ClinVar Miner

Variants from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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 drug response other not provided total
2482 2214 7803 6324 7171 58 1 73 26120

Gene and significance breakdown #

Total genes and gene combinations: 1953
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
TTN 8 145 1117 767 477 0 0 2 2515
USH2A 84 28 163 194 146 0 0 1 616
MYBPC3 180 41 223 118 24 0 0 0 586
ADGRV1 25 3 146 178 142 0 0 0 494
CDH23 22 11 186 149 116 0 0 1 485
MYH7 39 82 207 94 25 0 0 0 447
MYO7A 62 49 140 114 72 0 0 0 437
MYO15A 28 21 117 113 69 0 0 0 348
RYR2 2 3 119 108 77 0 0 2 311
BRCA2 173 51 36 18 22 0 0 0 300
DSP 4 49 120 79 47 0 0 0 299
OTOG 4 20 70 113 86 0 0 1 294
FBN1 60 99 69 25 29 0 0 2 284
OTOF 12 16 85 99 65 0 0 1 278
LOXHD1 7 4 120 90 54 0 0 1 276
PCDH15 10 2 89 72 77 0 0 1 251
WFS1 12 3 83 62 66 0 0 0 226
SCN5A 8 17 78 61 30 0 0 0 194
PKP2 21 42 52 44 19 0 0 0 178
LDLR 75 69 19 4 9 0 0 0 176
MYH14 0 0 61 60 54 0 0 0 175
MYH9 1 0 45 86 43 0 0 0 175
TBCEL-TECTA, TECTA 3 11 73 53 34 0 0 0 174
OTOGL 7 16 48 38 61 0 0 0 170
MYH6 0 0 75 52 37 0 0 2 166
SLC26A4 42 19 53 29 18 0 0 0 161
COL11A2 0 3 59 47 47 0 0 0 156
LAMA4 0 0 50 59 38 0 0 3 150
BRCA1 85 22 16 11 12 0 0 0 146
EGFR 8 9 48 22 5 53 0 2 145
RBM20 2 4 58 58 22 0 0 0 144
USH1C 2 0 60 42 38 0 0 0 142
MUC5B 1 0 6 33 101 0 0 0 141
TRIOBP 3 5 38 61 30 0 0 0 137
ALMS1 0 3 31 42 56 0 0 0 132
LMNA 18 28 43 29 9 0 0 1 128
MYO3A 0 7 40 38 43 0 0 0 128
MSH6 43 29 38 6 7 0 0 1 124
TNNT2 12 21 59 19 11 0 0 0 122
GJB2 45 20 24 19 13 0 0 0 121
LDB3 0 0 55 42 23 0 0 1 121
KCNQ1 14 25 31 33 17 0 0 0 120
PTPN11 62 12 19 21 5 0 0 0 119
STRC 24 7 42 27 19 0 0 0 119
ACTN2 1 0 48 44 24 0 0 0 117
DSG2 2 8 48 37 20 0 0 1 116
WHRN 2 0 38 42 30 0 0 0 112
SOS1 19 9 44 20 18 0 0 0 110
DMD 1 0 33 28 46 0 0 0 108
MYO6 4 9 43 30 21 0 0 1 108
DNAH11 6 1 14 17 69 0 0 0 107
DNAH5 2 6 18 16 65 0 0 0 107
MYOM1 0 0 23 31 52 0 0 0 106
NEBL 0 0 38 41 25 0 0 2 106
BRAF 29 26 14 24 7 0 0 1 101
TPM1 3 18 48 23 7 0 0 1 100
APC 15 8 53 10 13 0 0 0 99
VCL 0 6 38 32 22 0 0 0 98
RYR1 15 26 21 2 33 0 0 0 97
CACNA1D 0 0 33 36 24 0 0 0 93
RAF1 12 9 31 28 12 0 0 0 92
DSC2 0 2 50 26 13 0 0 0 91
TNNI3 10 18 36 18 8 0 0 0 90
PMS2 31 29 19 1 9 0 0 0 89
ATP7B 42 41 3 2 0 0 0 0 88
NF1 9 5 19 20 33 0 0 0 86
TMC1 12 5 39 20 7 0 0 2 85
PRDM16 0 0 22 27 34 0 0 0 83
ABCC9 0 0 29 33 19 0 0 1 82
PRKAG2 2 4 34 29 12 0 0 1 82
JUP 0 2 29 32 17 0 0 0 80
TMPRSS3 8 6 25 21 20 0 0 0 80
DES 3 11 25 16 20 0 0 0 75
LAMP2 11 13 26 19 5 0 0 1 75
EDA 41 12 18 0 3 0 0 0 74
PLEC 0 0 5 4 64 0 0 0 73
MAP2K2 0 3 22 32 15 0 0 0 72
MSH2 18 15 28 4 6 0 0 0 71
MYPN 0 0 21 23 27 0 0 0 71
ACTG1 0 3 9 38 20 0 0 0 70
COL4A4 0 0 13 15 39 0 0 0 67
POLE 0 0 56 2 9 0 0 0 67
CHD7 2 1 12 22 29 0 0 0 66
MLH1 20 7 25 5 9 0 0 0 66
OTOA 9 1 20 20 15 0 0 1 66
TBC1D24 0 1 21 26 18 0 0 0 66
BAG3 2 6 23 20 14 0 0 0 65
ILDR1 1 2 28 21 13 0 0 0 65
KCNQ4 3 2 27 19 14 0 0 0 65
LOC126861898, MYH7 5 21 27 10 2 0 0 0 65
DIAPH1 1 0 18 27 17 0 0 0 63
NEXN 0 0 40 19 4 0 0 0 63
EYA1 12 3 18 15 13 0 0 0 61
MT-RNR1 0 1 9 28 23 0 0 0 61
KRAS 23 11 9 13 4 0 0 0 60
TJP2 0 0 15 17 28 0 0 0 60
LARS2 1 2 10 24 21 0 0 0 58
TSC2 13 3 8 13 20 0 0 0 57
MYLK2 0 0 19 25 12 0 0 0 56
C10orf105, CDH23 4 0 23 11 17 0 0 0 55
ESRRB 0 6 18 19 12 0 0 0 55
PDZD7 0 2 21 13 19 0 0 0 55
TSPEAR 0 0 21 18 16 0 0 0 55
TMEM43 1 0 25 12 16 0 0 0 54
TP53 18 15 14 5 2 0 0 0 54
CBL 4 3 21 16 10 0 0 0 53
CFTR 12 5 10 7 17 0 0 2 53
COL4A3, MFF-DT 0 0 7 16 30 0 0 0 53
TRDN 0 4 12 11 24 0 0 0 51
APOB 3 6 17 14 10 0 0 0 50
CASQ2 0 2 22 16 10 0 0 0 50
NEB 0 5 2 11 32 0 0 0 50
GIPC3 2 2 14 24 7 0 0 0 49
GLA, RPL36A-HNRNPH2 5 7 18 13 5 0 0 1 49
MYL2 2 5 24 15 3 0 0 0 49
MYO1A 0 0 12 23 13 0 0 1 49
MUTYH 16 6 20 0 5 0 0 0 47
ACTC1, GJD2-DT 1 4 26 13 2 0 0 0 46
KCNH2 4 18 18 1 5 0 0 0 46
ATP6V1B1 1 0 17 11 16 0 0 0 45
DTNA 0 0 12 19 14 0 0 0 45
ELN 21 5 6 5 8 0 0 0 45
RET 8 0 16 5 16 0 0 0 45
SGCD 0 2 11 9 14 0 0 9 45
DOCK8 0 0 5 5 34 0 0 0 44
MAP2K1 4 6 12 15 7 0 0 0 44
TMPO 0 0 16 13 15 0 0 0 44
CCDC40 2 0 4 6 31 0 0 0 43
GSDME 1 1 12 14 15 0 0 0 43
HRAS, LRRC56 7 5 12 11 5 0 0 2 42
MARVELD2 2 1 16 17 6 0 0 0 42
MITF 7 0 17 12 6 0 0 0 42
HSD17B4 0 1 9 14 17 0 0 0 41
LOC126861897, MHRT, MYH7 2 1 24 10 4 0 0 0 41
CEACAM16 0 1 7 16 16 0 0 0 40
SERPINB6 0 1 11 22 6 0 0 0 40
CSRP3 0 0 23 6 5 0 0 4 38
TGFBR2 4 5 17 5 7 0 0 0 38
GPSM2 4 1 10 12 10 0 0 0 37
MYL3 0 2 22 10 2 0 0 1 37
USH1G 0 1 22 10 4 0 0 0 37
CCDC50 0 0 10 8 18 0 0 0 36
RIPOR2 0 0 4 8 24 0 0 0 36
BSND 0 0 12 16 7 0 0 0 35
LTBP4 1 0 7 5 21 0 0 1 35
NLRP3 0 0 5 13 17 0 0 0 35
EYA4 1 3 16 9 6 0 0 0 34
LOC126806432, TTN 0 0 16 12 6 0 0 0 34
MHRT, MYH7 1 2 19 8 4 0 0 0 34
MYLK 0 0 4 3 27 0 0 0 34
SYNE4 0 2 8 13 11 0 0 0 34
ABCA3 1 3 8 8 13 0 0 0 33
ESPN 0 2 12 13 6 0 0 0 33
LOC101927055, TTN 0 3 12 5 13 0 0 0 33
P2RX2 0 0 9 9 15 0 0 0 33
RDX 1 1 16 13 2 0 0 0 33
SLC52A3 0 0 5 11 17 0 0 0 33
COL3A1 2 16 2 2 10 0 0 0 32
GRHL2 0 0 11 12 9 0 0 0 32
LOC110121269, SCN5A 0 5 15 6 6 0 0 0 32
JPH2 0 0 10 8 13 0 0 0 31
KCNE1 1 2 17 7 4 0 0 0 31
LOC126806425, TTN 0 1 19 6 5 0 0 0 31
TSC1 11 2 3 5 10 0 0 0 31
DNAH17 0 1 0 2 27 0 0 0 30
LOC126806422, TTN 0 1 15 9 5 0 0 0 30
MYOZ2 0 0 11 11 7 0 0 1 30
HGF 0 0 12 11 5 0 0 1 29
ANKRD1 0 0 12 10 6 0 0 0 28
GRXCR1 1 1 9 10 6 0 0 1 28
LOC126806430, TTN 0 0 9 13 6 0 0 0 28
TERT 0 1 9 7 11 0 0 0 28
DNAAF1 0 0 4 3 20 0 0 0 27
LOC126806423, TTN 0 1 13 9 4 0 0 0 27
LOC126806424, TTN 0 1 14 7 5 0 0 0 27
PAX3 4 1 7 5 10 0 0 0 27
SDHB 5 10 6 2 4 0 0 0 27
DYSF 0 2 2 0 22 0 0 0 26
EPS8 0 0 4 10 12 0 0 0 26
LOC126806421, TTN 0 1 12 9 4 0 0 0 26
TTR 5 2 6 5 8 0 0 0 26
DNAH14 0 0 1 1 23 0 0 0 25
HNF1A 6 5 7 5 2 0 0 0 25
KARS1 0 0 7 9 9 0 0 0 25
LOC126806427, TTN 0 1 7 8 9 0 0 0 25
RPGR 0 0 2 2 21 0 0 0 25
TNNC1 0 1 14 10 0 0 0 0 25
BRCA1, LOC126862571 17 0 4 2 1 0 0 0 24
CEP78 0 1 6 6 11 0 0 0 24
COCH 2 0 5 7 10 0 0 0 24
COL4A5 0 1 2 8 13 0 0 0 24
EDNRB 1 0 6 7 10 0 0 0 24
FLNC 1 0 4 0 19 0 0 0 24
LOC114827851, MYH6 0 0 9 5 10 0 0 0 24
PJVK 1 0 10 7 6 0 0 0 24
POLR2F, SOX10 2 2 6 9 5 0 0 0 24
TAFAZZIN 4 7 8 2 3 0 0 0 24
TGFBR1 3 0 11 7 3 0 0 0 24
C2orf49, FHL2 0 0 9 6 8 0 0 0 23
LOC126861365, TBCEL-TECTA, TECTA 0 1 10 9 3 0 0 0 23
LOC126861896, MYH6 0 0 7 7 9 0 0 0 23
PAH 19 4 0 0 0 0 0 0 23
POU3F4 3 4 7 6 3 0 0 0 23
SLITRK6 0 0 7 7 9 0 0 0 23
TMIE 0 2 9 8 4 0 0 0 23
TPRN 1 2 6 9 5 0 0 0 23
CDC14A 0 1 5 5 11 0 0 0 22
CLIC5 0 0 2 11 9 0 0 0 22
FBN2 0 0 2 1 19 0 0 0 22
GJB3 0 0 6 6 10 0 0 0 22
POLD1 0 0 20 1 1 0 0 0 22
TCAP 0 1 11 5 5 0 0 0 22
ADCY1 0 0 4 7 10 0 0 0 21
CBS 6 7 0 1 7 0 0 0 21
CLDN14 0 0 6 7 8 0 0 0 21
HARS2 0 1 9 8 3 0 0 0 21
SPINK5 0 1 2 0 18 0 0 0 21
GCK 7 9 0 1 3 0 0 0 20
SPRED1 1 1 4 7 7 0 0 0 20
ABCC9, KCNJ8 0 0 10 7 2 0 0 0 19
AP3B1 0 0 2 1 16 0 0 0 19
CAVIN4 0 0 4 8 7 0 0 0 19
CLRN1 4 1 4 5 5 0 0 0 19
CSF2RB 0 0 4 1 14 0 0 0 19
DOLK 0 0 5 9 5 0 0 0 19
EMD 2 1 7 6 3 0 0 0 19
MSRB3 0 1 2 8 8 0 0 0 19
PTEN 9 5 2 1 2 0 0 0 19
SFTPA1 0 0 7 3 9 0 0 0 19
GAA 12 5 0 0 1 0 0 0 18
HBB, LOC106099062, LOC107133510 17 1 0 0 0 0 0 0 18
LOC126806420, TTN 0 3 3 6 6 0 0 0 18
CAV3, OXTR 0 1 0 11 5 0 0 0 17
CLPP 0 0 2 9 6 0 0 0 17
DNAH6 0 0 0 1 16 0 0 0 17
DNAI1 2 0 4 2 9 0 0 0 17
DNAI2 1 1 1 3 11 0 0 0 17
DYNC2H1 0 1 0 0 16 0 0 0 17
ENG 1 0 3 3 10 0 0 0 17
LOC126806428, TTN 0 0 5 6 6 0 0 0 17
LOC126806431, TTN 0 0 7 8 2 0 0 0 17
MC4R 5 11 1 0 0 0 0 0 17
MYH11 0 0 4 2 11 0 0 0 17
PDLIM3 0 0 5 2 10 0 0 0 17
POU4F3, RBM27-POU4F3 0 0 8 3 6 0 0 0 17
ABCA4 7 5 2 0 2 0 0 0 16
CSF2RA 0 0 0 4 12 0 0 0 16
DNAAF2 0 2 5 2 7 0 0 0 16
DNAH10 0 0 1 1 14 0 0 0 16
DNAH8 0 0 1 1 14 0 0 0 16
HPS1 1 0 1 2 12 0 0 0 16
MYH11, NDE1 0 0 2 1 13 0 0 0 16
S1PR2 0 0 2 6 8 0 0 0 16
SCNN1A 0 1 3 3 9 0 0 0 16
SERPINA1 2 3 2 2 7 0 0 0 16
SLC26A5 0 0 1 7 6 0 0 2 16
CCDC39 0 0 4 3 8 0 0 0 15
CRYAB 0 2 6 4 3 0 0 0 15
DNAH2 0 0 1 3 11 0 0 0 15
DNAH9 0 0 0 0 15 0 0 0 15
GJB6 1 0 5 4 5 0 0 0 15
HPS4 0 1 0 3 11 0 0 0 15
LDB3, LOC110121486 1 0 2 8 4 0 0 0 15
LHFPL5 0 1 10 4 0 0 0 0 15
LOC107303340, VHL 8 3 3 1 0 0 0 0 15
LOC126806429, TTN 0 0 2 9 4 0 0 0 15
LOC129935183, TTN 0 1 6 3 5 0 0 0 15
MEN1 4 1 6 0 4 0 0 0 15
NME8 0 0 0 2 13 0 0 0 15
POMT1 1 2 1 1 10 0 0 0 15
RSPH4A 0 0 2 4 9 0 0 0 15
RTEL1, RTEL1-TNFRSF6B 1 2 3 2 7 0 0 0 15
VHL 6 3 3 1 2 0 0 0 15
DNAH1 0 1 4 1 8 0 0 0 14
DNAH12 0 0 0 0 14 0 0 0 14
ERBB2 1 9 2 1 0 0 0 1 14
EYA4, TARID 0 1 5 6 2 0 0 0 14
JAG1 1 0 1 0 12 0 0 0 14
LOC126806433, TTN 0 0 6 6 2 0 0 0 14
NPC1 4 3 1 1 5 0 0 0 14
PALB2 5 6 2 1 0 0 0 0 14
RIT1 5 2 3 1 3 0 0 0 14
SLC17A8 0 0 6 1 7 0 0 0 14
SLC52A2 1 0 0 10 3 0 0 0 14
SPEF2 0 0 3 0 11 0 0 0 14
CEP85L, PLN 3 0 7 2 1 0 0 0 13
CLCNKB, LOC106501713 0 0 0 1 12 0 0 0 13
DNAH7 0 0 0 2 11 0 0 0 13
HARS1 0 0 4 4 5 0 0 0 13
LOC122152296, USH2A 3 0 4 2 4 0 0 0 13
LRTOMT, TOMT 1 1 4 7 0 0 0 0 13
PIK3CA 8 2 2 1 0 0 0 0 13
VWF 2 8 1 0 2 0 0 0 13
BRIP1 2 6 1 0 3 0 0 0 12
CIB2 1 0 2 4 5 0 0 0 12
CIITA 1 1 0 0 10 0 0 0 12
CTF1, LOC130058878 0 0 7 4 1 0 0 0 12
GATAD1 0 0 3 6 3 0 0 0 12
HPS5 0 0 0 2 10 0 0 0 12
LMNA, LOC126805877 1 4 4 1 2 0 0 0 12
LOC112840921, OTOF 0 0 4 5 3 0 0 0 12
LOC114827850, MYL2 1 1 6 2 2 0 0 0 12
LOC126806068, RYR2 0 1 2 8 1 0 0 0 12
LOC126863145, TRIOBP 0 0 3 6 3 0 0 0 12
MYO5B 0 1 0 0 11 0 0 0 12
NEB, RIF1 0 2 2 0 8 0 0 0 12
OSBPL2 0 0 1 2 9 0 0 0 12
PIGN 0 2 0 0 10 0 0 0 12
SCNN1B 0 0 1 4 7 0 0 0 12
SDHD 3 1 3 1 4 0 0 0 12
SFTPB 0 0 1 3 8 0 0 0 12
SFTPD 0 0 1 1 10 0 0 0 12
ACVRL1 1 3 2 1 4 0 0 0 11
ATM 3 3 0 0 5 0 0 0 11
CABP2 0 0 3 5 3 0 0 0 11
CACNB2 0 0 11 0 0 0 0 0 11
