
Lysosomal acid lipase deficiency 0 0 1 0 7 8
MEGF8-related Carpenter syndrome 0 0 0 0 8 8
Maturity-onset diabetes of the young type 11 0 0 0 0 8 8
Metaphyseal anadysplasia 2 0 0 0 0 8 8
Methylcobalamin deficiency type cblE 0 0 0 0 8 8
Methylmalonic acidemia with homocystinuria, type cblX 0 0 0 0 8 8
Microcephaly 21, primary, autosomal recessive 0 0 0 0 8 8
Microcephaly 3, primary, autosomal recessive 0 0 0 0 8 8
Mucopolysaccharidosis type 6 0 2 4 1 1 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 0 3 1 3 8
Myoclonus, familial, 2 0 0 0 0 8 8
Nephronophthisis 15 0 0 0 0 8 8
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 0 0 0 8 8
Neutral 1 amino acid transport defect 0 0 0 0 8 8
Parietal foramina 2 0 0 0 0 8 8
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 0 0 0 8 8
Premature ovarian failure 5 0 0 0 0 8 8
Progressive bulbar palsy of childhood 0 0 0 0 8 8
Sclerosteosis 2 0 0 0 0 8 8
Seizures, benign familial infantile, 5 0 0 0 0 8 8
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 0 0 8 8
Spinocerebellar ataxia type 15/16 0 0 0 0 8 8
Spinocerebellar ataxia type 29 0 0 0 0 8 8
Spinocerebellar ataxia type 35 0 0 0 0 8 8
Spondylo-ocular syndrome 0 0 0 0 8 8
TELO2-related intellectual disability-neurodevelopmental disorder 0 0 0 0 8 8
TFRC-related combined immunodeficiency 0 0 0 0 8 8
Tumoral calcinosis, hyperphosphatemic, familial, 3 0 0 0 0 8 8
Woolly hair-skin fragility syndrome 0 0 0 0 8 8
X-linked chondrodysplasia punctata 1 0 0 0 0 8 8
ALDH18A1-related de Barsy syndrome 0 0 0 0 7 7
ALG6-congenital disorder of glycosylation 1C 0 0 0 0 7 7
Acrofacial dysostosis Cincinnati type 0 0 0 0 7 7
Acyl-CoA oxidase deficiency 0 0 1 1 5 7
Angioedema, hereditary, 4 0 0 0 0 7 7
Atelosteogenesis type II 0 0 6 1 0 7
Autosomal dominant nonsyndromic hearing loss 17 0 0 0 0 7 7
Autosomal dominant nonsyndromic hearing loss 5 0 0 0 0 7 7
Autosomal recessive complex spastic paraplegia type 9B 0 0 0 0 7 7
Autosomal recessive distal renal tubular acidosis 0 0 0 0 7 7
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 0 3 1 3 7
Autosomal recessive spastic paraplegia type 76 0 0 0 0 7 7
Autosomal recessive spinocerebellar ataxia 7 0 0 1 0 6 7
BENTA disease 0 0 0 0 7 7
Bardet-Biedl syndrome 4 0 0 0 0 7 7
Bartter disease type 4A 1 0 0 0 6 7
COG1 congenital disorder of glycosylation 0 0 0 0 7 7
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 0 0 7 7
Cholestasis, progressive familial intrahepatic, 4 0 0 0 0 7 7
Cockayne syndrome type 2 0 0 0 0 7 7
Combined oxidative phosphorylation defect type 20 0 0 0 0 7 7
Congenital dyserythropoietic anemia type type 1B 0 0 0 0 7 7
Congenital lactase deficiency 0 0 0 0 7 7
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 0 1 1 5 7
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 0 0 0 7 7
Congenital myasthenic syndrome 4B 0 0 0 0 7 7
Congenital myasthenic syndrome 4C 0 0 0 0 7 7
Cutis laxa with osteodystrophy 0 0 0 0 7 7
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 0 0 7 7
Cutis laxa, autosomal dominant 3 0 0 0 0 7 7
D-2-hydroxyglutaric aciduria 1 0 0 0 0 7 7
DE SANCTIS-CACCHIONE SYNDROME 0 0 0 0 7 7
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 0 2 1 4 7
Diastrophic dysplasia 0 0 6 1 0 7
Familial hemophagocytic lymphohistiocytosis 3 0 0 0 0 7 7
Familial hemophagocytic lymphohistiocytosis 5 0 0 0 0 7 7
Familial pulmonary capillary hemangiomatosis 0 0 0 0 7 7
Familial visceral amyloidosis, Ostertag type 0 0 0 0 7 7
Fanconi anemia complementation group C 0 0 1 3 3 7
GM1 gangliosidosis type 2 0 0 4 0 3 7
GM1 gangliosidosis type 3 0 0 4 0 3 7
Glaucoma 3, primary congenital, E 0 0 0 0 7 7
Glucocorticoid deficiency with achalasia 0 0 0 0 7 7
Glycogen storage disease, type VI 0 0 0 0 7 7
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 0 0 0 7 7
H syndrome 0 0 0 0 7 7
Harel-Yoon syndrome 0 0 0 0 7 7
Hearing loss, autosomal dominant 72 0 0 0 0 7 7
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 0 0 7 7
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 0 0 0 7 7
Hereditary sensory and autonomic neuropathy type 6 0 0 0 0 7 7
Hereditary spastic paraplegia 9A 0 0 0 0 7 7
Hermansky-Pudlak syndrome 4 0 0 0 0 7 7
Holoprosencephaly 12 with or without pancreatic agenesis 0 0 0 0 7 7
Hyperammonemia, type III 0 0 1 1 5 7
Hypercholesterolemia, autosomal dominant, 3 0 0 0 0 7 7
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 0 0 0 0 7 7
Hypoalphalipoproteinemia, primary, 2 0 0 0 0 7 7
Hypoalphalipoproteinemia, primary, 2, intermediate 0 0 0 0 7 7
Immunodeficiency 11b with atopic dermatitis 0 0 0 0 7 7
Immunodeficiency 79 0 0 0 0 7 7
Inflammatory skin and bowel disease, neonatal, 1 0 0 0 0 7 7
Intellectual disability, autosomal recessive 13 0 0 0 0 7 7
Intellectual disability, autosomal recessive 47 0 0 0 0 7 7
Intellectual disability, autosomal recessive 54 0 0 0 0 7 7
Interstitial lung disease 2 0 0 0 2 5 7
Intestinal hypomagnesemia 1 0 0 0 0 7 7
Isolated anhidrosis with normal sweat glands 0 0 0 0 7 7
Isolated lutropin deficiency 0 0 0 0 7 7
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 0 0 0 7 7
Lymphedema-posterior choanal atresia syndrome 0 0 0 0 7 7
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 0 0 7 7
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 0 0 7 7
Methylcobalamin deficiency type cblG 0 0 0 0 7 7
Mitchell syndrome 0 0 1 1 5 7
Mucopolysaccharidosis, MPS-III-D 0 0 5 1 1 7
Mucopolysaccharidosis, MPS-IV-B 0 0 4 0 3 7
Multiple cutaneous and mucosal venous malformations 0 0 0 0 7 7
Multiple epiphyseal dysplasia type 4 0 0 6 1 0 7
Muscular dystrophy-dystroglycanopathy type B5 0 0 3 1 3 7
Nephrotic syndrome, type 3 0 0 0 0 7 7
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 0 0 7 7
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 0 0 7 7
Optic atrophy 9 0 0 0 0 7 7
Ornithine aminotransferase deficiency 1 0 1 0 5 7
PHARC syndrome 0 0 0 0 7 7
PMM2-congenital disorder of glycosylation 1 0 0 0 6 7
Peroxisome biogenesis disorder 6A (Zellweger) 0 0 2 1 4 7
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 0 0 0 7 7
Pituitary adenoma 5, multiple types 0 0 0 0 7 7
Plasminogen deficiency, type I 0 0 0 0 7 7
Platelet-type bleeding disorder 20 0 0 0 0 7 7
Pontocerebellar hypoplasia type 2A 0 0 0 0 7 7
Pontocerebellar hypoplasia type 3 0 0 0 0 7 7
Pontocerebellar hypoplasia type 4 0 0 0 0 7 7
Pontocerebellar hypoplasia type 5 0 0 0 0 7 7
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 0 0 0 7 7
Pyruvate dehydrogenase E1-beta deficiency 0 0 4 0 3 7
Retinitis pigmentosa 54 0 0 0 0 7 7
Retinitis pigmentosa 77 0 0 0 0 7 7
Retinitis pigmentosa 84 0 0 0 0 7 7
Rothmund-Thomson syndrome type 1 0 0 0 0 7 7
Severe combined immunodeficiency due to CARD11 deficiency 0 0 0 0 7 7
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 1 4 0 2 7
Sjögren-Larsson syndrome 0 0 0 1 6 7
Spinocerebellar ataxia type 42 0 0 0 0 7 7
UV-sensitive syndrome 1 0 0 0 0 7 7
