ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Location: United States  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 association total
2809 1218 8279 8227 9476 1 30010

Gene and significance breakdown #

Total genes and gene combinations: 2116
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
TTN 3 16 356 276 277 0 928
BRCA2 148 13 143 196 168 0 668
PKD1 55 20 97 85 179 0 436
CFTR 101 29 176 63 33 0 402
PIEZO1 6 4 119 158 90 0 377
F8 143 88 57 15 22 0 325
BRCA1 67 9 45 95 90 0 306
FBN1 51 34 79 84 57 0 305
NF1 123 25 46 41 68 0 303
SPTA1 27 13 123 67 66 0 296
SPTB 45 15 94 84 56 0 294
VWF 36 27 88 45 65 0 261
ANK1 39 19 64 73 51 0 246
HSPG2 1 1 76 88 73 0 239
DMD 54 4 46 41 79 0 224
ATP7B 55 28 65 36 31 0 215
NOTCH3 28 27 41 55 63 0 214
FBN2 0 0 56 61 62 0 179
FLNA 1 0 48 83 47 0 179
HBB, LOC106099062, LOC107133510 86 15 34 38 6 0 179
HSALR1, PIEZO1 0 2 54 61 58 0 175
APC 35 6 31 39 50 0 161
TSC2 23 10 23 48 57 0 161
ACVRL1 58 17 23 11 51 0 160
ACADVL 33 25 73 18 10 0 159
DYNC2H1 6 8 69 31 45 0 159
COL1A1 24 25 32 37 38 0 156
NOTCH1 0 1 38 70 46 0 155
COL5A1 2 1 40 55 52 0 150
APOB 2 3 39 61 42 0 147
RYR2 0 0 35 40 69 0 144
ATM 11 0 36 45 46 0 138
MYLK 0 0 48 53 36 0 137
SLC4A1 30 11 43 28 23 0 135
HBA2, LOC106804612 34 11 23 58 6 0 132
MSH6 30 4 29 28 26 0 117
ENG 44 8 27 13 22 0 114
FLNB 0 2 33 39 39 0 113
PCNT 0 0 14 55 41 0 110
USH2A 4 0 30 13 63 0 110
MEFV 5 0 47 31 26 0 109
CDAN1 2 1 43 41 21 0 108
COL1A2 9 9 23 43 22 0 106
HBA1, LOC106804613 16 13 22 47 8 0 106
NOD2 0 1 44 43 18 0 106
MSH2 17 1 36 26 24 0 104
COL5A2 0 0 31 33 39 0 103
COL2A1 7 20 8 28 38 0 101
CTRC 5 14 28 35 18 0 100
PMS2 13 3 23 24 37 0 100
SBF1 0 0 38 36 26 0 100
MYBPC3 13 4 26 31 25 0 99
FLNC 1 1 23 38 33 0 96
ACADM 29 14 29 3 20 0 95
DSP 1 3 32 35 24 0 95
POLE 0 0 30 27 36 0 93
SCN5A 5 3 28 26 30 0 92
CACNA1C 0 2 15 36 36 0 89
MYH11 0 1 30 35 23 0 89
LPIN2 0 1 36 37 13 0 87
WFS1 1 2 23 23 38 0 87
MYH6 0 0 19 30 36 0 85
COL3A1 7 5 21 26 25 0 84
HBB, LOC107133510, LOC110006319 24 7 14 27 12 0 84
LDLR 26 13 12 14 18 0 83
DNAH11 0 1 21 30 30 0 82
NLRP12 0 0 29 25 28 0 82
F9 51 16 8 2 4 0 81
PTPN11 44 4 6 8 19 0 81
RYR1 11 6 19 20 25 0 81
MEN1 31 13 10 13 13 0 80
DYNC1H1 0 1 12 29 37 0 79
KIF1A 0 0 19 29 31 0 79
PKLR 12 10 42 10 5 0 79
PSTPIP1 0 0 27 25 27 0 79
RET 26 3 15 17 17 0 78
EVC2 6 0 15 27 29 0 77
G6PD 22 7 17 19 12 0 77
ALMS1 0 0 26 23 27 0 76
MYH11, NDE1 0 0 19 28 28 0 75
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 12 8 36 13 6 0 75
DNAH1 0 0 11 25 38 0 74
MLH1 8 4 17 20 23 0 72
KMT2D 2 0 20 19 30 0 71
TRIP11 0 0 24 18 29 0 71
CBS 7 3 21 24 15 0 70
HK1 0 1 18 30 21 0 70
NLRP3 5 2 18 26 19 0 70
PALB2 10 0 15 23 21 0 69
ADGRV1 0 0 23 11 32 0 66
GAA 7 5 15 22 17 0 66
GJB2 32 8 7 10 9 0 66
SETX 0 0 22 25 19 0 66
INF2 0 0 17 24 24 0 65
DNAH5 1 2 17 19 25 0 64
PLOD1 1 0 25 18 20 0 64
SKI 0 0 20 29 15 0 64
CUBN 2 1 20 9 31 0 63
FGFR3 11 1 9 15 27 0 63
KCNH2 4 6 18 19 16 0 63
SEC23B 6 2 21 17 17 0 63
SLCO1B3, SLCO1B3-SLCO1B7 3 2 27 18 13 0 63
ANK2 0 0 17 17 28 0 62
MYH7 11 3 8 14 26 0 62
TRPV4 0 1 13 25 23 0 62
GALT 22 15 12 3 9 0 61
MYH9 3 1 6 21 30 0 61
PRSS1, TRB 5 2 18 25 11 0 61
DICER1 0 0 11 24 24 0 59
ATM, C11orf65 8 5 15 17 13 0 58
CDH1 6 0 10 14 28 0 58
PFKM 1 3 22 20 12 0 58
SOS1 12 0 10 14 22 0 58
TTR 13 6 13 16 10 0 58
WNK1 0 0 21 21 16 0 58
EPB42 1 1 28 19 8 0 57
RTEL1, RTEL1-TNFRSF6B 0 0 4 22 31 0 57
TP53 10 3 11 17 16 0 57
ALPK3 3 0 15 22 16 0 56
SMARCA4 0 0 9 27 20 0 56
BMPR2 22 4 14 8 7 0 55
EVC 3 0 10 21 20 0 54
SYNE1 0 1 29 17 7 0 54
FLCN 23 1 10 12 7 0 53
SLX4 0 0 4 15 34 0 53
IGHMBP2 1 0 17 18 16 0 52
SLCO1B1 2 2 17 12 19 0 52
EIF2AK4 1 0 10 18 22 0 51
ENG, LOC102723566 23 4 8 7 9 0 51
MVK 6 1 16 15 13 0 51
MYO15A 0 3 23 6 19 0 51
BRCA1, LOC126862571 13 0 11 13 13 0 50
BRIP1 4 0 19 13 14 0 50
PLCG2 0 0 9 14 27 0 50
PRDM16 0 0 9 23 18 0 50
TSC1 8 0 8 15 19 0 50
EPB41 2 2 24 13 8 0 49
KCNQ1 12 2 8 18 9 0 49
POLD1 0 0 13 12 24 0 49
ANKRD26 0 0 6 14 28 0 48
PKP2 5 1 16 10 16 0 48
RBM20 1 0 17 17 13 0 48
AGL 2 0 14 19 12 0 47
FANCA 1 0 5 12 29 0 47
KIF1B 0 0 12 11 24 0 47
LZTR1 2 3 15 15 12 0 47
MUTYH 7 1 10 14 15 0 47
PLEKHG5 0 1 14 17 15 0 47
GCK 12 14 6 6 8 0 46
NEK1 2 0 16 17 11 0 46
P3H1 2 0 13 13 18 0 46
PKD2 17 3 11 2 13 0 46
POR 0 0 16 21 9 0 46
CFTR, LOC111674472 17 2 16 7 3 0 45
EPHB4 5 3 14 13 10 0 45
LDB3 0 0 18 9 18 0 45
LRBA 1 2 17 13 12 0 45
SCN1A, SCN9A 1 0 23 9 12 0 45
ABCA4 3 8 10 4 19 0 44
COL11A2 0 0 14 14 16 0 44
PRX 1 1 18 14 10 0 44
SDHA 3 0 4 10 27 0 44
TERT 0 1 11 19 13 0 44
TTC21B 0 1 15 10 18 0 44
GPI 5 0 14 17 7 0 43
LMNA 3 2 13 13 12 0 43
MECP2 21 2 4 3 13 0 43
SLC22A5 15 3 9 3 13 0 43
PCSK9 0 1 6 4 31 0 42
SPINK1 4 0 19 7 12 0 42
TGFBR2 0 2 11 18 11 0 42
WDR19 0 1 18 15 8 0 42
CCNH, RASA1 13 3 5 11 9 0 41
CDH23 0 3 15 4 19 0 41
DNMT1 0 0 9 18 14 0 41
JUP 0 0 13 17 11 0 41
LAMA4 0 0 8 12 21 0 41
PTEN 8 2 8 8 15 0 41
DCTN1 0 0 12 17 11 0 40
ELP1 0 0 18 8 14 0 40
MYH14 0 0 20 4 16 0 40
NBN 3 0 9 12 16 0 40
SH3TC2 2 0 14 15 9 0 40
SLC2A10 1 1 15 11 12 0 40
AARS1 0 1 10 13 15 0 39
ABCC9 0 0 8 12 19 0 39
ALK 0 0 7 9 23 0 39
ALPL 7 5 9 9 9 0 39
AXIN2 0 0 9 15 15 0 39
CYB5R3 1 0 19 10 9 0 39
FAT4 0 0 12 14 13 0 39
GCLC 0 0 14 16 9 0 39
LIFR 0 0 10 11 18 0 39
SMAD4 4 0 13 14 8 0 39
TRDN 0 0 14 16 9 0 39
COL4A5 5 10 3 3 16 0 37
COL5A1, LOC101448202 1 0 8 12 16 0 37
GSS 0 0 14 21 2 0 37
AKAP9 0 0 17 10 9 0 36
FKBP10 0 1 16 11 8 0 36
INSR 0 2 5 3 26 0 36
MFN2 3 2 12 8 11 0 36
CHEK2 6 5 12 8 4 0 35
DSG2 0 1 7 13 14 0 35
PCDH15 0 0 16 4 15 0 35
TRPM4 0 0 10 10 15 0 35
CTC1 2 1 5 7 19 0 34
DHTKD1 1 0 15 14 4 0 34
OTOF 1 0 13 7 13 0 34
SLC26A2 4 0 10 5 15 0 34
TNFRSF1A 1 2 15 10 6 0 34
WDR35 0 5 11 9 9 0 34
ABCC8 1 1 7 14 10 0 33
CBL 0 2 5 9 17 0 33
CHD7 13 1 1 3 15 0 33
COL11A1 0 0 3 12 18 0 33
DHCR7 8 2 5 4 14 0 33
HEXA 5 2 11 8 7 0 33
KIF5A 2 1 5 16 9 0 33
SDHB 7 4 3 8 11 0 33
BTD 11 6 6 2 7 0 32
EFEMP2 1 0 12 14 5 0 32
HNF1A 14 1 5 5 7 0 32
VCL 0 0 5 7 20 0 32
BAG3 0 0 7 8 16 0 31
BLM 2 0 4 13 12 0 31
GSR 0 0 16 9 6 0 31
MLH3 0 0 8 9 14 0 31
NTRK1 0 0 12 7 12 0 31
PTCH1 0 0 5 11 15 0 31
STK11 2 1 6 12 10 0 31
BARD1 1 0 7 7 15 0 30
FANCD2, LOC107303338 1 1 2 0 26 0 30
LRP5 0 0 7 9 14 0 30
PRKAG2 0 0 8 9 13 0 30
SAMD9 0 0 7 11 12 0 30
ATP7A 2 2 8 5 12 0 29
COMP 0 3 4 12 10 0 29
DNM2 0 0 7 10 12 0 29
MED25 0 0 8 9 12 0 29
MYO7A 0 1 9 6 13 0 29
SAMD9L 0 0 5 10 14 0 29
TCF3 0 0 6 13 10 0 29
UGT1A, UGT1A10, UGT1A7, UGT1A8, UGT1A9 0 0 14 8 7 0 29
CCDC40 0 0 4 11 13 0 28
DLL3 0 0 9 13 6 0 28
ELANE 1 1 13 5 8 0 28
GNPAT 0 1 7 10 10 0 28
LOC126862264, MEFV 7 2 5 7 7 0 28
RAD51D, RAD51L3-RFFL 2 1 9 12 4 0 28
SLC26A4 5 1 8 3 11 0 28
ACTN2 0 0 9 6 12 0 27
BRAF 5 1 1 6 14 0 27
ERCC6L2 0 1 4 9 13 0 27
MAP2K2 0 1 8 4 14 0 27
MSH3 1 1 9 9 7 0 27
SLC12A6 1 1 5 11 9 0 27
SOS2 0 0 5 9 13 0 27
TNFAIP3 0 0 14 8 5 0 27
AK1, ST6GALNAC4-ST6GALNAC6-AK1 0 0 8 9 9 0 26
FGFR1 0 1 6 8 11 0 26
FGFR2 2 0 4 6 14 0 26
MARS1 0 0 11 7 8 0 26
MC1R 0 0 8 13 5 0 26
MYPN 0 0 7 10 9 0 26
NT5C3A 1 0 10 7 8 0 26
TET2 0 1 4 8 13 0 26
TMEM43 0 0 6 9 11 0 26
TNFRSF13B 5 2 6 6 7 0 26
ANKRD11 1 0 5 8 11 0 25
BICD2 0 0 7 12 6 0 25
COL4A3, MFF-DT 1 6 4 6 8 0 25
DES 0 0 11 6 8 0 25
FANCI 0 0 2 4 19 0 25
GARS1 0 1 10 8 6 0 25
MET 0 0 10 5 10 0 25
POLG 2 4 7 3 9 0 25
TEK 2 0 2 8 13 0 25
TGFBR1 0 1 12 5 7 0 25
ABCD1, PLXNB3 13 2 3 1 5 0 24
DSC2 0 0 11 9 4 0 24
FLT4 0 0 6 10 8 0 24
GLI2 1 0 7 2 14 0 24
INSL6, JAK2 0 0 4 11 9 0 24
PRKG1 0 0 3 10 11 0 24
RAF1 5 2 4 4 9 0 24
TBCEL-TECTA, TECTA 0 1 10 6 7 0 24
CACNA1A 2 2 5 7 7 0 23
CFTR, LOC111674477 3 0 12 4 4 0 23
EPAS1 0 1 2 7 13 0 23
HCN4 0 0 4 5 14 0 23
KRIT1 12 0 4 3 4 0 23
LBR 0 0 9 7 7 0 23
SKIC3 0 1 4 12 6 0 23
SMAD3 1 2 5 10 5 0 23
TGFB3 0 1 11 4 7 0 23
TPI1 0 0 5 10 8 0 23
ATR 0 0 4 7 11 0 22
CACNA1S 1 0 3 6 12 0 22
CPT2 2 0 5 8 7 0 22
EYS 2 0 3 4 13 0 22
HNF4A 2 5 4 4 7 0 22
IFT80, TRIM59-IFT80 0 3 7 7 5 0 22
PDGFRA 0 0 9 7 6 0 22
PLOD3 0 0 5 6 11 0 22
RB1 4 0 1 10 7 0 22
ALDOA, LOC112694756 0 0 5 11 5 0 21
CEP290 3 1 5 3 9 0 21
CR2 1 0 6 8 6 0 21
DDR2 0 0 4 7 10 0 21
FIG4 1 0 7 6 7 0 21
FPGT-TNNI3K, TNNI3K 0 0 6 5 10 0 21
GATA2 1 3 6 3 8 0 21
JPH2 0 1 4 7 9 0 21
LRSAM1 0 0 9 7 5 0 21
MRE11 0 0 9 6 6 0 21
OBSCN 0 0 1 13 7 0 21
PIK3CD 1 0 4 4 12 0 21
PTH1R 1 0 5 10 5 0 21
SH2B3 0 0 3 10 8 0 21
TNNT2 0 1 5 3 12 0 21
UNC80 0 0 4 7 10 0 21
USH1C 0 0 7 6 8 0 21
FKTN 0 0 6 5 9 0 20
HSPG2, LDLRAD2 0 0 8 6 6 0 20
KCNT1 0 1 3 8 8 0 20
LOX, SRFBP1 0 0 8 7 5 0 20
TGFB2 1 2 5 3 9 0 20
ASS1 2 5 1 1 10 0 19
CNGB1 0 0 5 4 10 0 19
CPT1A 0 0 4 4 11 0 19
CRTAP 2 0 9 3 5 0 19
GDF2 0 0 8 9 2 0 19
MORC2 1 0 3 8 7 0 19
PGK1 1 0 8 9 1 0 19
SMARCA2 0 0 1 7 11 0 19
SZT2 0 0 5 10 4 0 19
TCN2 0 2 2 9 6 0 19
ACTA2 1 1 7 8 1 0 18
ARSL 0 0 1 3 14 0 18
BAP1 1 0 4 7 6 0 18
CACNB2 0 0 6 6 6 0 18
CARD11 0 1 2 12 3 0 18
CCM2 3 0 0 5 10 0 18
DISP1 0 0 4 2 12 0 18
ERCC4 0 0 1 7 10 0 18
GBA1, LOC106627981 11 0 3 1 3 0 18
IGLL1 0 1 3 4 10 0 18
LOC101928008, SBF2 0 0 7 7 4 0 18
MYO3A 0 2 9 0 7 0 18
ODAD1 1 0 2 4 11 0 18
SERPINH1 0 0 7 8 3 0 18
SOX9 6 0 2 7 3 0 18
ZFP57 0 0 3 10 5 0 18
CTNNA1 0 0 5 6 6 0 17
DMXL2 0 0 5 4 8 0 17
FGD4 0 0 6 7 4 0 17
KARS1 0 0 11 3 3 0 17
KCNQ2 2 2 4 4 5 0 17
MTMR2 0 0 7 4 6 0 17
PTPN23 0 0 4 8 5 0 17
PYGM 1 0 7 3 6 0 17
RECQL 0 0 9 7 1 0 17
RPGRIP1 0 0 5 3 9 0 17
SBF2 0 0 10 3 4 0 17
SPTLC2 0 0 8 3 6 0 17
UGT1A, UGT1A10, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 8 3 6 0 17
WRAP53 0 0 5 5 7 0 17
CILK1 0 0 3 9 4 0 16
CSF3R 0 0 3 4 9 0 16
EGR2 0 1 8 7 0 0 16
FH 2 2 4 3 5 0 16
GUCY2D 2 0 4 0 10 0 16
HIF1A 0 0 2 9 5 0 16
MTOR 0 0 2 6 8 0 16
MTRR 1 0 5 1 9 0 16
NEXN 0 0 8 3 5 0 16
RAG1 0 0 5 3 8 0 16
RP1 0 0 4 7 5 0 16
SDHC 2 2 0 5 7 0 16
TFG 0 0 7 1 8 0 16
VPS13A 0 0 4 4 8 0 16
BMPR1A 1 1 2 4 7 0 15
CACNA1E 0 0 3 2 10 0 15
CD19 0 2 7 3 3 0 15
COL4A1 0 0 3 7 5 0 15
CSRP3 0 1 4 5 5 0 15
DIAPH1 0 0 6 5 4 0 15
DNAAF1 0 0 3 3 9 0 15
DNMT3B 0 1 3 6 5 0 15
DTNA 0 0 1 5 9 0 15
EGLN1 0 1 5 3 6 0 15
EPHB4, LOC126860124 1 4 4 3 3 0 15
FHL1 1 1 3 7 3 0 15
GAN 1 2 5 4 3 0 15
GLMN 5 3 0 1 6 0 15
GRIN2B 0 0 5 5 5 0 15
KIT 0 0 3 6 6 0 15
LOC101927055, TTN 0 1 4 1 9 0 15
LOC110121269, SCN5A 0 2 4 6 3 0 15
LPIN1 1 0 3 8 3 0 15
MTR 0 0 3 4 8 0 15
NDRG1 0 0 5 5 5 0 15
PCARE 0 0 4 4 7 0 15
PHKB 0 1 1 4 9 0 15
PRPF8 0 0 0 5 10 0 15
RELN 0 0 2 7 6 0 15
SCN1B 0 0 6 5 4 0 15
SDHD 5 2 3 0 5 0 15
SETBP1 0 0 4 5 6 0 15
TRIOBP 0 0 4 5 6 0 15
ACAT1 0 2 4 4 4 0 14
ANO5 0 0 2 1 11 0 14
BTK 2 2 4 2 4 0 14
COL4A4 1 5 1 2 5 0 14
CRB1 2 1 2 5 4 0 14
DCLRE1C 0 0 1 9 4 0 14
DDX41 4 0 2 2 6 0 14
DEPDC5 0 1 2 8 3 0 14
DHFR, MSH3 0 0 1 2 11 0 14
DNAAF5 0 0 3 9 2 0 14
FBLN5 0 1 5 3 5 0 14
FKRP 2 0 4 3 5 0 14
LDLRAP1 0 0 4 7 3 0 14
MMUT 2 3 4 0 5 0 14
MPZ 3 4 5 1 1 0 14
MTHFR 0 0 3 5 5 1 14
NRXN1 0 0 5 3 6 0 14
PTPRC 0 0 8 4 2 0 14
PYGL 0 0 2 6 6 0 14
SLC34A3 0 0 3 9 2 0 14
SMAD9 0 1 3 6 4 0 14
SNTA1 0 0 5 3 6 0 14
SPTAN1 0 0 2 5 7 0 14
AGPS 0 0 2 6 5 0 13
APP 0 0 2 5 6 0 13
ARHGEF10 0 0 4 2 7 0 13
BGN 0 0 3 5 5 0 13
BSCL2, HNRNPUL2-BSCL2 1 0 7 4 1 0 13
CACNA1D 0 0 5 5 3 0 13
CEBPA 0 1 3 2 7 0 13
CEL 0 0 3 5 5 0 13
CFTR, LOC111674475 8 0 2 3 0 0 13
DMP1, DSPP 0 0 1 1 11 0 13
EPOR 0 0 2 6 5 0 13
ETV6 0 0 7 3 3 0 13
FOXE3, LINC01389 0 1 3 7 2 0 13
GATA4 0 0 1 5 7 0 13
GATA6 0 0 4 4 5 0 13
GJB1 6 3 3 0 1 0 13
GSR, LOC130000170 0 0 7 2 4 0 13
HARS1 0 0 8 2 3 0 13
KCNJ11 1 0 4 5 3 0 13
KCNMA1 0 0 4 6 3 0 13
LARS2 0 0 1 3 9 0 13
LOC114827851, MYH6 0 0 2 3 8 0 13
LOC126806422, TTN 1 1 4 4 3 0 13
LOC126806427, TTN 0 0 2 4 7 0 13
LOXHD1 0 0 1 5 7 0 13
LRRC8A 0 0 1 1 11 0 13
MAP2K1 1 0 2 2 8 0 13