CRYM 0 0 3 3 5 0 0 0 11
EDN3 0 0 2 5 4 0 0 0 11
ILK, TAF10 0 0 4 4 3 0 0 0 11
KRAS, LOC130007561 0 0 2 8 1 0 0 0 11
LOC126806426, TTN 0 1 6 2 2 0 0 0 11
PCSK9 2 2 5 0 2 0 0 0 11
SCNN1G 0 1 0 1 9 0 0 0 11
TAP2 0 0 0 0 11 0 0 0 11
BCS1L 0 1 2 2 5 0 0 0 10
C5 1 1 0 0 8 0 0 0 10
CACNA1S 0 3 7 0 0 0 0 0 10
CHRM2, LOC349160 0 0 3 4 3 0 0 0 10
DNAAF3 0 0 0 0 10 0 0 0 10
FLCN 0 3 0 1 6 0 0 0 10
HPS3 1 0 0 2 7 0 0 0 10
IGHMBP2 2 1 0 1 6 0 0 0 10
LOC123956210, SLC26A4 3 2 2 1 2 0 0 0 10
LOC126806067, RYR2 0 0 2 7 1 0 0 0 10
LOC126863137, MYH9 0 0 2 7 1 0 0 0 10
NRAS 4 0 2 4 0 0 0 0 10
RB1 2 2 2 2 2 0 0 0 10
SFTPA2 0 0 1 1 8 0 0 0 10
DRC1 0 0 1 0 8 0 0 0 9
DTNBP1 0 0 0 2 7 0 0 0 9
EIF2AK4 0 1 0 0 8 0 0 0 9
FAT4 0 1 0 1 7 0 0 0 9
HNF4A 1 2 1 3 2 0 0 0 9
LRBA 0 1 0 1 7 0 0 0 9
MT-TS1 1 0 3 3 2 0 0 0 9
PLCG2 0 0 0 0 9 0 0 0 9
SDHC 2 3 2 0 2 0 0 0 9
SELENON 3 0 0 0 6 0 0 0 9
ULK4 0 0 0 0 9 0 0 0 9
ACTA2 3 2 3 0 0 0 0 0 8
ANAPC15, LRTOMT, TOMT 0 0 5 2 1 0 0 0 8
ANO5 2 1 0 0 5 0 0 0 8
ASCL1, PAH 0 0 2 4 2 0 0 0 8
BTD 6 1 0 1 0 0 0 0 8
DNAH3 0 0 0 3 5 0 0 0 8
DSC2, DSCAS 0 0 2 0 1 0 0 5 8
ERCC2 2 1 1 0 4 0 0 0 8
HIVEP3 0 0 0 0 8 0 0 0 8
IL12RB1 0 1 0 0 7 0 0 0 8
LAMA3 0 0 0 0 8 0 0 0 8
LOC126805765, NEXN 0 0 5 2 1 0 0 0 8
LOC127814297, POU4F3 0 1 4 3 0 0 0 0 8
LYST 0 0 0 1 7 0 0 0 8
MEGF10 0 0 0 0 8 0 0 0 8
NBN 1 1 0 1 5 0 0 0 8
OCA2 3 3 0 2 0 0 0 0 8
POLG 2 2 1 3 0 0 0 0 8
SETX 0 0 0 0 8 0 0 0 8
SGCG 2 0 0 0 6 0 0 0 8
SHOC2 1 0 1 5 1 0 0 0 8
SLC2A10 2 2 1 1 2 0 0 0 8
SLC5A1 0 0 0 0 8 0 0 0 8
STK11 0 0 7 1 0 0 0 0 8
VPS13C 0 8 0 0 0 0 0 0 8
ACADVL 4 2 0 0 1 0 0 0 7
ALK 0 0 0 0 7 0 0 0 7
ALPK3 0 4 1 0 2 0 0 0 7
APTX 1 2 0 1 3 0 0 0 7
BCL9L 0 0 0 0 7 0 0 0 7
BIN1 0 0 0 0 7 0 0 0 7
BLM 3 0 0 0 4 0 0 0 7
CAV3 0 0 1 3 2 0 0 1 7
CCDST, FLG 3 0 0 0 4 0 0 0 7
CHAT 0 1 0 0 6 0 0 0 7
DHCR7 2 1 0 0 4 0 0 0 7
FBN1, LOC126862124 1 3 1 2 0 0 0 0 7
FHL2 0 0 3 3 1 0 0 0 7
GATA4 0 0 1 1 5 0 0 0 7
GATAD1, LOC129998793 0 0 3 3 1 0 0 0 7
HYDIN 0 0 0 0 7 0 0 0 7
KCNQ1, KCNQ1OT1 0 1 2 2 2 0 0 0 7
KITLG 0 0 1 3 3 0 0 0 7
LIG1 0 0 0 0 7 0 0 0 7
LZTR1 0 1 2 0 4 0 0 0 7
MMUT 3 1 0 0 3 0 0 0 7
MUC4 0 0 1 0 6 0 0 0 7
NKX2-5 0 2 2 1 2 0 0 0 7
PKD1, TSC2 0 0 0 2 5 0 0 0 7
RTTN 0 0 0 0 7 0 0 0 7
SKI 0 0 1 2 4 0 0 0 7
SMAD3 0 5 0 0 2 0 0 0 7
SMAD9 0 0 2 3 2 0 0 0 7
SP110, SP140 0 1 0 0 6 0 0 0 7
ACADM 3 2 0 0 1 0 0 0 6
ACTA1 1 0 0 0 5 0 0 0 6
ADA 0 2 1 0 3 0 0 0 6
APOL1 5 0 0 0 1 0 0 0 6
ASAH1 0 1 0 0 5 0 0 0 6
ATM, C11orf65 2 3 0 1 0 0 0 0 6
BCLAF1 0 0 1 0 5 0 0 0 6
BLOC1S3 0 0 1 1 4 0 0 0 6
C6 2 1 1 0 2 0 0 0 6
CCDC39, TTC14 0 0 1 1 4 0 0 0 6
CCP110 0 0 0 0 6 0 0 0 6
CDH23, LOC111982869 2 1 1 1 1 0 0 0 6
CR2 0 0 1 0 5 0 0 0 6
CTF1 0 0 3 2 1 0 0 0 6
CUBN 1 2 1 0 2 0 0 0 6
CYP11B2, LOC106799834 0 1 0 0 5 0 0 0 6
CYP1B1 3 0 3 0 0 0 0 0 6
DIABLO 0 0 4 1 1 0 0 0 6
DRC2 0 1 0 0 5 0 0 0 6
EDAR, RANBP2 3 0 0 0 3 0 0 0 6
F8 0 4 1 0 1 0 0 0 6
FBLN5 0 0 2 0 4 0 0 0 6
FBN1, LOC113939944 4 0 1 0 1 0 0 0 6
FCGR2A 0 0 0 0 6 0 0 0 6
FCGR3A 0 0 1 1 4 0 0 0 6
FPR1 0 0 0 0 6 0 0 0 6
GCDH 3 2 0 0 1 0 0 0 6
HBA1, LOC106804613 3 3 0 0 0 0 0 0 6
HBA2, LOC106804612 5 1 0 0 0 0 0 0 6
IL7R 1 0 0 0 5 0 0 0 6
ITGB2 0 0 0 0 6 0 0 0 6
KCNN3 0 0 1 0 5 0 0 0 6
KIF27 0 0 0 0 6 0 0 0 6
LOC110011216, PHOX2B 2 0 0 1 3 0 0 0 6
LOC126653398, TSPEAR 0 0 2 2 2 0 0 0 6
LOC126806529, PAX3 1 0 0 4 1 0 0 0 6
LOC126861897, MYH7 0 0 5 1 0 0 0 0 6
LOC129999660, PRKAG2 0 0 3 3 0 0 0 0 6
LRIG1 0 0 0 0 6 0 0 0 6
NOD2 0 0 1 0 5 0 0 0 6
NPC1L1 0 0 1 1 4 0 0 0 6
PKHD1 3 0 0 1 2 0 0 0 6
RPGRIP1L 0 4 0 1 1 0 0 0 6
RSPH1 0 1 0 0 5 0 0 0 6
SCN1B 0 1 4 0 1 0 0 0 6
SHROOM3 0 0 0 0 6 0 0 0 6
SLC12A3 2 0 1 1 2 0 0 0 6
SP110 0 0 0 0 6 0 0 0 6
TNFRSF13B 0 0 1 1 4 0 0 0 6
TYR 4 2 0 0 0 0 0 0 6
UNC13D 0 0 1 1 4 0 0 0 6
WT1 2 0 4 0 0 0 0 0 6
ABCC6 2 0 3 0 0 0 0 0 5
ADA2 0 0 0 0 5 0 0 0 5
AHNAK2 0 0 0 0 5 0 0 0 5
ALMS1, LOC126806252 0 0 0 2 3 0 0 0 5
BDNF 0 0 1 0 4 0 0 0 5
BMPR1A 0 0 5 0 0 0 0 0 5
BMPR2 1 1 0 0 3 0 0 0 5
BPI 0 0 0 0 5 0 0 0 5
C8A 0 0 0 0 5 0 0 0 5
CAPN3 1 0 0 0 4 0 0 0 5
CFTR, LOC111674472 2 0 1 1 1 0 0 0 5
CLCC1, GPSM2 0 0 1 1 3 0 0 0 5
COCH, LOC100506071 0 1 1 2 1 0 0 0 5
COG6 0 0 0 0 5 0 0 0 5
COL7A1 1 3 1 0 0 0 0 0 5
CTNS 2 0 0 0 3 0 0 0 5
CTSC 0 1 0 0 4 0 0 0 5
DNAAF19 1 1 0 0 3 0 0 0 5
DNAAF4, DNAAF4-CCPG1 0 1 0 0 4 0 0 0 5
DNAH11, LOC126859961 0 0 0 0 5 0 0 0 5
DNAL1 0 1 1 2 1 0 0 0 5
DUOX2 2 3 0 0 0 0 0 0 5
DYNC1H1 0 0 0 0 5 0 0 0 5
EFEMP2 0 1 0 1 3 0 0 0 5
EPCAM 1 1 1 0 2 0 0 0 5
EPG5 1 0 0 0 4 0 0 0 5
F12 1 0 0 1 3 0 0 0 5
F5 1 3 0 1 0 0 0 0 5
FOXN1 0 0 0 0 5 0 0 0 5
GALNS 2 3 0 0 0 0 0 0 5
GPD1L 0 0 4 0 1 0 0 0 5
HFE 1 1 2 0 1 0 0 0 5
HGD 3 2 0 0 0 0 0 0 5
HPS6 0 0 1 3 1 0 0 0 5
IL17RA 0 1 0 0 4 0 0 0 5
KAT6B 0 0 2 0 3 0 0 0 5
KMT2C 1 0 0 1 3 0 0 0 5
LOC126861538, MYO1A 0 0 2 3 0 0 0 0 5
LOC126862264, MEFV 4 0 1 0 0 0 0 0 5
LOC129933535, SOS1 0 0 1 4 0 0 0 0 5
LOC129935182, TTN 1 1 3 0 0 0 0 0 5
LRRC51, LRTOMT 0 1 1 0 3 0 0 0 5
MAN2B1 1 1 0 0 3 0 0 0 5
MICA 0 0 0 0 5 0 0 0 5
MMP1 0 0 0 0 5 0 0 0 5
MMP3 0 0 0 0 5 0 0 0 5
NLRP12 0 0 0 0 5 0 0 0 5
NOS3 0 0 0 0 5 0 0 0 5
NOTCH1 0 0 4 0 1 0 0 0 5
ODAD1 0 0 0 0 5 0 0 0 5
OTC 0 2 1 1 1 0 0 0 5
PALLD 0 0 0 0 5 0 0 0 5
PNP 0 1 0 0 4 0 0 0 5
PRKCD 0 0 0 0 5 0 0 0 5
PRPS1 0 0 0 3 2 0 0 0 5
PXDNL 0 0 0 0 5 0 0 0 5
PYGM 2 3 0 0 0 0 0 0 5
RNASEH2A 0 1 0 0 4 0 0 0 5
RSPH9 0 0 1 2 2 0 0 0 5
SACS 2 3 0 0 0 0 0 0 5
SDHAF2 0 1 4 0 0 0 0 0 5
SFTPC 0 0 0 1 4 0 0 0 5
SIX1 0 0 1 2 2 0 0 0 5
SLC22A12 1 0 0 0 4 0 0 0 5
SLC26A9 0 0 0 0 5 0 0 0 5
SLC39A4 0 0 0 1 4 0 0 0 5
SMPD1 0 1 1 0 3 0 0 0 5
SPG7 4 0 0 0 1 0 0 0 5
STXBP2 0 0 0 2 3 0 0 0 5
TCIRG1 1 1 0 0 3 0 0 0 5
THBS1 0 0 0 0 5 0 0 0 5
TNNT1 0 0 0 0 5 0 0 0 5
TRNT1 0 0 0 0 5 0 0 0 5
TTLL1 0 0 0 0 5 0 0 0 5
VPS13B 1 1 0 1 2 0 0 0 5
ACTG1, LOC130061940 0 0 0 4 0 0 0 0 4
ADAMTS13 1 1 0 1 1 0 0 0 4
AGL 1 2 0 1 0 0 0 0 4
AK5 0 0 0 0 4 0 0 0 4
AK7 0 0 0 0 4 0 0 0 4
ALPL 0 2 0 0 2 0 0 0 4
AQP7 0 0 0 0 4 0 0 0 4
ASPA, SPATA22 2 2 0 0 0 0 0 0 4
ATR 0 0 0 0 4 0 0 0 4
B3GNT4, DIABLO 0 0 1 2 1 0 0 0 4
BRAF, LOC126860202 0 0 2 2 0 0 0 0 4
C2 1 0 1 0 2 0 0 0 4
C4BPB 0 0 0 0 4 0 0 0 4
CACNA1C 0 0 3 0 1 0 0 0 4
CARD11 0 0 0 0 4 0 0 0 4
CARD14 0 0 1 0 3 0 0 0 4
CD164 0 0 0 2 2 0 0 0 4
CDH1 0 0 0 1 3 0 0 0 4
CNGA3 2 1 1 0 0 0 0 0 4
COL6A2 1 0 0 2 1 0 0 0 4
CTC1 2 0 0 0 2 0 0 0 4
CTSA 1 0 0 0 3 0 0 0 4
DAG1 0 0 0 1 3 0 0 0 4
DCLRE1C 0 0 0 1 3 0 0 0 4
DGAT1 1 0 0 1 2 0 0 0 4
DIABLO, LOC130009040 0 0 3 1 0 0 0 0 4
DICER1 0 1 1 0 2 0 0 0 4
DNAAF5 0 0 0 0 4 0 0 0 4
DNAH17, LOC126862654 0 0 0 0 4 0 0 0 4
DNASE1L1, LOC130068869, TAFAZZIN 0 0 1 3 0 0 0 0 4
DNMT3B 0 0 0 0 4 0 0 0 4
DRC4 0 0 0 0 4 0 0 0 4
DSG2, LOC130062340 0 0 1 1 0 0 0 2 4
DYNC1I1 0 0 0 1 3 0 0 0 4
EDNRB, LOC107882129 0 0 3 0 1 0 0 0 4
ELMOD2 0 0 0 1 3 0 0 0 4
EVI5 0 0 0 0 4 0 0 0 4
EYS 2 1 1 0 0 0 0 0 4
F11 2 1 0 0 1 0 0 0 4
FAM20C 0 0 0 0 4 0 0 0 4
FANCA 2 2 0 0 0 0 0 0 4
FERMT3 0 0 0 0 4 0 0 0 4
FKTN 0 1 0 0 3 0 0 0 4
G6PD 1 1 0 0 2 0 0 0 4
GBA1, LOC106627981 2 1 0 0 1 0 0 0 4
GDNF 0 0 1 2 1 0 0 0 4
GFI1 0 0 0 0 4 0 0 0 4
GPR179 1 2 1 0 0 0 0 0 4
HDAC9 0 0 0 1 3 0 0 0 4
HEXA 2 0 0 0 1 0 1 0 4
HIVEP1 0 0 0 0 4 0 0 0 4
IFNGR1 1 0 0 0 3 0 0 0 4
IL1RN 0 0 0 0 4 0 0 0 4
KARS1, LOC126862402 0 0 4 0 0 0 0 0 4
KMT2D 0 0 0 0 4 0 0 0 4
LMNA, LOC129931597 2 0 0 1 1 0 0 0 4
LOC126860875, NEBL 0 0 3 0 1 0 0 0 4
LOC126863144, TRIOBP 0 0 0 4 0 0 0 0 4
LOC129933334, OTOF 1 0 3 0 0 0 0 0 4
LOC129933336, OTOF 0 0 2 2 0 0 0 0 4
LOC130057222, TPM1 0 0 4 0 0 0 0 0 4
LOC130063193, MAP2K2 0 0 1 3 0 0 0 0 4
LPIN1 0 0 0 0 4 0 0 0 4
MANBA 0 0 0 0 4 0 0 0 4
MEFV 2 1 1 0 0 0 0 0 4
MIR96 0 0 2 1 1 0 0 0 4
MMAB 2 1 0 0 1 0 0 0 4
MTM1 1 0 2 0 1 0 0 0 4
NF2 1 0 3 0 0 0 0 0 4
NLRP7 1 0 0 0 3 0 0 0 4
NR2E3 3 1 0 0 0 0 0 0 4
NUP188 0 0 0 0 4 0 0 0 4
ORC4 0 0 0 0 4 0 0 0 4
PDE6B 2 1 1 0 0 0 0 0 4
PHOX2B 0 0 0 0 4 0 0 0 4
PIK3R1 0 0 0 0 4 0 0 0 4
POMT2 0 0 0 0 4 0 0 0 4
PRF1 0 1 0 0 3 0 0 0 4
PROP1 0 0 0 1 3 0 0 0 4
RASGRP2 0 0 0 1 3 0 0 0 4
SBDS 2 0 0 1 1 0 0 0 4
SERAC1 0 2 0 0 2 0 0 0 4
SGCA 2 0 0 0 2 0 0 0 4
SI 0 4 0 0 0 0 0 0 4
SKIC2 0 0 0 0 4 0 0 0 4
SLC22A5 1 1 2 0 0 0 0 0 4
SLC34A3 0 0 0 0 4 0 0 0 4
SLC7A9 1 1 2 0 0 0 0 0 4
SMAD4 2 1 1 0 0 0 0 0 4
SOS2 0 0 0 0 4 0 0 0 4
STAT2 0 0 0 1 3 0 0 0 4
STAT3 0 0 0 2 2 0 0 0 4
SYNE1 0 2 2 0 0 0 0 0 4
TGFB2 0 2 1 0 0 0 0 1 4
TICAM1 0 0 0 0 4 0 0 0 4
TIMM8A 1 0 1 1 1 0 0 0 4
TNXB 0 1 1 0 2 0 0 0 4
TTC7A 0 0 0 1 3 0 0 0 4
ACP5 0 0 0 0 3 0 0 0 3
ACVR2B 0 0 0 0 3 0 0 0 3
ADGRV1, LOC129994205 0 0 0 3 0 0 0 0 3
AICDA 0 0 0 0 3 0 0 0 3
AKAP9 0 0 0 0 3 0 0 0 3
ALDOB 3 0 0 0 0 0 0 0 3
ANKRD11 2 1 0 0 0 0 0 0 3
APOB, LOC106560211 0 1 0 0 2 0 0 0 3
ASS1 2 1 0 0 0 0 0 0 3
AURKC 1 0 1 0 1 0 0 0 3
AXIN2 0 0 0 0 3 0 0 0 3
BARD1 0 0 0 0 3 0 0 0 3
BBS10 1 2 0 0 0 0 0 0 3
BTK 0 1 0 1 1 0 0 0 3
C17orf107, CHRNE 1 0 1 0 1 0 0 0 3
C1S 0 0 0 1 2 0 0 0 3
C9 1 0 0 0 2 0 0 0 3
CACNA1A 0 1 1 0 1 0 0 0 3
CARD14, LOC126862662, SGSH 0 0 0 1 2 0 0 0 3
CCDC85C, CCNK 0 0 0 3 0 0 0 0 3
CD8A 0 0 0 0 3 0 0 0 3
CDCA7L, DNAH11 0 0 0 0 3 0 0 0 3
CERS1, GDF1 0 0 0 0 3 0 0 0 3
CLDN16 0 0 0 0 3 0 0 0 3
COL2A1 0 2 1 0 0 0 0 0 3
COL4A3, LOC129935730 0 0 0 1 2 0 0 0 3
CRPPA 0 0 0 0 3 0 0 0 3
CYP24A1 0 1 1 0 1 0 0 0 3
CYP2C9 0 0 0 0 0 3 0 0 3
CYP4V2 2 1 0 0 0 0 0 0 3
DNAH17, LOC126862656 0 0 0 0 3 0 0 0 3
DNMT3A 1 2 0 0 0 0 0 0 3
ELP1 1 2 0 0 0 0 0 0 3
ENG, LOC102723566 0 0 3 0 0 0 0 0 3
ENPP1 0 0 0 2 1 0 0 0 3
FANCG 2 1 0 0 0 0 0 0 3
FBN1, LOC130057019 0 1 1 1 0 0 0 0 3
FECH 1 0 1 0 1 0 0 0 3
FGD1 0 0 0 0 3 0 0 0 3
FH 0 1 2 0 0 0 0 0 3
FKRP 1 0 0 0 2 0 0 0 3
FLT4 0 0 0 0 3 0 0 0 3
FOCAD 0 0 0 0 3 0 0 0 3
FOXE3, LINC01389 0 2 1 0 0 0 0 0 3