Vissers-Bodmer syndrome 0 0 0 0 7 7
Wrinkly skin syndrome 0 0 0 0 7 7
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 0 0 7 7
ALG8 congenital disorder of glycosylation 0 0 0 0 6 6
Achromatopsia 7 0 0 0 0 6 6
Alazami-Yuan syndrome 0 0 0 0 6 6
Alopecia-intellectual disability syndrome 4 0 1 0 0 5 6
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 4 0 2 6
Alpha-methylacyl-CoA racemase deficiency 0 0 0 0 6 6
Amyotrophic lateral sclerosis type 11 0 0 0 0 6 6
Anterior segment dysgenesis 6 0 0 0 0 6 6
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 0 0 0 6 6
Aortic aneurysm, familial thoracic 7 0 0 0 0 6 6
Arthrogryposis, distal, type 2B2 0 0 0 0 6 6
Asphyxiating thoracic dystrophy 4 0 0 0 0 6 6
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 0 0 0 0 6 6
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 0 0 6 6
Autosomal recessive congenital ichthyosis 10 0 0 0 0 6 6
Autosomal recessive congenital ichthyosis 11 0 0 0 0 6 6
Autosomal recessive nonsyndromic hearing loss 70 0 0 0 0 6 6
Beta-D-mannosidosis 0 0 0 0 6 6
Bethlem myopathy 2 0 0 0 0 6 6
Bilateral parasagittal parieto-occipital polymicrogyria 0 0 0 0 6 6
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 0 0 6 6
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 0 0 6 6
Bronchiectasis with or without elevated sweat chloride 3 0 0 0 0 6 6
Bruck syndrome 2 0 0 0 0 6 6
Cataract 33 0 0 0 0 6 6
Cataract 48 0 0 0 0 6 6
Cataract 6 multiple types 0 0 0 0 6 6
Cerebrooculofacioskeletal syndrome 2 0 0 0 0 6 6
Charcot-Marie-Tooth disease dominant intermediate E 0 0 0 0 6 6
Charcot-Marie-Tooth disease recessive intermediate C 0 0 0 1 5 6
Charcot-Marie-Tooth disease type 4G 0 0 0 0 6 6
Charcot-Marie-Tooth disease type 4H 0 0 0 0 6 6
Charcot-Marie-Tooth disease type 4J 0 0 0 0 6 6
Combined deficiency of sialidase AND beta galactosidase 0 0 0 0 6 6
Combined immunodeficiency with skin granulomas 0 0 4 0 2 6
Combined oxidative phosphorylation defect type 13 0 0 0 0 6 6
Combined oxidative phosphorylation defect type 27 0 0 0 0 6 6
Cone-rod dystrophy 15 0 0 2 0 4 6
Congenital bile acid synthesis defect 4 0 0 0 0 6 6
Congenital diarrhea 6 0 0 0 0 6 6
Congenital dyserythropoietic anemia, type II 0 0 0 0 6 6
Cortical dysplasia-focal epilepsy syndrome 0 0 0 0 6 6
Cowden syndrome 7 0 0 0 0 6 6
Cranioectodermal dysplasia 2 0 0 0 0 6 6
Dalmatian hypouricemia 0 0 0 0 6 6
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 0 0 0 6 6
Developmental and epileptic encephalopathy, 11 0 0 0 0 6 6
Developmental and epileptic encephalopathy, 40 0 0 0 0 6 6
Developmental and epileptic encephalopathy, 41 0 0 0 0 6 6
Developmental and epileptic encephalopathy, 65 0 0 0 0 6 6
Dystonia 28, childhood-onset 0 0 0 0 6 6
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 0 0 0 6 6
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0 0 0 0 6 6
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 0 0 0 6 6
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 0 0 0 6 6
Epilepsy, familial adult myoclonic, 4 0 0 0 0 6 6
Epilepsy, familial adult myoclonic, 6 0 0 0 0 6 6
Epiphyseal dysplasia, multiple, 3 0 0 0 0 6 6
Episodic ataxia, type 9 0 0 0 0 6 6
FG syndrome 1 0 0 0 0 6 6
Familial gestational hyperthyroidism 0 0 0 0 6 6
Familial hyperthyroidism due to mutations in TSH receptor 0 0 0 0 6 6
Frank-Ter Haar syndrome 0 0 0 0 6 6
Fraser syndrome 3 0 0 0 0 6 6
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 0 0 0 6 6
Gaze palsy, familial horizontal, with progressive scoliosis, 2 0 0 0 0 6 6
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 0 0 0 6 6
Hearing loss, autosomal recessive 115 0 0 0 0 6 6
Hemolytic anemia due to hexokinase deficiency 0 0 0 0 6 6
Hereditary diffuse leukoencephalopathy with spheroids 0 0 0 0 6 6
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 0 0 6 6
Hereditary spastic paraplegia 28 0 0 0 0 6 6
Holoprosencephaly 11 0 0 0 0 6 6
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 0 0 0 6 6
Hypogonadotropic hypogonadism 25 with anosmia 0 0 0 0 6 6
Hypothyroidism due to TSH receptor mutations 0 0 0 0 6 6
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 0 0 0 6 6
Immunodeficiency 104 0 0 0 0 6 6
Infantile cerebellar-retinal degeneration 0 0 0 0 6 6
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 0 0 6 6
Inflammatory skin and bowel disease, neonatal, 2 0 0 0 0 6 6
Intellectual disability, FRA12A type 0 0 0 0 6 6
Intellectual disability, autosomal recessive 53 0 0 0 0 6 6
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 5 0 1 6
Interstitial lung disease due to ABCA3 deficiency 0 0 0 0 6 6
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 0 0 0 6 6
Joubert syndrome 1 0 0 0 0 6 6
Joubert syndrome 23 0 0 0 0 6 6
Kindler syndrome 0 0 0 0 6 6
Leber congenital amaurosis 13 1 0 2 0 3 6
Leber congenital amaurosis 19 0 0 0 0 6 6
Liddle syndrome 2 0 0 0 0 6 6
MORM syndrome 0 0 0 0 6 6
Megacystis, microcolon, hypoperistalsis syndrome 0 0 0 0 6 6
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 0 0 0 0 6 6
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 0 0 0 6 6
Methylmalonic aciduria, cblA type 0 0 5 1 0 6
Methylmalonic aciduria, cblB type 1 0 4 0 1 6
Microcephaly 14, primary, autosomal recessive 0 0 0 1 5 6
Microcephaly 17, primary, autosomal recessive 0 0 0 0 6 6
Microcephaly and chorioretinopathy 1 0 0 0 0 6 6
Microcephaly, growth restriction, and increased sister chromatid exchange 2 0 0 0 0 6 6
Microphthalmia with limb anomalies 0 0 0 0 6 6
Mirror movements 1 0 0 0 0 6 6
Multicentric osteolysis nodulosis arthropathy spectrum 0 0 0 0 6 6
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 6 6
Myopathy, proximal, and ophthalmoplegia 0 0 0 0 6 6
Neonatal intrahepatic cholestasis due to citrin deficiency 0 0 4 0 2 6
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0 0 0 0 6 6
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 0 0 0 0 6 6
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 0 0 6 6
Neuronopathy, distal hereditary motor, autosomal recessive 4 0 0 0 1 5 6
Nizon-Isidor syndrome 0 0 0 0 6 6
Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 0 0 0 6 6
Oculocerebrodental syndrome 0 0 0 0 6 6
Oligodontia-cancer predisposition syndrome 0 0 0 0 6 6
Optic atrophy 11 0 0 0 0 6 6
Optic atrophy 5 0 0 0 0 6 6
Osteogenesis imperfecta type 10 0 0 0 0 6 6
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 0 0 0 6 6
Parenti-mignot neurodevelopmental syndrome 0 0 0 0 6 6
Peroxisome biogenesis disorder 5B 0 0 5 1 0 6
Peroxisome biogenesis disorder 9B 0 0 1 1 4 6
Perrault syndrome 4 0 0 0 0 6 6
Premature ovarian failure 15 0 0 0 0 6 6
Premature ovarian failure 8 0 0 0 0 6 6
Primary ciliary dyskinesia 6 0 0 0 0 6 6
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 0 0 0 0 6 6
Progressive familial intrahepatic cholestasis type 3 0 0 0 0 6 6
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 0 0 0 6 6