MBD4 0 0 3 4 6 0 13
MERTK 1 2 2 3 5 0 13
MYLK2 0 0 2 3 8 0 13
NKX2-5 0 0 2 5 6 0 13
ODAD2 0 0 4 3 6 0 13
OTC 3 3 2 0 5 0 13
PIK3R1 1 0 3 4 5 0 13
RETREG1 0 1 3 3 6 0 13
SEC24D 0 0 1 7 5 0 13
SPRED1 0 0 2 5 6 0 13
SPTLC1 0 1 3 3 6 0 13
TNNI3 1 1 2 3 6 0 13
TRIM2 0 0 5 7 1 0 13
WHRN 0 1 9 0 3 0 13
ACD 0 0 4 3 5 0 12
ADA 1 0 4 3 4 0 12
ARFGEF2 0 0 3 6 3 0 12
CASQ2 0 0 5 2 5 0 12
DNAI2 1 0 2 5 4 0 12
DNAJC21 0 0 3 4 5 0 12
DPYD 2 0 3 4 3 0 12
HCFC1 0 0 2 4 6 0 12
HOXD10 0 0 6 2 4 0 12
KCNA5 0 0 4 3 5 0 12
KCNJ2 1 1 6 3 1 0 12
KRAS 3 0 0 4 5 0 12
LITAF 1 0 4 3 4 0 12
LOC126862987, SEC23B 1 0 5 5 1 0 12
MOGS 0 0 1 4 7 0 12
MYO6 0 2 3 1 6 0 12
NFKB2 1 0 1 5 5 0 12
PDE6A 0 0 4 2 6 0 12
PDE6B 0 0 3 2 7 0 12
PEX6 0 0 5 1 6 0 12
RAD51C 1 0 1 2 8 0 12
RASA1 2 0 2 4 4 0 12
RMRP 0 0 2 1 9 0 12
SCN3A 0 0 3 2 7 0 12
SGCD 0 0 3 4 5 0 12
SLC19A2 0 0 4 2 6 0 12
VAV1 0 0 1 2 9 0 12
ABCD1 1 1 4 2 3 0 11
AMN 0 0 2 3 6 0 11
ANK1, LOC126860369 3 0 4 3 1 0 11
ATRX 0 0 4 3 4 0 11
BMP1 0 0 4 5 2 0 11
BRAT1 0 0 1 5 5 0 11
CANT1 0 0 6 2 3 0 11
CCDC39 1 0 2 3 5 0 11
CCT5 0 0 3 5 3 0 11
CDKN2A 0 1 2 5 3 0 11
DNAAF2 0 1 3 2 5 0 11
DNAAF3 0 0 2 6 3 0 11
DOLK 0 0 6 4 1 0 11
EHMT1 0 0 1 5 5 0 11
EIF2AK3 0 0 6 3 2 0 11
FANCF 1 0 1 3 6 0 11
HRAS, LRRC56 3 0 2 0 6 0 11
IKZF1 0 0 1 3 7 0 11
KCNE1 0 1 3 4 3 0 11
LOC107303340, VHL 7 1 2 1 0 0 11
NFKB1 0 0 2 3 6 0 11
ODAD3 0 1 1 4 5 0 11
PDX1 0 0 2 6 3 0 11
PEX7 1 1 3 2 4 0 11
PFKL 0 0 7 0 4 0 11
PHKA2 0 0 2 2 7 0 11
PIGQ 0 0 3 6 2 0 11
PKD1, TSC2 0 0 0 2 9 0 11
PNKP 0 1 3 6 1 0 11
RASA2 0 0 3 3 5 0 11
RNF168 0 0 4 2 5 0 11
SHOC2 1 0 2 2 6 0 11
SRP72 0 0 0 3 8 0 11
ZBTB24 0 1 4 1 5 0 11
ABCD4 0 0 1 1 8 0 10
ADA2 2 1 1 5 1 0 10
CDON 0 0 0 1 9 0 10
CNTNAP2 0 0 2 3 5 0 10
COL9A3 0 1 0 3 6 0 10
DEAF1 0 0 5 5 0 0 10
DNAAF11 0 1 3 1 5 0 10
DNAI1 0 2 2 4 2 0 10
EGFR 0 0 1 3 6 0 10
ESPN 0 0 2 1 7 0 10
FANCL 0 0 1 2 7 0 10
G6PC1 3 0 3 3 1 0 10
GAREM2, HADHA 1 0 3 2 4 0 10
GFI1 0 0 0 2 8 0 10
GLA, RPL36A-HNRNPH2 1 0 3 1 5 0 10
GLI3 0 0 1 1 8 0 10
GYS1 0 0 1 5 4 0 10
HSD17B4 1 0 2 2 5 0 10
HSPB1 2 2 1 2 3 0 10
INPPL1 0 0 7 1 2 0 10
KAT6B 0 1 5 1 3 0 10
LOC126861898, MYH7 4 1 1 3 1 0 10
NRL, PCK2 0 0 6 0 4 0 10
NSD1 1 0 0 3 6 0 10
PRKCD 0 0 4 4 2 0 10
PRNP 1 0 1 3 5 0 10
PSEN1 3 2 3 0 2 0 10
PSEN2 0 0 1 2 7 0 10
QARS1 0 0 5 3 2 0 10
SHOX 2 0 2 1 5 0 10
SLC5A7 0 0 4 3 3 0 10
SMARCB1 0 0 1 5 4 0 10
SNRNP200 0 1 2 4 3 0 10
SUFU 0 0 5 3 2 0 10
SYNJ1 0 0 5 2 3 0 10
TMPRSS3 0 0 3 1 6 0 10
TRMU 0 0 1 0 9 0 10
TULP1 0 0 4 2 4 0 10
ACSF3 1 0 4 0 4 0 9
ACTC1, GJD2-DT 1 0 1 5 2 0 9
ACTG1 0 0 1 2 6 0 9
AIPL1 0 0 0 2 7 0 9
ALG1 2 0 0 2 5 0 9
ANK1, LOC124153154 0 1 2 2 4 0 9
AOPEP, FANCC 0 0 1 3 5 0 9
ATL1 0 0 2 3 4 0 9
BLK 0 0 1 2 6 0 9
CAD 0 0 3 2 4 0 9
CDAN1, LOC130056931 0 0 2 2 5 0 9
CDHR1 0 0 5 0 4 0 9
CHD2 0 0 2 2 5 0 9
CLN6 0 0 2 3 4 0 9
CREB3L1 0 0 1 6 2 0 9
DRC1 0 1 3 2 3 0 9
ENO3 0 0 2 2 5 0 9
ETFA 0 1 3 2 3 0 9
EVC2, LOC126806961 1 0 1 2 5 0 9
FLNA, LOC107988032 0 0 5 2 2 0 9
GDF5 0 0 3 6 0 0 9
HBB, LOC106099062, LOC107133510, LOC110006319 2 1 5 1 0 0 9
HBG1, LOC106099064 0 0 3 5 1 0 9
HBG2, LOC106099065 1 2 0 5 1 0 9
HELLS 0 0 2 3 4 0 9
LAMP2 0 0 0 1 8 0 9
LINC00630, RAB40AL 0 0 0 2 7 0 9
LOC102724058, SCN1A 0 0 1 3 5 0 9
LOC126806425, TTN 0 0 4 2 3 0 9
LOC126861896, MYH6 0 0 4 2 3 0 9
MHRT, MYH7 0 0 0 3 6 0 9
PCCA 0 1 2 1 5 0 9
PIK3CG 0 0 5 2 2 0 9
RUNX1 1 3 1 1 3 0 9
SMARCAL1 0 0 1 3 5 0 9
TBC1D24 1 0 0 6 2 0 9
TPM1 0 1 2 6 0 0 9
YARS1 0 0 3 4 2 0 9
ZMYND10 0 0 1 7 1 0 9
ACADS 1 1 0 2 4 0 8
AIFM1, RAB33A 0 0 3 1 4 0 8
ALAS2 1 1 1 2 3 0 8
ANKRD1 0 0 2 3 3 0 8
BEST1 0 0 0 1 7 0 8
CASR 0 0 3 2 3 0 8
CCBE1 0 0 2 3 3 0 8
CD40 1 0 0 1 6 0 8
CDKN1B 0 1 1 2 4 0 8
CFTR, LOC111674463 0 0 2 4 2 0 8
CHRNA4 0 0 3 3 2 0 8
COL10A1, NT5DC1 0 0 1 4 3 0 8
DBT 0 0 0 1 7 0 8
DNAJB2 0 0 3 4 1 0 8
EMD 1 0 1 2 4 0 8
ETFDH 0 1 2 0 5 0 8
FANCG 0 0 0 4 4 0 8
FANCM 0 0 0 0 8 0 8
GDAP1 2 1 4 1 0 0 8
GJB3 0 0 2 2 4 0 8
GRIN2A 0 1 2 1 4 0 8
HNF1B 0 0 2 2 4 0 8
INO80 0 0 2 3 3 0 8
LOC126806424, TTN 0 0 4 2 2 0 8
LRPPRC 0 0 2 1 5 0 8
MASP1 0 0 2 2 4 0 8
MDH2 0 0 3 2 3 0 8
MFAP5 0 0 4 2 2 0 8
MLYCD 0 0 2 4 2 0 8
MYL2 1 0 2 2 3 0 8
MYOT, PKD2L2-DT 0 0 1 3 4 0 8
NEFL 0 0 3 2 3 0 8
NGF 0 0 2 4 2 0 8
NME8 0 0 5 2 1 0 8
NR2E3 1 1 1 1 4 0 8
OPHN1 0 0 2 3 3 0 8
OXCT1 0 0 0 3 5 0 8
PCCB 2 0 3 2 1 0 8
PEX1 2 1 0 3 2 0 8
PIGG 1 0 2 3 2 0 8
PIGN 0 0 4 0 4 0 8
PLEKHG3, SPTB 0 0 2 4 2 0 8
PLOD2 0 0 2 3 3 0 8
RAG2 1 0 3 1 3 0 8
RIT1 3 0 2 1 2 0 8
RPS19 1 0 0 0 7 0 8
RPS24 0 0 1 1 6 0 8
RSPH1 1 0 0 5 2 0 8
SCARB2 0 0 4 3 1 0 8
SCN3B 0 0 5 1 2 0 8
SGCA 0 0 4 2 2 0 8
SGCG 1 0 3 1 3 0 8
SHH 0 1 0 1 6 0 8
SMAD2 0 0 0 5 3 0 8
SPG7 2 1 0 0 5 0 8
SUCLG1 0 0 7 0 1 0 8
TPRN 0 0 3 0 5 0 8
VHL 2 0 3 0 3 0 8
ALG13 0 0 1 2 4 0 7
ANK2, LOC126807137 0 0 1 1 5 0 7
APPL1 0 0 2 2 3 0 7
APTX 0 0 2 2 3 0 7
ATN1 0 0 0 2 5 0 7
CBLIF 2 1 2 1 1 0 7
CD40LG 1 0 3 2 1 0 7
CEACAM16 0 0 4 1 2 0 7
CXCR4 1 0 3 1 2 0 7
DKC1 0 0 0 2 5 0 7
DNM1L 0 1 2 1 3 0 7
DOCK7 0 0 0 2 5 0 7
DRC4 0 0 2 3 2 0 7
EBP 0 0 2 3 2 0 7
EYA4 0 0 1 2 4 0 7
FANCB 0 0 0 1 6 0 7
FANCE 0 0 0 1 6 0 7
FBN2, LOC126807501 0 0 2 3 2 0 7
GABRD 0 0 1 2 4 0 7
GALC 1 0 1 4 1 0 7
GBE1 1 1 0 2 3 0 7
GJC2 0 0 4 1 2 0 7
GNB4 0 0 1 4 2 0 7
GYS2 0 0 0 1 6 0 7
HBG1 0 0 0 2 5 0 7
HCN1 0 0 1 1 5 0 7
HMGCS2 0 0 3 1 3 0 7
HSPB8 0 0 3 2 2 0 7
HSPG2, LOC126805655 0 0 3 3 1 0 7
IL21R 0 0 0 6 1 0 7
INS, INS-IGF2 1 0 1 3 2 0 7
KANSL1 0 0 1 5 1 0 7
LOC100507346, PTCH1 0 0 2 1 4 0 7
LOC109611589, RUNX2 0 0 1 3 3 0 7
LOC112577486, PLOD1 0 0 2 2 3 0 7
LOC126806423, TTN 0 1 1 3 2 0 7
LOC126806431, TTN 0 0 2 3 2 0 7
LOC126806432, TTN 0 0 1 3 3 0 7
LOC129992813, PKD2 2 0 0 1 4 0 7
MAP3K14 0 0 0 2 5 0 7
MBD5 0 0 2 3 2 0 7
MMADHC 0 0 1 1 5 0 7
MPL 1 1 0 1 4 0 7
NEDD4L 0 0 0 3 4 0 7
PC 0 0 2 3 2 0 7
PIEZO2 0 0 0 0 7 0 7
PINK1 0 0 3 1 3 0 7
PKD1L1 0 1 1 1 4 0 7
PLCB1 0 0 2 1 4 0 7
PMP22 1 0 1 2 3 0 7
PROM1 0 0 2 2 3 0 7
PSAP 0 0 1 5 1 0 7
REEP1 0 0 3 2 2 0 7
RFX6 0 0 1 3 3 0 7
RSPH3 0 0 0 0 7 0 7
RUNX2 0 0 2 2 3 0 7
SERPINF1 0 0 4 1 2 0 7
SLC25A13 0 0 0 0 7 0 7
SLC25A22 0 1 1 3 2 0 7
SLC35D1 0 0 2 5 0 0 7
SLC37A4 0 0 0 2 5 0 7
SLC3A1 1 0 3 0 3 0 7
TECRL 0 0 3 3 1 0 7
TINF2 0 0 0 0 7 0 7
​intergenic 0 0 1 3 2 0 6
ADGRG1 0 0 4 2 0 0 6
AKT1 0 0 1 1 4 0 6
ALG6 0 0 2 2 2 0 6
ALG8 1 0 2 2 1 0 6
ANK1, LOC126860368 1 0 0 4 1 0 6
AP3B2, CPEB1 0 0 1 3 2 0 6
ASAH1 0 0 3 3 0 0 6
CA4 0 0 3 2 1 0 6
CALM3 0 0 0 2 4 0 6
CASK 0 0 2 2 2 0 6
CAV1 0 0 1 2 3 0 6
CCN6 0 0 0 4 2 0 6
CDCA7 0 0 1 3 2 0 6
CFAP298, CFAP298-TCP10L 0 0 2 3 1 0 6
CLN3 0 0 1 3 2 0 6
COCH 0 0 3 2 1 0 6
COL1A1, LOC126862586 3 0 0 2 1 0 6
COL9A2 0 0 0 3 3 0 6
COQ8A 0 0 4 0 2 0 6
DCHS1 0 0 6 0 0 0 6
DLL3, LOC130064417 0 0 0 2 4 0 6
DRC2 0 0 1 2 3 0 6
EEF1A2 0 0 0 1 5 0 6
ETFB 0 0 2 2 2 0 6
FANCA, ZNF276 0 0 0 1 5 0 6
FANCD2, FANCD2OS 0 0 1 0 5 0 6
FARS2, LOC126859565 0 1 1 1 3 0 6
FBN1, LOC113939944 2 1 1 1 1 0 6
FOXC2 0 1 1 0 4 0 6
GAMT 0 1 0 1 4 0 6
GFAP 1 0 1 0 4 0 6
GFM1 0 0 1 2 3 0 6
GPSM2 1 0 2 1 2 0 6
GYG1 0 0 1 2 3 0 6
HADHB 0 0 0 2 4 0 6
ICOS 0 0 0 2 4 0 6
IQSEC2 0 0 2 1 3 0 6
KCNK3 0 0 2 3 1 0 6
KCNQ3 0 0 2 1 3 0 6
LOC108021846, SOX9 3 1 0 0 2 0 6
LOC110011216, PHOX2B 0 0 0 3 3 0 6
LOC126806420, TTN 0 0 2 2 2 0 6
LOC126806421, TTN 0 0 3 0 3 0 6
LOC126806430, TTN 0 0 1 1 4 0 6
LOC130067574, TNFRSF13C 0 0 0 4 2 0 6
MMACHC 3 0 0 1 2 0 6
NEXMIF 0 0 0 3 3 0 6
NF2 0 0 1 4 1 0 6
NFKBIA 0 0 0 2 4 0 6
NTHL1 0 0 3 2 1 0 6
PGM1 0 0 0 0 6 0 6
POLG, POLGARF 0 0 1 2 3 0 6
PPIB, SNX22 0 1 2 2 1 0 6
PRKDC 0 0 3 1 2 0 6
RARS2 0 2 2 0 2 0 6
RD3 0 0 2 0 4 0 6
RHO 2 1 1 1 1 0 6
RPGR 1 0 0 0 5 0 6
RSPH4A 0 0 2 2 2 0 6
SAG 0 0 3 1 2 0 6
SBDS 1 0 0 0 5 0 6
SCN2A 0 1 2 1 2 0 6
SCN9A 0 0 4 2 0 0 6
SIX3 1 0 0 0 5 0 6
SLC13A5 0 0 1 3 2 0 6
SLC19A3 0 0 0 4 2 0 6
SLC25A4 0 1 0 2 3 0 6
SLC52A3 0 0 0 1 5 0 6
STRC 0 3 3 0 0 0 6
SUOX 0 1 2 2 1 0 6
TDP1 0 0 5 1 0 0 6
TGIF1 0 0 3 0 3 0 6
TSEN54 0 0 1 5 0 0 6
UNG 0 0 3 2 1 0 6
VCAN 0 0 3 1 2 0 6
WT1 0 0 2 3 1 0 6
ZEB2 0 0 1 2 3 0 6
ZIC2 1 0 1 0 4 0 6
ABAT 0 0 2 1 2 0 5
ACAD9 1 0 0 0 4 0 5
ACADVL, LOC130060113 0 0 1 2 2 0 5
AGPS, LOC129935172 0 0 2 2 1 0 5
AHCY 0 0 1 3 1 0 5
AICDA 1 0 0 1 3 0 5
ALDH7A1 1 0 0 2 2 0 5
ALS2 0 0 1 1 3 0 5
AMT 0 0 3 1 1 0 5
ATP1A1 0 0 1 1 3 0 5
ATPAF2 0 0 2 1 2 0 5
BCKDHA 0 0 0 0 5 0 5
BLNK 0 0 0 1 4 0 5
C10orf105, CDH23 0 0 1 1 3 0 5
CAV3, OXTR 0 0 0 1 4 0 5
CD79A 0 0 3 2 0 0 5
CDCA7L, DNAH11 0 0 1 3 1 0 5
CHRNB2 0 0 1 2 2 0 5
COL6A2 0 0 5 0 0 0 5
CORIN 0 0 4 1 0 0 5
CR2, LOC126805994 0 0 3 1 1 0 5
CYP27B1 0 0 3 1 1 0 5
DLD 0 0 1 0 4 0 5
DNAAF4, DNAAF4-CCPG1 0 1 0 2 2 0 5
DNMT1, LOC126862853 0 0 0 2 3 0 5
DYM 1 0 0 2 2 0 5
EPHB4, SLC12A9 0 0 1 1 3 0 5
ESRRB 0 0 2 1 2 0 5
FANCA, LOC112486223 1 0 1 0 3 0 5
FOXH1 0 0 1 1 3 0 5
GCLC, LOC129996649 0 0 0 1 4 0 5
GRIA3 0 0 0 1 4 0 5
HADH 0 0 1 3 1 0 5
HADHA 0 0 1 1 3 0 5
HAX1 0 0 2 1 2 0 5
HBA-LCR, NPRL3 0 1 0 3 1 0 5
IGH, IGHM 0 0 0 1 4 0 5
KCNE2, LOC105372791 0 0 3 1 1 0 5
KDM6A 0 0 0 3 2 0 5
KIF1A, LOC126806583 0 0 1 3 1 0 5
LOC105369149, SBF2 0 0 2 3 0 0 5
LOC107982234, WT1 0 0 1 1 3 0 5
LOC126806426, TTN 0 0 2 0 3 0 5
LOC126806428, TTN 0 0 2 1 2 0 5
LOC126862019, TDP1 0 0 4 0 1 0 5
MCIDAS 0 0 2 2 1 0 5
MITF 1 0 1 2 1 0 5
MYL3 0 0 2 3 0 0 5
NHP2 0 0 0 3 2 0 5
NKIRAS1, RPL15 0 0 0 0 5 0 5
OPA1 1 0 2 0 2 0 5
OTOA 0 0 1 0 4 0 5
PARN 0 0 1 3 1 0 5
PAX4 0 0 0 2 3 0 5
PIGO 0 1 2 1 1 0 5
PIK3CA 1 0 1 0 3 0 5
PMM2 3 2 0 0 0 0 5
PRICKLE2 0 0 2 2 1 0 5
PRPF31 0 0 2 0 3 0 5
RBCK1 0 0 2 2 1 0 5
RFT1 0 0 2 3 0 0 5
RLBP1 1 1 1 1 1 0 5
SCN1A 0 0 1 0 4 0 5
SCN8A 0 1 0 3 1 0 5
SERPINI1 0 0 0 2 3 0 5
SLC16A1 0 0 1 2 2 0 5
SLC2A1 0 0 1 2 2 0 5
SLC6A1 1 0 0 1 3 0 5
SLC9A6 0 0 0 0 5 0 5
SNHG14, UBE3A 0 1 2 0 2 0 5
SPAG1 0 0 1 2 2 0 5
STXBP1 0 0 0 3 2 0 5
TCAP 0 0 2 2 1 0 5
TCIRG1 1 0 2 1 1 0 5
TCN1 0 0 1 2 2 0 5
TMPO 0 0 0 1 4 0 5
TPP1 0 0 1 3 1 0 5
USH1G 0 0 3 1 1 0 5
VPS45 0 0 2 0 3 0 5
WAS 0 0 1 2 2 0 5
WWOX 0 0 2 3 0 0 5
ABCC9, KCNJ8 0 0 1 2 1 0 4
ADK 0 0 0 2 2 0 4
ALG9 0 0 1 0 3 0 4
ATP1A3 0 0 1 2 1 0 4
BLNK, ZNF518A 0 0 3 1 0 0 4
CACNA2D2 0 0 1 1 2 0 4
CALM2 0 0 0 2 2 0 4
CARS2 0 0 1 2 1 0 4
CCDC39, TTC14 0 0 0 1 3 0 4
CD320 0 0 2 0 2 0 4
CLCN4 0 0 1 0 3 0 4
CLCN5 0 0 0 1 3 0 4
CLTC 0 1 1 1 1 0 4
COQ9 0 0 0 1 3 0 4
CRX 0 0 0 1 3 0 4
CTSF 0 0 0 0 4 0 4
CUL4B 0 0 0 0 4 0 4
DIPK1A, RPL5 1 0 0 1 2 0 4
DLAT 0 0 1 0 3 0 4
ECHS1 0 0 1 0 3 0 4
EDARADD 0 0 0 0 4 0 4
EIF2AK4, LOC130056813 0 1 0 1 2 0 4
FANCC 0 0 0 1 3 0 4
FOXP3 0 0 0 1 3 0 4
FSCN2 0 0 0 2 2 0 4
FXN, LOC130001862 0 0 2 0 2 0 4
GATA1 0 2 1 1 0 0 4
GORAB 0 0 0 1 3 0 4
GPD1L 0 0 1 2 1 0 4
HACE1 0 0 2 2 0 0 4
HECW2 0 0 1 0 3 0 4
HOXA11, LOC107126281 0 0 3 1 0 0 4
HSALR1, LOC130059751, PIEZO1 0 0 2 0 2 0 4
HSPB3 0 0 3 0 1 0 4
IKBKG 0 0 1 1 2 0 4
IMPDH1 0 0 4 0 0 0 4
IRF2BP2 0 0 1 1 2 0 4
KCNB1 0 0 0 1 3 0 4
KCNC1 0 0 0 1 3 0 4
KCNH1 0 0 1 3 0 0 4
KCNQ1, KCNQ1OT1 0 0 0 1 3 0 4
KDM4B 0 1 3 0 0 0 4
KDM5C 0 1 1 0 2 0 4
LAS1L 0 0 2 2 0 0 4
LCA5 0 0 4 0 0 0 4
LMNA, LOC126805877 0 0 1 1 2 0 4
LOC110806306, TERC 0 0 2 0 2 0 4
LOC126806068, RYR2 0 0 2 1 1 0 4
LOC126859807, TNFAIP3 0 0 1 2 1 0 4
LOC126860794, NOTCH1 0 0 0 2 2 0 4
LOC126861897, MHRT, MYH7 0 0 1 0 3 0 4
LOC129935183, TTN 0 0 1 0 3 0 4
MAT1A 0 0 2 0 2 0 4
MCEE 0 0 0 2 2 0 4
MED13L 0 2 2 0 0 0 4
MEF2C 0 1 0 2 1 0 4
MMAA 0 0 1 1 2 0 4
MPDU1 0 0 2 2 0 0 4
MT-CO3 0 0 4 0 0 0 4
MYBPC1 0 0 1 0 3 0 4
MYH3 1 0 0 0 3 0 4
NDUFS1 0 0 0 1 3 0 4
NDUFV2 0 0 1 0 3 0 4
NEUROD1 0 0 3 0 1 0 4
NPC1 0 0 1 1 2 0 4
NRAS 0 0 1 3 0 0 4
P4HB 0 0 2 1 1 0 4
PDCD10 2 0 0 1 1 0 4
PDHX 0 0 0 0 4 0 4
PDK3 0 0 2 1 1 0 4
PEX12 0 0 0 1 3 0 4
PHKA1 0 1 1 1 1 0 4
PHOX2B 0 0 1 1 2 0 4
PIGA 0 0 3 1 0 0 4