FOXF1 1 0 0 0 2 0 0 0 3
GALC 0 2 1 0 0 0 0 0 3
GATA2 0 0 0 0 3 0 0 0 3
GFM1 0 1 0 2 0 0 0 0 3
GLDC 1 2 0 0 0 0 0 0 3
GNPTG 0 2 1 0 0 0 0 0 3
GRHPR 1 0 0 0 2 0 0 0 3
GUCY2C 0 0 0 0 3 0 0 0 3
HARS2, LOC119407423 0 0 2 1 0 0 0 0 3
HCN2 0 0 1 2 0 0 0 0 3
HERC2 0 0 0 0 3 0 0 0 3
HEXD 0 0 0 0 3 0 0 0 3
HOGA1 2 0 0 0 1 0 0 0 3
HPS6, LOC130004578 0 1 0 1 1 0 0 0 3
HSPH1 0 0 2 0 1 0 0 0 3
ICOS 0 0 1 0 2 0 0 0 3
IFT88 0 0 0 0 3 0 0 0 3
ITGA9 0 0 0 0 3 0 0 0 3
KIF1B 0 0 0 0 3 0 0 0 3
KIF26B 0 0 0 0 3 0 0 0 3
KLHL40 0 0 1 0 2 0 0 0 3
LAMA4, LOC126859766 0 0 2 1 0 0 0 0 3
LBR 0 0 0 0 3 0 0 0 3
LDLR, MIR6886 2 0 1 0 0 0 0 0 3
LIFR 0 2 0 0 1 0 0 0 3
LIG4 0 1 0 0 2 0 0 0 3
LOC105378311, PCDH15 0 0 1 1 1 0 0 0 3
LOC126807246, PDLIM3 0 0 0 0 3 0 0 0 3
LOC126862902, RYR1 0 0 1 0 2 0 0 0 3
LOC129935184, TTN 0 0 1 1 1 0 0 0 3
LOC129997052, RSPH4A 0 1 1 0 1 0 0 0 3
LOC130009266, POLE 0 1 1 0 1 0 0 0 3
LOC130068494, TIMM8A 0 0 1 0 1 0 0 1 3
LPIN2 0 0 1 1 1 0 0 0 3
LRTOMT 0 0 1 1 1 0 0 0 3
MBL2 0 0 0 1 2 0 0 0 3
MECP2 1 0 0 1 1 0 0 0 3
MIPEP 0 1 2 0 0 0 0 0 3
MPI 0 0 0 0 3 0 0 0 3
MPL 0 1 1 1 0 0 0 0 3
MSH5, MSH5-SAPCD1 0 0 0 0 3 0 0 0 3
MVK 1 0 0 0 2 0 0 0 3
MYH2, MYHAS 0 2 1 0 0 0 0 0 3
NCF4 0 0 0 0 3 0 0 0 3
NEK2 0 0 0 0 3 0 0 0 3
NFKBIA 0 0 0 0 3 0 0 0 3
NLRC4 0 0 0 1 2 0 0 0 3
NLRP1 0 0 0 0 3 0 0 0 3
NPHP3-ACAD11, UBA5 2 0 1 0 0 0 0 0 3
NPHP4 1 1 1 0 0 0 0 0 3
NR3C2 0 0 0 0 3 0 0 0 3
ODAD2 1 0 0 0 2 0 0 0 3
ODAD3 0 0 1 0 2 0 0 0 3
PDX1 0 0 1 0 2 0 0 0 3
PEPD 1 0 0 0 2 0 0 0 3
PEX1 0 0 0 1 2 0 0 0 3
PICALM 0 0 0 0 3 0 0 0 3
PIGV 0 1 1 1 0 0 0 0 3
PKD1 0 1 1 1 0 0 0 0 3
PMM2 1 1 0 1 0 0 0 0 3
PNKP 1 0 1 1 0 0 0 0 3
PRKN 1 1 1 0 0 0 0 0 3
PRSS1, TRB 1 0 0 0 2 0 0 0 3
RECQL4 0 1 0 0 2 0 0 0 3
RNF43 0 0 0 0 3 0 0 0 3
SCARF2 0 0 0 0 3 0 0 0 3
SDHA 1 1 0 0 1 0 0 0 3
SEC63 0 0 0 3 0 0 0 0 3
SH3BP2 0 0 0 0 3 0 0 0 3
SLC12A1 0 0 0 2 1 0 0 0 3
SLC35C1 0 1 0 0 2 0 0 0 3
SNAI2 0 0 1 1 1 0 0 0 3
SPAG1 0 0 1 0 2 0 0 0 3
SPATC1L 0 0 0 0 3 0 0 0 3
SPG11 3 0 0 0 0 0 0 0 3
SPTA1 1 0 0 1 1 0 0 0 3
STK36 0 0 0 1 2 0 0 0 3
TAP1 0 0 0 0 3 0 0 0 3
TBK1 0 0 0 0 3 0 0 0 3
TBX1 0 0 1 0 2 0 0 0 3
TBX4 0 0 0 0 3 0 0 0 3
TLR3 0 0 1 0 2 0 0 0 3
TMC6 0 0 0 0 3 0 0 0 3
TNFRSF11A 0 0 0 0 3 0 0 0 3
TNFRSF1A 0 0 0 1 2 0 0 0 3
TRIP10 0 0 0 0 3 0 0 0 3
TRIP11 0 2 1 0 0 0 0 0 3
TSHR 1 1 0 1 0 0 0 0 3
TYK2 0 0 0 0 3 0 0 0 3
UPB1 0 1 1 1 0 0 0 0 3
VAV1 0 0 0 0 3 0 0 0 3
WRAP53 0 0 0 0 3 0 0 0 3
ZAN 0 0 0 0 3 0 0 0 3
ZAP70 0 0 1 0 2 0 0 0 3
ABCA1 0 0 0 2 0 0 0 0 2
ABCA4, LOC126805793 0 1 1 0 0 0 0 0 2
ABCB4 0 0 1 1 0 0 0 0 2
ABCC2 1 1 0 0 0 0 0 0 2
ABCG5, DYNC2LI1 2 0 0 0 0 0 0 0 2
ACADS 1 1 0 0 0 0 0 0 2
ACADSB 1 1 0 0 0 0 0 0 2
ACR 0 0 0 0 2 0 0 0 2
ADAMTSL4 2 0 0 0 0 0 0 0 2
ADSL 1 0 1 0 0 0 0 0 2
AGA 0 0 0 0 2 0 0 0 2
AGXT 1 0 0 0 1 0 0 0 2
AIP 0 0 1 0 1 0 0 0 2
AIPL1 1 0 0 0 1 0 0 0 2
AIRE 2 0 0 0 0 0 0 0 2
AK2 0 1 1 0 0 0 0 0 2
ALG1 2 0 0 0 0 0 0 0 2
ALOX12B 1 0 0 1 0 0 0 0 2
ANK2 0 1 1 0 0 0 0 0 2
ANKLE1 0 0 0 0 2 0 0 0 2
AOPEP, FANCC 1 0 0 1 0 0 0 0 2
APOE 1 0 1 0 0 0 0 0 2
AQP7, LOC126860614 0 0 0 0 2 0 0 0 2
ARHGAP31 0 0 0 0 2 0 0 0 2
ARID1B 0 1 1 0 0 0 0 0 2
ARMC5 0 1 0 0 1 0 0 0 2
ASB10 0 0 0 0 2 0 0 0 2
ASL 1 1 0 0 0 0 0 0 2
ASNS, CZ1P-ASNS 0 2 0 0 0 0 0 0 2
ASPM 0 1 0 0 1 0 0 0 2
ASTN2, TRIM32 0 1 0 0 1 0 0 0 2
ASXL3 0 1 1 0 0 0 0 0 2
ATF6 1 1 0 0 0 0 0 0 2
ATG9B, NOS3 0 0 0 0 2 0 0 0 2
ATP2A2 0 0 0 2 0 0 0 0 2
ATP6V0A4 0 0 0 0 2 0 0 0 2
ATP7A 0 0 1 0 1 0 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 1 0 0 0 2
BAIAP2L1, BRI3 0 0 0 0 2 0 0 0 2
BBS1, ZDHHC24 1 0 1 0 0 0 0 0 2
BCHE 0 2 0 0 0 0 0 0 2
BEST1 0 2 0 0 0 0 0 0 2
BICD1 0 0 0 0 2 0 0 0 2
BIVM-ERCC5, ERCC5 0 2 0 0 0 0 0 0 2
BLNK 0 0 1 0 1 0 0 0 2
BUB1B 0 0 0 0 2 0 0 0 2
C19orf12 0 2 0 0 0 0 0 0 2
C4BPA 0 0 0 0 2 0 0 0 2
C8B 2 0 0 0 0 0 0 0 2
CACNA1F 0 0 0 2 0 0 0 0 2
CACNA2D4 0 0 2 0 0 0 0 0 2
CARD9 0 0 0 0 2 0 0 0 2
CARD9, SNAPC4 0 0 0 0 2 0 0 0 2
CASP10 0 0 0 0 2 0 0 0 2
CASP12 0 0 0 1 1 0 0 0 2
CASP8, LOC128772255 0 0 0 0 2 0 0 0 2
CASR 0 0 0 0 2 0 0 0 2
CATSPER2 0 0 1 0 1 0 0 0 2
CBL, LOC130006895 0 0 0 2 0 0 0 0 2
CBLIF 1 1 0 0 0 0 0 0 2
CCDC140, LOC107980445, PAX3 1 0 0 1 0 0 0 0 2
CD19 0 0 0 0 2 0 0 0 2
CD36 1 1 0 0 0 0 0 0 2
CD3G, LOC126861358 0 0 0 0 2 0 0 0 2
CDHR1 0 1 1 0 0 0 0 0 2
CDKN2A 0 0 1 0 1 0 0 0 2
CELA1 0 0 0 0 2 0 0 0 2
CEMIP2 0 0 1 0 1 0 0 0 2
CEP290 2 0 0 0 0 0 0 0 2
CFAP251 0 0 0 0 2 0 0 0 2
CFB 0 0 0 0 2 0 0 0 2
CFHR5 0 0 1 1 0 0 0 0 2
CFTR, LOC111674475 1 0 0 0 0 0 0 1 2
CHD7, LOC126860403 0 0 0 1 1 0 0 0 2
CHEK2 2 0 0 0 0 0 0 0 2
CLEC7A 0 0 0 0 2 0 0 0 2
CLNK 0 0 0 0 2 0 0 0 2
CNGB3 1 0 0 1 0 0 0 0 2
COL17A1 0 2 0 0 0 0 0 0 2
COL18A1 0 1 1 0 0 0 0 0 2
COL18A1, SLC19A1 0 1 0 0 1 0 0 0 2
COL5A1 0 1 0 0 1 0 0 0 2
COLEC11 0 0 0 0 2 0 0 0 2
COQ8A 0 1 0 0 1 0 0 0 2
CP, HPS3 0 0 0 0 2 0 0 0 2
CPAP 0 1 1 0 0 0 0 0 2
CPLANE1 0 2 0 0 0 0 0 0 2
CRB1 0 1 1 0 0 0 0 0 2
CSF3R 0 0 0 0 2 0 0 0 2
CSPP1 0 0 0 0 2 0 0 0 2
CTNNB1 1 0 0 0 1 0 0 0 2
CUZD1, FAM24B-CUZD1 0 0 0 0 2 0 0 0 2
CYP11B1, LOC106799833 1 0 0 0 1 0 0 0 2
CYP21A2, LOC106780800 2 0 0 0 0 0 0 0 2
CYP27A1 1 0 0 1 0 0 0 0 2
CYP2E1 0 0 0 0 2 0 0 0 2
DBT 2 0 0 0 0 0 0 0 2
DEFB126 0 0 0 0 2 0 0 0 2
DHFR, MSH3 0 0 0 0 2 0 0 0 2
DHODH 0 1 0 0 1 0 0 0 2
DNAAF1, TAF1C 1 0 0 0 1 0 0 0 2
DNAAF2, LOC130055542 0 0 0 0 2 0 0 0 2
DNAH10, DNAH10OS 0 0 0 0 2 0 0 0 2
DNHD1 0 2 0 0 0 0 0 0 2
DNM2 0 0 0 0 2 0 0 0 2
DNMT3B, LOC126863014 0 0 0 0 2 0 0 0 2
DOCK8, LOC126860552 0 0 0 0 2 0 0 0 2
DSG1 0 0 0 0 2 0 0 0 2
DST 0 0 2 0 0 0 0 0 2
DXO, SKIC2 0 0 0 0 2 0 0 0 2
DYRK1A 1 1 0 0 0 0 0 0 2
ECHS1 0 2 0 0 0 0 0 0 2
EFEMP2, MUS81 0 0 0 0 2 0 0 0 2
EIF2AK4, SRP14 0 0 0 0 2 0 0 0 2
EP300, LOC126863158 1 0 1 0 0 0 0 0 2
EVC2 1 1 0 0 0 0 0 0 2
EXOSC3 0 2 0 0 0 0 0 0 2
EYS, PHF3 0 1 1 0 0 0 0 0 2
F2 2 0 0 0 0 0 0 0 2
F7 0 1 0 1 0 0 0 0 2
FAH 2 0 0 0 0 0 0 0 2
FANCD2, LOC107303338 1 1 0 0 0 0 0 0 2
FBXL4 1 1 0 0 0 0 0 0 2
FGF23 0 0 1 0 1 0 0 0 2
FGG 1 0 1 0 0 0 0 0 2
FIG4 1 1 0 0 0 0 0 0 2
FOXP3 0 0 0 0 2 0 0 0 2
FRG2B 0 0 0 0 2 0 0 0 2
FRMPD4 0 0 1 0 1 0 0 0 2
FTCD 0 1 0 1 0 0 0 0 2
FUT8 0 0 0 0 2 0 0 0 2
FZD4, PRSS23 1 0 0 0 1 0 0 0 2
G6PC1 2 0 0 0 0 0 0 0 2
GALE 0 0 0 2 0 0 0 0 2
GALT 2 0 0 0 0 0 0 0 2
GIGYF2 0 0 0 2 0 0 0 0 2
GJC2 0 0 0 0 2 0 0 0 2
GLMN 0 2 0 0 0 0 0 0 2
GLRA1 0 1 0 1 0 0 0 0 2
GMPPB 2 0 0 0 0 0 0 0 2
GNE 2 0 0 0 0 0 0 0 2
GNPTAB 2 0 0 0 0 0 0 0 2
GNRHR 1 1 0 0 0 0 0 0 2
GOLGA6L10 0 0 0 0 2 0 0 0 2
GPI 0 1 0 1 0 0 0 0 2
GRHL2, LOC126860461 0 0 1 0 1 0 0 0 2
GRHL3 0 0 1 0 1 0 0 0 2
GRM6, ZNF454 0 1 1 0 0 0 0 0 2
GUCY2D 0 0 0 0 2 0 0 0 2
GYG1 1 0 1 0 0 0 0 0 2
GYS2 0 2 0 0 0 0 0 0 2
HCN4 0 0 1 1 0 0 0 0 2
HGSNAT 2 0 0 0 0 0 0 0 2
HIBCH 0 2 0 0 0 0 0 0 2
HLCS 0 0 1 1 0 0 0 0 2
HOPX 0 0 1 1 0 0 0 0 2
HR 1 0 0 1 0 0 0 0 2
HTT, LOC109461479, LOC129929027 0 0 0 0 2 0 0 0 2
IDH1 0 0 0 0 2 0 0 0 2
IFT172 0 2 0 0 0 0 0 0 2
IL10RA 0 0 0 0 2 0 0 0 2
IL20RA 0 0 0 0 2 0 0 0 2
IL2RA 0 0 0 0 2 0 0 0 2
IMPG1 0 0 2 0 0 0 0 0 2
INSL6, JAK2 0 0 0 0 2 0 0 0 2
INSR 0 0 0 0 2 0 0 0 2
IRF2BP2 0 0 0 0 2 0 0 0 2
ITGA2B 0 2 0 0 0 0 0 0 2
ITGA7 0 1 1 0 0 0 0 0 2
ITGB3 1 1 0 0 0 0 0 0 2
JAK3 0 0 0 0 2 0 0 0 2
KARS1, LOC130059450 0 0 2 0 0 0 0 0 2
KCNA5 0 0 0 0 2 0 0 0 2
KCNE3 0 0 2 0 0 0 0 0 2
KCNE3, LIPT2 0 0 2 0 0 0 0 0 2
KCNJ2 0 1 1 0 0 0 0 0 2
KIAA0586 1 1 0 0 0 0 0 0 2
KIF1A 0 1 0 0 1 0 0 0 2
LAMB2 0 2 0 0 0 0 0 0 2
LAMB3 0 2 0 0 0 0 0 0 2
LIPC 0 0 2 0 0 0 0 0 2
LIX1L, LOC126805851, RBM8A 2 0 0 0 0 0 0 0 2
LOC106029312, NCF1 0 0 0 0 2 0 0 0 2
LOC106780803, TNXB 0 0 0 0 2 0 0 0 2
LOC126861339, SDHD 1 0 0 0 1 0 0 0 2
LOC126861615, PAH 1 1 0 0 0 0 0 0 2
LOC129933707, MSH6 0 2 0 0 0 0 0 0 2
LOC129935185, TTN 0 0 1 0 1 0 0 0 2
LOC130001366, SHARPIN 0 0 0 0 2 0 0 0 2
LOC130003093, TPRN 0 2 0 0 0 0 0 0 2
LOC130004109, VCL 0 0 1 0 1 0 0 0 2
LOC130006838, SCN4B 0 0 0 0 2 0 0 0 2
LOC130008520, TMPO 0 0 0 1 1 0 0 0 2
LOC130058627, OTOA 2 0 0 0 0 0 0 0 2
LOC130062586, MALT1 0 0 1 0 1 0 0 0 2
LOC130067862, SCO2, TYMP 1 0 1 0 0 0 0 0 2
LPL 0 0 0 2 0 0 0 0 2
LRRC8A 0 0 0 0 2 0 0 0 2
LRRK2 2 0 0 0 0 0 0 0 2
MAP2K1, SNAPC5 0 0 0 1 1 0 0 0 2
MASP2 0 0 0 0 2 0 0 0 2
MCCC2 0 2 0 0 0 0 0 0 2
MCM3AP, YBEY 0 0 0 0 2 0 0 0 2
MCM4 0 0 1 0 1 0 0 0 2
MDN1 0 0 0 0 2 0 0 0 2
MFN2 0 1 1 0 0 0 0 0 2
MMAA 2 0 0 0 0 0 0 0 2
MMAB, MVK 0 0 0 0 2 0 0 0 2
MMACHC 2 0 0 0 0 0 0 0 2
MMP21 0 2 0 0 0 0 0 0 2
MMP8 0 0 0 1 1 0 0 0 2
MPDZ 0 2 0 0 0 0 0 0 2
MRPL4 0 0 0 0 2 0 0 0 2
MSTO1 0 2 0 0 0 0 0 0 2
MTHFD1 0 0 0 0 2 0 0 0 2
MUC12 0 0 0 0 2 0 0 0 2
NAGA 0 0 2 0 0 0 0 0 2
NBAS 1 1 0 0 0 0 0 0 2
NCR1, NLRP7 0 0 0 0 2 0 0 0 2
NEK1 0 2 0 0 0 0 0 0 2
NEUROG3 0 0 0 0 2 0 0 0 2
NFKB2 0 0 0 0 2 0 0 0 2
NKX2-1, SFTA3 0 0 1 1 0 0 0 0 2
NODAL 0 0 0 0 2 0 0 0 2
NPHS1 1 0 1 0 0 0 0 0 2
NPHS2 1 0 0 1 0 0 0 0 2
NUBPL 0 1 1 0 0 0 0 0 2
OR13C5 0 0 0 0 2 0 0 0 2
ORAI1 0 0 0 0 2 0 0 0 2
PAPSS2 0 2 0 0 0 0 0 0 2
PCCB 1 1 0 0 0 0 0 0 2
PDE4DIP 0 0 0 0 2 0 0 0 2
PDGFRA 0 0 0 0 2 0 0 0 2
PEX12 0 1 0 1 0 0 0 0 2
PEX19 0 2 0 0 0 0 0 0 2
PFKM 2 0 0 0 0 0 0 0 2
PHF21A 0 0 0 0 2 0 0 0 2
PHF24, SPATA31F1 0 0 0 0 2 0 0 0 2
PHYH 0 2 0 0 0 0 0 0 2
PIEZO1 0 2 0 0 0 0 0 0 2
PIGO 0 2 0 0 0 0 0 0 2
PKLR 0 1 0 0 1 0 0 0 2
PKM 0 0 0 1 1 0 0 0 2
PLA2G6 1 1 0 0 0 0 0 0 2
PML 0 0 0 0 2 0 0 0 2
PNPLA3 1 0 0 0 1 0 0 0 2
POMGNT1, TSPAN1 0 0 0 0 2 0 0 0 2
PPIL1 0 1 1 0 0 0 0 0 2
PRAMEF1 0 0 0 0 2 0 0 0 2
PRAMEF2 0 0 0 1 1 0 0 0 2
PRSS56 0 1 0 0 1 0 0 0 2
PSMB8 0 0 0 0 2 0 0 0 2
PTPRD 0 0 1 0 1 0 0 0 2
PYGL 1 0 0 0 1 0 0 0 2
RAB27A 1 0 1 0 0 0 0 0 2
RAC2 0 0 0 0 2 0 0 0 2
RAG1 0 0 0 0 2 0 0 0 2
RAI1 0 0 0 0 2 0 0 0 2
RFX5 0 0 0 0 2 0 0 0 2
RFXANK 0 0 0 0 2 0 0 0 2
RINT1 0 0 0 0 2 0 0 0 2