Retinal dystrophy and obesity 0 0 0 0 6 6
Retinitis pigmentosa 1 0 0 0 0 6 6
Retinitis pigmentosa 79 0 0 0 0 6 6
Rhizomelic chondrodysplasia punctata type 1 0 0 1 0 5 6
Sandestig-stefanova syndrome 0 0 0 0 6 6
Seizures, benign familial infantile, 3 0 0 0 0 6 6
Short-rib thoracic dysplasia 14 with polydactyly 0 0 0 0 6 6
Short-rib thoracic dysplasia 7 with or without polydactyly 0 0 0 0 6 6
Singleton-Merten syndrome 2 0 0 0 0 6 6
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 0 0 0 6 6
Spermatogenic failure 28 0 0 0 0 6 6
Spermatogenic failure 61 0 0 0 0 6 6
Striatonigral degeneration, childhood-onset 0 0 0 0 6 6
Tangier disease 0 0 0 0 6 6
Tetralogy of Fallot 0 0 0 0 6 6
Transketolase deficiency 0 0 0 0 6 6
Trichothiodystrophy 1, photosensitive 0 0 0 0 6 6
Ullrich congenital muscular dystrophy 2 0 0 0 0 6 6
Urinary bladder, atony of 0 0 0 0 6 6
Van Maldergem syndrome 1 0 0 0 0 6 6
Van den Ende-Gupta syndrome 0 0 0 0 6 6
Vici syndrome 0 0 0 0 6 6
Wolcott-Rallison dysplasia 0 0 0 0 6 6
X-linked intellectual disability with marfanoid habitus 0 0 0 0 6 6
X-linked spondyloepimetaphyseal dysplasia 0 0 0 0 6 6
Xeroderma pigmentosum, group D 0 0 0 0 6 6
Yunis-Varon syndrome 0 0 0 0 6 6
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 0 0 0 0 5 5
Acrodysostosis 2 with or without hormone resistance 0 0 0 0 5 5
Acroosteolysis-keloid-like lesions-premature aging syndrome 0 0 0 0 5 5
Alagille syndrome due to a JAG1 point mutation 0 0 0 0 5 5
Aland island eye disease 0 0 0 0 5 5
Arrhythmogenic right ventricular dysplasia 12 0 0 0 0 5 5
Autosomal dominant Robinow syndrome 2 0 0 0 0 5 5
Autosomal dominant hypocalcemia 1 0 0 0 0 5 5
Autosomal dominant vitreoretinochoroidopathy 0 0 0 0 5 5
Autosomal recessive Robinow syndrome 0 0 0 0 5 5
Autosomal recessive bestrophinopathy 0 0 0 0 5 5
Autosomal recessive congenital ichthyosis 3 0 0 0 0 5 5
Autosomal recessive congenital ichthyosis 5 0 0 0 0 5 5
Autosomal recessive congenital ichthyosis 9 0 0 0 0 5 5
Autosomal recessive limb-girdle muscular dystrophy type R18 0 0 0 0 5 5
Autosomal recessive nonsyndromic hearing loss 22 0 0 0 0 5 5
Autosomal recessive nonsyndromic hearing loss 44 0 0 0 0 5 5
Autosomal recessive nonsyndromic hearing loss 8 0 1 0 0 4 5
Autosomal recessive nonsyndromic hearing loss 84B 0 0 0 0 5 5
Autosomal recessive nonsyndromic hearing loss 91 0 0 0 0 5 5
Autosomal recessive nonsyndromic hearing loss 97 0 0 0 0 5 5
Autosomal recessive spinocerebellar ataxia 10 0 0 0 0 5 5
Autosomal recessive spinocerebellar ataxia 13 0 0 0 0 5 5
Bardet-Biedl syndrome 16 0 0 0 0 5 5
Basal ganglia calcification, idiopathic, 4 0 0 0 0 5 5
Blepharophimosis-impaired intellectual development syndrome 0 0 0 0 5 5
Brachydactyly type B1 0 0 0 0 5 5
Branchiootic syndrome 1 0 0 0 0 5 5
Branchiootorenal syndrome 1 0 0 0 0 5 5
Capillary malformation-arteriovenous malformation 2 0 0 0 0 5 5
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 0 0 1 4 5
Cataract 44 0 0 0 0 5 5
Charcot-Marie-Tooth disease axonal type 2CC 0 0 0 0 5 5
Charcot-Marie-Tooth disease type 4C 0 0 0 0 5 5
Cholestasis, intrahepatic, of pregnancy, 3 0 0 0 0 5 5
Choroidal dystrophy, central areolar 2 0 0 0 0 5 5
Citrullinemia, type II, adult-onset 0 0 3 0 2 5
Clark-Baraitser syndrome 0 0 0 0 5 5
Cone-rod dystrophy 12 0 0 0 0 5 5
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 0 0 5 5
Congenital myasthenic syndrome 5 0 0 0 0 5 5
Congenital myopathy with internal nuclei and atypical cores 0 0 0 0 5 5
Congenital stationary night blindness 2A 0 0 0 0 5 5
Cortisone reductase deficiency 1 0 0 0 0 5 5
Cranioectodermal dysplasia 1 0 0 0 0 5 5
Deafness, congenital heart defects, and posterior embryotoxon 0 0 0 0 5 5
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 0 0 5 5
Developmental delay with autism spectrum disorder and gait instability 0 0 0 0 5 5
Dilated cardiomyopathy 1DD 0 0 0 0 5 5
Dubin-Johnson syndrome 0 0 0 0 5 5
Dystonia 32 0 0 0 0 5 5
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 0 0 0 5 5
Ehlers-Danlos syndrome, classic-like, 2 0 0 0 0 5 5
Eichsfeld type congenital muscular dystrophy 0 0 0 0 5 5
Epidermodysplasia verruciformis, susceptibility to, 2 0 0 0 0 5 5
Epidermolysis bullosa simplex 1C, localized 0 0 0 0 5 5
Epilepsy, familial adult myoclonic, 7 0 0 0 0 5 5
Epilepsy, familial focal, with variable foci 3 0 0 0 0 5 5
Epilepsy, progressive myoclonic, 11 0 0 0 0 5 5
Ethylmalonic encephalopathy 0 0 2 0 3 5
FRAXE 0 0 0 0 5 5
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0 0 0 0 5 5
Factor I deficiency 0 0 0 0 5 5
Familial episodic pain syndrome with predominantly lower limb involvement 0 0 0 0 5 5
Familial hyperaldosteronism type III 0 0 0 0 5 5
Familial hypocalciuric hypercalcemia 1 0 0 0 0 5 5
Fanconi anemia complementation group Q 0 0 0 0 5 5
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 0 2 0 3 5
Fibrous dysplasia of jaw 0 0 0 0 5 5
Fraser syndrome 2 0 0 0 0 5 5
GRACILE syndrome 0 0 1 0 4 5
Galloway-Mowat syndrome 3 0 0 0 0 5 5
Galloway-Mowat syndrome 6 0 0 0 0 5 5
Gastrointestinal defects and immunodeficiency syndrome 1 0 0 0 0 5 5
Glaucoma 1, open angle, G 0 0 0 0 5 5
Glucocorticoid deficiency 5 0 0 0 0 5 5
Hearing loss, autosomal dominant 74 0 0 0 0 5 5
Hereditary angioedema type 3 0 0 0 0 5 5
Hereditary sensory and autonomic neuropathy type 7 0 0 0 0 5 5
Hereditary spastic paraplegia 48 0 0 0 0 5 5
Hypertrophic cardiomyopathy 4 0 0 0 0 5 5
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 0 0 5 5
Hypomyelinating leukodystrophy 12 0 0 0 0 5 5
Hypomyelinating leukodystrophy 9 0 0 0 0 5 5
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 0 0 5 5
Immunodeficiency 35 0 0 0 0 5 5
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 0 0 0 5 5
Intellectual developmental disorder 59 0 0 0 0 5 5
Intellectual developmental disorder with neuropsychiatric features 0 0 0 0 5 5
Intellectual developmental disorder, autosomal recessive 71 0 0 0 0 5 5
Intellectual disability, X-linked 100 0 0 0 0 5 5
Intellectual disability, autosomal dominant 53 0 0 0 0 5 5
Intellectual disability, autosomal recessive 46 0 0 0 0 5 5
Intellectual disability, autosomal recessive 63 0 0 0 0 5 5
Intellectual disability, autosomal recessive 65 0 0 0 0 5 5
Isolated cryptophthalmia 0 0 0 0 5 5
Leber congenital amaurosis 15 0 0 0 0 5 5
Leber congenital amaurosis 5 0 0 0 0 5 5
Left ventricular noncompaction 10 0 0 0 0 5 5
Left ventricular noncompaction 8 0 0 0 0 5 5
Leprechaunism syndrome 0 0 0 0 5 5
Lethal arthrogryposis-anterior horn cell disease syndrome 0 0 0 0 5 5
Lethal congenital contracture syndrome 1 0 0 0 0 5 5
Leukocyte adhesion deficiency 1 0 0 0 0 5 5
Leukodystrophy, hypomyelinating, 15 0 0 0 0 5 5
Long QT syndrome 13 0 0 0 0 5 5
Long QT syndrome 2 0 0 0 0 5 5
Lymphatic malformation 7 0 0 0 0 5 5
Meckel syndrome, type 1 0 0 4 0 1 5
Meckel syndrome, type 10 0 0 0 0 5 5
Meester-Loeys syndrome 0 0 0 0 5 5