PKHD1 4 0 0 0 0 0 4
PLPBP 0 0 0 2 2 0 4
PLS3 0 0 0 2 2 0 4
POT1 0 0 0 2 2 0 4
POU3F4 0 0 0 1 3 0 4
PPIB 0 0 1 1 2 0 4
PRKAR1A 0 0 1 0 3 0 4
RAC2 0 0 0 2 2 0 4
RP9 0 0 0 0 4 0 4
RPE65 1 0 0 1 2 0 4
SLC12A5 0 0 0 0 4 0 4
SLC26A5 0 0 2 1 1 0 4
SLC2A2 0 0 1 1 2 0 4
SLC35A2 0 0 1 2 1 0 4
SLC52A1 0 0 2 0 2 0 4
SMARCE1 0 0 2 2 0 0 4
SMC1A 0 0 0 0 4 0 4
STAT3 0 0 0 1 3 0 4
TBX4 0 1 1 0 2 0 4
TMC1 2 0 1 0 1 0 4
TMEM127 0 0 2 0 2 0 4
TMEM38B 0 0 1 2 1 0 4
TNNC1 0 0 1 3 0 0 4
TOPORS 0 0 2 0 2 0 4
TRNT1 0 0 2 1 1 0 4
TWNK 0 0 1 1 2 0 4
USB1 0 0 1 0 3 0 4
XIAP 0 0 1 1 2 0 4
ABCB7 0 0 0 0 3 0 3
ACAD9, CFAP92 0 0 2 0 1 0 3
ACADL 0 0 1 0 2 0 3
ACADVL, DLG4 0 1 0 0 2 0 3
ACSF3, LOC125177393 0 0 2 1 0 0 3
ADA, LOC107303343 0 0 0 1 2 0 3
AFF4 0 1 2 0 0 0 3
ALDOB 1 0 0 2 0 0 3
AMACR, C1QTNF3-AMACR 0 0 1 1 1 0 3
ANKRD26, LOC130003554 0 0 1 1 1 0 3
ANKS6 0 0 0 0 3 0 3
APOB, LOC106560211 0 0 0 2 1 0 3
APPL1, ASB14 0 0 2 0 1 0 3
BLK, LOC126860303 0 0 0 0 3 0 3
BPGM 0 0 2 1 0 0 3
C6 0 1 2 0 0 0 3
CACNA1H 0 0 3 0 0 0 3
CACNA2D2, LOC127898564 0 0 1 1 1 0 3
CAD, LOC126806171 0 0 0 3 0 0 3
CC2D1A 0 0 3 0 0 0 3
CD81 0 0 0 2 1 0 3
CDK13 2 0 1 0 0 0 3
CDKL5, RS1 0 0 0 0 3 0 3
CDKN2A, LOC130001603 1 0 0 0 2 0 3
CEP85L, PLN 0 0 0 2 1 0 3
CERKL 0 0 1 0 2 0 3
CHRNA4, LOC100130587 0 0 0 0 3 0 3
CLN8 0 0 0 3 0 0 3
CNGA1, LOC101927157 0 0 0 2 1 0 3
CNKSR2 0 0 0 1 2 0 3
COQ2 0 0 1 1 1 0 3
COX10 0 0 1 0 2 0 3
COX15 0 0 0 0 3 0 3
CRYAB 0 0 0 2 1 0 3
DARS2 0 0 0 0 3 0 3
DGUOK 0 0 1 0 2 0 3
DNAL1 0 0 2 0 1 0 3
DSC2, DSCAS 0 0 1 2 0 0 3
DSG2, LOC130062340 0 0 1 1 1 0 3
EDA 1 1 0 0 1 0 3
ELMO2 0 0 0 1 2 0 3
EP300 1 0 2 0 0 0 3
ETV6, LOC126861452 0 0 0 2 1 0 3
EYA4, TARID 0 0 1 1 1 0 3
FANCD2 0 0 0 0 3 0 3
FARS2 0 1 1 1 0 0 3
FASTKD2 0 0 0 1 2 0 3
FBN1, LOC126862124 0 0 1 2 0 0 3
FBN1, LOC130057019 0 0 0 2 1 0 3
FGF8 0 0 0 1 2 0 3
G6PC3 0 0 0 1 2 0 3
GABBR2 0 0 1 0 2 0 3
GABRB2 0 0 1 0 2 0 3
GALT, LOC130001683 0 2 1 0 0 0 3
GATAD1, PEX1 0 0 2 1 0 0 3
GATM 0 0 0 1 2 0 3
GLDC 0 0 3 0 0 0 3
GP1BA 1 0 0 1 1 0 3
GSDME 0 1 1 0 1 0 3
HBA1, HBA2, LOC106804612 1 0 1 1 0 0 3
HBG2 0 0 3 0 0 0 3
HINT1 0 0 1 1 1 0 3
IFITM5 0 0 0 1 2 0 3
IGHMBP2, LOC126861245 0 0 1 1 1 0 3
IL21R, LOC130058713 0 0 0 3 0 0 3
ILK, TAF10 0 0 2 1 0 0 3
IMPG2 0 0 2 1 0 0 3
IVD 0 0 0 2 1 0 3
KCNJ10 0 0 1 2 0 0 3
KCNQ4 0 0 0 1 2 0 3
KIZ 0 0 0 1 2 0 3
KLLN, LOC130004273, PTEN 0 0 0 0 3 0 3
KMT2D, LOC126861520 0 0 0 1 2 0 3
KMT2E 0 1 2 0 0 0 3
LDB3, LOC110121486 0 0 1 0 2 0 3
LIG4 2 0 0 0 1 0 3
LMBRD1 0 0 1 0 2 0 3
LOC111811965, MIR4733HG, NF1 0 0 2 1 0 0 3
LOC114827850, MYL2 0 0 2 0 1 0 3
LOC126806429, TTN 0 0 0 0 3 0 3
LOC126806433, TTN 0 0 0 2 1 0 3
LOC126860438, NBN 0 0 0 2 1 0 3
LOC127407129, RFX6 0 0 0 2 1 0 3
LOC129992625, SRP72 0 0 0 0 3 0 3
LOC129993734, RETREG1 0 0 2 0 1 0 3
LOC130003020, NOTCH1 0 0 0 3 0 0 3
LOC130009266, POLE 0 0 0 2 1 0 3
LOC130062899, STK11 0 0 2 0 1 0 3
LOC130067862, SCO2, TYMP 0 0 0 0 3 0 3
MALT1 0 0 0 0 3 0 3
MED17 0 0 0 1 2 0 3
MILR1, POLG2 0 0 1 0 2 0 3
MMAB 0 0 2 1 0 0 3
MOCS2 0 0 2 0 1 0 3
MRPS22 0 0 0 1 2 0 3
MS4A1 0 0 1 0 2 0 3
MT-ATP6 0 0 3 0 0 0 3
MT-CO2 0 0 3 0 0 0 3
MT-ND1 2 0 1 0 0 0 3
MT-ND4 1 0 2 0 0 0 3
MT-ND5 0 0 3 0 0 0 3
MYH10 0 0 1 2 0 0 3
MYO1A 0 0 0 0 3 0 3
MYOZ2 0 0 0 1 2 0 3
NDUFS3 0 0 0 1 2 0 3
NEUROG3 0 0 3 0 0 0 3
NODAL 0 0 1 0 2 0 3
NTRK2 0 0 0 0 3 0 3
PARD3B 0 0 3 0 0 0 3
PARP9 0 0 3 0 0 0 3
PCDH19 0 0 0 1 2 0 3
PHF6 0 0 0 0 3 0 3
PHGDH 0 0 3 0 0 0 3
PIGT 0 0 1 1 1 0 3
PJVK 0 0 1 0 2 0 3
PTCHD1 0 0 1 0 2 0 3
PUS1 0 0 1 2 0 0 3
RAB7A 0 0 0 1 2 0 3
RNASEH2B 0 1 0 0 2 0 3
RORB 0 0 0 2 1 0 3
RPL11 0 0 0 0 3 0 3
RPS10, RPS10-NUDT3 0 1 0 0 2 0 3
RPS7 0 0 1 1 1 0 3
RYR3 0 0 3 0 0 0 3
SGCB 0 0 3 0 0 0 3
SLC25A12 0 0 0 2 1 0 3
SLC25A19 0 0 2 0 1 0 3
SLC6A8 0 0 1 0 2 0 3
SMPD1 0 0 2 0 1 0 3
SP7 0 0 0 2 1 0 3
SUCLA2 0 0 0 0 3 0 3
SURF1 0 0 1 0 2 0 3
TAFAZZIN 1 0 0 0 2 0 3
TBL1XR1 0 0 0 1 2 0 3
TCF4 0 0 0 2 1 0 3
TNNI2 0 0 1 0 2 0 3
TTC8 0 0 1 1 1 0 3
VEGFC 0 0 0 0 3 0 3
ABCA2 0 0 2 0 0 0 2
ABCA4, LOC126805793 0 0 1 0 1 0 2
ABCC8, LOC110121471 0 0 0 0 2 0 2
ABCD3 0 0 0 1 1 0 2
ACACB 0 0 2 0 0 0 2
ACOX3 0 0 2 0 0 0 2
AFF2 0 0 2 0 0 0 2
AGXT 1 0 0 0 1 0 2
AHI1 0 0 2 0 0 0 2
ALDH5A1 1 0 0 1 0 0 2
ALG1, LOC130058383 0 0 1 1 0 0 2
AMN, LOC130056554 0 0 1 1 0 0 2
ANK1, LOC130000286 0 0 0 1 1 0 2
ANK2, LOC126807136 0 0 0 2 0 0 2
APBB2 0 0 2 0 0 0 2
APC2 0 0 2 0 0 0 2
ARFGEF1 0 0 2 0 0 0 2
ARID1B 2 0 0 0 0 0 2
ARV1 0 0 1 0 1 0 2
ARX 0 0 2 0 0 0 2
ATP6AP1 0 0 0 1 1 0 2
ATP6V0A1 0 1 1 0 0 0 2
ATP7B, LOC130009838 0 0 0 0 2 0 2
ATP8A2 0 0 1 1 0 0 2
BCAR3 0 0 2 0 0 0 2
BCHE 1 1 0 0 0 0 2
BCKDK 0 0 0 2 0 0 2
BMP1, LOC113788269 0 0 0 1 1 0 2
BPTF 1 0 1 0 0 0 2
BRAF, LOC126860202 0 0 0 1 1 0 2
C12orf57 0 0 2 0 0 0 2
CACNA1A, LOC108663985 0 0 0 0 2 0 2
CACNA2D2, LOC101928965, LOC127898564 0 0 0 2 0 0 2
CARD14 0 0 1 1 0 0 2
CAV3 0 0 1 0 1 0 2
CAVIN1 0 0 2 0 0 0 2
CCDC50 0 0 1 1 0 0 2
CCNO 0 0 1 1 0 0 2
CD27 0 0 1 0 1 0 2
CDC73 0 0 0 1 1 0 2
CDK5RAP2 1 0 1 0 0 0 2
CEBPA, LOC130064183 0 0 0 1 1 0 2
CFAP418 0 0 0 0 2 0 2
CFAP53 0 0 1 0 1 0 2
CFTR, LOC113633877 1 0 0 0 1 0 2
CFTR, LOC113664106 2 0 0 0 0 0 2
CHD7, LOC126860403 2 0 0 0 0 0 2
CHD8 1 0 1 0 0 0 2
CHKA 0 0 2 0 0 0 2
CHM 0 0 0 0 2 0 2
CLDN14 0 0 1 0 1 0 2
CLN5 0 0 0 2 0 0 2
CLRN1 1 0 1 0 0 0 2
CNTNAP2, LOC126860216 0 0 0 1 1 0 2
COA3 0 0 2 0 0 0 2
COL12A1 1 0 1 0 0 0 2
COL4A2 0 0 2 0 0 0 2
COL6A1 0 0 1 1 0 0 2
COL9A3, LOC126863084 0 0 0 2 0 0 2
COQ2, LOC112997540 0 0 0 0 2 0 2
COX4I2 0 0 0 1 1 0 2
CPT2, LOC129930561 1 0 1 0 0 0 2
CR1 0 0 2 0 0 0 2
CRELD1 0 0 1 0 1 0 2
CRTAP, LOC129936436 0 0 2 0 0 0 2
CTCF 0 1 1 0 0 0 2
CTLA4 0 1 0 0 1 0 2
CTNS 0 0 2 0 0 0 2
CTSD 0 0 0 1 1 0 2
CTU2 0 0 2 0 0 0 2
CUX1 0 1 1 0 0 0 2
CYBB 2 0 0 0 0 0 2
DBNL, LOC129998342, PGAM2 0 0 0 2 0 0 2
DNAH11, LOC126859961 0 0 1 1 0 0 2
DPM1 0 0 1 0 1 0 2
DPM1, LOC130066166 0 0 1 0 1 0 2
DYRK1A 0 0 0 0 2 0 2
ECEL1 1 1 0 0 0 0 2
ECHS1, LOC130005023 1 0 1 0 0 0 2
EDAR, RANBP2 0 0 1 0 1 0 2
EFHC1 0 0 2 0 0 0 2
EHBP1L1 0 0 2 0 0 0 2
EPM2A, EPM2A-DT, LOC129997381 0 0 2 0 0 0 2
ERCC6 1 0 1 0 0 0 2
EYS, PHF3 0 1 0 1 0 0 2
FAM161A 0 0 1 0 1 0 2
FBN3 0 0 2 0 0 0 2
FLAD1 0 0 1 1 0 0 2
FLNB, LOC129936935 0 0 0 2 0 0 2
FLNC, LOC129999273 0 0 1 0 1 0 2
FOXG1 0 1 0 0 1 0 2
FOXN1 0 0 1 0 1 0 2
G6PD, IKBKG, LOC107181288, LOC129929052 0 0 0 2 0 0 2
GABRB3 0 0 0 0 2 0 2
GABRG2 0 0 0 0 2 0 2
GANC 0 0 2 0 0 0 2
GATAD1 0 0 0 1 1 0 2
GBA1 0 1 0 0 1 0 2
GH-LCR, SCN4A 0 0 2 0 0 0 2
GLRA1 0 0 2 0 0 0 2
GOSR2, LRRC37A2 0 0 0 1 1 0 2
GPHN 0 0 1 1 0 0 2
GRHL2 0 0 0 0 2 0 2
GRIN1 0 0 0 2 0 0 2
HARS1, LOC129994848 0 0 1 0 1 0 2
HECTD4 0 0 2 0 0 0 2
HHIPL1 0 0 2 0 0 0 2
HOXB13 0 1 0 0 1 0 2
HPS1 2 0 0 0 0 0 2
HSPD1 0 0 0 0 2 0 2
HUWE1 0 0 2 0 0 0 2
IDUA 0 0 0 1 1 0 2
IRF2BP2, LOC129932812 0 0 0 0 2 0 2
KARS1, LOC126862402 0 0 0 2 0 0 2
KCNA1 0 0 0 1 1 0 2
KCNA2 0 0 0 1 1 0 2
KCND2 0 1 1 0 0 0 2
KCNE3 0 0 1 0 1 0 2
KCP 0 0 2 0 0 0 2
KDM5B 0 1 1 0 0 0 2
KIAA0753 2 0 0 0 0 0 2
KIAA1217 0 0 2 0 0 0 2
KIDINS220 0 1 1 0 0 0 2
KLLN, PTEN 0 0 1 1 0 0 2
KMT2B 0 0 2 0 0 0 2
L1CAM 1 0 1 0 0 0 2
LDLR, MIR6886 1 1 0 0 0 0 2
LGI1 0 0 1 0 1 0 2
LOC105378311, PCDH15 0 0 0 1 1 0 2
LOC122152296, USH2A 0 0 1 0 1 0 2
LOC123956210, SLC26A4 1 0 0 0 1 0 2
LOC126805598, PLEKHG5 0 0 0 1 1 0 2
LOC126806067, RYR2 0 0 1 1 0 0 2
LOC126806791, MYLK 0 0 0 1 1 0 2
LOC126860531, NDRG1 0 0 0 2 0 0 2
LOC126860782, SETX 0 0 0 1 1 0 2
LOC126860891, ODAD2 0 0 1 1 0 0 2
LOC126861339, SDHD 1 0 0 0 1 0 2
LOC126862575, MAP3K14 0 0 1 1 0 0 2
LOC126862902, RYR1 0 0 0 0 2 0 2
LOC126863137, MYH9 0 0 0 0 2 0 2
LOC129930446, MMACHC 1 0 1 0 0 0 2
LOC129931894, SLC19A2 0 0 2 0 0 0 2
LOC129933186, WDR35 0 0 1 0 1 0 2
LOC129933707, MSH6 0 0 0 0 2 0 2
LOC129934128, MOGS 0 0 0 1 1 0 2
LOC129935184, TTN 0 0 1 0 1 0 2
LOC129936736, QARS1 0 0 0 1 1 0 2
LOC129937686, RASA2 0 0 0 0 2 0 2
LOC129992304, QDPR 0 0 2 0 0 0 2
LOC130000832, SPAG1 0 0 1 1 0 0 2
LOC130002223, TGFBR1 0 0 1 1 0 0 2
LOC130004599, NFKB2 0 0 0 1 1 0 2
LOC130009747, SUCLA2 0 0 0 1 1 0 2
LOC130059554, MLYCD 0 0 1 0 1 0 2
LOC130065433, NDUFAF5 0 0 1 0 1 0 2
LOC130065680, SNTA1 0 0 2 0 0 0 2
LONP1 0 0 2 0 0 0 2
LRRC51, LRTOMT 0 0 0 0 2 0 2
LYST 0 0 2 0 0 0 2
MADD 0 0 2 0 0 0 2
MAK 0 0 0 1 1 0 2
MAN2C1 0 0 2 0 0 0 2
MAP2K1, SNAPC5 0 0 0 2 0 0 2
MAX 1 0 0 1 0 0 2
MFSD8 0 0 0 0 2 0 2
MIR6511B1, PKD1 1 0 0 1 0 0 2
MMAB, MVK 0 0 1 0 1 0 2
MPDZ 0 0 2 0 0 0 2
MT-CYB 0 0 2 0 0 0 2
MT-ND2 0 1 1 0 0 0 2
MT-ND3 2 0 0 0 0 0 2
MT-ND6 1 0 1 0 0 0 2
MT-TI 0 0 2 0 0 0 2
MT-TL1 2 0 0 0 0 0 2
MTM1 0 1 1 0 0 0 2
MVP-DT, PRRT2 1 0 0 1 0 0 2
MYH7B 0 0 2 0 0 0 2
MYH8, MYHAS 0 0 1 1 0 0 2
MYO1H 0 0 2 0 0 0 2
MYO9A 0 0 2 0 0 0 2
NALCN 0 0 0 0 2 0 2
NAPRT 0 0 2 0 0 0 2
NCAPH2, SCO2 0 0 1 0 1 0 2
NDE1 0 0 1 1 0 0 2
NDUFAF1 0 0 0 0 2 0 2
NDUFAF2 0 0 0 1 1 0 2
NDUFAF5 0 0 0 1 1 0 2
NDUFS2 0 0 1 0 1 0 2
NEB 0 0 2 0 0 0 2
NHP2, RMND5B 0 0 0 2 0 0 2
NHS 0 0 0 1 1 0 2
NLGN4X 0 0 0 0 2 0 2
NMNAT1 0 0 0 1 1 0 2
NOP10 0 0 0 1 1 0 2
NPAT 0 0 2 0 0 0 2
ODAD3, PRKCSH 0 0 1 0 1 0 2
OR10Z1, SPTA1 0 1 1 0 0 0 2
OR6A2 0 0 2 0 0 0 2
ORC6 0 2 0 0 0 0 2
OTUD6B 0 0 2 0 0 0 2
PACS1 0 0 0 1 1 0 2
PARP4 0 0 2 0 0 0 2
PATJ 0 0 2 0 0 0 2
PDE3B 0 0 2 0 0 0 2
PDZD7 0 0 0 0 2 0 2
PEX14 0 0 0 0 2 0 2
PEX26 0 0 0 1 1 0 2
PHKG2 0 0 0 2 0 0 2
PITRM1 0 0 2 0 0 0 2
PKP3 0 0 2 0 0 0 2
POU4F3, RBM27-POU4F3 0 0 0 1 1 0 2
PPP6R1 0 0 2 0 0 0 2
PRPH2 0 0 0 1 1 0 2
PRPS1 0 0 0 0 2 0 2
PTPRB 0 0 2 0 0 0 2
QDPR 0 0 0 1 1 0 2
RIF1 0 0 2 0 0 0 2
RNASEH2C 0 0 2 0 0 0 2
ROGDI 0 0 0 0 2 0 2
RP2 0 0 1 0 1 0 2
RPS15 0 0 0 0 2 0 2
RPS26 0 0 0 1 1 0 2
RSPH9 0 0 0 0 2 0 2
SAMHD1 1 0 1 0 0 0 2
SCN10A 0 0 2 0 0 0 2
SEMA4A 0 0 0 1 1 0 2
SETD5 0 1 1 0 0 0 2
SHANK2 0 0 2 0 0 0 2
SLC1A2 0 0 0 1 1 0 2
SLC22A31 0 0 2 0 0 0 2
SLC25A15 0 0 1 0 1 0 2
SLC5A6 0 0 2 0 0 0 2
SNAP25 1 0 0 0 1 0 2
SPAG5 0 0 2 0 0 0 2
SPARC 0 0 0 0 2 0 2
SPTBN5 0 0 2 0 0 0 2
SRMS 0 0 2 0 0 0 2
ST3GAL3 0 0 0 0 2 0 2
ST3GAL5 0 0 1 0 1 0 2
STAMBP 0 0 0 1 1 0 2
STARD9 0 0 2 0 0 0 2
STX1B 0 0 0 1 1 0 2
SYCE2 0 0 2 0 0 0 2
SYN1 0 0 0 0 2 0 2
SYNGAP1 0 0 0 0 2 0 2
TANC2 0 0 2 0 0 0 2
TBCK 0 0 2 0 0 0 2
TCF20 0 0 2 0 0 0 2
TLN2 0 0 2 0 0 0 2
TMIE 0 0 1 0 1 0 2
TMPRSS13 0 0 2 0 0 0 2
TRAPPC9 0 0 2 0 0 0 2
TRIO 0 0 2 0 0 0 2
TRRAP 0 0 2 0 0 0 2
TUFM 0 0 0 0 2 0 2
UBE2T 0 0 0 0 2 0 2
UPP1 0 0 2 0 0 0 2
WARS2 0 1 1 0 0 0 2
WNT1 0 1 1 0 0 0 2
ZMYM2 0 1 1 0 0 0 2
A2M, KLRG1 0 0 0 0 1 0 1
A2ML1 0 0 0 0 1 0 1
ABCA3 0 0 0 0 1 0 1
ABCA4, LOC126805794 0 0 0 0 1 0 1
ABCB6 0 0 1 0 0 0 1
ABCC8, KCNJ11 0 0 0 0 1 0 1
ABL1 0 1 0 0 0 0 1
ABLIM3 0 0 1 0 0 0 1
ACACA 0 0 1 0 0 0 1
ACAD11, NPHP3-ACAD11 0 0 0 0 1 0 1
ACADVL, DVL2 1 0 0 0 0 0 1
ACBD5 0 0 1 0 0 0 1
ACO2 0 1 0 0 0 0 1
ACO2, POLR3H 0 0 1 0 0 0 1
ACOT7 0 0 0 0 1 0 1
ACOX2 0 1 0 0 0 0 1
ACTA1 0 1 0 0 0 0 1
ADAMTSL1 0 0 1 0 0 0 1
ADAT3, SCAMP4 0 0 1 0 0 0 1
ADGRL1 0 0 1 0 0 0 1
ADGRV1, LOC129994205 0 0 0 0 1 0 1
AFG2A 0 0 1 0 0 0 1
AFG2B 0 0 1 0 0 0 1
AFG3L2, TUBB6 0 0 1 0 0 0 1
AGA 1 0 0 0 0 0 1
AHNAK2 0 0 1 0 0 0 1
AKAP9, LOC129998788 0 0 0 1 0 0 1
ALAS2, LOC108663984 0 0 0 0 1 0 1
ALAS2, PAGE2B 0 0 0 1 0 0 1
ALDH3A2 1 0 0 0 0 0 1
ALDH5A1, GPLD1, LOC129995978 0 0 0 1 0 0 1
ALG1, EEF2KMT 0 0 0 1 0 0 1
ALG1, LOC130058384 0 0 0 1 0 0 1
ALG11, ATP7B 0 0 0 0 1 0 1
ALG11, ATP7B, LOC130009838 0 0 0 0 1 0 1
ALG11, UTP14C 0 0 1 0 0 0 1
ALG12 1 0 0 0 0 0 1
ALG3 0 0 1 0 0 0 1
ALMS1, LOC126806252 0 0 1 0 0 0 1
ALPK3, LOC111718493 0 0 0 1 0 0 1
ANAPC15, LRTOMT, TOMT 0 0 0 0 1 0 1
ANK3 0 0 1 0 0 0 1
ANKRD18A 0 0 1 0 0 0 1
ANKRD24 0 0 1 0 0 0 1
ANKRD28, BTD 0 0 1 0 0 0 1
ANXA6 0 0 1 0 0 0 1
APC, LOC129994371 0 0 0 0 1 0 1