ROCK2 0 0 0 0 2 0 0 0 2
RP1L1 0 0 1 0 1 0 0 0 2
RPE65 0 1 1 0 0 0 0 0 2
RPSA 0 0 0 0 2 0 0 0 2
RRAS 0 0 0 0 2 0 0 0 2
RXYLT1 1 1 0 0 0 0 0 0 2
SCN1A, SCN9A 0 1 0 1 0 0 0 0 2
SCN3B 0 0 2 0 0 0 0 0 2
SERPINA3 0 0 0 0 2 0 0 0 2
SERPING1 0 0 0 1 1 0 0 0 2
SETBP1 0 0 0 1 1 0 0 0 2
SHANK3 0 0 1 0 1 0 0 0 2
SLC10A2 0 0 0 1 1 0 0 0 2
SLC26A2 1 0 1 0 0 0 0 0 2
SLC34A1 0 1 0 0 1 0 0 0 2
SLC34A2 0 0 0 0 2 0 0 0 2
SLC39A13 0 0 0 0 2 0 0 0 2
SLC3A1 1 0 0 0 1 0 0 0 2
SLC4A11 2 0 0 0 0 0 0 0 2
SPEN 0 0 0 0 2 0 0 0 2
SSC5D 0 0 0 0 2 0 0 0 2
STAT1 1 0 0 0 1 0 0 0 2
STING1 0 0 0 0 2 0 0 0 2
TCTN3 1 0 1 0 0 0 0 0 2
TELO2 0 0 2 0 0 0 0 0 2
TEX11 0 0 0 2 0 0 0 0 2
TG 1 0 1 0 0 0 0 0 2
TGM1 1 0 0 1 0 0 0 0 2
TMC8 0 0 0 0 2 0 0 0 2
TMCO1 1 1 0 0 0 0 0 0 2
TMEM127 0 1 0 0 1 0 0 0 2
TMEM94 2 0 0 0 0 0 0 0 2
TPM2 0 0 1 0 1 0 0 0 2
TPP1 0 1 0 1 0 0 0 0 2
TPSB2 0 0 0 0 2 0 0 0 2
TRAF3IP2 0 0 0 0 2 0 0 0 2
TRAPPC11 0 2 0 0 0 0 0 0 2
TTPA 2 0 0 0 0 0 0 0 2
TUBB8 0 0 2 0 0 0 0 0 2
UBR1 1 1 0 0 0 0 0 0 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 1 0 0 0 0 0 2
UNC93B1 0 0 0 1 1 0 0 0 2
USB1 0 0 0 0 2 0 0 0 2
VDR 0 0 0 0 2 0 0 0 2
VKORC1 0 0 0 0 0 2 0 0 2
VPS13A 1 1 0 0 0 0 0 0 2
VSX1 0 0 2 0 0 0 0 0 2
WDR62 1 1 0 0 0 0 0 0 2
WDR72 0 2 0 0 0 0 0 0 2
WIPF1 0 0 0 1 1 0 0 0 2
WRN 2 0 0 0 0 0 0 0 2
XDH 0 2 0 0 0 0 0 0 2
XIAP 0 0 0 0 2 0 0 0 2
XRCC4 1 1 0 0 0 0 0 0 2
ZFPM2 0 0 1 0 1 0 0 0 2
ZFYVE26 1 1 0 0 0 0 0 0 2
ZIC4 0 0 0 0 2 0 0 0 2
ZNF141 0 0 0 0 2 0 0 0 2
ZNF674 0 0 0 2 0 0 0 0 2
A2M, KLRG1 0 0 0 0 1 0 0 0 1
AAAS 1 0 0 0 0 0 0 0 1
AARS2 1 0 0 0 0 0 0 0 1
ABCA10 0 0 0 0 1 0 0 0 1
ABCA13 0 0 1 0 0 0 0 0 1
ABCB11 0 0 1 0 0 0 0 0 1
ABCC6, LOC125146421 0 0 1 0 0 0 0 0 1
ABCC8 0 0 0 1 0 0 0 0 1
ABCG8 0 1 0 0 0 0 0 0 1
ABHD14A-ACY1, ACY1 0 1 0 0 0 0 0 0 1
ACACB 0 0 0 0 1 0 0 0 1
ACAN 0 0 0 1 0 0 0 0 1
ACBD6, LHX4 1 0 0 0 0 0 0 0 1
ACE 1 0 0 0 0 0 0 0 1
ACKR1 0 0 0 0 1 0 0 0 1
ACOX1 0 1 0 0 0 0 0 0 1
ACSF3 0 1 0 0 0 0 0 0 1
ACTB 0 0 0 0 1 0 0 0 1
ACTR3C 0 0 0 0 1 0 0 0 1
ADA, LOC107303343 0 0 0 0 1 0 0 0 1
ADAM33 0 0 0 0 1 0 0 0 1
ADAMTSL4, MIR4257 0 1 0 0 0 0 0 0 1
ADAR 0 1 0 0 0 0 0 0 1
ADCY10 0 0 0 0 1 0 0 0 1
ADCY3 0 0 1 0 0 0 0 0 1
ADGRG1 1 0 0 0 0 0 0 0 1
ADGRV1, LOC129994207, LOC129994208 1 0 0 0 0 0 0 0 1
ADH1C 0 0 0 0 1 0 0 0 1
AGGF1 0 0 0 1 0 0 0 0 1
AGPS 0 1 0 0 0 0 0 0 1
AGRN 0 1 0 0 0 0 0 0 1
AGTR1 0 1 0 0 0 0 0 0 1
AGXT2 0 0 0 1 0 0 0 0 1
AHCY 0 0 0 1 0 0 0 0 1
AHDC1 0 0 1 0 0 0 0 0 1
AHI1 0 0 1 0 0 0 0 0 1
AK1, ST6GALNAC4-ST6GALNAC6-AK1 0 0 0 0 1 0 0 0 1
ALAD 0 0 1 0 0 0 0 0 1
ALB 1 0 0 0 0 0 0 0 1
ALDH3A2 1 0 0 0 0 0 0 0 1
ALDH5A1 1 0 0 0 0 0 0 0 1
ALDH7A1 1 0 0 0 0 0 0 0 1
ALG3 0 1 0 0 0 0 0 0 1
ALOXE3 1 0 0 0 0 0 0 0 1
ALS2CL 0 0 1 0 0 0 0 0 1
AMACR, C1QTNF3-AMACR 0 1 0 0 0 0 0 0 1
AMER1 1 0 0 0 0 0 0 0 1
AMH 0 0 0 1 0 0 0 0 1
AMHR2 0 1 0 0 0 0 0 0 1
AMPD1 0 0 0 1 0 0 0 0 1
AMT 1 0 0 0 0 0 0 0 1
ANAPC1 0 0 0 0 1 0 0 0 1
ANK1 0 0 0 1 0 0 0 0 1
ANKRD49, MRE11 0 0 0 0 1 0 0 0 1
ANO10 1 0 0 0 0 0 0 0 1
ANTXR1 0 1 0 0 0 0 0 0 1
AP1S3 0 0 0 1 0 0 0 0 1
AP2S1 0 0 0 0 1 0 0 0 1
AP4M1 0 0 0 1 0 0 0 0 1
AP5Z1 0 0 0 0 1 0 0 0 1
APP 0 1 0 0 0 0 0 0 1
AQP2 0 1 0 0 0 0 0 0 1
AQP2, AQP5 0 0 0 0 1 0 0 0 1
AR, LOC109504725 0 0 1 0 0 0 0 0 1
AREL1, MLH3 0 0 0 0 1 0 0 0 1
ARFGEF1 0 1 0 0 0 0 0 0 1
ARHGAP4 0 0 0 0 1 0 0 0 1
ARHGAP4, AVPR2 0 0 0 0 1 0 0 0 1
ARHGAP6 0 0 0 0 1 0 0 0 1
ARIH1 0 0 0 0 1 0 0 0 1
ARL13B 0 1 0 0 0 0 0 0 1
ARL17B, LRRC37A 0 0 0 0 1 0 0 0 1
ARL2BP 0 0 0 1 0 0 0 0 1
ARSA 1 0 0 0 0 0 0 0 1
ARSB 0 1 0 0 0 0 0 0 1
ARSL 0 0 1 0 0 0 0 0 1
ASCL1 0 0 0 0 1 0 0 0 1
ASXL1 0 1 0 0 0 0 0 0 1
ATP13A5 0 0 0 1 0 0 0 0 1
ATP1A3 0 1 0 0 0 0 0 0 1
ATP2A1 0 1 0 0 0 0 0 0 1
ATP2A3 0 0 0 1 0 0 0 0 1
ATP8B1 0 0 1 0 0 0 0 0 1
ATXN3 0 0 1 0 0 0 0 0 1
ATXN7, LOC108660406, LOC129936979 0 0 0 1 0 0 0 0 1
ATXN7L3, UBTF 1 0 0 0 0 0 0 0 1
AVPR2 0 0 0 1 0 0 0 0 1
AXDND1, NPHS2 0 1 0 0 0 0 0 0 1
AXIN1 0 0 0 0 1 0 0 0 1
B3GALT6 0 1 0 0 0 0 0 0 1
B4GALNT1 1 0 0 0 0 0 0 0 1
B9D1 0 0 0 0 1 0 0 0 1
BAAT 0 0 0 0 1 0 0 0 1
BBS1 0 0 1 0 0 0 0 0 1
BBS2 1 0 0 0 0 0 0 0 1
BCAN 0 0 0 0 1 0 0 0 1
BCKDHA 0 1 0 0 0 0 0 0 1
BCKDHB 1 0 0 0 0 0 0 0 1
BCL10 0 0 0 0 1 0 0 0 1
BCL10, LOC126805771 0 0 0 0 1 0 0 0 1
BICC1 0 0 1 0 0 0 0 0 1
BICRA 0 0 0 0 1 0 0 0 1
BLK 0 0 0 0 1 0 0 0 1
BLOC1S1-RDH5, RDH5 1 0 0 0 0 0 0 0 1
BMPER 0 0 1 0 0 0 0 0 1
BNC2 0 0 0 1 0 0 0 0 1
BOLA2, CORO1A 0 0 0 0 1 0 0 0 1
BRAF, LOC129999507 0 0 1 0 0 0 0 0 1
BRAT1 1 0 0 0 0 0 0 0 1
BRME1, CC2D1A 1 0 0 0 0 0 0 0 1
BTBD7 0 0 0 0 1 0 0 0 1
BTK, LOC130068496 0 0 0 0 1 0 0 0 1
C2, CFB 0 0 0 0 1 0 0 0 1
C21orf58, YBEY 0 0 0 0 1 0 0 0 1
C2CD3 0 0 1 0 0 0 0 0 1
C4B 0 0 0 0 1 0 0 0 1
CACNA1D, LOC129936904 0 0 0 0 1 0 0 0 1
CAPN1, LOC126861236 0 0 1 0 0 0 0 0 1
CARD14, SGSH 0 0 0 0 1 0 0 0 1
CARMIL2 0 0 1 0 0 0 0 0 1
CASP8 0 0 0 0 1 0 0 0 1
CASP8, FLACC1 0 0 0 0 1 0 0 0 1
CAST, ERAP1 0 0 0 0 1 0 0 0 1
CATSPER2, LOC130056948, LOC130056949 1 0 0 0 0 0 0 0 1
CATSPER2, LOC130056949 1 0 0 0 0 0 0 0 1
CC2D2A 1 0 0 0 0 0 0 0 1
CCBE1 0 0 0 0 1 0 0 0 1
CCDC40, GAA 1 0 0 0 0 0 0 0 1
CCDC66 0 0 0 0 1 0 0 0 1
CCN6 0 1 0 0 0 0 0 0 1
CCNF, TBC1D24 0 0 0 1 0 0 0 0 1
CCNO 0 0 0 0 1 0 0 0 1
CCNO, LOC129993895 1 0 0 0 0 0 0 0 1
CD207 0 0 0 0 1 0 0 0 1
CD27 0 0 0 0 1 0 0 0 1
CD27, LOC130007243 0 0 0 0 1 0 0 0 1
CD2AP 0 0 1 0 0 0 0 0 1
CD3E 0 0 0 0 1 0 0 0 1
CD40, LOC127893450 0 0 0 0 1 0 0 0 1
CD46 0 1 0 0 0 0 0 0 1
CD79B, GH-LCR 0 0 0 0 1 0 0 0 1
CDAN1 0 0 1 0 0 0 0 0 1
CDKL5 1 0 0 0 0 0 0 0 1
CDKN1B 0 0 0 0 1 0 0 0 1
CDKN1C 0 0 0 0 1 0 0 0 1
CDKN2A, LOC130001603 0 0 0 1 0 0 0 0 1
CDT1 0 1 0 0 0 0 0 0 1
CDYL 0 0 0 0 1 0 0 0 1
CEP152 0 1 0 0 0 0 0 0 1
CEP164 0 0 0 0 1 0 0 0 1
CERKL 0 1 0 0 0 0 0 0 1
CFD 0 0 0 0 1 0 0 0 1
CFH 1 0 0 0 0 0 0 0 1
CFI 0 0 0 0 1 0 0 0 1
CFP 0 0 0 0 1 0 0 0 1
CFTR, LOC111674463 0 0 0 0 1 0 0 0 1
CFTR, LOC111674477 0 0 0 0 1 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 0 0 0 1
CFTR, LOC113664106 1 0 0 0 0 0 0 0 1
CHI3L2 0 0 0 0 1 0 0 0 1
CHRNA1 0 1 0 0 0 0 0 0 1
CHRNE, LOC130060041 1 0 0 0 0 0 0 0 1
CHST3 0 1 0 0 0 0 0 0 1
CHST6 1 0 0 0 0 0 0 0 1
CITED2 0 0 1 0 0 0 0 0 1
CKAP2L 0 0 1 0 0 0 0 0 1
CLCN1 1 0 0 0 0 0 0 0 1
CLCN3 0 1 0 0 0 0 0 0 1
CLCNKB 0 0 0 0 1 0 0 0 1
CLEC4D 0 0 0 0 1 0 0 0 1
CLPS 0 0 0 0 1 0 0 0 1
CLPTM1L 0 0 1 0 0 0 0 0 1
CLTCL1 0 0 0 0 1 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 0 0 1
CNGB1 1 0 0 0 0 0 0 0 1
CNOT1 0 0 0 0 1 0 0 0 1
CNTN6 0 0 0 0 1 0 0 0 1
CNTNAP3B 0 0 0 0 1 0 0 0 1
COG4 0 1 0 0 0 0 0 0 1
COG5 0 0 0 1 0 0 0 0 1
COL11A1 0 0 0 0 1 0 0 0 1
COL1A2 0 0 0 0 1 0 0 0 1
COL5A2 0 0 0 0 1 0 0 0 1
COL6A1 0 0 0 0 1 0 0 0 1
COL6A3 0 0 0 1 0 0 0 0 1
COL6A5 0 0 0 0 1 0 0 0 1
COL9A1 0 1 0 0 0 0 0 0 1
COL9A3 0 0 0 0 1 0 0 0 1
COLQ 1 0 0 0 0 0 0 0 1
COQ2, LOC112997540 0 0 0 1 0 0 0 0 1
CP 0 1 0 0 0 0 0 0 1
CPN1 0 0 0 0 1 0 0 0 1
CPT1A 1 0 0 0 0 0 0 0 1
CPT2 1 0 0 0 0 0 0 0 1
CPT2, LOC129930561 1 0 0 0 0 0 0 0 1
CREB3L1 0 0 0 0 1 0 0 0 1
CRPPA, LOC129998005 0 0 0 0 1 0 0 0 1
CRTAP 1 0 0 0 0 0 0 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 0 0 1
CRYM, LOC130058620 0 0 1 0 0 0 0 0 1
CSPG4 0 0 0 0 1 0 0 0 1
CST3, LOC130065547 0 0 0 0 1 0 0 0 1
CTAGE6 0 0 0 0 1 0 0 0 1
CTLA4 0 0 0 0 1 0 0 0 1
CTPS1 0 0 0 0 1 0 0 0 1
CTSG 0 0 0 0 1 0 0 0 1
CTU2 0 0 0 0 1 0 0 0 1
CUL3 0 0 0 0 1 0 0 0 1
CYB5R3 1 0 0 0 0 0 0 0 1
CYP11A1 0 1 0 0 0 0 0 0 1
CYP17A1 0 1 0 0 0 0 0 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 0 0 0 1
CYP26C1 0 0 1 0 0 0 0 0 1
CYP2C8 0 0 0 0 1 0 0 0 1
CYP2F1 0 0 0 0 1 0 0 0 1
CYP2R1, PDE3B 0 1 0 0 0 0 0 0 1
CYP3A4 0 0 1 0 0 0 0 0 1
CYP4B1 0 0 0 0 1 0 0 0 1
CYP4V2, LOC129993526 0 1 0 0 0 0 0 0 1
CYP7B1 0 1 0 0 0 0 0 0 1
DAP3, YY1AP1 0 0 0 0 1 0 0 0 1
DBH 1 0 0 0 0 0 0 0 1
DGUOK 1 0 0 0 0 0 0 0 1
DHDDS 1 0 0 0 0 0 0 0 1
DHTKD1 0 0 1 0 0 0 0 0 1
DKC1 0 0 0 0 1 0 0 0 1
DMD, LOC129391296 1 0 0 0 0 0 0 0 1
DMP1 0 1 0 0 0 0 0 0 1
DMP1, DSPP 0 0 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 0 0 1
DMXL1 0 0 0 0 1 0 0 0 1
DNAAF11 0 0 0 0 1 0 0 0 1
DNAAF3, LOC130065090 0 0 0 0 1 0 0 0 1
DNAH11, LOC126859962 0 0 0 1 0 0 0 0 1
DNAH5, LOC107457585 0 0 0 0 1 0 0 0 1
DNAH9, LOC101928350 0 0 0 0 1 0 0 0 1
DNAJA4 0 0 0 1 0 0 0 0 1
DNAJB11 1 0 0 0 0 0 0 0 1
DNAJB6 0 0 0 0 1 0 0 0 1
DNAJC11 0 0 0 0 1 0 0 0 1
DNAL4 0 0 0 0 1 0 0 0 1
DNASE1L1, TAFAZZIN 0 1 0 0 0 0 0 0 1
DNM1L 0 0 0 0 1 0 0 0 1
DOCK6 0 1 0 0 0 0 0 0 1
DOCK9, LOC126861822 0 0 0 0 1 0 0 0 1
DOK7 1 0 0 0 0 0 0 0 1
DONSON 0 1 0 0 0 0 0 0 1
DOP1A, PGM3 0 1 0 0 0 0 0 0 1
DPAGT1 0 0 1 0 0 0 0 0 1
DPY19L2 0 0 0 0 1 0 0 0 1
DSC2, DSG2 0 0 0 1 0 0 0 0 1
DSC3 0 0 0 0 1 0 0 0 1
DSG1, LOC126862720 0 0 0 0 1 0 0 0 1
DUOX1 0 0 0 0 1 0 0 0 1
DYM, LOC130062481 0 0 0 0 1 0 0 0 1
DYNC1H1, LOC126862060 0 0 0 0 1 0 0 0 1
DYNC1I2 0 0 0 0 1 0 0 0 1
DYNC2I1 0 0 1 0 0 0 0 0 1
DYNLRB2 0 0 0 0 1 0 0 0 1
DYNLT3 0 0 0 0 1 0 0 0 1
EDARADD 0 0 1 0 0 0 0 0 1
EEA1 0 0 0 0 1 0 0 0 1
EFCAB10, RINT1 0 0 0 0 1 0 0 0 1
EFHC1 0 0 1 0 0 0 0 0 1
EHMT1 1 0 0 0 0 0 0 0 1
EIF2AK4, LOC130056813 0 0 0 0 1 0 0 0 1
EIF2B2 0 1 0 0 0 0 0 0 1
EIF2B5 1 0 0 0 0 0 0 0 1
ELAC2 0 0 0 0 1 0 0 0 1
ELANE 1 0 0 0 0 0 0 0 1
ELF4 0 0 0 0 1 0 0 0 1
ELP2 0 0 1 0 0 0 0 0 1
EML5, ZC3H14 0 0 0 0 1 0 0 0 1
EN1 0 0 0 1 0 0 0 0 1
ENTPD5 0 0 0 0 1 0 0 0 1
EPB41L1 0 0 0 1 0 0 0 0 1
EPHB4, LOC126860124 1 0 0 0 0 0 0 0 1
EPOR 0 0 1 0 0 0 0 0 1
ERCC4 0 0 1 0 0 0 0 0 1
ERCC6 1 0 0 0 0 0 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 0 0 0 1
ERN1 0 0 0 0 1 0 0 0 1
ESCO2 1 0 0 0 0 0 0 0 1
ESRRB, LOC130056147, LOC130056148 0 1 0 0 0 0 0 0 1
ETFB 0 0 0 0 1 0 0 0 1