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 0 0 0 0 5 5
Menke-Hennekam syndrome 2 0 0 0 0 5 5
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 0 0 5 5
Microcephaly 11, primary, autosomal recessive 0 0 0 0 5 5
Microcephaly 22, primary, autosomal recessive 0 0 0 0 5 5
Microcephaly, growth deficiency, seizures, and brain malformations 0 0 0 0 5 5
Microphthalmia, isolated, with coloboma 9 0 0 0 0 5 5
Mitochondrial DNA depletion syndrome 1 0 0 0 0 5 5
Mitochondrial DNA depletion syndrome 4b 0 0 0 0 5 5
Mitochondrial complex I deficiency, nuclear type 16 0 0 0 0 5 5
Mitochondrial complex I deficiency, nuclear type 9 0 0 0 0 5 5
Mitochondrial complex III deficiency nuclear type 1 0 0 1 0 4 5
Mucopolysaccharidosis, MPS-III-C 0 0 1 1 3 5
Multiple endocrine neoplasia type 2A 0 0 0 0 5 5
Multiple endocrine neoplasia type 2B 0 0 0 0 5 5
Myopathy, centronuclear, 6, with fiber-type disproportion 0 0 0 0 5 5
Myopathy, distal, 5 0 0 0 0 5 5
Myopia, high, with cataract and vitreoretinal degeneration 0 0 0 0 5 5
Naxos disease 0 0 0 0 5 5
Neonatal severe primary hyperparathyroidism 0 0 0 0 5 5
Nephrotic syndrome, type 13 0 0 0 0 5 5
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 0 0 5 5
Neuronopathy, distal hereditary motor, type 2D 0 0 0 0 5 5
Neuropathy, hereditary sensory and autonomic, type 1C 0 0 0 0 5 5
Nicolaides-Baraitser syndrome 0 0 0 0 5 5
Niemann-Pick disease, type C2 0 1 3 0 1 5
Optic atrophy 12 0 0 0 0 5 5
Otofaciocervical syndrome 1 0 0 0 0 5 5
PEHO-like syndrome 0 0 0 0 5 5
Pachyonychia congenita 3 0 0 0 0 5 5
Palmoplantar keratoderma, punctate type 1A 0 0 0 0 5 5
Patterned macular dystrophy 1 0 0 0 0 5 5
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 0 0 5 5
Peroxisome biogenesis disorder 6B 0 0 1 0 4 5
Pili torti-deafness syndrome 0 0 1 0 4 5
Platelet-type bleeding disorder 18 0 0 0 0 5 5
Polyglucosan body myopathy type 1 0 0 0 0 5 5
Premature ovarian failure 20 0 0 0 0 5 5
Premature ovarian failure 6 0 0 0 0 5 5
Primary ciliary dyskinesia 13 0 0 0 0 5 5
Primary ciliary dyskinesia 23 0 0 0 0 5 5
Primary hyperoxaluria type 3 0 0 0 2 3 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 0 0 5 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 0 0 0 0 5 5
Progressive sclerosing poliodystrophy 0 0 0 0 5 5
Pyruvate dehydrogenase E2 deficiency 0 0 0 0 5 5
RCBTB1-related retinopathy 0 0 0 0 5 5
Rabson-Mendenhall syndrome 0 0 0 0 5 5
Retinal macular dystrophy type 2 0 0 0 0 5 5
Retinitis pigmentosa 14 0 0 0 0 5 5
Retinitis pigmentosa 41 0 0 0 0 5 5
Retinitis pigmentosa 50 0 0 0 0 5 5
Retinitis pigmentosa 7 0 0 0 0 5 5
Rhizomelic chondrodysplasia punctata type 3 0 0 1 0 4 5
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 0 0 5 5
Schwartz-Jampel syndrome type 1 0 0 0 0 5 5
Senior-Loken syndrome 7 0 0 0 0 5 5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 0 0 0 5 5
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 0 0 0 5 5
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 0 0 5 5
Spastic ataxia 5 0 0 0 0 5 5
Spermatogenic failure 2 0 0 0 0 5 5
Spermatogenic failure 24 0 0 0 0 5 5
Spinocerebellar ataxia 44 0 0 0 0 5 5
Spinocerebellar ataxia type 28 0 0 0 0 5 5
Split-foot malformation-mesoaxial polydactyly syndrome 0 0 0 0 5 5
Spondylocostal dysostosis 1, autosomal recessive 0 0 0 0 5 5
Squalene synthase deficiency 0 0 0 0 5 5
Stargardt disease 4 0 0 0 0 5 5
Sudden cardiac failure, infantile 0 0 0 0 5 5
Susceptibility to mononeuropathy of the median nerve, mild 0 0 0 0 5 5
Symmetrical dyschromatosis of extremities 0 0 0 0 5 5
Trichohepatoenteric syndrome 2 0 0 0 0 5 5
Trimethylaminuria 0 0 0 0 5 5
Triokinase and FMN cyclase deficiency syndrome 0 0 0 0 5 5
Type 2 diabetes mellitus 0 0 0 0 5 5
Vertebral anomalies and variable endocrine and T-cell dysfunction 0 0 0 0 5 5
Vertebral, cardiac, renal, and limb defects syndrome 1 0 0 0 0 5 5
Vitelliform macular dystrophy 2 0 0 0 0 5 5
Vitelliform macular dystrophy 3 0 0 0 0 5 5
Webb-Dattani syndrome 0 0 0 0 5 5
Weiss-Kruszka syndrome 0 0 0 0 5 5
White sponge nevus 2 0 0 0 0 5 5
X-linked Emery-Dreifuss muscular dystrophy 0 0 5 0 0 5
X-linked cone-rod dystrophy 3 0 0 0 0 5 5
X-linked intellectual disability-short stature-overweight syndrome 0 0 0 1 4 5
XFE progeroid syndrome 0 0 0 0 5 5
Xeroderma pigmentosum, group F 0 0 0 0 5 5
3-Methylglutaconic aciduria type 3 0 0 0 0 4 4
3-methylglutaconic aciduria type 9 0 0 0 0 4 4
Abortive cerebellar ataxia 0 0 0 0 4 4
Acrodysostosis 1 with or without hormone resistance 0 0 0 0 4 4
Adams-Oliver syndrome 4 0 0 0 0 4 4
Adermatoglyphia 0 0 0 0 4 4
Alkuraya-Kucinskas syndrome 0 0 0 0 4 4
Amish lethal microcephaly 0 0 0 0 4 4
Amyloidosis, primary localized cutaneous, 2 0 0 0 0 4 4
Ariboflavinosis 0 0 0 0 4 4
Aural atresia, congenital 0 0 0 0 4 4
Auriculocondylar syndrome 2 0 0 0 0 4 4
Autosomal dominant mitochondrial myopathy with exercise intolerance 0 0 0 0 4 4
Autosomal dominant nonsyndromic hearing loss 41 0 0 0 0 4 4
Autosomal dominant nonsyndromic hearing loss 67 0 0 0 0 4 4
Autosomal dominant optic atrophy classic form 0 0 0 0 4 4
Autosomal dominant pseudohypoaldosteronism type 1 0 0 0 0 4 4
Autosomal recessive early-onset Parkinson disease 6 0 0 0 0 4 4
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 0 2 1 1 4
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 0 0 0 4 4
Autosomal recessive nonsyndromic hearing loss 104 0 0 0 0 4 4
Autosomal recessive nonsyndromic hearing loss 66 0 0 0 0 4 4
Autosomal recessive proximal renal tubular acidosis 0 0 0 0 4 4
Autosomal recessive spinocerebellar ataxia 14 0 0 0 0 4 4
Bardet-Biedl syndrome 9 0 0 0 0 4 4
Bartter disease type 5 0 0 0 0 4 4
Basan syndrome 0 0 0 0 4 4
Bietti crystalline corneoretinal dystrophy 0 0 0 0 4 4
Brachydactyly-arterial hypertension syndrome 0 0 0 0 4 4
Brain dopamine-serotonin vesicular transport disease 0 0 0 0 4 4
COG4-congenital disorder of glycosylation 0 0 0 0 4 4
Candidiasis, familial, 9 0 0 0 0 4 4
Carney complex, type 1 0 0 0 0 4 4
Cataract 4 multiple types 1 0 0 0 3 4
Catifa syndrome 0 0 0 0 4 4
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 0 0 0 0 4 4
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 0 0 0 0 4 4
Charcot-Marie-Tooth disease axonal type 2P 0 0 0 0 4 4
Charcot-Marie-Tooth disease axonal type 2V 0 0 1 0 3 4
Charcot-Marie-Tooth disease type 2A1 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 2Y 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 4B2 0 0 0 0 4 4
Ciliary dyskinesia, primary, 45 0 0 0 0 4 4
Cole-Carpenter syndrome 2 0 0 0 0 4 4
Combined oxidative phosphorylation defect type 23 0 0 0 0 4 4
Combined oxidative phosphorylation deficiency 28 0 0 0 0 4 4
Cone-rod dystrophy 5 0 0 0 0 4 4
Congenital afibrinogenemia 0 0 0 0 4 4
Congenital amegakaryocytic thrombocytopenia 2 0 2 0 0 4
Congenital contractural arachnodactyly 0 0 0 0 4 4
Congenital disorder of glycosylation type Ir 0 0 0 0 4 4