APOM 0 0 0 0 1 0 1
APPL1, LOC129936926 0 0 0 1 0 0 1
AR, LOC109504725 0 0 0 0 1 0 1
ARCN1 0 1 0 0 0 0 1
AREL1, MLH3 0 0 0 0 1 0 1
ARF1, LOC126806039 0 0 1 0 0 0 1
ARG1, MED23 0 0 1 0 0 0 1
ARHGAP27 0 0 1 0 0 0 1
ARHGAP4 0 0 1 0 0 0 1
ARHGEF10, LOC126860281 0 0 1 0 0 0 1
ARHGEF9 0 0 0 1 0 0 1
ARID1A 0 0 1 0 0 0 1
ARID2 0 1 0 0 0 0 1
ARL6IP6, LOC129934936 0 0 1 0 0 0 1
ARRDC2 0 0 1 0 0 0 1
ART1 0 0 1 0 0 0 1
ARVCF 0 0 1 0 0 0 1
ASB11 0 0 1 0 0 0 1
ASB16 0 0 1 0 0 0 1
ASL 1 0 0 0 0 0 1
ASTE1 0 0 1 0 0 0 1
ATAD1 0 0 1 0 0 0 1
ATF7IP2 0 0 1 0 0 0 1
ATL1, MAP4K5 0 0 1 0 0 0 1
ATP13A2 0 0 1 0 0 0 1
ATP1A2 0 0 1 0 0 0 1
ATP2B1 0 1 0 0 0 0 1
ATP2B3 0 0 1 0 0 0 1
ATXN7L3, UBTF 0 0 1 0 0 0 1
AUTS2 0 0 1 0 0 0 1
AVPR2 1 0 0 0 0 0 1
B3GALT1 0 0 1 0 0 0 1
B3GALT6 0 0 1 0 0 0 1
BCKDHB 0 0 0 1 0 0 1
BCORL1 0 0 1 0 0 0 1
BCS1L 0 0 0 0 1 0 1
BEST3 0 0 1 0 0 0 1
BMPR2, LOC129935434 0 0 0 0 1 0 1
BTK, LOC130068496 0 0 0 0 1 0 1
C10orf62, HOGA1 0 0 1 0 0 0 1
C12orf43, HNF1A 0 0 0 0 1 0 1
C17orf107, CHRNE 0 1 0 0 0 0 1
C7 0 1 0 0 0 0 1
CACNA1B 0 0 1 0 0 0 1
CACNA1D, LOC129936904 0 0 1 0 0 0 1
CACNA1G 0 0 1 0 0 0 1
CACNA1I 0 0 1 0 0 0 1
CAD, LOC126806172 0 0 0 1 0 0 1
CADM1 0 0 1 0 0 0 1
CALM1 0 0 0 1 0 0 1
CAMK2D 0 0 1 0 0 0 1
CATSPERG 0 0 1 0 0 0 1
CAV1, LOC129999169 0 0 0 0 1 0 1
CBL, LOC130006895 0 0 0 1 0 0 1
CCDC170 0 0 1 0 0 0 1
CCDC62 0 0 1 0 0 0 1
CCDC88C 0 0 1 0 0 0 1
CCM2, LOC129998395 1 0 0 0 0 0 1
CD36 0 0 1 0 0 0 1
CD3E 0 0 1 0 0 0 1
CD79B, GH-LCR 0 0 0 0 1 0 1
CDAN1, LOC130056932 0 0 0 1 0 0 1
CDC42BPB 0 1 0 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 1
CDK20 0 0 1 0 0 0 1
CDK4 0 0 0 1 0 0 1
CDK4, LOC130008148 0 0 1 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 1
CDKL5 0 0 0 1 0 0 1
CELF2 0 0 1 0 0 0 1
CEP85L 0 0 0 1 0 0 1
CERKL, LOC129935214 0 0 1 0 0 0 1
CERS1, GDF1 0 0 1 0 0 0 1
CFAP418, LOC130000784 0 0 0 0 1 0 1
CFAP47 0 0 1 0 0 0 1
CFD, ELANE 1 0 0 0 0 0 1
CFP 0 0 1 0 0 0 1
CHD3 0 1 0 0 0 0 1
CHD6 0 0 1 0 0 0 1
CHRNA9 0 0 1 0 0 0 1
CHRNG 1 0 0 0 0 0 1
CHST14 0 0 1 0 0 0 1
CHUK 0 0 1 0 0 0 1
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 0 1 0 0 1
CLDN2, RIPPLY1 0 0 1 0 0 0 1
CLK1 0 0 1 0 0 0 1
CNTN2 0 0 1 0 0 0 1
CNTNAP1 0 0 1 0 0 0 1
COBL 0 0 1 0 0 0 1
COG1 0 0 1 0 0 0 1
COG2 0 0 0 1 0 0 1
COL25A1 0 0 1 0 0 0 1
COL3A1, LOC126806446 0 0 1 0 0 0 1
COL4A3, LOC129935730 0 0 0 0 1 0 1
COL6A5 0 0 0 1 0 0 1
COL8A1 0 0 1 0 0 0 1
COL9A1 0 0 1 0 0 0 1
CPS1 0 0 0 0 1 0 1
CPSF3 0 0 1 0 0 0 1
CPZ 0 0 1 0 0 0 1
CRIPTO 0 0 0 1 0 0 1
CRYM, LOC130058620 0 0 0 1 0 0 1
CSF1R, LOC111188154 0 0 1 0 0 0 1
CTDP1 0 0 1 0 0 0 1
CTF1 0 0 1 0 0 0 1
CTF1, LOC130058878 0 0 0 1 0 0 1
CTH 0 0 0 1 0 0 1
CTSC 0 0 1 0 0 0 1
CTSD, LOC130005119 0 0 1 0 0 0 1
CTSE 0 0 1 0 0 0 1
CUBN, LOC126860871 0 0 0 0 1 0 1
CUBN, LOC129390143 0 0 1 0 0 0 1
CYB5R3, LOC130067609 0 0 0 0 1 0 1
CYCS 0 0 0 0 1 0 1
CYFIP2 0 0 0 1 0 0 1
CYGB, PRCD 0 0 0 1 0 0 1
CYLD, NOD2 0 0 0 1 0 0 1
DBNL, LOC129998341, PGAM2 0 0 1 0 0 0 1
DBNL, LOC129998343, PGAM2 0 0 0 0 1 0 1
DBNL, PGAM2 0 0 0 1 0 0 1
DCP2 0 0 1 0 0 0 1
DDC 0 0 1 0 0 0 1
DDOST 0 0 1 0 0 0 1
DDX52 0 0 1 0 0 0 1
DENND4C 0 0 1 0 0 0 1
DHCR7, NADSYN1 0 0 0 0 1 0 1
DHDDS 0 0 0 1 0 0 1
DHRS4L1 0 0 1 0 0 0 1
DHX30 1 0 0 0 0 0 1
DIAPH3 0 0 1 0 0 0 1
DLG4 0 0 0 0 1 0 1
DLL3, LOC130064417, PLEKHG2 0 0 0 0 1 0 1
DLL3, LOC130064419 0 0 0 0 1 0 1
DNAAF1, TAF1C 0 0 0 0 1 0 1
DNAAF2, LOC130055542 0 0 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1, PIERCE2 0 0 0 0 1 0 1
DNAAF6 0 0 0 1 0 0 1
DNAH11, LOC126859962 1 0 0 0 0 0 1
DNAH14 0 0 1 0 0 0 1
DNAH5, LOC107457585 0 0 1 0 0 0 1
DNAH5, LOC126807318 0 0 0 0 1 0 1
DNAH9 1 0 0 0 0 0 1
DNAJB6 0 0 1 0 0 0 1
DNAJC5 0 0 1 0 0 0 1
DNASE1, TRAP1 0 0 1 0 0 0 1
DNM1 0 0 0 0 1 0 1
DNMT1, LOC107080555 0 0 0 0 1 0 1
DNMT3A 0 0 1 0 0 0 1
DNMT3B, LOC126863014 0 0 0 0 1 0 1
DOK7 1 0 0 0 0 0 1
DPYSL5 0 0 1 0 0 0 1
DRD2 0 0 1 0 0 0 1
DRP2 0 0 1 0 0 0 1
DSC2, DSG2 0 0 1 0 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 0 0 1
DYNC2I2 0 0 1 0 0 0 1
DYSF 0 0 1 0 0 0 1
EAPP 0 0 1 0 0 0 1
EFCC1 0 0 1 0 0 0 1
EFEMP2, MUS81 0 0 0 0 1 0 1
EFTUD2 0 0 1 0 0 0 1
EGFR, LOC126860048 0 0 0 1 0 0 1
EGLN1, LOC129932769 0 0 0 0 1 0 1
EIF3D 0 0 1 0 0 0 1
EIF5A 0 1 0 0 0 0 1
ELAC2 0 0 1 0 0 0 1
ELMO1 0 0 1 0 0 0 1
ELMO3 0 0 1 0 0 0 1
EML6 0 0 1 0 0 0 1
EPAS1, LOC126806210 0 0 0 0 1 0 1
EPB41L1 0 0 1 0 0 0 1
EPCAM 1 0 0 0 0 0 1
EPPK1 0 0 1 0 0 0 1
ERCC4, LOC130058543 0 0 0 0 1 0 1
ERCC6, LOC126860933 0 0 1 0 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 0 1
ERMARD 0 0 1 0 0 0 1
ETHE1 0 0 0 0 1 0 1
ETV6, LOC126861451 0 0 0 0 1 0 1
EVC, LOC129992144 0 0 1 0 0 0 1
EVC2, LOC126806962 0 0 0 1 0 0 1
EVI2A, NF1 0 1 0 0 0 0 1
EXD3 0 0 1 0 0 0 1
EXOSC2 0 0 1 0 0 0 1
EXT2 0 0 1 0 0 0 1
F11 0 0 1 0 0 0 1
FAM120C 0 0 1 0 0 0 1
FAM20A, PRKAR1A 0 0 0 1 0 0 1
FAM83B 0 0 1 0 0 0 1
FANCA, LOC130059837 0 0 0 1 0 0 1
FANCE, LOC129996245 0 0 0 1 0 0 1
FANCF, LOC130005443 0 0 0 0 1 0 1
FANCI, POLG 0 0 0 0 1 0 1
FAR1 0 0 0 0 1 0 1
FASN 0 0 1 0 0 0 1
FAT1 0 0 1 0 0 0 1
FBP1 0 0 0 0 1 0 1
FBXL4 0 0 0 0 1 0 1
FBXO11, MSH6 0 0 0 0 1 0 1
FBXO39 0 0 0 0 1 0 1
FBXO41 0 0 1 0 0 0 1
FCGBP 0 0 1 0 0 0 1
FER1L6 0 0 1 0 0 0 1
FGF12 0 0 0 1 0 0 1
FLT4, LOC126807632 0 0 0 1 0 0 1
FOLR1 0 0 1 0 0 0 1
FOXL3 0 0 1 0 0 0 1
FOXO4 0 0 1 0 0 0 1
FOXP1 0 0 1 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 0 0 0 1 0 1
FRRS1L 0 0 1 0 0 0 1
FXN 0 0 0 1 0 0 1
G6PC3, LOC130060959 0 0 1 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 0 0 1 0 1
GABBR2, LOC126860700 0 0 1 0 0 0 1
GABRA1 0 0 0 0 1 0 1
GABRA3 0 0 1 0 0 0 1
GAL3ST3 0 0 1 0 0 0 1
GAL3ST4 0 0 1 0 0 0 1
GALNS 0 0 0 0 1 0 1
GAN, LOC130059498 0 0 0 0 1 0 1
GATAD1, LOC129998793 0 0 0 1 0 0 1
GATM, LOC130056991 0 0 0 0 1 0 1
GDAP1, LOC130000622 0 0 1 0 0 0 1
GFER, LOC130058203 0 0 0 1 0 0 1
GIPC3 0 0 0 1 0 0 1
GJB6 0 0 0 0 1 0 1
GLB1 0 0 0 0 1 0 1
GLB1, LOC129936434, TMPPE 1 0 0 0 0 0 1
GNAO1 0 0 0 0 1 0 1
GNE 0 0 1 0 0 0 1
GNPTAB 0 0 0 0 1 0 1
GOLGA2 0 1 0 0 0 0 1
GOSR2, LOC126862578, LRRC37A2 0 0 0 1 0 0 1
GP6 0 0 1 0 0 0 1
GPATCH8 0 0 1 0 0 0 1
GPC3 0 1 0 0 0 0 1
GPHN, RDH12 0 0 0 0 1 0 1
GPT2 0 0 1 0 0 0 1
GREM2 0 0 1 0 0 0 1
GRHL1 0 0 1 0 0 0 1
GRID2 0 0 1 0 0 0 1
GTPBP1, SUN2 0 0 1 0 0 0 1
GUCA1B 0 0 0 0 1 0 1
GUCD1 0 0 1 0 0 0 1
GUSB 1 0 0 0 0 0 1
HAFML, VEGFC 0 0 0 1 0 0 1
HARS2 0 0 1 0 0 0 1
HBA1 0 0 0 0 1 0 1
HBA2 0 0 0 0 1 0 1
HCFC1, LOC130068842 0 0 0 0 1 0 1
HCN4, LOC105370890, LOC126862173 0 0 0 1 0 0 1
HDAC4 0 0 1 0 0 0 1
HERC1 0 0 1 0 0 0 1
HERC2 0 1 0 0 0 0 1
HEXB 1 0 0 0 0 0 1
HEXIM2 0 0 1 0 0 0 1
HFE 1 0 0 0 0 0 1
HGSNAT 0 0 0 1 0 0 1
HK1, LOC130003980 0 0 1 0 0 0 1
HMGCL 0 0 0 0 1 0 1
HMGCR 0 1 0 0 0 0 1
HNF1B, LOC126862549 0 0 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 0 1
HNRNPK 0 1 0 0 0 0 1
HRC, TRPM4 0 0 1 0 0 0 1
HSD17B1 0 0 1 0 0 0 1
HSD17B10 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
HTT 0 0 1 0 0 0 1
HUWE1, LOC126863263 0 0 1 0 0 0 1
IARS2 0 0 1 0 0 0 1
ICAM5 0 0 1 0 0 0 1
IDH3B 0 0 0 1 0 0 1
IFIH1 0 0 1 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 0 1
IFNAR2, IFNAR2-IL10RB 0 0 1 0 0 0 1
IFNG 0 0 1 0 0 0 1
IFT122 1 0 0 0 0 0 1
IL7R 0 0 0 0 1 0 1
ILDR1 0 0 1 0 0 0 1
ILF3 0 0 0 1 0 0 1
INPPL1, LOC130006327 0 0 0 1 0 0 1
INSRR, NTRK1 0 0 0 1 0 0 1
IPP 0 0 1 0 0 0 1
ISCU 0 0 1 0 0 0 1
ITGB2 0 0 1 0 0 0 1
ITPA 0 0 0 1 0 0 1
ITPR1 0 1 0 0 0 0 1
JAG1 0 0 1 0 0 0 1
JAK3 0 0 0 1 0 0 1
KALRN 0 0 1 0 0 0 1
KAT2B 0 0 1 0 0 0 1
KAT6A 0 0 1 0 0 0 1
KAZALD1 0 0 1 0 0 0 1
KCNA1, LOC130007218 0 0 1 0 0 0 1
KCNE3, LIPT2 0 0 0 1 0 0 1
KCNK9 0 0 1 0 0 0 1
KCTD7 0 0 0 1 0 0 1
KDM6B 0 0 1 0 0 0 1
KIF1B, LOC126805614 0 0 0 0 1 0 1
KIF7 0 0 1 0 0 0 1
KLF11 0 0 0 0 1 0 1
KLHL11 0 0 1 0 0 0 1
KLHL17 0 0 0 0 1 0 1
KLHL3 0 0 1 0 0 0 1
KLHL7 0 0 0 0 1 0 1
KLK14 0 0 1 0 0 0 1
KLLN, LOC130004273, MLDHR, PTEN 0 0 0 0 1 0 1
KMT5B 0 0 1 0 0 0 1
KPNB1-DT, NPEPPS 0 0 1 0 0 0 1
L3MBTL1 0 0 1 0 0 0 1
LALTOP, TPO 1 0 0 0 0 0 1
LAMA2 0 0 1 0 0 0 1
LAMA4, LOC126859766 0 0 0 1 0 0 1
LAMB2 0 0 1 0 0 0 1
LARGE1 0 0 1 0 0 0 1
LDHA 0 0 0 0 1 0 1
LDLRAP1, LOC129929773 0 0 0 1 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 0 1
LMNA, LOC129931597 0 0 0 0 1 0 1
LMNA, LOC129931599 0 0 0 1 0 0 1
LNPK 0 0 1 0 0 0 1
LOC100287944, POLR3B 0 1 0 0 0 0 1
LOC106099062, LOC107133510 0 0 1 0 0 0 1
LOC106804613 0 0 0 1 0 0 1
LOC107133510, LOC110006319 0 0 0 1 0 0 1
LOC107652445, SHOX 1 0 0 0 0 0 1
LOC108903148, OPTN 0 0 0 0 1 0 1
LOC110121427, LRMDA 1 0 0 0 0 0 1
LOC110806263, TERT 0 0 1 0 0 0 1
LOC112529895, SCO1 0 0 0 0 1 0 1
LOC112552175, NDUFA11 0 0 0 0 1 0 1
LOC112840921, OTOF 0 0 0 0 1 0 1
LOC112872299, RAB7A 0 0 1 0 0 0 1
LOC114803470, SCN8A 0 0 0 1 0 0 1
LOC121847958, MAN2C1, NEIL1 0 1 0 0 0 0 1
LOC121853040, TCN2 0 0 1 0 0 0 1
LOC125177414, MYH10 0 0 1 0 0 0 1
LOC125312417, STRADA 0 0 0 1 0 0 1
LOC125467768, PCDH19 0 0 0 0 1 0 1
LOC126805688, YARS1 0 0 1 0 0 0 1
LOC126805765, NEXN 0 0 0 0 1 0 1
LOC126806253, STAMBP 0 0 0 1 0 0 1
LOC126806462, SATB2 0 0 1 0 0 0 1
LOC126806490, UNC80 0 0 0 0 1 0 1
LOC126807509, UQCRQ 0 0 0 0 1 0 1
LOC126807556, SPARC 0 0 0 1 0 0 1
LOC126859771, RFX6 0 0 0 1 0 0 1
LOC126859837, SYNE1 0 0 1 0 0 0 1
LOC126860075, POR 0 0 0 1 0 0 1
LOC126860121, TRRAP 0 0 1 0 0 0 1
LOC126860131, RELN 0 0 1 0 0 0 1
LOC126860392, RP1 0 0 1 0 0 0 1
LOC126860980, MAT1A 0 0 1 0 0 0 1
LOC126861242, NDUFV1 1 0 0 0 0 0 1
LOC126861356, SCN4B 0 0 0 1 0 0 1
LOC126861443, MFAP5 0 0 0 0 1 0 1
LOC126861538, MYO1A 0 0 0 0 1 0 1
LOC126861831, NALCN 0 0 0 0 1 0 1
LOC126861897, MYH7 0 0 0 1 0 0 1
LOC126862097, SLC12A6 0 0 0 1 0 0 1
LOC126862494, MYH8, MYHAS 0 0 0 1 0 0 1
LOC126862757, TCF4 0 0 0 0 1 0 1
LOC126862763, NEDD4L 0 0 0 1 0 0 1
LOC126863207, MID1 0 0 0 0 1 0 1
LOC129929426, MFN2 0 0 0 1 0 0 1
LOC129929542, SDHB 1 0 0 0 0 0 1
LOC129930237, MYCL 0 0 1 0 0 0 1
LOC129931648, NTRK1 0 0 0 1 0 0 1
LOC129931761, NDUFS2 0 0 0 0 1 0 1
LOC129934236, ST3GAL5 0 0 0 1 0 0 1
LOC129935182, TTN 0 0 1 0 0 0 1
LOC129935186, TTN 0 0 0 1 0 0 1
LOC129936652, PTH1R 0 0 0 1 0 0 1
LOC129992086, SLC75A1 0 0 1 0 0 0 1
LOC129996857, NDUFAF4 0 0 0 0 1 0 1
LOC129997916, PMS2 0 0 0 0 1 0 1
LOC130002133, PTCH1 0 0 0 1 0 0 1
LOC130002899, SURF1 0 0 0 1 0 0 1
LOC130003098, SLC34A3 0 0 0 0 1 0 1
LOC130004109, VCL 0 0 0 1 0 0 1
LOC130004273, MLDHR, PTEN 0 0 1 0 0 0 1
LOC130004598, NFKB2 0 0 0 0 1 0 1
LOC130004614, SUFU 0 0 0 1 0 0 1
LOC130006838, SCN4B 0 0 0 1 0 0 1
LOC130007232, TNFRSF1A 0 0 0 0 1 0 1
LOC130008712, UNG 0 0 1 0 0 0 1
LOC130055387, NRL 0 0 0 0 1 0 1
LOC130055497, NFKBIA 0 0 1 0 0 0 1
LOC130057222, TPM1 0 0 1 0 0 0 1
LOC130057352, SMAD3 0 0 0 1 0 0 1
LOC130059156, TK2 0 0 0 0 1 0 1
LOC130059267, NFATC3 0 0 1 0 0 0 1
LOC130059818, SPG7 0 0 0 0 1 0 1
LOC130059891, SERPINF1 0 0 0 1 0 0 1
LOC130062568, NEDD4L 0 0 0 0 1 0 1
LOC130064281, SDHAF1 0 0 0 1 0 0 1
LOC130065678, SNTA1 0 0 1 0 0 0 1
LOC130066817, PFKL 0 0 0 0 1 0 1
LOC130067016, LZTR1 0 0 1 0 0 0 1
LOC130067862, TYMP 0 0 0 0 1 0 1
LOC130067864, TYMP 0 0 0 0 1 0 1
LOC130068098, RPGR 0 0 1 0 0 0 1
LOC130068621, NDUFA1 0 0 0 0 1 0 1
LOC132090059, PUS1 0 0 0 0 1 0 1
LOXL4 0 0 1 0 0 0 1
LRAT 0 0 0 1 0 0 1
LRIG1 0 0 0 0 1 0 1
LRP1B 0 0 1 0 0 0 1
LRRN4 0 0 1 0 0 0 1
LTBP1 0 0 1 0 0 0 1
MAGEL2 1 0 0 0 0 0 1
MAN2B1 0 0 1 0 0 0 1
MAP1B 1 0 0 0 0 0 1
MARCHF11 0 0 1 0 0 0 1
MAST3 0 0 1 0 0 0 1
MATN3, WDR35-DT 0 0 0 0 1 0 1
MCCC1 0 0 1 0 0 0 1
MCCC2 0 0 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 1
MGAM 0 0 1 0 0 0 1
MICAL1, ZBTB24 0 0 0 1 0 0 1
MIR4733HG, NF1 0 0 0 1 0 0 1