ETV6, LOC126861452 0 0 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, LOC130060654, LOC130060655, LOC130060656, MIR4733HG, NF1, OMG 1 0 0 0 0 0 0 0 1
EVI2A, NF1 0 0 0 0 1 0 0 0 1
EXD3 0 0 0 0 1 0 0 0 1
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581, LOC130000582 1 0 0 0 0 0 0 0 1
EYA4, LOC126859796, TARID 0 0 1 0 0 0 0 0 1
F10 0 0 0 1 0 0 0 0 1
FA2H 0 1 0 0 0 0 0 0 1
FAM111B 0 0 1 0 0 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 0 0 0 1
FANCB 0 0 0 0 1 0 0 0 1
FANCC 0 1 0 0 0 0 0 0 1
FANCE 0 0 1 0 0 0 0 0 1
FANCF 0 1 0 0 0 0 0 0 1
FANCI 1 0 0 0 0 0 0 0 1
FANCL 0 1 0 0 0 0 0 0 1
FAS 0 0 0 0 1 0 0 0 1
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125, LOC130057018, LOC130057019 1 0 0 0 0 0 0 0 1
FBN2, LOC126807501 0 0 0 0 1 0 0 0 1
FCGR3B 0 0 0 0 1 0 0 0 1
FCN1 0 0 1 0 0 0 0 0 1
FCRL6 0 0 0 0 1 0 0 0 1
FDXR 0 1 0 0 0 0 0 0 1
FECH, LOC130062560 0 1 0 0 0 0 0 0 1
FGB 0 0 1 0 0 0 0 0 1
FGD1, TSR2 0 0 0 0 1 0 0 0 1
FGFR1 0 0 0 0 1 0 0 0 1
FGFR2 1 0 0 0 0 0 0 0 1
FIP1L1 0 0 0 0 1 0 0 0 1
FKBP14 0 0 0 0 1 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 0 1
FLVCR2 0 1 0 0 0 0 0 0 1
FMO1, FMO2 0 0 0 0 1 0 0 0 1
FOLR1 0 0 1 0 0 0 0 0 1
FOXP1 0 0 1 0 0 0 0 0 1
FOXRED1 0 1 0 0 0 0 0 0 1
FREM2 0 1 0 0 0 0 0 0 1
FRYL 0 0 1 0 0 0 0 0 1
FSCN2 0 0 0 0 1 0 0 0 1
FSIP1 0 0 0 0 1 0 0 0 1
FUBP1 0 0 0 0 1 0 0 0 1
FUCA1 0 0 0 0 1 0 0 0 1
FUS 0 0 0 1 0 0 0 0 1
FXN, LOC130001862 1 0 0 0 0 0 0 0 1
FZD4 0 0 0 1 0 0 0 0 1
G6PC3 0 0 0 0 1 0 0 0 1
GABRA4 0 0 0 0 1 0 0 0 1
GALK1 1 0 0 0 0 0 0 0 1
GALNS, LOC126862447 0 1 0 0 0 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 0 0 0 1
GAS8 0 0 0 0 1 0 0 0 1
GATA3 0 0 0 0 1 0 0 0 1
GATA3, LOC130003278 0 0 0 1 0 0 0 0 1
GBE1 1 0 0 0 0 0 0 0 1
GCH1, LOC130055692 0 0 0 1 0 0 0 0 1
GDF6 0 0 1 0 0 0 0 0 1
GFM2 0 0 1 0 0 0 0 0 1
GFPT1 0 0 1 0 0 0 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 0 0 1
GLIS3 0 1 0 0 0 0 0 0 1
GNA11 0 0 0 0 1 0 0 0 1
GNAI1 0 0 1 0 0 0 0 0 1
GNAS 0 0 0 0 1 0 0 0 1
GNB1 1 0 0 0 0 0 0 0 1
GNPAT 0 1 0 0 0 0 0 0 1
GOLGA6L6 0 0 0 0 1 0 0 0 1
GPC3 0 0 0 0 1 0 0 0 1
GREM1 0 0 0 0 1 0 0 0 1
GRIN2A 1 0 0 0 0 0 0 0 1
GRIN2B 1 0 0 0 0 0 0 0 1
GRIP1 0 0 0 1 0 0 0 0 1
GSAP 0 0 0 0 1 0 0 0 1
GSDMA 0 0 0 0 1 0 0 0 1
GSDMD 0 0 0 0 1 0 0 0 1
GSDME, LOC129998098 0 0 0 1 0 0 0 0 1
GUSB 0 0 0 0 1 0 0 0 1
GYG1, LOC129937737 0 1 0 0 0 0 0 0 1
GYPE 0 0 0 0 1 0 0 0 1
GYS1 0 1 0 0 0 0 0 0 1
H6PD 0 0 0 0 1 0 0 0 1
HADHB 0 0 0 0 1 0 0 0 1
HAVCR1 0 0 0 0 1 0 0 0 1
HBA2 0 0 0 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 0 0 0 0 0 1
HBG1, LOC106099064 0 0 0 0 1 0 0 0 1
HEATR1, LGALS8 0 0 0 0 1 0 0 0 1
HESX1 0 0 1 0 0 0 0 0 1
HEXB 0 0 0 0 1 0 0 0 1
HIVEP2 0 0 0 0 1 0 0 0 1
HJV 1 0 0 0 0 0 0 0 1
HMBS 1 0 0 0 0 0 0 0 1
HNF1B 0 0 1 0 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 0 0 0 1
HNRNPU 0 1 0 0 0 0 0 0 1
HOXA2 0 0 1 0 0 0 0 0 1
HPS1, MIR4685 1 0 0 0 0 0 0 0 1
HPS4, LOC130067148, SRRD 0 0 0 0 1 0 0 0 1
HPS5, LOC130005404 0 0 0 1 0 0 0 0 1
HS6ST1 0 0 0 0 1 0 0 0 1
HSALR1, PIEZO1 0 0 1 0 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 0 0 0 1
HSD17B4, LOC129994460 0 0 0 1 0 0 0 0 1
HSD3B2 0 1 0 0 0 0 0 0 1
HSPD1 0 0 0 0 1 0 0 0 1
IBA57 0 1 0 0 0 0 0 0 1
IDS 1 0 0 0 0 0 0 0 1
IDUA 1 0 0 0 0 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 0 0 0 1
IFNAR2, IFNAR2-IL10RB, IL10RB 0 0 0 0 1 0 0 0 1
IFNAR2-IL10RB, IL10RB 0 0 0 0 1 0 0 0 1
IFNG 0 0 0 0 1 0 0 0 1
IFNGR2 0 0 0 0 1 0 0 0 1
IFT52 0 0 0 0 1 0 0 0 1
IGF1, LINC02456 0 0 0 0 1 0 0 0 1
IGHMBP2, LOC126861245 0 0 0 0 1 0 0 0 1
IGSF3 0 0 0 0 1 0 0 0 1
IKBKB 0 0 0 0 1 0 0 0 1
IL11RA 0 0 0 1 0 0 0 0 1
IL12RB1, LOC130063972 0 0 0 0 1 0 0 0 1
IL17F 0 0 0 0 1 0 0 0 1
IL17RA, LOC130066894 0 0 0 0 1 0 0 0 1
IL21 0 0 0 0 1 0 0 0 1
IL21, LOC126807147 0 0 1 0 0 0 0 0 1
IL21R 0 0 1 0 0 0 0 0 1
IL23A, LOC132090128, STAT2 0 0 0 0 1 0 0 0 1
IL36RN 0 1 0 0 0 0 0 0 1
ILK, LOC130005201 0 0 0 1 0 0 0 0 1
INF2 0 0 1 0 0 0 0 0 1
INHA 0 0 0 0 1 0 0 0 1
INMT, INMT-MINDY4 0 0 0 0 1 0 0 0 1
INS, INS-IGF2 1 0 0 0 0 0 0 0 1
INVS 0 1 0 0 0 0 0 0 1
INVS, LOC130002251 0 0 0 0 1 0 0 0 1
IQCB1 1 0 0 0 0 0 0 0 1
IRAK4 0 0 0 0 1 0 0 0 1
IRF2BP2, LOC129932810 0 0 0 0 1 0 0 0 1
IRF2BP2, LOC129932812 0 0 0 0 1 0 0 0 1
IRS1 0 0 0 1 0 0 0 0 1
ISG15 0 0 0 0 1 0 0 0 1
ITGB4 0 1 0 0 0 0 0 0 1
ITGB6 0 0 1 0 0 0 0 0 1
JAG2 0 0 0 0 1 0 0 0 1
KANK1 0 0 1 0 0 0 0 0 1
KCND2 0 1 0 0 0 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 0 0 0 1
KCNK3 0 0 0 0 1 0 0 0 1
KCNMB3 0 0 0 0 1 0 0 0 1
KCNT2 0 0 0 1 0 0 0 0 1
KDM2B, KDM2B-DT 0 0 1 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 0 1
KDR 0 0 0 1 0 0 0 0 1
KHDC3L 0 1 0 0 0 0 0 0 1
KIF14 0 0 1 0 0 0 0 0 1
KIF7 1 0 0 0 0 0 0 0 1
KIFC1 0 0 0 0 1 0 0 0 1
KISS1 0 0 0 0 1 0 0 0 1
KIZ 1 0 0 0 0 0 0 0 1
KLF1 0 0 0 0 1 0 0 0 1
KLHL3 0 0 0 0 1 0 0 0 1
KLHL41 0 0 1 0 0 0 0 0 1
KLK4 0 1 0 0 0 0 0 0 1
KLLN, LOC130004273, PTEN 0 0 1 0 0 0 0 0 1
KMT2E 0 1 0 0 0 0 0 0 1
KNG1 0 0 0 0 1 0 0 0 1
KRT1 0 0 1 0 0 0 0 0 1
KRT16 0 0 0 1 0 0 0 0 1
KRT85 0 0 0 0 1 0 0 0 1
KRTAP10-10, TSPEAR 0 0 0 0 1 0 0 0 1
KRTAP4-8 0 0 0 0 1 0 0 0 1
KRTAP5-5 0 0 0 0 1 0 0 0 1
LAMA1, LOC101927188 0 1 0 0 0 0 0 0 1
LAMA2 0 1 0 0 0 0 0 0 1
LAMB1 0 1 0 0 0 0 0 0 1
LAPTM4B 0 0 0 0 1 0 0 0 1
LCAT 0 0 1 0 0 0 0 0 1
LCN2 0 0 0 0 1 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 0 1
LDLRAP1 0 0 0 0 1 0 0 0 1
LFNG 0 0 0 0 1 0 0 0 1
LGALS9B 0 0 0 0 1 0 0 0 1
LGI4 0 0 1 0 0 0 0 0 1
LIF 0 0 0 0 1 0 0 0 1
LILRA6 0 0 0 0 1 0 0 0 1
LIPA 1 0 0 0 0 0 0 0 1
LIPH 1 0 0 0 0 0 0 0 1
LMF1 0 0 0 0 1 0 0 0 1
LOC100131626, UBE4A 0 0 0 0 1 0 0 0 1
LOC105378311, MIR548F1, PCDH15 1 0 0 0 0 0 0 0 1
LOC106029240, VCX3A 0 0 0 0 1 0 0 0 1
LOC106736614, RET 0 0 1 0 0 0 0 0 1
LOC107648851, TAP2 0 0 0 0 1 0 0 0 1
LOC107988030, MITF 1 0 0 0 0 0 0 0 1
LOC107988042, MITF 0 0 1 0 0 0 0 0 1
LOC108281134, SOX3 0 0 0 0 1 0 0 0 1
LOC108663996, TBP 0 0 0 0 1 0 0 0 1
LOC110806263, TERT 0 0 0 1 0 0 0 0 1
LOC110806306, TERC 0 0 0 0 1 0 0 0 1
LOC112533672, UNC13D 0 0 0 1 0 0 0 0 1
LOC114803478, TRAF3IP2 0 0 0 0 1 0 0 0 1
LOC117038795, RNASEH2A 0 0 0 0 1 0 0 0 1
LOC121627876, LTBP4 0 0 0 0 1 0 0 0 1
LOC121815964, NFKB2 0 0 0 0 1 0 0 0 1
LOC121815974, OAT 0 1 0 0 0 0 0 0 1
LOC121852992, MYH14 0 0 1 0 0 0 0 0 1
LOC126653391, RSPH1 1 0 0 0 0 0 0 0 1
LOC126806009, USH2A 1 0 0 0 0 0 0 0 1
LOC126806791, MYLK 0 0 0 0 1 0 0 0 1
LOC126806930, MUC4 0 0 0 0 1 0 0 0 1
LOC126860392, RP1 0 0 1 0 0 0 0 0 1
LOC126860469, ZFPM2 0 0 0 0 1 0 0 0 1
LOC126861110, TALDO1 1 0 0 0 0 0 0 0 1
LOC126861316, MMP8 0 0 0 0 1 0 0 0 1
LOC126861897, MHRT, MIR208B, MYH7 0 1 0 0 0 0 0 0 1
LOC126862745, MYO5B, SNHG22 0 0 0 0 1 0 0 0 1
LOC126862757, TCF4 0 1 0 0 0 0 0 0 1
LOC126863160, NAGA 0 1 0 0 0 0 0 0 1
LOC126863330, RBMX 0 0 0 1 0 0 0 0 1
LOC129391106, RYR1 0 1 0 0 0 0 0 0 1
LOC129931299, WARS2 0 1 0 0 0 0 0 0 1
LOC129932144, RGS2 0 0 1 0 0 0 0 0 1
LOC129932452, NEK2 0 0 0 0 1 0 0 0 1
LOC129935186, TTN 0 0 0 1 0 0 0 0 1
LOC129935594, PNKD 0 0 1 0 0 0 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 0 1 0 0 0 0 1
LOC129992120, LRPAP1 0 1 0 0 0 0 0 0 1
LOC129997051, RSPH4A 0 0 0 0 1 0 0 0 1
LOC130000832, SPAG1 0 0 0 0 1 0 0 0 1
LOC130001238, ZFAT 0 0 1 0 0 0 0 0 1
LOC130001411, RECQL4 0 0 0 0 1 0 0 0 1
LOC130002223, TGFBR1 0 0 1 0 0 0 0 0 1
LOC130003999, PPA1 0 0 0 0 1 0 0 0 1
LOC130004599, NFKB2 0 0 0 0 1 0 0 0 1
LOC130005165, STIM1 0 0 1 0 0 0 0 0 1
LOC130008987, ORAI1 0 0 0 0 1 0 0 0 1
LOC130055387, NRL 0 0 1 0 0 0 0 0 1
LOC130056977, PATL2 0 1 0 0 0 0 0 0 1
LOC130057340, MAP2K1 0 0 0 0 1 0 0 0 1
LOC130057352, SMAD3 0 0 0 0 1 0 0 0 1
LOC130058907, SLC5A2 0 1 0 0 0 0 0 0 1
LOC130059740, MVD 0 0 1 0 0 0 0 0 1
LOC130061277, TSPOAP1 0 0 0 0 1 0 0 0 1
LOC130062628, TNFRSF11A 0 0 0 0 1 0 0 0 1
LOC130062899, STK11 0 0 0 0 1 0 0 0 1
LOC130064357, RYR1 0 0 0 0 1 0 0 0 1
LOC130064472, LTBP4 0 0 1 0 0 0 0 0 1
LOX, SRFBP1 0 1 0 0 0 0 0 0 1
LPA 0 0 0 0 1 0 0 0 1
LPO 0 0 0 0 1 0 0 0 1
LPO, MPO 1 0 0 0 0 0 0 0 1
LRAT 0 1 0 0 0 0 0 0 1
LRPPRC 0 0 1 0 0 0 0 0 1
LRRC14, RECQL4 0 0 0 0 1 0 0 0 1
LTBP2 0 1 0 0 0 0 0 0 1
LTBP3 0 0 0 0 1 0 0 0 1
LURAP1, POMGNT1 0 0 0 0 1 0 0 0 1
LURAP1L, TYRP1 1 0 0 0 0 0 0 0 1
MAF1, SHARPIN 0 0 0 0 1 0 0 0 1
MAGEF1 0 0 0 0 1 0 0 0 1
MAP1B 0 0 0 1 0 0 0 0 1
MAP3K6 0 0 0 0 1 0 0 0 1
MASP2, TARDBP 0 0 0 0 1 0 0 0 1
MAT1A 0 1 0 0 0 0 0 0 1
MBD1 0 0 0 1 0 0 0 0 1
MBD5 0 0 0 1 0 0 0 0 1
MBOAT7 0 1 0 0 0 0 0 0 1
MC1R 1 0 0 0 0 0 0 0 1
MCCC1 0 1 0 0 0 0 0 0 1
MCEE 0 0 0 0 1 0 0 0 1
MCIDAS 0 0 0 0 1 0 0 0 1
MCM3AP 0 0 0 0 1 0 0 0 1
MCOLN1 1 0 0 0 0 0 0 0 1
MED12 0 0 0 1 0 0 0 0 1
MED13L 0 1 0 0 0 0 0 0 1
MEF2A 0 0 0 0 1 0 0 0 1
MERTK 0 0 1 0 0 0 0 0 1
MESP2 0 0 0 1 0 0 0 0 1
MET 0 0 1 0 0 0 0 0 1
METTL27 0 0 0 1 0 0 0 0 1
MFSD12, TEKTIP1 0 0 0 0 1 0 0 0 1
MFSD8 1 0 0 0 0 0 0 0 1
MICU1 0 1 0 0 0 0 0 0 1
MILR1, POLG2 0 0 0 1 0 0 0 0 1
MIR183 0 0 0 0 0 0 0 1 1
MIR183, MIR96 0 0 0 1 0 0 0 0 1
MIR6744, MUC5B 0 0 0 0 1 0 0 0 1
MIR9718, SIX1 0 0 1 0 0 0 0 0 1
MKRN2, RAF1 0 0 0 0 1 0 0 0 1
MKS1 0 1 0 0 0 0 0 0 1
MLC1 0 1 0 0 0 0 0 0 1
MMADHC 0 0 0 0 1 0 0 0 1
MME 1 0 0 0 0 0 0 0 1
MMP26, OR51A2 0 0 0 0 1 0 0 0 1
MMP26, OR51F1 0 0 0 0 1 0 0 0 1
MOCS2 0 1 0 0 0 0 0 0 1
MPO 0 0 0 0 1 0 0 0 1
MPZ 0 1 0 0 0 0 0 0 1
MRAP 1 0 0 0 0 0 0 0 1
MRE11 0 0 0 0 1 0 0 0 1
MROH2B 0 0 0 0 1 0 0 0 1
MROH8, RPN2 0 0 0 0 1 0 0 0 1
MRPL9 0 0 0 0 1 0 0 0 1
MSH5, MSH5-SAPCD1, SAPCD1 0 0 0 0 1 0 0 0 1
MSN 1 0 0 0 0 0 0 0 1
MST1R 0 0 0 0 1 0 0 0 1
MT-CO3 0 0 0 0 1 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 0 0 1
MT-RNR1, MT-TS1 0 1 0 0 0 0 0 0 1
MT-RNR1, RNR1 0 0 0 1 0 0 0 0 1