Congenital generalized lipodystrophy type 2 0 0 0 0 4 4
Congenital heart defects and ectodermal dysplasia 0 0 0 0 4 4
Congenital hypothalamic hamartoma syndrome 0 0 0 0 4 4
Congenital lipoid adrenal hyperplasia due to STAR deficency 0 0 2 0 2 4
Congenital myasthenic syndrome 1A 0 0 0 0 4 4
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 0 0 0 4 4
Craniolenticulosutural dysplasia 0 0 0 0 4 4
Cutis laxa, X-linked 0 0 2 0 2 4
Cutis laxa, autosomal recessive, type 1B 0 0 0 0 4 4
Cystinuria 0 0 0 0 4 4
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 0 0 0 4 4
Deficiency of steroid 11-beta-monooxygenase 0 0 0 0 4 4
Dejerine-Sottas disease 0 0 0 0 4 4
Developmental and epileptic encephalopathy, 27 0 0 0 0 4 4
Developmental and epileptic encephalopathy, 59 0 0 0 0 4 4
Developmental and epileptic encephalopathy, 79 0 0 0 0 4 4
Developmental and epileptic encephalopathy, 82 0 0 0 0 4 4
Diets-Jongmans syndrome 0 0 0 0 4 4
Dilated cardiomyopathy 1GG 0 0 0 0 4 4
Distal arthrogryposis type 5D 0 0 0 0 4 4
Doyne honeycomb retinal dystrophy 0 0 0 0 4 4
Duane-radial ray syndrome 0 0 0 0 4 4
Ehlers-Danlos syndrome progeroid type 0 0 0 0 4 4
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 0 0 4 4
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 0 0 0 0 4 4
Episodic ataxia type 1 0 0 0 0 4 4
Focal segmental glomerulosclerosis 7 0 0 0 0 4 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 0 0 0 4 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 0 0 0 4 4
GNE myopathy 0 0 1 1 2 4
Gaucher disease perinatal lethal 0 0 0 2 2 4
Hearing loss, autosomal recessive 106 0 0 0 0 4 4
Hearing loss, autosomal recessive 107 0 1 0 0 3 4
Hearing loss, autosomal recessive 108 0 0 0 0 4 4
Hearing loss, autosomal recessive 109 0 0 0 0 4 4
Hecht syndrome 0 0 0 0 4 4
Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 0 0 0 4 4
Hereditary spastic paraplegia 17 0 0 0 0 4 4
Hereditary spastic paraplegia 31 0 0 0 0 4 4
Hereditary spastic paraplegia 50 0 0 0 0 4 4
Hereditary spastic paraplegia 52 0 0 0 0 4 4
Hyaline fibromatosis syndrome 0 0 0 0 4 4
Hyper-IgM syndrome type 2 0 0 0 0 4 4
Hypermanganesemia with dystonia 2 0 0 0 0 4 4
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 0 0 0 4 4
Hyperostosis cranialis interna 0 0 0 0 4 4
Hypertrophic cardiomyopathy 15 0 0 0 0 4 4
Hypogonadotropic hypogonadism 18 with or without anosmia 0 0 0 0 4 4
Hypohidrotic X-linked ectodermal dysplasia 0 0 1 0 3 4
Hypothyroidism, congenital, nongoitrous, 8 0 0 0 0 4 4
Immunodeficiency 63 with lymphoproliferation and autoimmunity 0 0 0 0 4 4
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 0 0 0 0 4 4
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 0 0 0 0 4 4
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 0 0 0 4 4
Indifference to pain, congenital, autosomal dominant 0 0 0 0 4 4
Infantile-onset X-linked spinal muscular atrophy 0 0 0 1 3 4
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 0 0 0 4 4
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 0 0 4 4
Intellectual disability, X-linked 93 0 0 0 0 4 4
Intellectual disability, autosomal dominant 30 0 0 0 0 4 4
Intellectual disability, autosomal dominant 39 0 0 0 0 4 4
Intellectual disability, autosomal dominant 6 0 0 0 0 4 4
Intellectual disability, autosomal recessive 64 0 0 0 0 4 4
Isolated microphthalmia 2 0 0 0 0 4 4
Isolated neonatal sclerosing cholangitis 0 0 0 0 4 4
Johanson-Blizzard syndrome 0 0 0 0 4 4
Joubert syndrome 2 0 0 0 0 4 4
Joubert syndrome 3 0 0 0 0 4 4
Keratoderma with scleroatrophy of the extremities 0 0 0 0 4 4
Legius syndrome 0 0 0 0 4 4
Lethal congenital contracture syndrome 2 0 0 0 0 4 4
Lethal congenital contracture syndrome 3 0 0 0 0 4 4
Lethal multiple pterygium syndrome 0 0 0 0 4 4
Leukodystrophy, hypomyelinating, 16 0 0 0 0 4 4
Lower motor neuron syndrome with late-adult onset 0 0 0 0 4 4
MPI-congenital disorder of glycosylation 0 0 0 0 4 4
Macular degeneration, early-onset 0 0 0 0 4 4
Meckel syndrome, type 2 0 0 0 0 4 4
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 0 0 0 4 4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 0 0 4 4
Meier-Gorlin syndrome 4 0 0 0 0 4 4
Menkes kinky-hair syndrome 0 0 2 0 2 4
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 0 0 0 0 4 4
Microcephaly 13, primary, autosomal recessive 0 0 0 0 4 4
Microcephaly 6, primary, autosomal recessive 0 0 0 0 4 4
Microphthalmia with brain and digit anomalies 0 0 0 0 4 4
Microspherophakia 0 0 0 0 4 4
Mismatch repair cancer syndrome 4 0 0 0 0 4 4
Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 0 0 0 4 4
Mitochondrial complex 2 deficiency, nuclear type 3 0 0 0 0 4 4
Mitochondrial complex I deficiency, nuclear type 1 0 0 0 0 4 4
Mitochondrial complex II deficiency, nuclear type 1 0 0 0 0 4 4
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 0 0 0 4 4
Mosaic variegated aneuploidy syndrome 1 0 0 0 0 4 4
Mucopolysaccharidosis type 7 0 0 0 0 4 4
Mucopolysaccharidosis, MPS-III-B 0 0 1 0 3 4
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 0 0 0 4 4
Multiple synostoses syndrome 3 0 0 0 0 4 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 0 0 0 4 4
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 0 0 0 0 4 4
Myasthenic syndrome, congenital, 1B, fast-channel 0 0 0 0 4 4
Myofibrillar myopathy 7 0 0 0 0 4 4
Myopia 6 0 0 0 0 4 4
Nemaline myopathy 6 0 0 0 0 4 4
Nephronophthisis 16 0 0 0 0 4 4
Nephronophthisis 19 0 0 0 0 4 4
Nephrotic syndrome 14 0 0 0 0 4 4
Nephrotic syndrome, type 12 0 0 0 0 4 4
Nephrotic syndrome, type 17 0 0 0 0 4 4
Neu-Laxova syndrome 2 0 0 0 0 4 4
Neurodegeneration with ataxia and late-onset optic atrophy 0 0 0 0 4 4
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 0 0 0 4 4
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 0 0 0 4 4
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 0 0 0 4 4
Neurodevelopmental disorder with midbrain and hindbrain malformations 0 0 0 0 4 4
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 0 4 4
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 0 0 4 4
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 0 0 0 4 4
Neurodevelopmental disorder with poor language and loss of hand skills 0 0 0 0 4 4
Neuronopathy, distal hereditary motor, type 5B 0 0 0 0 4 4
Neuronopathy, distal hereditary motor, type 5C 0 0 0 0 4 4
Neutrophil immunodeficiency syndrome 0 0 0 0 4 4
Nystagmus 1, congenital, X-linked 0 0 0 0 4 4
Oculofaciocardiodental syndrome 0 0 0 0 4 4
Oculootoradial syndrome 0 0 0 0 4 4
Optic atrophy 3 0 0 0 0 4 4
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 0 0 0 4 4
Orthostatic hypotension 1 0 0 0 0 4 4
PGM1-congenital disorder of glycosylation 0 0 0 0 4 4
PLIN1-related familial partial lipodystrophy 0 0 0 0 4 4
PSAT deficiency 0 0 0 0 4 4
PULMONARY ALVEOLAR MICROLITHIASIS 0 0 0 0 4 4
Palmoplantar keratoderma, epidermolytic 0 0 0 0 4 4
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 0 0 0 4 4