MIR6766, POLG 0 0 0 0 1 0 1
MIR6795, NOTCH3 0 0 0 0 1 0 1
MKRN2, RAF1 0 0 0 0 1 0 1
MME 0 0 1 0 0 0 1
MMP21 0 0 0 0 1 0 1
MPV17 0 0 0 0 1 0 1
MRGPRF 0 0 1 0 0 0 1
MRPL36, NDUFS6 0 0 0 0 1 0 1
MT-ATP6, MT-ATP8 0 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 0 1
MT-CO1 0 0 1 0 0 0 1
MT-ND4L 0 0 1 0 0 0 1
MT-RNR1 0 0 1 0 0 0 1
MT-TC 0 0 1 0 0 0 1
MT-TE 0 0 1 0 0 0 1
MT-TH 0 0 1 0 0 0 1
MT-TK 1 0 0 0 0 0 1
MT-TS2 0 0 1 0 0 0 1
MT-TV 0 0 1 0 0 0 1
MTHFS, ST20-MTHFS 0 0 1 0 0 0 1
MUTYH, TOE1 0 0 0 0 1 0 1
MYBPHL 0 0 1 0 0 0 1
NAA10 1 0 0 0 0 0 1
NAA15 0 0 1 0 0 0 1
NAGLU 0 0 1 0 0 0 1
NAGS 0 0 1 0 0 0 1
NARS1 0 1 0 0 0 0 1
NDUFAF4 0 0 0 0 1 0 1
NDUFS4 0 0 1 0 0 0 1
NEFH 0 0 1 0 0 0 1
NEU1 0 0 0 1 0 0 1
NFASC 0 1 0 0 0 0 1
NFATC3 0 0 1 0 0 0 1
NFIA 0 1 0 0 0 0 1
NFKB2, PSD 1 0 0 0 0 0 1
NFKBIZ 0 0 1 0 0 0 1
NHLRC1 0 0 0 1 0 0 1
NHSL2 0 0 1 0 0 0 1
NIPBL 0 0 1 0 0 0 1
NKX6-2 0 0 1 0 0 0 1
NOTUM 0 0 1 0 0 0 1
NPEPPS 0 0 1 0 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
NPR2 0 0 0 1 0 0 1
NPR2, SPAG8 0 0 1 0 0 0 1
NPRL2 0 0 1 0 0 0 1
NRAP 0 0 1 0 0 0 1
NRL 0 0 0 0 1 0 1
NRXN2 0 0 1 0 0 0 1
NUP210 0 0 0 0 1 0 1
OCA2 1 0 0 0 0 0 1
OCRL 0 0 0 1 0 0 1
OGDHL 0 0 1 0 0 0 1
ORC1 0 0 1 0 0 0 1
PABPC1L 0 0 1 0 0 0 1
PADI2 0 0 1 0 0 0 1
PAFAH1B1 0 0 0 0 1 0 1
PAH 0 1 0 0 0 0 1
PAMR1 0 0 1 0 0 0 1
PAPOLG 0 0 1 0 0 0 1
PAX1 0 0 1 0 0 0 1
PAX2 0 0 1 0 0 0 1
PDE1A 0 0 0 0 1 0 1
PDE5A 0 0 1 0 0 0 1
PDSS1 0 0 1 0 0 0 1
PDZD8 0 0 1 0 0 0 1
PEX10 0 0 0 0 1 0 1
PEX11B 0 0 1 0 0 0 1
PEX13, PUS10 0 0 1 0 0 0 1
PEX19 0 0 0 0 1 0 1
PEX2 0 0 0 1 0 0 1
PEX3 0 0 1 0 0 0 1
PGAP6 0 0 1 0 0 0 1
PHF2 0 0 1 0 0 0 1
PHYH 0 0 0 0 1 0 1
PIGV 0 0 0 1 0 0 1
PIK3CB 0 0 1 0 0 0 1
PLCL2 0 0 1 0 0 0 1
PLEC 0 0 1 0 0 0 1
PLXNA4 0 0 1 0 0 0 1
PLXNB3 0 0 1 0 0 0 1
PLXND1 0 0 1 0 0 0 1
PMP2 0 0 1 0 0 0 1
PNP 0 0 0 0 1 0 1
PNPLA6 0 0 1 0 0 0 1
PNPO 0 1 0 0 0 0 1
POGZ 0 1 0 0 0 0 1
POLR2A 0 1 0 0 0 0 1
POLR3B 0 0 1 0 0 0 1
PPM1B 0 0 1 0 0 0 1
PPP1R12A 0 0 1 0 0 0 1
PPP2R1A 1 0 0 0 0 0 1
PPP2R5D 1 0 0 0 0 0 1
PPRC1 0 0 1 0 0 0 1
PPT1 0 0 1 0 0 0 1
PREPL 0 0 0 0 1 0 1
PRKACB 0 0 1 0 0 0 1
PROK2 0 1 0 0 0 0 1
PSMB10 0 1 0 0 0 0 1
PSMD11 0 0 1 0 0 0 1
PSME3 0 0 1 0 0 0 1
PTP4A3 0 0 1 0 0 0 1
PTPN12 0 0 1 0 0 0 1
PTPRA 0 0 1 0 0 0 1
PUSL1 0 0 1 0 0 0 1
PVALB 0 0 1 0 0 0 1
RAC3 0 0 1 0 0 0 1
RAD21 0 0 1 0 0 0 1
RAD54L2 0 0 0 0 1 0 1
RAI1 0 0 1 0 0 0 1
RALB 0 0 1 0 0 0 1
RAPGEF5 0 0 1 0 0 0 1
RBFOX3 0 0 1 0 0 0 1
RDX 0 0 1 0 0 0 1
RECQL4 0 0 1 0 0 0 1
RELN, SLC26A5 0 0 0 1 0 0 1
RERE 0 0 1 0 0 0 1
RFX5 0 0 1 0 0 0 1
RGR 0 0 0 0 1 0 1
RNF213 0 0 1 0 0 0 1
ROM1 0 0 0 0 1 0 1
RPL26 0 0 0 1 0 0 1
RPL5 0 0 0 1 0 0 1
RPS6KA3 0 1 0 0 0 0 1
RRM2B 0 0 1 0 0 0 1
RUNX2, SUPT3H 0 0 0 0 1 0 1
SAMHD1, TLDC2 0 0 1 0 0 0 1
SASH1 0 0 1 0 0 0 1
SATB2 0 0 0 1 0 0 1
SC5D 0 0 1 0 0 0 1
SCN2B 0 0 0 0 1 0 1
SCN4A 0 0 1 0 0 0 1
SCN4B 0 0 0 0 1 0 1
SCNN1A 1 0 0 0 0 0 1
SCNN1D 0 0 1 0 0 0 1
SCO1 0 0 1 0 0 0 1
SDHAF2 0 0 0 0 1 0 1
SECTM1 0 0 1 0 0 0 1
SETDB1 0 0 1 0 0 0 1
SIL1 1 0 0 0 0 0 1
SIX1 0 0 0 1 0 0 1
SLC12A2 0 0 1 0 0 0 1
SLC17A5 1 0 0 0 0 0 1
SLC25A20 0 0 1 0 0 0 1
SLC25A3 0 0 1 0 0 0 1
SLC26A7 0 0 1 0 0 0 1
SLC31A1 0 0 1 0 0 0 1
SLC34A1 0 0 1 0 0 0 1
SLC35C1 0 0 1 0 0 0 1
SLC36A2 0 0 1 0 0 0 1
SLC38A4 0 0 1 0 0 0 1
SLC38A5 0 0 1 0 0 0 1
SLC46A2 0 0 1 0 0 0 1
SLC48A1 0 0 1 0 0 0 1
SLC4A10 0 0 1 0 0 0 1
SLC4A2 0 0 1 0 0 0 1
SLC52A2 0 0 0 1 0 0 1
SLC6A5 0 1 0 0 0 0 1
SLC6A9 0 0 1 0 0 0 1
SLC8A3 0 0 1 0 0 0 1
SMAD6 0 0 1 0 0 0 1
SMC3 0 0 1 0 0 0 1
SMG8 0 0 1 0 0 0 1
SNX29 0 0 1 0 0 0 1
SOD1 0 0 0 0 1 0 1
SOD1, SOD1-DT 0 0 0 0 1 0 1
SON 0 0 1 0 0 0 1
SOX18 0 0 0 0 1 0 1
SPATA31G1 0 0 1 0 0 0 1
SQSTM1 0 0 1 0 0 0 1
SRCAP 0 0 1 0 0 0 1
SRRM2 0 0 0 1 0 0 1
SSBP2 0 0 1 0 0 0 1
SSBP3 0 0 1 0 0 0 1
STAG2 0 0 1 0 0 0 1
STAT5B 0 0 1 0 0 0 1
STIM1 0 0 1 0 0 0 1
SVIL 0 0 1 0 0 0 1
SYNE2 0 0 1 0 0 0 1
SYNE4 0 1 0 0 0 0 1
TAF1L 0 0 1 0 0 0 1
TAF4 0 0 1 0 0 0 1
TAMM41 0 0 1 0 0 0 1
TARDBP 0 0 0 0 1 0 1
TAS1R2 0 0 1 0 0 0 1
TBR1 0 1 0 0 0 0 1
TBRG1 0 0 1 0 0 0 1
TBX20 0 0 1 0 0 0 1
TCP11L2 0 0 1 0 0 0 1
TCTN2 0 0 0 0 1 0 1
TDG 0 0 1 0 0 0 1
TENM4 0 0 0 0 1 0 1
TEP1 0 0 1 0 0 0 1
TERC 0 0 0 0 1 0 1
TET1 0 0 1 0 0 0 1
TET3 0 0 1 0 0 0 1
TFE3 0 0 1 0 0 0 1
THBS1 0 0 1 0 0 0 1
THEMIS2 0 0 1 0 0 0 1
THSD4 0 0 1 0 0 0 1
TIAM1 0 0 1 0 0 0 1
TJP2 0 0 1 0 0 0 1
TK2 0 0 0 0 1 0 1
TKFC 0 0 1 0 0 0 1
TMEM26 0 0 1 0 0 0 1
TMEM70 0 0 0 1 0 0 1
TMPRSS6 0 0 1 0 0 0 1
TNFRSF13C 0 0 1 0 0 0 1
TNFSF12, TNFSF12-TNFSF13 0 0 0 1 0 0 1
TONSL 0 0 1 0 0 0 1
TPK1 0 0 0 0 1 0 1
TPO 0 0 0 0 1 0 1
TRAF7 0 0 1 0 0 0 1
TRAPPC10 0 0 1 0 0 0 1
TRAPPC12 0 0 1 0 0 0 1
TRIM71 0 0 1 0 0 0 1
TRIP4 0 0 1 0 0 0 1
TRPM3 0 0 1 0 0 0 1
TSPAN7 0 0 0 0 1 0 1
TUBB4A 0 1 0 0 0 0 1
TYR 1 0 0 0 0 0 1
UBE2A 0 0 0 1 0 0 1
UBR4 0 0 1 0 0 0 1
UFM1 0 1 0 0 0 0 1
UGT1A, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 0 0 1
UGT1A, UGT1A10, UGT1A8, UGT1A9 0 0 1 0 0 0 1
UMPS 0 0 1 0 0 0 1
UNC5A 0 0 1 0 0 0 1
UQCRB 0 0 0 1 0 0 1
USP53 0 0 1 0 0 0 1
VARS2 0 0 1 0 0 0 1
VAV2 0 0 1 0 0 0 1
VPS41 0 0 1 0 0 0 1
VWA1 0 0 1 0 0 0 1
WAC 1 0 0 0 0 0 1
WASHC4 0 0 1 0 0 0 1
WSCD2 0 0 1 0 0 0 1
XBP1 0 0 1 0 0 0 1
XRN1 0 0 1 0 0 0 1
ZDHHC8 0 0 1 0 0 0 1
ZIC3 0 0 0 0 1 0 1
ZNF264 0 0 1 0 0 0 1
ZNF292 0 0 1 0 0 0 1
ZNF429 0 0 1 0 0 0 1
ZNF518B 0 0 1 0 0 0 1
ZNF711 0 1 0 0 0 0 1
ZNF746 0 0 1 0 0 0 1
ZSWIM6 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 794
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
not provided 1729 728 5268 5565 6164 1 19455
not specified 438 153 962 525 402 0 2480
Polycystic kidney disease, adult type 25 8 58 60 161 0 312
Hereditary spherocytosis type 1 43 19 67 83 58 0 270
Wilson disease 52 27 52 33 29 0 193
Hereditary factor VIII deficiency disease 63 48 22 8 8 0 149
Very long chain acyl-CoA dehydrogenase deficiency 31 18 59 17 14 0 139
Hereditary pancreatitis 9 14 38 41 26 0 128
Telangiectasia, hereditary hemorrhagic, type 2 41 13 15 9 48 0 126
Telangiectasia, hereditary hemorrhagic, type 1 45 11 28 15 23 0 122
Asphyxiating thoracic dystrophy 3 5 5 40 26 42 0 118
Anemia, congenital dyserythropoietic, type 1a 2 1 40 44 26 0 113
Microcephalic osteodysplastic primordial dwarfism type II 0 0 14 55 41 0 110
Rotor syndrome 5 4 40 30 31 0 110
Charcot-Marie-Tooth disease type 4B3 0 0 32 34 26 0 92
Medium-chain acyl-coenzyme A dehydrogenase deficiency 29 12 27 3 20 0 91
Primary ciliary dyskinesia 7 1 1 23 33 31 0 89
Ehlers-Danlos syndrome, classic type, 2 0 0 22 28 36 0 86
Familial cold autoinflammatory syndrome 2 0 0 29 25 28 0 82
Majeed syndrome 0 1 29 36 12 0 78
Alstrom syndrome 0 0 27 23 27 0 77
Primary ciliary dyskinesia 3 1 2 18 19 26 0 66
Ehlers-Danlos syndrome, kyphoscoliotic type 1 1 0 23 18 22 0 64
Glycogen storage disease, type II 7 5 13 22 17 0 64
Glycogen storage disease, type VII 1 3 22 20 12 0 58
Cardiomyopathy, familial hypertrophic 27 3 0 15 23 16 0 57
Shprintzen-Goldberg syndrome 0 0 16 25 15 0 56
Fanconi anemia complementation group A 1 0 4 14 36 0 55
Hereditary spherocytosis type 5 1 1 26 19 7 0 54
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 19 20 15 0 54
Familial pulmonary capillary hemangiomatosis 1 1 9 17 24 0 52
Fanconi anemia complementation group P 0 0 3 15 34 0 52
Thrombocytopenia 2 0 0 7 15 29 0 51
Elliptocytosis 1 1 2 22 13 8 0 46
Cystic fibrosis 43 2 0 0 0 0 45
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 16 11 7 2 9 0 45
Dilated cardiomyopathy 1DD 1 0 15 16 13 0 45
Arrhythmogenic right ventricular dysplasia 9 5 0 14 9 16 0 44
Noonan syndrome 16 0 5 4 19 0 44
Hemolytic anemia due to glucophosphate isomerase deficiency 5 0 14 17 7 0 43
Osteogenesis imperfecta type 8 2 0 10 12 17 0 41
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 14 16 9 0 39
Dilated cardiomyopathy 1JJ 0 0 5 13 21 0 39
Neuroblastoma, susceptibility to, 3 0 0 6 9 23 0 38
Arterial tortuosity syndrome 1 1 14 9 12 0 37
Charcot-Marie-Tooth disease type 4B2 0 0 17 12 8 0 37
Hemolytic anemia due to glutathione reductase deficiency 0 0 18 11 8 0 37
Autosomal recessive nonsyndromic hearing loss 3 0 1 10 5 19 0 35
Combined immunodeficiency due to LRBA deficiency 0 0 11 10 12 0 33
Polycystic kidney disease 2 12 2 4 1 14 0 33
Spondylocostal dysostosis 1, autosomal recessive 0 0 9 13 11 0 33
Cerebroretinal microangiopathy with calcifications and cysts 1 2 1 4 7 18 0 32
Bloom syndrome 2 0 4 13 12 0 31
Cutis laxa, autosomal recessive, type 1B 1 0 12 12 6 0 31
Fanconi anemia complementation group D2 1 1 2 0 27 0 31
Hereditary insensitivity to pain with anhidrosis 0 0 10 8 12 0 30
X-linked Alport syndrome 5 5 3 3 14 0 30
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 17 12 0 0 0 0 29
Renal carnitine transport defect 8 2 5 2 12 0 29
Smith-Lemli-Opitz syndrome 8 1 3 3 14 0 29
Primary ciliary dyskinesia 15 0 0 4 11 13 0 28
Breast-ovarian cancer, familial, susceptibility to, 4 2 1 8 12 4 0 27
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 6 9 12 0 27
Noonan syndrome 9 0 0 5 9 13 0 27
Pancytopenia-developmental delay syndrome 0 1 4 9 13 0 27
Biotinidase deficiency 9 5 4 2 6 0 26
Cardiofaciocutaneous syndrome 4 0 1 7 4 14 0 26
Familial cancer of breast 1 0 6 5 14 0 26
Hemolytic anemia due to adenylate kinase deficiency 0 0 8 9 9 0 26
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 1 0 10 7 8 0 26
Fanconi anemia complementation group I 0 0 2 4 19 0 25
KBG syndrome 1 0 5 8 11 0 25
Erythrocytosis, familial, 4 0 1 2 7 14 0 24
Retinitis pigmentosa 25 2 1 2 5 13 0 23
Rhizomelic chondrodysplasia punctata type 2 0 0 5 8 10 0 23
Stüve-Wiedemann syndrome 1 0 0 4 7 12 0 23
Triosephosphate isomerase deficiency 0 0 5 10 8 0 23
Atrial conduction disease 0 0 6 5 11 0 22
Autoinflammatory syndrome, familial, Behcet-like 1 0 0 7 9 6 0 22
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 0 4 7 11 0 22
Kabuki syndrome 1 0 0 7 3 12 0 22
Charcot-Marie-Tooth disease axonal type 2P 0 0 9 7 5 0 21
Multiple acyl-CoA dehydrogenase deficiency 0 2 5 4 10 0 21
Aneurysm-osteoarthritis syndrome 0 1 5 9 5 0 20
Aortic aneurysm, familial thoracic 10 0 0 8 7 5 0 20
Aortic aneurysm, familial thoracic 8 0 0 1 8 11 0 20
HNSHA due to aldolase A deficiency 0 0 4 11 5 0 20
Asphyxiating thoracic dystrophy 2 0 2 5 7 5 0 19
Developmental and epileptic encephalopathy, 18 0 0 5 10 4 0 19
Ehlers-Danlos syndrome, classic type 0 0 4 5 10 0 19
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 1 0 8 9 1 0 19
Aortic aneurysm, familial thoracic 4 0 0 10 4 4 0 18
Diabetes mellitus, transient neonatal, 1 0 0 3 10 5 0 18
Loeys-Dietz syndrome 4 0 2 4 3 9 0 18
Long QT syndrome 11 0 0 4 8 6 0 18
Osteogenesis imperfecta type 7 2 0 8 3 5 0 18
Primary ciliary dyskinesia 20 1 0 2 4 11 0 18
Rhizomelic chondrodysplasia punctata type 3 0 0 4 8 6 0 18
Brugada syndrome 4 0 0 5 6 6 0 17
Charcot-Marie-Tooth disease type 4D 0 0 5 7 5 0 17
Glycogen storage disease, type V 1 0 7 3 6 0 17
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 4 8 5 0 17
Patterned macular dystrophy 2 0 0 5 6 6 0 17
Telangiectasia, hereditary hemorrhagic, type 5 0 0 7 8 2 0 17
Agammaglobulinemia 2, autosomal recessive 0 0 3 3 10 0 16
Ataxia-telangiectasia-like disorder 1 0 0 4 6 6 0 16
Carnitine palmitoyl transferase 1A deficiency 0 0 2 3 11 0 16
Cerebral cavernous malformation 2 3 0 0 3 10 0 16
Charcot-Marie-Tooth disease type 4H 0 0 5 7 4 0 16
Dyskeratosis congenita, autosomal recessive 3 0 0 4 5 7 0 16
Retinitis pigmentosa 45 0 0 4 2 10 0 16
VPS13A-related neurodegenerative disease 0 0 4 4 8 0 16
Autosomal recessive hypophosphatemic bone disease 0 0 3 9 3 0 15