MTFMT 1 0 0 0 0 0 0 0 1
MTHFR 0 0 0 0 1 0 0 0 1
MTO1 0 1 0 0 0 0 0 0 1
MTRFR 1 0 0 0 0 0 0 0 1
MTRR 1 0 0 0 0 0 0 0 1
MUC6 0 0 0 0 1 0 0 0 1
MYEF2, SLC24A5 0 1 0 0 0 0 0 0 1
MYO1E 0 0 0 1 0 0 0 0 1
MYO5B, SNHG22 0 0 0 0 1 0 0 0 1
MYO9B 0 0 0 0 1 0 0 0 1
MYOC 0 0 1 0 0 0 0 0 1
MYOT, PKD2L2-DT 0 0 0 0 1 0 0 0 1
NAA10 0 1 0 0 0 0 0 0 1
NAA15 0 1 0 0 0 0 0 0 1
NALCN 0 0 1 0 0 0 0 0 1
NARS1 1 0 0 0 0 0 0 0 1
NAT1 0 0 0 0 1 0 0 0 1
NAT10 0 0 0 0 1 0 0 0 1
NCF2 0 0 0 0 1 0 0 0 1
NCSTN 0 0 0 0 1 0 0 0 1
NDE1 0 0 1 0 0 0 0 0 1
NDUFAF3 0 0 1 0 0 0 0 0 1
NDUFV1 1 0 0 0 0 0 0 0 1
NDUFV3 0 0 0 1 0 0 0 0 1
NECAB2 0 0 0 0 1 0 0 0 1
NEFL 1 0 0 0 0 0 0 0 1
NEK8 0 0 1 0 0 0 0 0 1
NEXMIF 0 1 0 0 0 0 0 0 1
NFKB1 0 1 0 0 0 0 0 0 1
NFU1 0 0 0 0 1 0 0 0 1
NHERF1 0 0 0 1 0 0 0 0 1
NLRP14 0 0 0 0 1 0 0 0 1
NME9 0 0 0 0 1 0 0 0 1
NMNAT1 1 0 0 0 0 0 0 0 1
NOG 0 0 1 0 0 0 0 0 1
NOP10 0 0 0 0 1 0 0 0 1
NOP10, NUTM1 0 0 0 0 1 0 0 0 1
NOTCH2 0 0 0 0 1 0 0 0 1
NOTCH3 0 0 0 1 0 0 0 0 1
NPHP1 1 0 0 0 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 1 0 0 0 0 0 0 1
NPIPB5 0 0 0 1 0 0 0 0 1
NPPA 0 0 0 0 1 0 0 0 1
NR5A2 0 0 0 0 1 0 0 0 1
NRL, PCK2 0 0 1 0 0 0 0 0 1
NSD1 1 0 0 0 0 0 0 0 1
NSMAF 0 0 0 0 1 0 0 0 1
OGT 0 0 1 0 0 0 0 0 1
OPN1LW 0 0 0 0 1 0 0 0 1
OPRM1 0 0 0 0 1 0 0 0 1
OR1B1 0 0 0 0 1 0 0 0 1
OR2T33 0 0 0 0 1 0 0 0 1
OR2T5 0 0 0 0 1 0 0 0 1
OR52B4 0 0 0 0 1 0 0 0 1
ORC1 1 0 0 0 0 0 0 0 1
OTOR 0 0 0 0 1 0 0 0 1
OTULINL 0 0 0 0 1 0 0 0 1
OXA1L, SLC7A7 0 0 0 0 1 0 0 0 1
P2RX5, P2RX5-TAX1BP3 0 0 0 0 1 0 0 0 1
PADI6 0 1 0 0 0 0 0 0 1
PANK2 1 0 0 0 0 0 0 0 1
PAX1 0 0 0 1 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 1
PCBD1 0 1 0 0 0 0 0 0 1
PCCA 0 0 0 0 1 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 0 0 1
PCGF2 0 1 0 0 0 0 0 0 1
PCLO 0 0 1 0 0 0 0 0 1
PCNT 1 0 0 0 0 0 0 0 1
PCP2, STXBP2 0 0 0 0 1 0 0 0 1
PCSK6 0 0 0 0 1 0 0 0 1
PDE11A 0 0 1 0 0 0 0 0 1
PDE1C, PPP1R17 0 0 0 0 1 0 0 0 1
PDE4D 0 0 0 0 1 0 0 0 1
PDE8B 0 0 0 1 0 0 0 0 1
PEX10 0 0 0 1 0 0 0 0 1
PEX5 0 1 0 0 0 0 0 0 1
PEX6 0 1 0 0 0 0 0 0 1
PHEX, PTCHD1 0 0 0 0 1 0 0 0 1
PHKA2 0 0 1 0 0 0 0 0 1
PIGP 0 0 1 0 0 0 0 0 1
PINK1 1 0 0 0 0 0 0 0 1
PKD1L1 0 1 0 0 0 0 0 0 1
PKD2 1 0 0 0 0 0 0 0 1
PLA2G4D 0 0 0 0 1 0 0 0 1
PLCE1 1 0 0 0 0 0 0 0 1
PLD3 0 0 0 1 0 0 0 0 1
PLIN4 0 0 0 0 1 0 0 0 1
PLOD1 1 0 0 0 0 0 0 0 1
PNPLA1 0 0 0 1 0 0 0 0 1
PNPO 0 1 0 0 0 0 0 0 1
POLH 1 0 0 0 0 0 0 0 1
POLR2A 0 1 0 0 0 0 0 0 1
PPA2 1 0 0 0 0 0 0 0 1
PPARG 0 1 0 0 0 0 0 0 1
PPOX 1 0 0 0 0 0 0 0 1
PPP1CB 0 0 0 0 1 0 0 0 1
PPP1R37 0 0 0 0 1 0 0 0 1
PPT1 0 0 0 0 1 0 0 0 1
PRDM1 0 0 1 0 0 0 0 0 1
PRDM16, PRDM16-DT 0 0 0 1 0 0 0 0 1
PRDM2 0 0 0 1 0 0 0 0 1
PREPL 0 0 1 0 0 0 0 0 1
PREPL, SLC3A1 0 1 0 0 0 0 0 0 1
PRKAR1A 1 0 0 0 0 0 0 0 1
PRKG1 1 0 0 0 0 0 0 0 1
PRKRA 0 0 0 0 1 0 0 0 1
PRODH 0 0 0 0 1 0 0 0 1
PROM1 1 0 0 0 0 0 0 0 1
PROS1 0 0 1 0 0 0 0 0 1
PRX 0 1 0 0 0 0 0 0 1
PSPH 0 0 0 1 0 0 0 0 1
PTCH1 0 0 0 0 1 0 0 0 1
PTCHD3 0 0 0 0 1 0 0 0 1
PTGES3L, PTGES3L-AARSD1 0 0 0 0 1 0 0 0 1
PTH 0 0 0 0 1 0 0 0 1
PURA 1 0 0 0 0 0 0 0 1
PYCR2 0 1 0 0 0 0 0 0 1
QARS1 0 0 1 0 0 0 0 0 1
QDPR 0 1 0 0 0 0 0 0 1
RAB3GAP1 0 0 1 0 0 0 0 0 1
RAB3GAP2 0 1 0 0 0 0 0 0 1
RAD17 0 0 0 1 0 0 0 0 1
RAD52 0 0 0 1 0 0 0 0 1
RAPSN 1 0 0 0 0 0 0 0 1
RARS1 0 0 1 0 0 0 0 0 1
RBCK1 0 0 0 0 1 0 0 0 1
RECQL5 0 0 0 0 1 0 0 0 1
RELN 0 0 0 1 0 0 0 0 1
RGPD4 0 0 0 0 1 0 0 0 1
RHPN2 0 0 0 0 1 0 0 0 1
RIPK2 0 0 0 0 1 0 0 0 1
RLIM 1 0 0 0 0 0 0 0 1
RMND1 1 0 0 0 0 0 0 0 1
RNASEH2B 0 1 0 0 0 0 0 0 1
RNF168 0 0 0 0 1 0 0 0 1
RNF212 0 0 0 0 1 0 0 0 1
RP2 0 0 0 1 0 0 0 0 1
RPS19 0 0 0 0 1 0 0 0 1
RPS6KA3 1 0 0 0 0 0 0 0 1
RSU1 0 0 0 0 1 0 0 0 1
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 0 1 0 0 0 1
RTN2 0 0 1 0 0 0 0 0 1
RUNX1 0 0 1 0 0 0 0 0 1
SACK1H 0 0 1 0 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 0 0 1
SAR1B 0 1 0 0 0 0 0 0 1
SARM1, SLC46A1 0 0 0 0 1 0 0 0 1
SARS2 0 0 0 1 0 0 0 0 1
SCN11A 0 0 1 0 0 0 0 0 1
SCN2A 0 0 1 0 0 0 0 0 1
SEC23B 0 1 0 0 0 0 0 0 1
SECISBP2 0 1 0 0 0 0 0 0 1
SEMA3A 0 0 0 0 1 0 0 0 1
SEMA4A 0 0 0 0 1 0 0 0 1
SETD1B 0 0 0 1 0 0 0 0 1
SH3TC2 1 0 0 0 0 0 0 0 1
SHARPIN 0 0 0 0 1 0 0 0 1
SHH 0 0 0 0 1 0 0 0 1
SIGLEC12 0 0 0 0 1 0 0 0 1
SKIC3 0 1 0 0 0 0 0 0 1
SLC13A5 0 1 0 0 0 0 0 0 1
SLC22A1 0 0 0 0 1 0 0 0 1
SLC26A3 1 0 0 0 0 0 0 0 1
SLC2A2 0 0 0 0 1 0 0 0 1
SLC35A1 0 0 0 0 1 0 0 0 1
SLC37A4 1 0 0 0 0 0 0 0 1
SLC38A5 0 0 0 0 1 0 0 0 1
SLC4A1 0 0 1 0 0 0 0 0 1
SLC6A19 1 0 0 0 0 0 0 0 1
SLC6A5 0 0 0 1 0 0 0 0 1
SLC6A8 1 0 0 0 0 0 0 0 1
SLURP1 1 0 0 0 0 0 0 0 1
SMC3 0 1 0 0 0 0 0 0 1
SMN1 0 1 0 0 0 0 0 0 1
SMO 0 0 0 0 1 0 0 0 1
SMPX 0 0 1 0 0 0 0 0 1
SNCAIP 0 0 0 1 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 0 0 1
SNX13 0 0 0 0 1 0 0 0 1
SORD 1 0 0 0 0 0 0 0 1
SPAG7 0 0 0 0 1 0 0 0 1
SPAST 0 0 0 0 1 0 0 0 1
SPATA7 0 1 0 0 0 0 0 0 1
SPINK1 1 0 0 0 0 0 0 0 1
SPRY4 0 0 1 0 0 0 0 0 1
SQSTM1 1 0 0 0 0 0 0 0 1
SRPK3 0 0 1 0 0 0 0 0 1
SRRM2 0 1 0 0 0 0 0 0 1
STAC3 0 1 0 0 0 0 0 0 1
STAT4 0 0 0 0 1 0 0 0 1
STAT5B 0 0 0 0 1 0 0 0 1
STIL 0 0 0 1 0 0 0 0 1
STIM1 0 0 0 0 1 0 0 0 1
STX11 0 0 1 0 0 0 0 0 1
STXBP1 1 0 0 0 0 0 0 0 1
SUCLA2 0 0 1 0 0 0 0 0 1
SUCLG1 0 0 0 0 1 0 0 0 1
SULT1C3 0 0 0 0 1 0 0 0 1
SUMF1 0 1 0 0 0 0 0 0 1
SYNGAP1 0 0 1 0 0 0 0 0 1
SYNM 0 0 0 0 1 0 0 0 1
SYVN1 0 0 0 0 1 0 0 0 1
TANGO2 1 0 0 0 0 0 0 0 1
TAPBP 0 0 0 0 1 0 0 0 1
TAPBP, ZBTB22 0 0 0 0 1 0 0 0 1
TBCE 0 0 0 0 1 0 0 0 1
TBX5 0 1 0 0 0 0 0 0 1
TCAF2 0 0 0 1 0 0 0 0 1
TCF4 1 0 0 0 0 0 0 0 1
TCN2 0 0 0 0 1 0 0 0 1
TCTN2 1 0 0 0 0 0 0 0 1
TENM2 0 0 0 0 1 0 0 0 1
TENT5A 0 0 0 0 1 0 0 0 1
TGFB3 0 1 0 0 0 0 0 0 1
TGIF1 0 0 0 0 1 0 0 0 1
TH 1 0 0 0 0 0 0 0 1
THBD 0 0 0 1 0 0 0 0 1
THPO 0 0 1 0 0 0 0 0 1
TK2 0 1 0 0 0 0 0 0 1
TLK1 0 0 1 0 0 0 0 0 1
TMC6, TMC8 0 0 0 0 1 0 0 0 1
TMEM126B 1 0 0 0 0 0 0 0 1
TMEM216 1 0 0 0 0 0 0 0 1
TMEM237 0 1 0 0 0 0 0 0 1
TMEM67 0 1 0 0 0 0 0 0 1
TMEM70 1 0 0 0 0 0 0 0 1
TMPRSS15 0 0 1 0 0 0 0 0 1
TMPRSS6 0 0 0 0 1 0 0 0 1
TNFRSF4 0 0 0 0 1 0 0 0 1
TOR1A 0 0 1 0 0 0 0 0 1
TP53BP1, TUBGCP4 0 1 0 0 0 0 0 0 1
TPI1 1 0 0 0 0 0 0 0 1
TPM3 0 0 0 0 1 0 0 0 1
TPMT 0 0 0 1 0 0 0 0 1
TPTE2 0 0 0 0 1 0 0 0 1
TRAF1 0 0 0 0 1 0 0 0 1
TRIO 0 0 1 0 0 0 0 0 1
TRIP12 0 1 0 0 0 0 0 0 1
TRIP4 1 0 0 0 0 0 0 0 1
TSEN54 1 0 0 0 0 0 0 0 1
TSPOAP1 0 0 0 0 1 0 0 0 1
TTC21B 0 0 1 0 0 0 0 0 1
TTC29 0 1 0 0 0 0 0 0 1
TTC8 0 0 1 0 0 0 0 0 1
TULP1 0 1 0 0 0 0 0 0 1
TXNL4A 0 1 0 0 0 0 0 0 1
UGT2A1 0 0 0 1 0 0 0 0 1
UNC119 0 0 0 0 1 0 0 0 1
UNC80 0 1 0 0 0 0 0 0 1
UTP4 0 0 1 0 0 0 0 0 1
VIPAS39 1 0 0 0 0 0 0 0 1
VMA22 1 0 0 0 0 0 0 0 1
VPS53 0 0 1 0 0 0 0 0 1
VSIG10 0 0 0 0 1 0 0 0 1
WDR19 1 0 0 0 0 0 0 0 1
WDR35 0 1 0 0 0 0 0 0 1
WDR36 0 0 1 0 0 0 0 0 1
WNT10A 1 0 0 0 0 0 0 0 1
WWC1 0 0 0 0 1 0 0 0 1
XIRP2 0 0 0 0 1 0 0 0 1
YBEY 0 0 0 0 1 0 0 0 1
ZEB1 0 0 0 1 0 0 0 0 1
ZFHX4 0 1 0 0 0 0 0 0 1
ZFP57 0 1 0 0 0 0 0 0 1
ZIC3 0 0 0 1 0 0 0 0 1
ZIC5 0 0 0 0 1 0 0 0 1
ZMPSTE24 0 0 1 0 0 0 0 0 1
ZNF233 0 0 0 0 1 0 0 0 1
ZNF480 0 0 0 0 1 0 0 0 1
ZNF536 0 0 0 0 1 0 0 0 1
ZNF705G 0 0 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 644
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
not specified 0 0 7410 6323 7171 0 0 69 20973
Rare genetic deafness 479 310 10 0 0 0 0 0 799
Hypertrophic cardiomyopathy 232 179 41 0 0 0 0 0 452
Hereditary breast ovarian cancer syndrome 279 79 0 0 0 0 0 0 358
Primary dilated cardiomyopathy 42 257 17 1 0 0 0 0 317
not provided 1 0 281 0 0 0 0 0 282
Lynch syndrome 112 82 1 0 0 0 0 1 196
Marfan syndrome 66 103 2 0 0 0 0 0 171
Homozygous familial hypercholesterolemia 71 59 0 0 0 0 0 0 130
Noonan syndrome 85 42 0 0 0 0 0 0 127
Arrhythmogenic right ventricular cardiomyopathy 27 78 6 0 0 0 0 0 111
Wilson disease 42 41 1 0 0 0 0 0 84
Non-small cell lung carcinoma 39 32 0 0 0 0 0 2 73
Congenital long QT syndrome 19 40 0 0 0 0 0 0 59
Tyrosine kinase inhibitor response 0 0 0 0 0 53 0 0 53
Hypohidrotic X-linked ectodermal dysplasia 41 10 0 0 0 0 0 0 51
Li-Fraumeni syndrome 18 15 0 0 0 0 0 0 33
Cardio-facio-cutaneous syndrome 12 20 0 0 0 0 0 0 32
Primary ciliary dyskinesia 16 16 0 0 0 0 0 0 32
Maturity-onset diabetes of the young 14 16 0 0 0 0 0 0 30
Tuberous sclerosis syndrome 24 5 0 0 0 0 0 0 29
Hereditary pheochromocytoma and paraganglioma 11 16 0 0 0 0 0 0 27
Malignant hyperthermia of anesthesia 12 14 1 0 0 0 0 0 27
Brugada syndrome 4 19 3 0 0 0 0 0 26
Supravalvar aortic stenosis 21 5 0 0 0 0 0 0 26
Hypercholesterolemia, familial, 1 10 13 2 0 0 0 0 0 25
Phenylketonuria 20 5 0 0 0 0 0 0 25
Familial adenomatous polyposis 2 16 6 1 0 0 0 0 0 23
Familial multiple polyposis syndrome 14 8 0 0 0 0 0 0 22
Noonan syndrome; Cardio-facio-cutaneous syndrome 13 9 0 0 0 0 0 0 22
Usher syndrome 11 10 1 0 0 0 0 0 22
Von Hippel-Lindau syndrome 14 6 1 0 0 0 0 0 21
beta Thalassemia 20 1 0 0 0 0 0 0 21
Nonsyndromic genetic hearing loss 3 15 0 0 0 0 0 1 19
Cystic fibrosis 15 3 0 0 0 0 0 0 18
Ehlers-Danlos syndrome, type 4 2 15 0 0 0 0 0 0 17
Fanconi anemia 7 9 0 0 0 0 0 0 16
Neurodevelopmental disorder 3 13 0 0 0 0 0 0 16
Neuromuscular disease 9 7 0 0 0 0 0 0 16
Obesity due to melanocortin 4 receptor deficiency 5 11 0 0 0 0 0 0 16
Glycogen storage disease 8 7 0 0 0 0 0 0 15
Loeys-Dietz syndrome 5 9 0 0 0 0 0 0 14
Neurofibromatosis, type 1 9 5 0 0 0 0 0 0 14
PTEN hamartoma tumor syndrome 9 5 0 0 0 0 0 0 14
Stargardt disease 7 6 1 0 0 0 0 0 14
Classic homocystinuria 6 7 0 0 0 0 0 0 13
Cardiomyopathy 1 10 1 0 0 0 0 0 12
Catecholaminergic polymorphic ventricular tachycardia 2 10 0 0 0 0 0 0 12
Central core myopathy 1 10 1 0 0 0 0 0 12
Costello syndrome 7 5 0 0 0 0 0 0 12