Paroxysmal nocturnal hemoglobinuria 2 0 0 0 0 4 4
Peeling skin syndrome 5 0 0 0 0 4 4
Pheochromocytoma/paraganglioma syndrome 1 0 0 0 0 4 4
Phytanic acid storage disease 0 0 0 0 4 4
Pituitary hormone deficiency, combined, 2 0 0 0 0 4 4
Polycystic kidney disease 5 0 0 0 0 4 4
Primary ciliary dyskinesia 21 0 0 0 0 4 4
Primary ciliary dyskinesia 24 0 0 0 0 4 4
Primary ciliary dyskinesia 27 0 0 0 0 4 4
Primary ciliary dyskinesia 28 0 0 0 0 4 4
Primary ciliary dyskinesia 5 0 0 0 0 4 4
Progressive demyelinating neuropathy with bilateral striatal necrosis 0 0 0 0 4 4
Proteasome-associated autoinflammatory syndrome 3 0 0 0 0 4 4
Protoporphyria, erythropoietic, 1 0 0 0 0 4 4
Purine-nucleoside phosphorylase deficiency 0 0 0 0 4 4
Pyle metaphyseal dysplasia 0 0 0 0 4 4
RAB23-related Carpenter syndrome 0 1 0 2 1 4
Renal coloboma syndrome 0 0 0 0 4 4
Retinitis pigmentosa 20 0 0 3 0 1 4
Retinitis pigmentosa 71 0 0 0 0 4 4
Retinitis pigmentosa 73 0 0 1 0 3 4
Retinitis pigmentosa 87 with choroidal involvement 0 0 0 0 4 4
Retinitis pigmentosa and erythrocytic microcytosis 0 0 0 0 4 4
Seckel syndrome 4 0 0 0 0 4 4
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 0 0 0 0 4 4
Severe neurodegenerative syndrome with lipodystrophy 0 0 0 0 4 4
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 0 0 4 4
Short-rib thoracic dysplasia 11 with or without polydactyly 0 0 0 0 4 4
Shwachman-Diamond syndrome 2 0 0 0 0 4 4
Sialuria 1 0 0 0 3 4
Smith-Magenis syndrome 0 0 0 0 4 4
Spinocerebellar ataxia type 5 0 0 0 0 4 4
Spinocerebellar ataxia, autosomal recessive 22 0 0 0 0 4 4
Spinocerebellar ataxia, autosomal recessive 26 0 0 0 0 4 4
Spondyloepimetaphyseal dysplasia, Krakow type 0 0 0 0 4 4
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 0 0 0 0 4 4
Structural heart defects and renal anomalies syndrome 0 0 0 0 4 4
Surfactant metabolism dysfunction, pulmonary, 1 0 0 0 0 4 4
Syndromic X-linked intellectual disability 94 0 0 0 0 4 4
Urocanate hydratase deficiency 0 0 0 0 4 4
Visceral myopathy 1 0 0 0 0 4 4
Visceral neuropathy, familial 0 0 0 0 4 4
Warburg-cinotti syndrome 0 0 0 0 4 4
Weaver syndrome 0 0 0 0 4 4
Weill-Marchesani syndrome 1 0 0 0 0 4 4
Weill-Marchesani syndrome 3 0 0 0 0 4 4
X-linked agammaglobulinemia 0 0 0 0 4 4
X-linked agammaglobulinemia with growth hormone deficiency 0 0 0 0 4 4
X-linked distal spinal muscular atrophy type 3 0 0 2 0 2 4
X-linked intellectual disability, Stocco dos Santos type 0 0 0 0 4 4
X-linked severe combined immunodeficiency 0 0 2 2 0 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 0 0 0 3 3
Achondrogenesis, type IA 0 0 0 0 3 3
Acrocapitofemoral dysplasia 0 0 0 0 3 3
Agammaglobulinemia 4, autosomal recessive 0 0 0 0 3 3
Agammaglobulinemia 7, autosomal recessive 0 0 0 0 3 3
Alagille syndrome due to a NOTCH2 point mutation 0 0 0 0 3 3
Alopecia universalis congenita 0 0 0 0 3 3
Alopecia-intellectual disability syndrome 1 0 0 0 0 3 3
Amelogenesis imperfecta, hypocalcification type 0 0 0 0 3 3
Amyotrophic lateral sclerosis type 19 0 0 0 0 3 3
Aortic aneurysm, familial thoracic 8 0 0 0 0 3 3
Arrhythmogenic right ventricular dysplasia 5 0 0 0 0 3 3
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 0 0 0 3 3
Arthrogryposis, Perthes disease, and upward gaze palsy 0 0 0 0 3 3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 0 0 0 3 3
Atrial septal defect 4 0 0 0 0 3 3
Atrichia with papular lesions 0 0 0 0 3 3
Autoinflammation with arthritis and dyskeratosis 0 0 0 0 3 3
Autosomal dominant Opitz G/BBB syndrome 0 0 0 0 3 3
Autosomal dominant aplasia and myelodysplasia 0 0 0 0 3 3
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 0 0 3 3
Autosomal dominant nonsyndromic hearing loss 10 1 0 0 0 2 3
Autosomal dominant nonsyndromic hearing loss 22 0 0 0 0 3 3
Autosomal dominant nonsyndromic hearing loss 28 0 0 0 0 3 3
Autosomal dominant popliteal pterygium syndrome 0 0 0 0 3 3
Autosomal recessive congenital ichthyosis 2 0 0 0 0 3 3
Autosomal recessive limb-girdle muscular dystrophy type 2X 0 0 0 0 3 3
Autosomal recessive nonsyndromic hearing loss 32 0 0 0 0 3 3
Autosomal recessive nonsyndromic hearing loss 37 0 0 0 0 3 3
Bardet-Biedl syndrome 10 0 1 1 1 0 3
Bardet-Biedl syndrome 22 0 0 0 0 3 3
Beck-Fahrner syndrome 0 0 0 0 3 3
Blepharocheilodontic syndrome 1 0 0 0 0 3 3
Branchiootorenal syndrome 2 0 0 0 0 3 3
Brunner syndrome 0 0 0 0 3 3
CARASIL syndrome 0 0 0 0 3 3
COG5-congenital disorder of glycosylation 0 0 0 0 3 3
COG6-congenital disorder of glycosylation 0 0 0 0 3 3
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 0 0 0 3 3
Cardiofaciocutaneous syndrome 4 0 0 0 0 3 3
Cataract 12 multiple types 0 0 0 0 3 3
Cataract 3 multiple types 0 1 0 0 2 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 0 0 3 3
Cerebroretinal microangiopathy with calcifications and cysts 2 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 2D 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 2R 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 4F 0 0 0 0 3 3
Chronic infantile neurological, cutaneous and articular syndrome 0 0 0 0 3 3
Chudley-McCullough syndrome 0 0 0 0 3 3
Ciliary dyskinesia, primary, 37 0 0 0 0 3 3
Ciliary dyskinesia, primary, 47, and lissencephaly 0 0 0 0 3 3
Classic dopamine transporter deficiency syndrome 0 0 0 0 3 3
Coenzyme Q10 deficiency, primary, 1 0 0 0 0 3 3
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 0 0 3 3
Combined immunodeficiency due to CTPS1 deficiency 0 0 0 0 3 3
Combined immunodeficiency due to STIM1 deficiency 0 0 0 0 3 3
Combined immunodeficiency, X-linked 0 0 2 1 0 3
Combined oxidative phosphorylation defect type 11 0 0 0 0 3 3
Combined oxidative phosphorylation defect type 4 0 0 0 0 3 3
Combined oxidative phosphorylation deficiency 34 0 0 0 0 3 3
Combined oxidative phosphorylation deficiency 40 0 0 0 0 3 3
Cone-rod dystrophy 7 0 0 0 0 3 3
Cone-rod synaptic disorder, congenital nonprogressive 0 0 0 0 3 3
Congenital generalized lipodystrophy type 1 0 0 0 0 3 3
Congenital heart defects, multiple types, 5 0 0 0 0 3 3
Congenital myasthenic syndrome 10 0 0 0 0 3 3
Congenital myasthenic syndrome 12 0 0 0 0 3 3
Congenital myasthenic syndrome 7 0 0 0 0 3 3
Congenital nonprogressive myopathy with Moebius and Robin sequences 0 0 0 0 3 3
Congenital stationary night blindness autosomal dominant 2 1 0 0 0 2 3
Corneal dystrophy, Fuchs endothelial, 3 0 0 0 0 3 3
Corneal dystrophy, posterior polymorphous, 4 0 0 0 0 3 3
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 0 0 0 0 3 3
Cornelia de Lange syndrome 4 0 0 0 0 3 3
Creatine transporter deficiency 0 0 0 0 3 3
Cutis laxa, autosomal dominant 1 0 0 0 0 3 3
Cystathioninuria 0 0 2 0 1 3
DICER1-related tumor predisposition 0 0 0 0 3 3
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 0 0 0 3 3
Deafness-lymphedema-leukemia syndrome 0 0 0 0 3 3
Deeah syndrome 0 0 0 0 3 3
Deficiency of ferroxidase 0 0 0 0 3 3
Deficiency of guanidinoacetate methyltransferase 0 0 0 0 3 3