Charcot-Marie-Tooth disease type 4B1 0 0 5 4 6 0 15
Citrullinemia type I 2 2 0 1 10 0 15
Developmental and epileptic encephalopathy, 69 0 0 3 2 10 0 15
Glycogen storage disease IXb 0 1 1 4 9 0 15
Hypercholesterolemia, familial, 4 0 0 4 8 3 0 15
Left ventricular noncompaction 1 0 0 1 5 9 0 15
Myoglobinuria, acute recurrent, autosomal recessive 1 0 3 8 3 0 15
Neuropathy, hereditary sensory and autonomic, type 1C 0 0 6 3 6 0 15
Primary ciliary dyskinesia 13 0 0 3 3 9 0 15
Primary ciliary dyskinesia 23 0 0 5 4 6 0 15
Retinitis pigmentosa 13 0 0 0 5 10 0 15
X-linked chondrodysplasia punctata 1 0 0 1 3 11 0 15
Autosomal dominant aplasia and myelodysplasia 0 0 0 3 11 0 14
DDX41-related hematologic malignancy predisposition syndrome 4 0 2 2 6 0 14
Giant axonal neuropathy 1 0 2 4 4 4 0 14
Glycogen storage disease, type VI 0 0 2 6 6 0 14
Hereditary persistence of fetal hemoglobin 0 0 3 5 6 0 14
MOGS-congenital disorder of glycosylation 0 0 1 5 8 0 14
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 0 0 6 2 6 0 14
Neuropathy, hereditary sensory and autonomic, type 2B 0 1 3 3 7 0 14
Primary ciliary dyskinesia 18 0 0 3 9 2 0 14
Pulmonary hypertension, primary, 2 0 1 3 6 4 0 14
Retinitis pigmentosa 1 0 0 3 6 5 0 14
Transcobalamin II deficiency 0 0 1 7 6 0 14
ALG1-congenital disorder of glycosylation 2 0 1 5 5 0 13
Autosomal recessive nonsyndromic hearing loss 77 0 0 1 5 7 0 13
Cole-Carpenter syndrome 2 0 0 1 7 5 0 13
Deficiency of acetyl-CoA acetyltransferase 0 2 3 4 4 0 13
Developmental and epileptic encephalopathy, 50 0 0 3 6 4 0 13
Fanconi anemia complementation group C 0 0 1 4 8 0 13
Glomuvenous malformation 4 2 0 1 6 0 13
Hypertrophic cardiomyopathy 1 0 0 2 3 8 0 13
Immunodeficiency, common variable, 10 0 0 1 5 7 0 13
Legius syndrome 0 0 2 5 6 0 13
Long QT syndrome 12 0 0 5 3 5 0 13
Maturity-onset diabetes of the young type 8 0 0 3 5 5 0 13
Osteogenesis imperfecta type 13 0 0 4 6 3 0 13
Primary ciliary dyskinesia 30 0 1 2 4 6 0 13
Primary familial polycythemia due to EPO receptor mutation 0 0 2 6 5 0 13
Propionic acidemia 1 0 3 3 6 0 13
Stuve-Wiedemann syndrome 0 0 4 3 6 0 13
Agammaglobulinemia 5, autosomal dominant 0 0 0 1 11 0 12
Atrial fibrillation, familial, 7 0 0 4 3 5 0 12
Autosomal recessive nonsyndromic hearing loss 28 0 0 2 4 6 0 12
Autosomal recessive nonsyndromic hearing loss 30 0 1 4 0 7 0 12
Bone fragility with contractures, arterial rupture, and deafness 0 0 2 2 8 0 12
Bone marrow failure syndrome 3 0 0 3 4 5 0 12
Fanconi anemia complementation group F 1 0 1 3 7 0 12
Immunodeficiency, common variable, 3 0 1 5 3 3 0 12
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 1 4 2 5 0 12
Maturity-onset diabetes of the young type 11 0 0 1 2 9 0 12
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 3 6 3 0 12
Primary ciliary dyskinesia 10 0 1 3 3 5 0 12
Primary ciliary dyskinesia 14 1 0 2 4 5 0 12
Primary ciliary dyskinesia 9 1 0 2 5 4 0 12
Autosomal dominant slowed nerve conduction velocity 0 0 3 1 7 0 11
Charcot-Marie-Tooth disease X-linked dominant 1 5 3 2 0 1 0 11
Charcot-Marie-Tooth disease type 1C 1 0 3 3 4 0 11
Combined malonic and methylmalonic acidemia 1 0 6 0 4 0 11
DK1-congenital disorder of glycosylation 0 0 6 4 1 0 11
Developmental and epileptic encephalopathy, 77 0 0 3 6 2 0 11
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 0 1 6 4 0 11
Immunodeficiency, common variable, 12 0 0 2 3 6 0 11
Kleefstra syndrome 1 0 0 1 5 5 0 11
Opsismodysplasia 0 0 7 2 2 0 11
Pancytopenia due to IKZF1 mutations 0 0 1 3 7 0 11
Primary ciliary dyskinesia 2 0 0 2 6 3 0 11
RIDDLE syndrome 0 0 4 2 5 0 11
Wolcott-Rallison dysplasia 0 0 6 3 2 0 11
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 3 2 5 0 10
Charcot-Marie-Tooth disease type 2R 0 0 2 7 1 0 10
Deficiency of malonyl-CoA decarboxylase 0 0 3 4 3 0 10
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 4 3 3 0 10
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 0 0 1 5 4 0 10
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 0 2 5 3 0 10
Holoprosencephaly 11 0 0 0 1 9 0 10
Kartagener syndrome 0 2 2 4 2 0 10
Maple syrup urine disease type 1A 0 0 0 0 10 0 10
Maturity-onset diabetes of the young type 14 0 0 4 3 3 0 10
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 2 7 0 10
Noonan syndrome-like disorder with loose anagen hair 1 1 0 1 2 6 0 10
Sotos syndrome 1 0 0 3 6 0 10
Aortic aneurysm, familial thoracic 9 0 0 4 2 3 0 9
Autoinflammatory syndrome, familial, Behcet-like 0 0 8 1 0 0 9
Cerebellar atrophy with seizures and variable developmental delay 0 0 2 4 3 0 9
Danon disease 0 0 0 1 8 0 9
Developmental and epileptic encephalopathy 94 0 0 2 2 5 0 9
Familial dysautonomia 0 0 6 2 1 0 9
Glycogen storage disease due to muscle beta-enolase deficiency 0 0 2 2 5 0 9
Hereditary spastic paraplegia 7 2 1 0 0 6 0 9
Imerslund-Grasbeck syndrome type 2 0 0 2 2 5 0 9
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 0 2 3 4 0 9
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 0 1 8 0 9
Osteogenesis imperfecta type 16 0 0 1 6 2 0 9
Periventricular nodular heterotopia 7 0 0 0 4 5 0 9
Primary ciliary dyskinesia 22 0 0 1 7 1 0 9
RECON progeroid syndrome 0 0 6 2 1 0 9
Retinitis pigmentosa 33 0 1 1 4 3 0 9
Retinitis pigmentosa 38 1 2 2 2 2 0 9
Retinitis pigmentosa 43 0 0 2 1 6 0 9
Retinitis pigmentosa 54 0 0 0 2 7 0 9
Schimke immuno-osseous dysplasia 0 0 1 3 5 0 9
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0 0 7 1 1 0 9
Action myoclonus-renal failure syndrome 0 0 4 3 1 0 8
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 0 0 2 4 2 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 3 1 3 0 8
Bruck syndrome 2 0 0 2 3 3 0 8
Developmental and epileptic encephalopathy, 51 0 0 3 2 3 0 8
Diamond-Blackfan anemia 3 0 0 1 1 6 0 8
Fanconi anemia complementation group E 0 0 0 2 6 0 8
Fanconi anemia complementation group G 0 0 0 4 4 0 8
Fanconi anemia complementation group L 0 0 1 2 5 0 8
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 3 3 0 8
Landau-Kleffner syndrome 0 1 2 1 4 0 8
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 4 0 4 0 8
Multiple endocrine neoplasia type 4 0 1 1 2 4 0 8
Osteogenesis imperfecta type 6 0 0 4 2 2 0 8
Primary ciliary dyskinesia 24 1 0 0 5 2 0 8
Primary ciliary dyskinesia 6 0 0 5 2 1 0 8
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 2 3 3 0 8
3MC syndrome 1 0 0 1 2 4 0 7
Autosomal recessive nonsyndromic hearing loss 8 0 0 0 1 6 0 7
Catecholaminergic polymorphic ventricular tachycardia 3 0 0 3 3 1 0 7
Charcot-Marie-Tooth disease dominant intermediate F 0 0 1 4 2 0 7
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 0 2 3 2 0 7
Deficiency of butyryl-CoA dehydrogenase 1 0 0 2 4 0 7
Developmental and epileptic encephalopathy, 12 0 0 2 1 4 0 7
Developmental and epileptic encephalopathy, 23 0 0 0 2 5 0 7
Developmental and epileptic encephalopathy, 36 0 0 1 2 4 0 7
Diamond-Blackfan anemia 1 1 0 0 0 6 0 7
Dyskeratosis congenita, autosomal recessive 2 0 0 0 5 2 0 7
Fanconi anemia complementation group B 0 0 0 1 6 0 7
Galactosylceramide beta-galactosidase deficiency 1 0 1 4 1 0 7
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 0 0 1 6 0 7
Heterotaxy, visceral, 8, autosomal 0 1 1 1 4 0 7
Hyper-IgM syndrome type 5 0 0 4 2 1 0 7
Immunodeficiency, common variable, 4 0 0 1 4 2 0 7
Intellectual disability, autosomal dominant 1 0 0 2 3 2 0 7
Koolen-de Vries syndrome 0 0 1 5 1 0 7
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 2 0 5 0 7
Multiple endocrine neoplasia, type 1 3 1 2 1 0 0 7
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 0 3 3 1 0 7
Ornithine carbamoyltransferase deficiency 1 1 0 0 5 0 7
Primary ciliary dyskinesia 28 0 0 2 3 2 0 7
Primary ciliary dyskinesia 32 0 0 0 0 7 0 7
Succinyl-CoA acetoacetate transferase deficiency 0 0 0 3 4 0 7
ALG6-congenital disorder of glycosylation 1C 0 0 2 2 2 0 6
Acyl-CoA dehydrogenase 9 deficiency 0 0 1 0 5 0 6
Agammaglobulinemia 4, autosomal recessive 0 0 1 1 4 0 6
Agenesis of the corpus callosum with peripheral neuropathy 0 0 0 3 3 0 6
Alexander disease 1 0 1 0 4 0 6
Aortic aneurysm, familial thoracic 7 0 0 1 3 2 0 6
Ataxia-telangiectasia syndrome 1 0 2 2 1 0 6
Autosomal recessive nonsyndromic hearing loss 79 0 0 2 0 4 0 6
Biotin-responsive basal ganglia disease 0 0 0 4 2 0 6
Developmental and epileptic encephalopathy, 25 0 0 1 3 2 0 6
Developmental and epileptic encephalopathy, 48 0 0 1 3 2 0 6
Familial adenomatous polyposis 3 0 0 3 2 1 0 6
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 2 2 0 0 6
Holoprosencephaly 5 1 0 1 0 4 0 6
Hyper-IgM syndrome type 3 0 0 0 0 6 0 6
Immunodeficiency, common variable, 1 1 0 0 2 3 0 6
Immunodeficiency, common variable, 14 0 0 1 1 4 0 6
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 0 1 3 2 0 6
Intellectual disability, X-linked 1 0 0 2 1 3 0 6
Leber congenital amaurosis 12 0 0 2 0 4 0 6
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 0 2 0 3 0 6
Mitochondrial trifunctional protein deficiency 2 0 0 0 2 4 0 6
Mowat-Wilson syndrome 0 0 1 2 3 0 6
Neuronal ceroid lipofuscinosis 3 0 0 1 3 2 0 6
Noonan syndrome 8 3 0 1 1 1 0 6
PGM1-congenital disorder of glycosylation 0 0 0 0 6 0 6
Pheochromocytoma 1 0 1 2 2 0 6
Primary ciliary dyskinesia 11 0 0 2 2 2 0 6
Primary ciliary dyskinesia 27 0 0 1 2 3 0 6
Progressive familial heart block type IB 0 0 3 3 0 0 6
Progressive pseudorheumatoid dysplasia 0 0 0 4 2 0 6
Seizures, benign familial neonatal, 2 0 0 2 1 3 0 6
Wagner disease 0 0 3 1 2 0 6
X-linked intellectual disability, Cantagrel type 0 0 0 3 3 0 6
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 0 1 1 3 0 5
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 1 2 2 0 5
Autosomal recessive agammaglobulinemia 1 0 0 0 1 4 0 5
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 3 0 2 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 2 1 2 0 5
Autosomal recessive osteopetrosis 1 1 0 2 1 1 0 5
Christianson syndrome 0 0 0 0 5 0 5
Ciliary dyskinesia, primary, 42 0 0 2 2 1 0 5
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 1 1 3 0 5
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 0 2 0 3 0 5
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 0 0 5 0 0 5
Deficiency of guanidinoacetate methyltransferase 0 0 0 1 4 0 5
Developmental and epileptic encephalopathy, 4 0 0 0 3 2 0 5
Developmental and epileptic encephalopathy, 5 0 0 0 3 2 0 5
Diamond-Blackfan anemia 12 0 0 0 0 5 0 5
Epilepsy with myoclonic atonic seizures 1 0 0 1 3 0 5
Epilepsy, familial focal, with variable foci 3 0 1 0 3 1 0 5
Familial encephalopathy with neuroserpin inclusion bodies 0 0 0 2 3 0 5
Gamma-aminobutyric acid transaminase deficiency 0 0 2 1 2 0 5
Glycogen storage disease type X 0 0 1 3 1 0 5
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0 0 1 3 1 0 5
Hyperphosphatasia with intellectual disability syndrome 2 0 1 2 1 1 0 5
Hypertrophic cardiomyopathy 8 0 0 2 3 0 0 5
Kabuki syndrome 2 0 0 0 3 2 0 5
Kostmann syndrome 0 0 2 1 2 0 5
Metaphyseal chondrodysplasia, Schmid type 0 0 1 3 1 0 5
Neuropathy, hereditary sensory and autonomic, type 1A 0 0 3 2 0 0 5
PMM2-congenital disorder of glycosylation 3 2 0 0 0 0 5
Polyglucosan body myopathy type 1 0 0 2 2 1 0 5
Primary ciliary dyskinesia 33 0 0 2 1 2 0 5
Pulmonary hypertension, primary, 4 0 0 1 3 1 0 5
Pyridoxine-dependent epilepsy 1 0 0 2 2 0 5
RFT1-congenital disorder of glycosylation 0 0 2 3 0 0 5
Retinitis pigmentosa 11 0 0 2 0 3 0 5
Schneckenbecken dysplasia 0 0 1 4 0 0 5
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 2 1 2 0 5