Glycogen storage disease, type II 10 2 0 0 0 0 0 0 12
Danon disease 7 4 0 0 0 0 0 0 11
Fabry disease 4 6 1 0 0 0 0 0 11
Familial thoracic aortic aneurysm and aortic dissection 4 5 2 0 0 0 0 0 11
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 1 10 0 0 0 0 0 0 11
Retinitis pigmentosa 6 5 0 0 0 0 0 0 11
Young-onset Parkinson disease 2 9 0 0 0 0 0 0 11
Ataxia-telangiectasia syndrome 5 5 0 0 0 0 0 0 10
Hereditary spastic paraplegia 8 2 0 0 0 0 0 0 10
Hereditary von Willebrand disease 2 8 0 0 0 0 0 0 10
Joubert syndrome 3 7 0 0 0 0 0 0 10
Juvenile myelomonocytic leukemia; Noonan syndrome 9 1 0 0 0 0 0 0 10
Noonan syndrome with multiple lentigines; Noonan syndrome 10 0 0 0 0 0 0 0 10
alpha Thalassemia 5 4 0 0 0 0 0 0 9
Desmin-related myofibrillar myopathy 1 7 0 0 0 0 0 0 8
Familial cancer of breast 3 5 0 0 0 0 0 0 8
3-Methylglutaconic aciduria type 2 2 5 0 0 0 0 0 0 7
Amyloidosis, hereditary systemic 1 5 2 0 0 0 0 0 0 7
Biotinidase deficiency 6 1 0 0 0 0 0 0 7
Familial Mediterranean fever 6 1 0 0 0 0 0 0 7
Hypobetalipoproteinemia 1 6 0 0 0 0 0 0 7
Intellectual disability 2 5 0 0 0 0 0 0 7
Methylmalonic acidemia 5 2 0 0 0 0 0 0 7
Muscular dystrophy 6 1 0 0 0 0 0 0 7
Nemaline myopathy 0 7 0 0 0 0 0 0 7
Niemann-Pick disease, type C 4 3 0 0 0 0 0 0 7
Oculocutaneous albinism 4 3 0 0 0 0 0 0 7
Congenital myasthenic syndrome 3 3 0 0 0 0 0 0 6
Juvenile myelomonocytic leukemia 6 0 0 0 0 0 0 0 6
Leber congenital amaurosis 4 2 0 0 0 0 0 0 6
Morquio syndrome 2 4 0 0 0 0 0 0 6
Ovarian neoplasm 6 0 0 0 0 0 0 0 6
Tyrosinase-positive oculocutaneous albinism 3 3 0 0 0 0 0 0 6
Usher syndrome; Rare genetic deafness 5 1 0 0 0 0 0 0 6
Very long chain acyl-CoA dehydrogenase deficiency 4 2 0 0 0 0 0 0 6
Achromatopsia 4 1 0 0 0 0 0 0 5
Alkaptonuria 3 2 0 0 0 0 0 0 5
Centronuclear myopathy 1 4 0 0 0 0 0 0 5
Complement component 6 deficiency 4 1 0 0 0 0 0 0 5
Congenital stationary night blindness 1 3 1 0 0 0 0 0 5
Cystinuria 2 2 1 0 0 0 0 0 5
Glutaric aciduria, type 1 3 2 0 0 0 0 0 0 5
Hereditary factor VIII deficiency disease 0 4 1 0 0 0 0 0 5
Hereditary hemorrhagic telangiectasia 2 3 0 0 0 0 0 0 5
Hyalinosis, Segmental Glomerular 5 0 0 0 0 0 0 0 5
Male infertility with spermatogenesis disorder 1 4 0 0 0 0 0 0 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency 3 2 0 0 0 0 0 0 5
Mitochondrial oxidative phosphorylation disorder 2 3 0 0 0 0 0 0 5
Multiple endocrine neoplasia, type 1 4 1 0 0 0 0 0 0 5
Multiple endocrine neoplasia, type 2 5 0 0 0 0 0 0 0 5
Nephronophthisis 2 3 0 0 0 0 0 0 5
Primary dilated cardiomyopathy; Neuromuscular disease 1 4 0 0 0 0 0 0 5
Walker-Warburg congenital muscular dystrophy 2 3 0 0 0 0 0 0 5
Warfarin response 0 0 0 0 0 5 0 0 5
Xeroderma pigmentosum 2 3 0 0 0 0 0 0 5
Aicardi Goutieres syndrome 0 4 0 0 0 0 0 0 4
Alpha-1-antitrypsin deficiency 1 3 0 0 0 0 0 0 4
Arterial tortuosity syndrome 2 2 0 0 0 0 0 0 4
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2 2 0 0 0 0 0 0 4
Autosomal recessive spastic ataxia 2 2 0 0 0 0 0 0 4
Bardet-Biedl syndrome 1 3 0 0 0 0 0 0 4
Bietti crystalline corneoretinal dystrophy 2 2 0 0 0 0 0 0 4
Danon disease; Hypertrophic cardiomyopathy 2 2 0 0 0 0 0 0 4
Developmental and epileptic encephalopathy 4 0 0 0 0 0 0 0 4
Epidermolysis bullosa dystrophica 1 3 0 0 0 0 0 0 4
Glanzmann thrombasthenia 1 3 0 0 0 0 0 0 4
Glycine encephalopathy 2 2 0 0 0 0 0 0 4
Goldmann-Favre syndrome 3 1 0 0 0 0 0 0 4
Hereditary fructosuria 4 0 0 0 0 0 0 0 4
Hermansky-Pudlak syndrome 3 1 0 0 0 0 0 0 4
Left ventricular noncompaction 2 2 0 0 0 0 0 0 4
Limb-girdle muscular dystrophy 1 3 0 0 0 0 0 0 4
Maple syrup urine disease 3 1 0 0 0 0 0 0 4
Mitochondrial DNA depletion syndrome 1 3 0 0 0 0 0 0 4
Mitochondrial complex I deficiency 1 1 2 0 0 0 0 0 4
Mucolipidosis 2 2 0 0 0 0 0 0 4
Noonan syndrome with multiple lentigines 4 0 0 0 0 0 0 0 4
Rare syndromic intellectual disability 3 1 0 0 0 0 0 0 4
Restrictive cardiomyopathy 2 2 0 0 0 0 0 0 4
Retinoblastoma 2 2 0 0 0 0 0 0 4
Spongy degeneration of central nervous system 2 2 0 0 0 0 0 0 4
Sucrase-isomaltase deficiency 0 4 0 0 0 0 0 0 4
3-Methylglutaconic aciduria type 2; Primary dilated cardiomyopathy 1 2 0 0 0 0 0 0 3
Alstrom syndrome 0 3 0 0 0 0 0 0 3
Autosomal recessive bestrophinopathy 0 3 0 0 0 0 0 0 3
Autosomal recessive polycystic kidney disease 3 0 0 0 0 0 0 0 3
Birt-Hogg-Dube syndrome 0 3 0 0 0 0 0 0 3
Bloom syndrome 3 0 0 0 0 0 0 0 3
Brugada syndrome; Congenital long QT syndrome 1 2 0 0 0 0 0 0 3
CHARGE syndrome 2 1 0 0 0 0 0 0 3
Citrullinemia type I 2 1 0 0 0 0 0 0 3
Congenital disorder of glycosylation 2 1 0 0 0 0 0 0 3
Congenital hypothyroidism 1 2 0 0 0 0 0 0 3
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 1 2 0 0 0 0 0 0 3
Congenital primary aphakia 0 2 1 0 0 0 0 0 3
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2 1 0 0 0 0 0 0 3
Dyskeratosis congenita 1 2 0 0 0 0 0 0 3
Ehlers-Danlos syndrome 1 2 0 0 0 0 0 0 3
Fabry disease; Hypertrophic cardiomyopathy 2 1 0 0 0 0 0 0 3
Familial dysautonomia 1 2 0 0 0 0 0 0 3
Familial thyroid dyshormonogenesis 2 1 0 0 0 0 0 0 3
Galactosylceramide beta-galactosidase deficiency 0 2 1 0 0 0 0 0 3
Glycogen storage disease, type V 1 2 0 0 0 0 0 0 3
Hereditary factor XI deficiency disease 2 1 0 0 0 0 0 0 3
Hyperphosphatasia-intellectual disability syndrome 0 3 0 0 0 0 0 0 3
Ichthyosis vulgaris 3 0 0 0 0 0 0 0 3
Idiopathic and/or familial pulmonary arterial hypertension 2 1 0 0 0 0 0 0 3
Imerslund-Grasbeck syndrome 1 2 0 0 0 0 0 0 3
Jervell and Lange-Nielsen syndrome 0 3 0 0 0 0 0 0 3
Junctional epidermolysis bullosa 0 3 0 0 0 0 0 0 3
Juvenile hemochromatosis 2 1 0 0 0 0 0 0 3
KBG syndrome 2 1 0 0 0 0 0 0 3
Laminopathy 1 2 0 0 0 0 0 0 3
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection 2 1 0 0 0 0 0 0 3
Meckel-Gruber syndrome 0 3 0 0 0 0 0 0 3
Methylcrotonyl-CoA carboxylase deficiency 0 3 0 0 0 0 0 0 3
Polycystic kidney disease 2 1 0 0 0 0 0 0 3
Pontoneocerebellar hypoplasia 1 2 0 0 0 0 0 0 3
Primary dilated cardiomyopathy; Laminopathy 2 1 0 0 0 0 0 0 3
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 3 0 0 0 0 0 0 0 3
Sitosterolemia 2 1 0 0 0 0 0 0 3
Smith-Lemli-Opitz syndrome 2 1 0 0 0 0 0 0 3
Tay-Sachs disease 2 0 0 0 0 0 1 0 3
Waardenburg syndrome; Rare genetic deafness 3 0 0 0 0 0 0 0 3
Wolfram syndrome 1 3 0 0 0 0 0 0 0 3
Zellweger spectrum disorders 0 3 0 0 0 0 0 0 3
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 0 0 0 0 0 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 2 0 0 0 0 0 0 2
Achondrogenesis, type IA 0 2 0 0 0 0 0 0 2
Amelogenesis imperfecta 0 2 0 0 0 0 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 1 0 0 0 0 0 0 2
Argininosuccinate lyase deficiency 1 1 0 0 0 0 0 0 2
Atypical hemolytic-uremic syndrome 1 1 0 0 0 0 0 0 2
Autosomal dominant hypohidrotic ectodermal dysplasia 2 0 0 0 0 0 0 0 2
Autosomal erythropoietic protoporphyria 1 1 0 0 0 0 0 0 2
Autosomal recessive cerebellar ataxia 1 1 0 0 0 0 0 0 2
Autosomal recessive inherited pseudoxanthoma elasticum 2 0 0 0 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2C 2 0 0 0 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 0 0 0 0 0 0 0 2
Autosomal recessive primary microcephaly 0 2 0 0 0 0 0 0 2
Carnitine palmitoyltransferase II deficiency 2 0 0 0 0 0 0 0 2
Charcot-Marie-Tooth disease 1 1 0 0 0 0 0 0 2
Charcot-Marie-Tooth disease type 4J 1 1 0 0 0 0 0 0 2
Chronic mucocutaneous candidiasis 1 1 0 0 0 0 0 0 2
Coats plus syndrome 2 0 0 0 0 0 0 0 2
Cobalamin C disease 2 0 0 0 0 0 0 0 2
Cohen syndrome 1 1 0 0 0 0 0 0 2
Complement component 2 deficiency 1 0 1 0 0 0 0 0 2
Complement component 5 deficiency 1 1 0 0 0 0 0 0 2
Congenital central hypoventilation 2 0 0 0 0 0 0 0 2
Congenital diarrhea 5 with tufting enteropathy 1 1 0 0 0 0 0 0 2
Congenital factor V deficiency 0 2 0 0 0 0 0 0 2
Congenital hereditary endothelial dystrophy of cornea 2 0 0 0 0 0 0 0 2
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 2 0 0 0 0 0 0 2
Congenital myasthenic syndrome 4C 2 0 0 0 0 0 0 0 2
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 1 0 0 0 0 0 0 2
Cystinosis 2 0 0 0 0 0 0 0 2
DYRK1A-related intellectual disability syndrome 1 1 0 0 0 0 0 0 2
Deficiency of 2-methylbutyryl-CoA dehydrogenase 1 1 0 0 0 0 0 0 2
Deficiency of alpha-mannosidase 1 1 0 0 0 0 0 0 2
Deficiency of butyryl-CoA dehydrogenase 1 1 0 0 0 0 0 0 2
Deficiency of butyrylcholinesterase 0 2 0 0 0 0 0 0 2
Distal spinal muscular atrophy 2 0 0 0 0 0 0 0 2
Dubin-Johnson syndrome 1 1 0 0 0 0 0 0 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 1 0 0 0 0 0 2
Ellis-van Creveld syndrome 1 1 0 0 0 0 0 0 2
Factor V deficiency 1 1 0 0 0 0 0 0 2
Familial isolated deficiency of vitamin E 2 0 0 0 0 0 0 0 2
Finnish congenital nephrotic syndrome 2 0 0 0 0 0 0 0 2
Frasier syndrome 2 0 0 0 0 0 0 0 2
GNE myopathy 2 0 0 0 0 0 0 0 2
Galactosemia 2 0 0 0 0 0 0 0 2
Gaucher disease type I 2 0 0 0 0 0 0 0 2
Glaucoma 3A 2 0 0 0 0 0 0 0 2
Glaucoma of childhood 1 1 0 0 0 0 0 0 2
Glomuvenous malformation 0 2 0 0 0 0 0 0 2
Glycogen storage disease type III 1 1 0 0 0 0 0 0 2
Heart, malformation of 0 2 0 0 0 0 0 0 2
Hereditary intrinsic factor deficiency 1 1 0 0 0 0 0 0 2
Hereditary pancreatitis 2 0 0 0 0 0 0 0 2
Hereditary xanthinuria type 1 0 2 0 0 0 0 0 0 2
Hypodontia 0 2 0 0 0 0 0 0 2
Hypotrichosis simplex 2 0 0 0 0 0 0 0 2
Inborn mitochondrial myopathy 0 2 0 0 0 0 0 0 2
Infantile liver failure 1 1 0 0 0 0 0 0 2
Inherited bleeding disorder, platelet-type 1 1 0 0 0 0 0 0 2
Isolated congenital hypogonadotropic hypogonadism 1 1 0 0 0 0 0 0 2