Dentinogenesis imperfecta type 2 0 0 0 0 3 3
Dentinogenesis imperfecta type 3 0 0 0 0 3 3
Desmin-related myofibrillar myopathy 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 15 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 34 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 35 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 49 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 53 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 61 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 64 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 7 0 0 0 0 3 3
Developmental and epileptic encephalopathy, 80 0 0 0 0 3 3
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 0 0 0 3 3
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 0 0 3 3
Diaphanospondylodysostosis 0 0 0 0 3 3
Diencephalic-mesencephalic junction dysplasia syndrome 2 0 0 0 0 3 3
Dilated cardiomyopathy 1I 0 0 0 0 3 3
Dyskeratosis congenita, X-linked 0 0 0 0 3 3
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 0 0 0 3 3
Early-onset Parkinson disease 20 0 0 0 0 3 3
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 0 0 0 0 3 3
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 0 0 0 0 3 3
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 0 0 0 3 3
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 0 0 0 3 3
Enhanced S-cone syndrome 0 0 1 0 2 3
Epilepsy, familial adult myoclonic, 5 0 0 0 0 3 3
Epilepsy, familial focal, with variable foci 1 0 0 0 0 3 3
Erythrokeratodermia variabilis et progressiva 6 0 0 0 0 3 3
Euthyroid goiter 0 0 0 0 3 3
Exudative vitreoretinopathy 5 0 0 0 0 3 3
Factor XIII, b subunit, deficiency of 0 0 0 0 3 3
Familial amyloid nephropathy with urticaria AND deafness 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 3 3
Familial cold autoinflammatory syndrome 1 0 0 0 0 3 3
Familial cold autoinflammatory syndrome 2 0 0 0 0 3 3
Familial isolated congenital asplenia 0 0 0 0 3 3
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 0 0 3 3
Fanconi anemia complementation group E 0 0 0 0 3 3
Fanconi anemia complementation group P 0 0 0 0 3 3
Fanconi anemia, complementation group W 0 0 0 0 3 3
Fanconi renotubular syndrome 5 0 0 0 0 3 3
Fetal akinesia deformation sequence 3 0 0 0 0 3 3
Finnish type amyloidosis 0 0 0 0 3 3
Floating-Harbor syndrome 0 0 0 0 3 3
Focal segmental glomerulosclerosis 6 0 0 0 0 3 3
Fowler syndrome 0 0 0 0 3 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 0 0 0 0 3 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 0 0 3 3
Galloway-Mowat syndrome 7 0 0 0 0 3 3
Gaucher disease type II 0 0 3 0 0 3
Generalized epilepsy with febrile seizures plus, type 9 0 0 0 0 3 3
Glanzmann thrombasthenia 1 0 0 0 0 3 3
Glucocorticoid deficiency 4 0 0 0 0 3 3
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 0 2 0 1 3
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 0 0 0 0 3 3
Granulocytopenia with immunoglobulin abnormality 0 0 0 0 3 3
Greenberg dysplasia 0 0 0 0 3 3
Griscelli syndrome type 3 0 0 0 0 3 3
Hajdu-Cheney syndrome 0 0 0 0 3 3
Hemochromatosis type 4 0 0 0 0 3 3
Hennekam lymphangiectasia-lymphedema syndrome 3 0 0 0 0 3 3
Hereditary antithrombin deficiency 0 0 0 0 3 3
Hereditary diffuse gastric adenocarcinoma 0 0 0 0 3 3
Hereditary factor IX deficiency disease 0 1 0 1 1 3
Hereditary factor VIII deficiency disease 0 0 0 0 3 3
Hereditary factor X deficiency disease 0 0 0 0 3 3
Hereditary spastic paraplegia 35 1 0 0 0 2 3
Hereditary spastic paraplegia 53 0 0 0 0 3 3
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 0 0 0 0 3 3
Heterotaxy, visceral, 4, autosomal 0 0 0 0 3 3
Holoprosencephaly 7 0 0 0 0 3 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 0 0 0 3 3
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 0 0 0 0 3 3
Hyperinsulinemic hypoglycemia, familial, 2 1 0 0 1 1 3
Hyperphosphatasia with intellectual disability syndrome 2 0 0 0 0 3 3
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 0 0 0 0 3 3
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 0 0 0 0 3 3
Hypophosphatemic rickets, autosomal recessive, 1 0 0 0 0 3 3
Hypothalamic hypothyroidism 0 0 0 0 3 3
Immunodeficiency 36 with lymphoproliferation 0 0 0 0 3 3
Immunodeficiency 45 0 0 0 0 3 3
Immunodeficiency, common variable, 1 0 0 0 0 3 3
Immunodeficiency, common variable, 10 0 0 0 0 3 3
Immunodeficiency, common variable, 12 0 0 0 0 3 3
Immunodeficiency, common variable, 2 0 0 0 0 3 3
Infantile bilateral striatal necrosis 0 0 0 0 3 3
Infantile liver failure syndrome 3 0 0 0 0 3 3
Intellectual developmental disorder, X-linked 108 0 0 0 0 3 3
Intellectual disability, X-linked syndromic, Turner type 0 0 0 0 3 3
Intellectual disability, autosomal dominant 3 0 0 0 0 3 3
Intellectual disability, autosomal recessive 12 0 0 0 0 3 3
Intellectual disability, autosomal recessive 2 0 0 0 0 3 3
Jawad syndrome 0 0 0 0 3 3
Joubert syndrome 24 0 0 0 0 3 3
Joubert syndrome 27 0 0 0 0 3 3
Joubert syndrome 32 0 0 0 0 3 3
Kabuki syndrome 2 0 0 0 0 3 3
Karyomegalic interstitial nephritis 0 0 0 0 3 3
Keipert syndrome 0 0 0 0 3 3
Keratitis fugax hereditaria 0 0 0 0 3 3
Kleefstra syndrome 1 0 0 0 0 3 3
L-2-hydroxyglutaric aciduria 0 0 0 0 3 3
Lenz-Majewski hyperostosis syndrome 0 0 0 0 3 3
Lethal congenital contracture syndrome 7 0 0 0 0 3 3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 0 0 0 3 3
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 0 0 3 3
Lichtenstein-Knorr syndrome 0 0 0 0 3 3
Lissencephaly 10 0 0 0 0 3 3
Macular degeneration, X-linked atrophic 0 0 0 0 3 3
Mandibulofacial dysostosis-microcephaly syndrome 0 0 0 0 3 3
Martsolf syndrome 0 0 0 0 3 3
Meckel syndrome, type 8 0 0 0 0 3 3
Meckel syndrome, type 9 0 0 0 0 3 3
Meier-Gorlin syndrome 2 0 0 0 0 3 3
Microcephaly 19, primary, autosomal recessive 0 0 0 0 3 3
Microcephaly 20, primary, autosomal recessive 0 0 0 0 3 3
Microcephaly 7, primary, autosomal recessive 0 0 0 0 3 3
Microcytic anemia with liver iron overload 0 0 0 0 3 3
Microphthalmia, isolated, with coloboma 3 0 0 0 0 3 3
Miller syndrome 0 0 0 0 3 3
Mitochondrial DNA depletion syndrome 16 (hepatic type) 0 0 0 0 3 3
Mitochondrial DNA depletion syndrome 18 0 0 0 0 3 3
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 0 0 3 3
Mitochondrial DNA depletion syndrome, myopathic form 0 0 0 0 3 3
Mitochondrial complex I deficiency, nuclear type 15 0 0 0 0 3 3
Mitochondrial complex I deficiency, nuclear type 17 0 0 0 0 3 3
Mitochondrial complex I deficiency, nuclear type 22 0 0 0 0 3 3
Mitochondrial complex I deficiency, nuclear type 5 0 0 0 0 3 3
Mitochondrial complex III deficiency nuclear type 6 0 0 0 0 3 3
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) 0 0 0 0 3 3
Monocytopenia with susceptibility to infections 0 0 0 0 3 3
Mungan syndrome 0 0 0 0 3 3
Myasthenic syndrome, congenital, 22 0 0 0 0 3 3
Myasthenic syndrome, congenital, 24, presynaptic 0 0 0 0 3 3