Syndromic X-linked intellectual disability 94 0 0 0 1 4 0 5
Vitamin D-dependent rickets, type 1A 0 0 3 1 1 0 5
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 0 1 0 3 0 4
Adenosine kinase deficiency 0 0 0 2 2 0 4
Agammaglobulinemia 3, autosomal recessive 0 0 2 2 0 0 4
Angelman syndrome 0 1 1 0 2 0 4
Ariboflavinosis 0 0 2 0 2 0 4
Autosomal recessive nonsyndromic hearing loss 22 0 0 0 0 4 0 4
Charcot-Marie-Tooth disease type 2B 0 0 1 1 2 0 4
Chudley-McCullough syndrome 0 0 1 1 2 0 4
Cobalamin C disease 0 0 1 1 2 0 4
Cole-Carpenter syndrome 1 0 0 2 1 1 0 4
Combined oxidative phosphorylation defect type 27 0 0 1 2 1 0 4
Congenital disorder of glycosylation type 1E 0 0 2 0 2 0 4
Cowden syndrome 4 0 0 1 1 2 0 4
Cystinuria 1 0 0 0 3 0 4
Developmental and epileptic encephalopathy, 2 0 0 0 1 3 0 4
Developmental and epileptic encephalopathy, 26 0 0 0 1 3 0 4
Developmental and epileptic encephalopathy, 9 0 0 0 1 3 0 4
Diamond-Blackfan anemia 6 1 0 0 2 1 0 4
Dihydropteridine reductase deficiency 0 0 2 1 1 0 4
Ectodermal dysplasia and immunodeficiency 2 0 0 0 0 4 0 4
Emery-Dreifuss muscular dystrophy 1, X-linked 0 0 0 1 3 0 4
Epilepsy, early-onset, vitamin B6-dependent 0 0 0 2 2 0 4
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 0 2 2 0 4
Fanconi anemia complementation group J 0 0 3 1 0 0 4
Geroderma osteodysplastica 0 0 0 1 3 0 4
Glycine encephalopathy 2 0 0 2 1 1 0 4
Glycogen storage disease IXd 0 1 1 1 1 0 4
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 0 0 1 3 0 4
Holoprosencephaly 4 0 0 1 0 3 0 4
Hyper-IgM syndrome type 2 0 0 0 1 3 0 4
Imerslund-Grasbeck syndrome 0 0 1 0 3 0 4
Immunodeficiency 105 0 0 1 1 2 0 4
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 0 1 3 0 4
Intellectual disability, X-linked 49 0 0 1 0 3 0 4
Intellectual disability, autosomal dominant 56 0 1 1 1 1 0 4
Leber congenital amaurosis 5 0 0 4 0 0 0 4
Long QT syndrome 15 0 0 0 2 2 0 4
Lymphatic malformation 4 0 0 0 1 3 0 4
MPDU1-congenital disorder of glycosylation 0 0 2 2 0 0 4
Methylmalonic aciduria, cblB type 0 0 2 1 1 0 4
Mitochondrial DNA depletion syndrome 9 0 0 3 0 1 0 4
Mitochondrial complex I deficiency, nuclear type 5 0 0 0 1 3 0 4
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 3 0 4
Neuronal ceroid lipofuscinosis 13 0 0 0 0 4 0 4
Osteogenesis imperfecta type 14 0 0 1 2 1 0 4
Osteogenesis imperfecta type 5 1 0 0 1 2 0 4
Osteogenesis imperfecta type 9 0 0 0 2 2 0 4
Poikiloderma with neutropenia 0 0 1 0 3 0 4
Polycystic kidney disease 4 4 0 0 0 0 0 4
Progressive myoclonic epilepsy type 7 0 0 0 1 3 0 4
Pyruvate carboxylase deficiency 0 0 0 2 2 0 4
Pyruvate dehydrogenase E3 deficiency 0 0 0 0 4 0 4
Pyruvate dehydrogenase E3-binding protein deficiency 0 0 0 0 4 0 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 0 3 1 0 0 4
Retinitis pigmentosa 26 0 0 2 0 2 0 4
Retinitis pigmentosa 30 0 0 0 2 2 0 4
Rhabdomyolysis, susceptibility to, 1 0 0 0 0 4 0 4
SLC35A2-congenital disorder of glycosylation 0 0 1 2 1 0 4
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 0 2 2 0 0 4
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 1 0 2 0 4
Wilson-Turner syndrome 0 0 2 2 0 0 4
X-linked intellectual disability Cabezas type 0 0 0 0 4 0 4
X-linked lymphoproliferative disease due to XIAP deficiency 0 0 1 1 2 0 4
X-linked mixed hearing loss with perilymphatic gusher 0 0 0 1 3 0 4
Agammaglobulinemia 8, autosomal dominant 0 0 1 2 0 0 3
Aicardi-Goutieres syndrome 2 0 1 0 0 2 0 3
Amyotrophic lateral sclerosis, susceptibility to, 24 0 0 2 1 0 0 3
Autosomal recessive axonal neuropathy with neuromyotonia 0 0 1 1 1 0 3
Autosomal recessive early-onset Parkinson disease 6 0 0 0 0 3 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 35 0 0 1 1 1 0 3
Autosomal recessive nonsyndromic hearing loss 63 0 0 0 0 3 0 3
Bone mineral density quantitative trait locus 18 0 0 0 1 2 0 3
Borjeson-Forssman-Lehmann syndrome 0 0 0 0 3 0 3
Brugada syndrome 2 0 0 0 2 1 0 3
Brugada syndrome 6 0 0 1 1 1 0 3
Cerebral cavernous malformation 3 2 0 0 1 0 0 3
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 1 2 0 0 0 3
Combined immunodeficiency due to MALT1 deficiency 0 0 0 0 3 0 3
Congenital disorder of deglycosylation 2 0 1 2 0 0 0 3
Congenital dyserythropoietic anemia, type I 0 0 3 0 0 0 3
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 0 1 0 0 0 3
Congenital malabsorptive diarrhea 4 0 0 3 0 0 0 3
Deficiency of bisphosphoglycerate mutase 0 0 2 1 0 0 3
Developmental and epileptic encephalopathy 92 0 0 1 0 2 0 3
Developmental and epileptic encephalopathy, 39 0 0 0 2 1 0 3
Diamond-Blackfan anemia 7 0 0 0 0 3 0 3
Diamond-Blackfan anemia 9 0 1 0 0 2 0 3
Dilated cardiomyopathy 2B 0 0 0 2 1 0 3
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 0 0 0 3 0 3
Epilepsy, familial focal, with variable foci 1 0 1 0 2 0 0 3
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 0 2 1 0 3
Episodic ataxia type 1 0 0 1 1 1 0 3
Familial hemophagocytic lymphohistiocytosis type 1 0 1 0 1 1 0 3
GM3 synthase deficiency 0 0 1 1 1 0 3
Glycine encephalopathy 1 0 0 3 0 0 0 3
Hereditary fructosuria 1 0 0 2 0 0 3
Hereditary intrinsic factor deficiency 1 1 1 0 0 0 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 1 2 0 0 0 3
Hypertrophic cardiomyopathy 16 0 0 0 1 2 0 3
Hypogonadotropic hypogonadism 6 with or without anosmia 0 0 0 1 2 0 3
Immunodeficiency 14 0 0 1 2 0 0 3
Immunodeficiency, common variable, 5 0 0 1 0 2 0 3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 0 1 2 0 3
Intellectual developmental disorder, autosomal dominant 65 0 1 2 0 0 0 3
Intellectual disability, X-linked syndromic, Turner type 0 0 3 0 0 0 3
Intellectual disability, X-linked, syndromic, Houge type 0 0 0 1 2 0 3
Intellectual disability, autosomal recessive 3 0 0 3 0 0 0 3
Isovaleryl-CoA dehydrogenase deficiency 0 0 0 2 1 0 3
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 0 0 0 3 0 3
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 2 1 0 0 3
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 0 0 0 1 2 0 3
Methylmalonic acidemia due to transcobalamin receptor defect 0 0 1 0 2 0 3
Methylmalonic aciduria, cblA type 0 0 1 0 2 0 3
Microcephaly-capillary malformation syndrome 0 0 0 2 1 0 3
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 0 0 3 0 3
Mitochondrial complex I deficiency, nuclear type 6 0 0 1 0 2 0 3
Mitochondrial complex I deficiency, nuclear type 7 0 0 0 0 3 0 3
Myofibrillar myopathy 3 0 0 0 0 3 0 3
Nephronophthisis 16 0 0 0 0 3 0 3
Neuronal ceroid lipofuscinosis 10 0 0 1 1 1 0 3
Neuronopathy, distal hereditary motor, type 2C 0 0 3 0 0 0 3
O'Donnell-Luria-Rodan syndrome 0 1 2 0 0 0 3
Osteogenesis imperfecta type 12 0 0 0 2 1 0 3
Osteogenesis imperfecta type 17 0 0 0 1 2 0 3
Pontocerebellar hypoplasia type 6 0 0 1 0 2 0 3
Primary ciliary dyskinesia 16 0 0 2 0 1 0 3
Primary ciliary dyskinesia 21 0 0 2 1 0 0 3
Primary ciliary dyskinesia 26 0 0 1 1 1 0 3
Primary intraosseous venous malformation 0 0 0 1 2 0 3
Retinitis pigmentosa 31 0 0 2 0 1 0 3
Retinitis pigmentosa 49 0 0 0 2 1 0 3
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 2 0 0 3
Sulfite oxidase deficiency 0 0 1 1 1 0 3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 0 0 2 0 1 0 3
Usher syndrome type 1G 0 0 2 0 1 0 3
X-linked sideroblastic anemia with ataxia 0 0 0 0 3 0 3
Aicardi-Goutieres syndrome 3 0 0 2 0 0 0 2
Amelocerebrohypohidrotic syndrome 0 0 0 0 2 0 2
Autism, susceptibility to, 17 0 0 2 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 2A 0 0 0 0 2 0 2
Autosomal dominant nonsyndromic hearing loss 4B 0 0 2 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 5 0 0 1 0 1 0 2
Autosomal recessive nonsyndromic hearing loss 29 0 0 1 0 1 0 2
Autosomal recessive nonsyndromic hearing loss 6 0 0 1 0 1 0 2
Autosomal recessive nonsyndromic hearing loss 61 0 0 0 1 1 0 2
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 2 0 0 2
CODAS syndrome 0 0 2 0 0 0 2
CTCF-related neurodevelopmental disorder 0 1 1 0 0 0 2
Capillary malformation-arteriovenous malformation 1 2 0 0 0 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 1 0 0 0 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 0 0 0 2 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 1 1 0 0 2
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 0 1 1 0 2
Charcot-Marie-Tooth disease dominant intermediate C 0 0 1 1 0 0 2
Choroideremia 0 0 0 0 2 0 2
Chromosome 2q32-q33 deletion syndrome 0 0 1 1 0 0 2
Chédiak-Higashi syndrome 0 0 2 0 0 0 2
Coffin-Siris syndrome 1 2 0 0 0 0 0 2
Combined oxidative phosphorylation defect type 4 0 0 0 0 2 0 2
Combined oxidative phosphorylation deficiency 44 0 0 0 0 2 0 2
Congenital bile acid synthesis defect 5 0 0 0 1 1 0 2
Congenital generalized lipodystrophy type 4 0 0 2 0 0 0 2
Congenital myasthenic syndrome 18 1 0 0 0 1 0 2
Congenital myopathy 20 0 0 2 0 0 0 2
Constitutional megaloblastic anemia with severe neurologic disease 0 0 0 0 2 0 2
DYRK1A-related intellectual disability syndrome 0 0 0 0 2 0 2
Deficiency of iodide peroxidase 1 0 0 0 1 0 2
Developmental and epileptic encephalopathy, 3 0 0 0 0 2 0 2
Developmental and epileptic encephalopathy, 32 0 0 0 1 1 0 2
Developmental and epileptic encephalopathy, 38 0 0 1 0 1 0 2
Developmental and epileptic encephalopathy, 41 0 0 0 1 1 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 2 0 0 0 2
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 2 0 0 0 2
Diamond-Blackfan anemia 10 0 0 0 1 1 0 2
Diamond-Blackfan anemia 8 0 0 0 1 1 0 2
Distal arthrogryposis type 2B1 0 0 0 0 2 0 2
Distal arthrogryposis type 5D 1 1 0 0 0 0 2
Epilepsy, familial temporal lobe, 1 0 0 1 0 1 0 2
Episodic pain syndrome, familial, 2 0 0 2 0 0 0 2
FOXG1 disorder 0 1 0 0 1 0 2
FRAXE 0 0 2 0 0 0 2
Fanconi anemia complementation group T 0 0 0 0 2 0 2
Fetal hemoglobin quantitative trait locus 1 0 0 0 2 0 0 2
Generalized epilepsy with febrile seizures plus, type 9 0 0 0 1 1 0 2
Global developmental delay with or without impaired intellectual development 0 1 1 0 0 0 2
Glycogen storage disease IXc 0 0 0 2 0 0 2
Hermansky-Pudlak syndrome 1 2 0 0 0 0 0 2
Heterotaxy, visceral, 5, autosomal 0 0 1 0 1 0 2
Houge-Janssens syndrome 1 2 0 0 0 0 0 2
Hyperekplexia 1 0 0 2 0 0 0 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 0 1 0 1 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 0 2 0 0 0 2
Immunodeficiency 47 0 0 0 1 1 0 2
Immunodeficiency, common variable, 6 0 0 0 1 1 0 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 1 0 1 0 0 2
Intellectual developmental disorder with autism and macrocephaly 1 0 1 0 0 0 2
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 2 0 0 0 2
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 0 2 0 0 0 2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 5 0 0 0 0 2 0 2
Intellectual disability, autosomal recessive 13 0 0 2 0 0 0 2
Intellectual disability, autosomal recessive 65 0 1 1 0 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 1 0 0 0 2
Joubert syndrome 3 0 0 2 0 0 0 2
Lafora disease 0 0 2 0 0 0 2
Leber congenital amaurosis 9 0 0 0 1 1 0 2
Lissencephaly 10 0 0 0 1 1 0 2
Lymphoproliferative syndrome 2 0 0 1 0 1 0 2
Meier-Gorlin syndrome 3 0 2 0 0 0 0 2
Methylmalonic aciduria and homocystinuria type cblF 0 0 0 0 2 0 2
Microcephaly 3, primary, autosomal recessive 1 0 1 0 0 0 2
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 0 2 0 0 0 2
Mitochondrial DNA depletion syndrome 1 0 0 0 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 10 1 0 0 0 1 0 2
Mitochondrial complex I deficiency, nuclear type 11 0 0 0 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 15 0 0 0 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 16 0 0 0 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 8 0 0 0 0 2 0 2
Mitochondrial complex IV deficiency, nuclear type 14 0 0 2 0 0 0 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 0 0 0 2 0 2
Myasthenic syndrome, congenital, 24, presynaptic 0 0 2 0 0 0 2
Myopathy with abnormal lipid metabolism 0 0 1 1 0 0 2
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 0 0 1 1 0 2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 1 0 0 0 2
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 0 0 2 0 0 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 1 1 0 0 0 2
Neuronal ceroid lipofuscinosis 5 0 0 0 2 0 0 2
Pancreatic insufficiency-anemia-hyperostosis syndrome 0 0 0 1 1 0 2
Peroxisome biogenesis disorder 13A (Zellweger) 0 0 0 0 2 0 2
Primary ciliary dyskinesia 12 0 0 0 0 2 0 2
Primary ciliary dyskinesia 29 0 0 1 1 0 0 2
Primary hyperoxaluria, type I 1 0 0 0 1 0 2
Prostate cancer, hereditary, 9 0 1 0 0 1 0 2
Pyruvate dehydrogenase E2 deficiency 0 0 0 0 2 0 2
Retinitis pigmentosa 2 0 0 1 0 1 0 2
Retinitis pigmentosa 28 0 0 1 0 1 0 2
Retinitis pigmentosa 62 0 0 0 1 1 0 2
Retinitis pigmentosa 9 0 0 0 0 2 0 2
Schuurs-Hoeijmakers syndrome 0 0 0 1 1 0 2
Severe X-linked myotubular myopathy 0 1 1 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 30 0 0 2 0 0 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0 0 1 1 0 0 2
Temtamy syndrome 0 0 2 0 0 0 2
Trichohepatoenteric syndrome 1 0 1 0 1 0 0 2
X-linked Emery-Dreifuss muscular dystrophy 1 0 0 0 1 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 1 0 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 1 0 0 0 1
3-methylglutaconic aciduria type 9 0 0 1 0 0 0 1
ALG11-congenital disorder of glycosylation 0 0 1 0 0 0 1
ALG12-congenital disorder of glycosylation 1 0 0 0 0 0 1
ALG3-congenital disorder of glycosylation 0 0 1 0 0 0 1
Acetyl-CoA: carboxylase deficiency 0 0 1 0 0 0 1
Agammaglobulinemia 6, autosomal recessive 0 0 0 0 1 0 1
Alzahrani-Kuwahara syndrome 0 0 1 0 0 0 1
Amelogenesis imperfecta type 1G 0 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 12 0 0 1 0 0 0 1
Arginase deficiency 0 0 1 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 0 1
Aspartylglucosaminuria 1 0 0 0 0 0 1
Atrial fibrillation, familial, 14 0 0 0 0 1 0 1
Atrial septal defect 4 0 0 1 0 0 0 1
Atypical glycine encephalopathy 0 0 1 0 0 0 1
Au-Kline syndrome 0 1 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 1 0 0 0 1
Autosomal dominant auditory neuropathy 1 0 0 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 15 0 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 42 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 76 0 1 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 18 0 0 1 0 0 0 1
BAP1-related tumor predisposition syndrome 0 0 0 1 0 0 1
Beck-Fahrner syndrome 0 0 1 0 0 0 1
Birk-Barel syndrome 0 0 1 0 0 0 1
Brain malformations with or without urinary tract defects 0 1 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 0 0 0 1 0 0 1
CBL-related disorder 0 0 0 1 0 0 1
COG1 congenital disorder of glycosylation 0 0 1 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 0 1 0 0 0 1
Cardioacrofacial dysplasia 2 0 0 1 0 0 0 1
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 1 0 0 0 1
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 0 0 1 0 0 0 1
Cerebral folate transport deficiency 0 0 1 0 0 0 1
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 0 1 0 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 0 0 0 1 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 0 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 36, X-linked 0 0 0 1 0 0 1
Ciliary dyskinesia, primary, 40 1 0 0 0 0 0 1
Cocoon syndrome 0 0 1 0 0 0 1
Coffin-Siris syndrome 6 0 1 0 0 0 0 1
Colorectal cancer 0 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 20 0 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 56 0 0 1 0 0 0 1
Complement component 6 deficiency 0 1 0 0 0 0 1
Complement component 7 deficiency 0 1 0 0 0 0 1
Congenital bile acid synthesis defect 6 0 1 0 0 0 0 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 0 0 1 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 0 0 0 1
Congenital disorder of glycosylation type Ir 0 0 1 0 0 0 1
Congenital disorder of glycosylation, type IIq 0 0 0 1 0 0 1
Congenital heart defects, multiple types, 9 0 0 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 0 1
Cranioectodermal dysplasia 1 1 0 0 0 0 0 1
Creatine transporter deficiency 0 0 0 0 1 0 1
Cutis laxa, autosomal recessive, type 2E 0 0 1 0 0 0 1
Cystathioninuria 0 0 0 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 1 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 0 0 0 0 1 0 1
Developmental and epileptic encephalopathy 108 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 37 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 47 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 65 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 0 1 0 0 1
Developmental delay with hypotonia, myopathy, and brain abnormalities 0 1 0 0 0 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 1 0 0 0 1
Diamond-Blackfan anemia 11 0 0 0 1 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 0 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 0 0 1
Epilepsy, familial adult myoclonic, 5 0 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 0 0 1
Ethylmalonic encephalopathy 0 0 0 0 1 0 1
Familial Mediterranean fever 1 0 0 0 0 0 1
Familial infantile myoclonic epilepsy 1 0 0 0 0 0 1
Faundes-Banka syndrome 0 1 0 0 0 0 1
Fibrosis of extraocular muscles, congenital, 5 0 0 1 0 0 0 1
Fructose-biphosphatase deficiency 0 0 0 0 1 0 1
Genitourinary and/or brain malformation syndrome 0 0 1 0 0 0 1
Glutamate pyruvate transaminase 2 deficiency 0 0 1 0 0 0 1
Glycine encephalopathy 0 0 1 0 0 0 1
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 0 0 0 0 1 0 1
HSD10 mitochondrial disease 0 0 1 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 1 0 0 0 1
Heterotaxy, visceral, 6, autosomal 0 0 0 0 1 0 1
Heterotaxy, visceral, 7, autosomal 0 0 0 0 1 0 1
Houge-Janssens syndrome 2 1 0 0 0 0 0 1
Hydrocephalus, congenital communicating, 1 0 0 1 0 0 0 1
Hyper-IgM syndrome type 1 0 0 0 0 1 0 1
Hyperammonemia, type III 0 0 1 0 0 0 1
Hyperekplexia 3 0 1 0 0 0 0 1
Hyperekplexia 4 0 0 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy 10 0 0 0 0 1 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 0 1 0 0 0 0 1
Immunodeficiency 104 0 0 0 0 1 0 1
Immunodeficiency 97 with autoinflammation 0 0 0 0 1 0 1
Intellectual developmental disorder 62 0 0 0 0 1 0 1
Intellectual developmental disorder with autism and dysmorphic facies 0 0 1 0 0 0 1
Intellectual developmental disorder with autism and speech delay 0 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 66 0 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 72 0 0 0 1 0 0 1
Intellectual disability, X-linked 58 0 0 0 0 1 0 1
Intellectual disability, X-linked 97 0 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 50 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 0 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 0 1 0 0 0 1
Intellectual disability-strabismus syndrome 0 0 1 0 0 0 1
Interstitial lung disease due to ABCA3 deficiency 0 0 0 0 1 0 1
Iron-refractory iron deficiency anemia 0 0 1 0 0 0 1
Lathosterolosis 0 0 1 0 0 0 1
Leber congenital amaurosis 13 0 0 0 0 1 0 1
Leukocyte adhesion deficiency 1 0 0 1 0 0 0 1
Leukocyte adhesion deficiency type II 0 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 14 0 1 0 0 0 0 1
Li-Fraumeni syndrome 1 0 0 1 0 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 1 0 0 0 1
Major affective disorder 7 0 0 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 0 1 0 0 0 1
Maple syrup urine disease 0 0 0 0 1 0 1
Marfan syndrome 0 0 1 0 0 0 1
Marinesco-Sjögren syndrome 1 0 0 0 0 0 1
Maturity-onset diabetes of the young type 7 0 0 0 0 1 0 1
Meier-Gorlin syndrome 1 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 13 0 0 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 12 0 0 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 4 1 0 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 9 0 0 0 0 1 0 1
Mitochondrial complex III deficiency nuclear type 3 0 0 0 1 0 0 1
Mitochondrial complex IV deficiency, nuclear type 3 0 0 0 0 1 0 1
Mitochondrial complex IV deficiency, nuclear type 4 0 0 0 0 1 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 0 0 0 1 0 0 1
Moyamoya disease 2 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 0 0 0 1 0 1
Myasthenic syndrome, congenital, 22 0 0 0 0 1 0 1
Myoclonic epilepsy of Lafora 2 0 0 0 1 0 0 1
Myofibrillar myopathy 10 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 0 1 0 1
Neurodegeneration and seizures due to copper transport defect 0 0 1 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 0 0 1
Neurodevelopmental disorder with language delay and seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 0 0 1
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 1 0 0 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 1 0 0 0 0 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 7 0 0 1 0 0 0 1
Oculocutaneous albinism type 7 1 0 0 0 0 0 1
Oroticaciduria 0 0 1 0 0 0 1
Otitis media, susceptibility to 0 0 0 0 1 0 1
Otofaciocervical syndrome 2 0 0 1 0 0 0 1
Periventricular nodular heterotopia 8 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 12A (Zellweger) 0 0 0 0 1 0 1
Peroxisome biogenesis disorder 14B 0 0 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 2 0 0 0 0 1 0 1
Phytanic acid storage disease 0 0 0 0 1 0 1
Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 0 0 1 0 0 1
Pontocerebellar hypoplasia type 7 0 0 0 0 1 0 1
Preeclampsia/eclampsia 5 0 0 0 1 0 0 1
Progressive myoclonic epilepsy type 3 0 0 0 1 0 0 1
Properdin deficiency, X-linked 0 0 1 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 0 0 0 1 0 1
Pyridoxal phosphate-responsive seizures 0 1 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 1
Renal cell carcinoma, Xp11-associated 0 0 1 0 0 0 1
Retinal dystrophy with leukodystrophy 0 0 1 0 0 0 1
Retinitis pigmentosa 17 0 0 1 0 0 0 1
Retinitis pigmentosa 44 0 0 0 0 1 0 1
Retinitis pigmentosa 48 0 0 0 0 1 0 1
Retinitis pigmentosa 7 0 0 0 0 1 0 1
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 0 1 0 0 0 1
Sandhoff disease 1 0 0 0 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 1 0 0 0 0 1
Short-rib thoracic dysplasia 11 with or without polydactyly 0 0 1 0 0 0 1
Shukla-Vernon syndrome 0 0 1 0 0 0 1
Sjögren-Larsson syndrome 1 0 0 0 0 0 1
Smith-Magenis syndrome 0 0 1 0 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 0 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 0 1 0 0 0 1
Spermatogenic failure 67 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 29 0 0 1 0 0 0 1
Sponastrime dysplasia 0 0 1 0 0 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 0 1 0 0 1
Thrombocytopenia 4 0 0 0 0 1 0 1
Tooth agenesis, selective, 9 0 0 1 0 0 0 1
Tremor, hereditary essential, 5 0 0 0 0 1 0 1
Triokinase and FMN cyclase deficiency syndrome 0 0 1 0 0 0 1
X-linked Opitz G/BBB syndrome 0 0 0 0 1 0 1
X-linked progressive cerebellar ataxia 0 0 1 0 0 0 1
Yoon-Bellen neurodevelopmental syndrome 0 0 1 0 0 0 1
ZTTK syndrome 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.