Myasthenic syndrome, congenital, 25, presynaptic 0 0 0 0 3 3
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 0 0 0 3 3
Myofibrillar myopathy 6 0 0 0 0 3 3
Myoglobinuria, acute recurrent, autosomal recessive 0 0 0 0 3 3
Myopathy, distal, with rimmed vacuoles 0 0 0 0 3 3
Myopathy, tubular aggregate, 1 0 0 0 0 3 3
NEK9-related lethal skeletal dysplasia 0 0 0 0 3 3
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 0 0 0 0 3 3
Nail-patella syndrome 0 0 0 0 3 3
Nail-patella-like renal disease 0 0 0 0 3 3
Nephrotic syndrome 15 0 0 0 0 3 3
Nephrotic syndrome, type 11 0 0 0 0 3 3
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 0 0 0 3 3
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 0 0 0 3 3
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity 0 0 0 0 3 3
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 0 0 3 3
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0 0 0 0 3 3
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 0 0 3 3
Neurogenic scapuloperoneal syndrome, Kaeser type 0 0 0 0 3 3
Neuronal ceroid lipofuscinosis 13 0 0 0 0 3 3
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 0 0 0 3 3
Neuronopathy, distal hereditary motor, autosomal recessive 8 0 0 0 0 3 3
Neuronopathy, distal hereditary motor, type 5A 0 0 0 0 3 3
Neuronopathy, distal hereditary motor, type 9 0 0 0 0 3 3
Neuropathy, congenital hypomyelinating, 3 0 0 0 0 3 3
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy 0 0 0 0 3 3
Neuropathy, hereditary sensory and autonomic, type 2B 0 0 0 0 3 3
Neutral lipid storage myopathy 0 0 0 0 3 3
Oculocutaneous albinism type 7 0 0 0 0 3 3
Oculomaxillofacial dysostosis 0 0 0 0 3 3
Odonto-onycho-dermal dysplasia 0 1 1 1 0 3
Odontochondrodysplasia 1 0 0 0 0 3 3
Oguchi disease-1 0 0 0 0 3 3
Oroticaciduria 0 0 0 0 3 3
Osteogenesis imperfecta type 13 0 0 0 0 3 3
Osteogenesis imperfecta type 17 0 0 0 0 3 3
Osteogenesis imperfecta type 7 0 0 0 0 3 3
Pachyonychia congenita 4 0 0 0 0 3 3
Paget disease of bone 3 0 0 0 0 3 3
Palmoplantar keratoderma i, striate, focal, or diffuse 0 0 0 0 3 3
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 0 0 0 3 3
Pelger-Huët anomaly 0 0 0 0 3 3
Peroxisome biogenesis disorder 13A (Zellweger) 0 0 0 0 3 3
Peroxisome biogenesis disorder 8A (Zellweger) 0 0 0 0 3 3
Peroxisome biogenesis disorder 8B 0 0 0 0 3 3
Pili torti-developmental delay-neurological abnormalities syndrome 0 0 0 0 3 3
Pitt-Hopkins syndrome 0 0 0 0 3 3
Polycystic kidney disease, adult type 0 0 0 0 3 3
Polydactyly of a biphalangeal thumb 0 0 0 0 3 3
Polydactyly, postaxial, type A8 0 0 0 0 3 3
Pontocerebellar hypoplasia type 1A 0 0 0 0 3 3
Pontocerebellar hypoplasia type 2D 0 0 1 0 2 3
Posterior column ataxia-retinitis pigmentosa syndrome 0 0 0 0 3 3
Primary ciliary dyskinesia 33 0 0 0 0 3 3
Primary coenzyme Q10 deficiency 8 0 0 0 0 3 3
Primary hypomagnesemia 0 0 0 0 3 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 0 0 0 3 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 0 0 0 3 3
Progressive familial heart block type IB 0 0 0 0 3 3
Progressive myoclonic epilepsy type 6 0 0 0 0 3 3
Prostate cancer 0 0 0 0 3 3
Pseudohypoaldosteronism type 2D 0 0 0 0 3 3
Pulp calcification 0 0 0 0 3 3
RIDDLE syndrome 0 0 0 0 3 3
RIN2 syndrome 0 0 0 1 2 3
Radio-Tartaglia syndrome 0 0 0 0 3 3
Rafiq syndrome 0 0 0 0 3 3
Renal hypodysplasia/aplasia 1 0 0 0 0 3 3
Respiratory papillomatosis, juvenile recurrent, congenital 0 0 0 0 3 3
Retinal dystrophy with leukodystrophy 0 0 0 0 3 3
Retinitis pigmentosa 3 0 0 0 0 3 3
Retinitis pigmentosa 33 0 0 0 0 3 3
Retinitis pigmentosa 4 0 0 0 0 3 3
Retinitis pigmentosa 49 0 0 0 0 3 3
Retinitis pigmentosa 56 0 0 0 0 3 3
Retinitis pigmentosa 9 0 0 0 0 3 3
Retinoblastoma 0 0 0 0 3 3
Reynolds syndrome 0 0 0 0 3 3
Rhizomelic limb shortening with dysmorphic features 0 0 0 0 3 3
Ritscher-Schinzel syndrome 2 0 0 0 0 3 3
Roberts-SC phocomelia syndrome 0 0 0 1 2 3
SHORT syndrome 0 0 0 0 3 3
STT3A-congenital disorder of glycosylation 0 0 0 0 3 3
Seckel syndrome 2 0 0 0 0 3 3
Seizures, benign familial neonatal, 1 0 0 0 0 3 3
Severe combined immunodeficiency due to CARMIL2 deficiency 0 0 0 0 3 3
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 0 0 0 3 3
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 0 0 0 3 3
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 0 0 0 3 3
Short stature and microcephaly with genital anomalies 0 0 0 0 3 3
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 0 0 3 3
Short-rib thoracic dysplasia 6 with or without polydactyly 0 0 0 0 3 3
Sideroblastic anemia 2 0 0 0 0 3 3
Sifrim-Hitz-Weiss syndrome 0 0 0 0 3 3
Snijders Blok-Campeau syndrome 0 1 0 0 2 3
Spastic ataxia 1 0 0 0 0 3 3
Spastic ataxia 2 0 0 0 0 3 3
Spastic ataxia 4 0 0 0 0 3 3
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 0 0 3 3
Spastic paraplegia, optic atropy, and neuropathy 0 0 0 0 3 3
Spermatogenic failure 18 0 0 0 0 3 3
Spermatogenic failure 35 0 0 0 0 3 3
Spinal muscular atrophy, infantile, James type 0 0 0 0 3 3
Spinocerebellar ataxia 47 0 0 0 0 3 3
Spinocerebellar ataxia type 14 0 0 0 0 3 3
Spinocerebellar ataxia type 26 0 0 0 0 3 3
Spondyloenchondrodysplasia with immune dysregulation 0 0 0 0 3 3
Stormorken syndrome 0 0 0 0 3 3
Surfactant metabolism dysfunction, pulmonary, 2 0 0 0 0 3 3
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 0 0 0 3 3
TMEM165-congenital disorder of glycosylation 0 0 0 0 3 3
Tay-Sachs disease, variant AB 0 0 0 0 3 3
Teebi hypertelorism syndrome 0 0 0 0 3 3
Temtamy preaxial brachydactyly syndrome 0 0 0 0 3 3
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 0 0 3 3
Thrombophilia due to protein C deficiency, autosomal recessive 0 0 0 0 3 3
Thyroid dyshormonogenesis 1 0 0 0 0 3 3
Townes-Brocks syndrome 1 0 0 0 0 3 3
Transcobalamin II deficiency 0 0 0 0 3 3
Tremor, hereditary essential, 4 0 0 0 0 3 3
Tremor, hereditary essential, 5 0 0 0 0 3 3
Tricho-dento-osseous syndrome 0 0 0 0 3 3
Trichohepatoenteric syndrome 1 0 0 0 0 3 3
Trichothiodystrophy 7, nonphotosensitive 0 0 0 0 3 3
Urofacial syndrome type 1 0 0 0 0 3 3
Usher syndrome, type 4 0 0 0 0 3 3
Ventriculomegaly and arthrogryposis 0 0 0 0 3 3
Vitamin D-dependent rickets type II with alopecia 0 0 0 0 3 3
Vitelliform macular dystrophy 5 0 0 0 0 3 3
Warburg micro syndrome 2 0 0 0 0 3 3
Warburg micro syndrome 4 0 0 0 0 3 3
X-linked cone-rod dystrophy 1 0 0 0 0 3 3
3 beta-Hydroxysteroid dehydrogenase deficiency 1 0 1 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 0 0 0 2 2
3M syndrome 1 0 0 0 0 2 2
ALG9 congenital disorder of glycosylation 0 0 0 0 2 2
Aarskog syndrome 0 0 0 0 2 2
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 0 0 0 2 2
Adult-onset proximal spinal muscular atrophy, autosomal dominant 0 0 0 0 2 2
Agammaglobulinemia 5, autosomal dominant 0 0 0 0 2 2
Agammaglobulinemia 8, autosomal dominant 0 0 0 0 2 2
Aicardi-Goutieres syndrome 5 0 0 0 0 2 2
Aicardi-Goutieres syndrome 7 0 0 0 0