Isolated ectopia lentis 1 1 0 0 0 0 0 0 2
Johanson-Blizzard syndrome 1 1 0 0 0 0 0 0 2
Knobloch syndrome 0 2 0 0 0 0 0 0 2
Legius syndrome 1 1 0 0 0 0 0 0 2
Leigh syndrome 1 1 0 0 0 0 0 0 2
MHC class II deficiency 1 1 0 0 0 0 0 0 2
MYH7-related skeletal myopathy 2 0 0 0 0 0 0 0 2
Meier-Gorlin syndrome 1 1 0 0 0 0 0 0 2
Melanoma 2 0 0 0 0 0 0 0 2
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 1 1 0 0 0 0 0 0 2
Microcephaly, normal intelligence and immunodeficiency 1 1 0 0 0 0 0 0 2
Mucopolysaccharidosis type 1 2 0 0 0 0 0 0 0 2
Mucopolysaccharidosis, MPS-III-C 2 0 0 0 0 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 0 2 0 0 0 0 0 0 2
Multiple endocrine neoplasia, type 2; Aganglionic megacolon 2 0 0 0 0 0 0 0 2
Naxos disease 0 2 0 0 0 0 0 0 2
Netherton syndrome 0 1 1 0 0 0 0 0 2
Neurodegeneration with brain iron accumulation 4 0 2 0 0 0 0 0 0 2
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 2 0 0 0 0 0 0 2
Ornithine carbamoyltransferase deficiency 0 2 0 0 0 0 0 0 2
PLA2G6-associated neurodegeneration 1 1 0 0 0 0 0 0 2
PMM2-congenital disorder of glycosylation 1 1 0 0 0 0 0 0 2
POLG-related disorder 1 1 0 0 0 0 0 0 2
Parkinson disease 2 0 0 0 0 0 0 0 2
Peroxisome biogenesis disorder 0 2 0 0 0 0 0 0 2
Phytanic acid storage disease 0 2 0 0 0 0 0 0 2
Pierson syndrome 0 2 0 0 0 0 0 0 2
Pitt-Hopkins syndrome 1 1 0 0 0 0 0 0 2
Polyglandular autoimmune syndrome, type 1 2 0 0 0 0 0 0 0 2
Polyglucosan body myopathy type 2 1 1 0 0 0 0 0 0 2
Primary ciliary dyskinesia 7 2 0 0 0 0 0 0 0 2
Primary degenerative dementia of the Alzheimer type, presenile onset 1 1 0 0 0 0 0 0 2
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2 0 0 0 0 0 0 0 2
Primary dilated cardiomyopathy; Left ventricular noncompaction 1 1 0 0 0 0 0 0 2
Primary hyperoxaluria type 3 2 0 0 0 0 0 0 0 2
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 1 1 0 0 0 0 0 0 2
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Diffuse interstitial pulmonary fibrosis 0 2 0 0 0 0 0 0 2
Propionic acidemia 1 1 0 0 0 0 0 0 2
Radial aplasia-thrombocytopenia syndrome 2 0 0 0 0 0 0 0 2
Renal carnitine transport defect 1 1 0 0 0 0 0 0 2
Renal tubular dysgenesis 1 1 0 0 0 0 0 0 2
Retinitis pigmentosa 25 2 0 0 0 0 0 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 2 0 0 0 0 0 0 2
Short rib-polydactyly syndrome 0 2 0 0 0 0 0 0 2
Short stature, microcephaly, and endocrine dysfunction 1 1 0 0 0 0 0 0 2
Stickler syndrome 0 2 0 0 0 0 0 0 2
Stuve-Wiedemann syndrome 0 2 0 0 0 0 0 0 2
Tyrosinemia type I 2 0 0 0 0 0 0 0 2
Undetermined early-onset epileptic encephalopathy 0 2 0 0 0 0 0 0 2
Upshaw-Schulman syndrome 1 1 0 0 0 0 0 0 2
Usher syndrome type 2A 2 0 0 0 0 0 0 0 2
VPS13A-related neurodegenerative disease 1 1 0 0 0 0 0 0 2
Vanishing white matter disease 1 1 0 0 0 0 0 0 2
Visceral heterotaxy 0 2 0 0 0 0 0 0 2
Werner syndrome 2 0 0 0 0 0 0 0 2
3 beta-Hydroxysteroid dehydrogenase deficiency 0 1 0 0 0 0 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 1 0 0 0 0 0 0 1
ACTH-independent macronodular adrenal hyperplasia 2 0 1 0 0 0 0 0 0 1
Achromatopsia 2 0 1 0 0 0 0 0 0 1
Acrocallosal syndrome 1 0 0 0 0 0 0 0 1
Acroerythrokeratoderma 1 0 0 0 0 0 0 0 1
Acute intermittent porphyria 1 0 0 0 0 0 0 0 1
Acyl-CoA oxidase deficiency 0 1 0 0 0 0 0 0 1
Adams-Oliver syndrome 0 1 0 0 0 0 0 0 1
Adenylosuccinate lyase deficiency 1 0 0 0 0 0 0 0 1
Adult hypophosphatasia 0 1 0 0 0 0 0 0 1
Aganglionic megacolon 1 0 0 0 0 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 0 0 0 1
Alpha-N-acetylgalactosaminidase deficiency type 1 0 1 0 0 0 0 0 0 1
Alpha-methylacyl-CoA racemase deficiency 0 1 0 0 0 0 0 0 1
Alternating hemiplegia of childhood 0 1 0 0 0 0 0 0 1
Amelogenesis imperfecta type 2A1 0 1 0 0 0 0 0 0 1
Analbuminemia 1 0 0 0 0 0 0 0 1
Andersen Tawil syndrome 0 1 0 0 0 0 0 0 1
Arteriohepatic dysplasia; Heart, malformation of 1 0 0 0 0 0 0 0 1
Arthrogryposis with renal dysfunction and cholestasis syndrome 1 0 0 0 0 0 0 0 1
Asphyxiating thoracic dystrophy 5 1 0 0 0 0 0 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 0 0 0 0 0 0 1
Atrichia with papular lesions 1 0 0 0 0 0 0 0 1
Auditory neuropathy-optic atrophy syndrome 0 1 0 0 0 0 0 0 1
Autosomal recessive DOPA responsive dystonia 1 0 0 0 0 0 0 0 1
Autosomal recessive ataxia, Beauce type 0 1 0 0 0 0 0 0 1
Autosomal recessive axonal hereditary motor and sensory neuropathy 1 0 0 0 0 0 0 0 1
Autosomal recessive chorioretinopathy-microcephaly syndrome 0 1 0 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 0 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 2 1 0 0 0 0 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 1 0 0 0 0 0 0 0 1
Autosomal recessive infantile hypercalcemia 0 1 0 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 0 0 0 0 1
Autosomal recessive osteopetrosis 0 1 0 0 0 0 0 0 1
Autosomal recessive osteopetrosis 1 1 0 0 0 0 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 0 0 0 0 1
Bardet-Biedl syndrome 2 1 0 0 0 0 0 0 0 1
Bardet-Biedl syndrome 8 0 0 1 0 0 0 0 0 1
Bilateral frontoparietal polymicrogyria 1 0 0 0 0 0 0 0 1
Bohring-Opitz syndrome 0 1 0 0 0 0 0 0 1
Brachyolmia 0 1 0 0 0 0 0 0 1
Brody myopathy 0 1 0 0 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 1 0 0 0 0 0 0 0 1
CCDC115-CDG 1 0 0 0 0 0 0 0 1
CHEK2-related cancer predisposition 1 0 0 0 0 0 0 0 1
CHEK2-related cancer risk 1 0 0 0 0 0 0 0 1
COG4-congenital disorder of glycosylation 0 1 0 0 0 0 0 0 1
Capillary malformation-arteriovenous malformation syndrome 1 0 0 0 0 0 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 1 0 0 0 0 0 0 1
Carney complex 1 0 0 0 0 0 0 0 1
Carnitine palmitoyl transferase 1A deficiency 1 0 0 0 0 0 0 0 1
Central core myopathy; Neuromuscular disease 1 0 0 0 0 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 4F 0 1 0 0 0 0 0 0 1
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 0 1 0 0 0 0 0 0 1
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 1 0 0 0 0 0 0 1
Cholestanol storage disease 1 0 0 0 0 0 0 0 1
Chronic obstructive pulmonary disease 1 0 0 0 0 0 0 0 1
Chylomicron retention disease 0 1 0 0 0 0 0 0 1
Cobblestone lissencephaly without muscular or ocular involvement 0 1 0 0 0 0 0 0 1
Cockayne syndrome type 1 1 0 0 0 0 0 0 0 1
Cockayne syndrome type 2 1 0 0 0 0 0 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 1 0 0 0 0 0 0 1
Coffin-Lowry syndrome 1 0 0 0 0 0 0 0 1
Coffin-Siris syndrome 0 1 0 0 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 0 0 1
Combined deficiency of sialidase AND beta galactosidase 1 0 0 0 0 0 0 0 1
Combined immunodeficiency due to LRBA deficiency 0 1 0 0 0 0 0 0 1
Combined immunodeficiency due to moesin deficiency 1 0 0 0 0 0 0 0 1
Combined malonic and methylmalonic acidemia 0 1 0 0 0 0 0 0 1
Combined oxidative phosphorylation defect type 7 1 0 0 0 0 0 0 0 1
Combined oxidative phosphorylation defect type 8 1 0 0 0 0 0 0 0 1
Common variable immunodeficiency 0 1 0 0 0 0 0 0 1
Complement component 9 deficiency 1 0 0 0 0 0 0 0 1
Cone-rod dystrophy 0 1 0 0 0 0 0 0 1
Cone-rod dystrophy and hearing loss 1 0 1 0 0 0 0 0 0 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0 1 0 0 0 0 0 0 1
Congenital afibrinogenemia 1 0 0 0 0 0 0 0 1
Congenital amegakaryocytic thrombocytopenia 0 1 0 0 0 0 0 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 0 0 0 0 1
Congenital diarrhea 7 with exudative enteropathy 1 0 0 0 0 0 0 0 1
Congenital dyserythropoietic anemia 0 1 0 0 0 0 0 0 1
Congenital hydrocephalus 0 1 0 0 0 0 0 0 1
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome; Rare genetic deafness 0 1 0 0 0 0 0 0 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization 1 0 0 0 0 0 0 0 1
Congenital microvillous atrophy 0 1 0 0 0 0 0 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 1 0 0 0 0 0 0 1
Congenital myopathy 0 1 0 0 0 0 0 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 0 0 0 0 1
Congenital prothrombin deficiency 1 0 0 0 0 0 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 0 0 0 0 0 1
Corticosterone 18-monooxygenase deficiency 0 1 0 0 0 0 0 0 1
Cranioectodermal dysplasia 0 1 0 0 0 0 0 0 1
Creatine transporter deficiency 1 0 0 0 0 0 0 0 1
Crigler-Najjar syndrome, type II 0 1 0 0 0 0 0 0 1
Crouzon syndrome 1 0 0 0 0 0 0 0 1
Cutis laxa 0 1 0 0 0 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 1 0 0 0 0 0 0 0 1
DICER1-related tumor predisposition 0 1 0 0 0 0 0 0 1
DNA ligase IV deficiency 0 1 0 0 0 0 0 0 1
De Lange syndrome 0 1 0 0 0 0 0 0 1
Deafness dystonia syndrome 1 0 0 0 0 0 0 0 1
Deafness-infertility syndrome; Rare genetic deafness 1 0 0 0 0 0 0 0 1
Deficiency of beta-ureidopropionase 0 1 0 0 0 0 0 0 1
Deficiency of ferroxidase 0 1 0 0 0 0 0 0 1
Deficiency of galactokinase 1 0 0 0 0 0 0 0 1
Deficiency of steroid 11-beta-monooxygenase 1 0 0 0 0 0 0 0 1
Deficiency of steroid 17-alpha-monooxygenase 0 1 0 0 0 0 0 0 1
Deficiency of transaldolase 1 0 0 0 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 1 0 0 0 0 0 0 1
Diabetes mellitus, transient neonatal, 1 0 1 0 0 0 0 0 0 1
Diastrophic dysplasia 1 0 0 0 0 0 0 0 1
Diencephalic-mesencephalic junction dysplasia 0 1 0 0 0 0 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 1 0 0 0 0 0 1
Diffuse lymphatic malformation 0 1 0 0 0 0 0 0 1
Dihydropteridine reductase deficiency 0 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 0 0 0 0 1
Dyskeratosis congenita; Diffuse interstitial pulmonary fibrosis 0 1 0 0 0 0 0 0 1
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 1 0 0 0 0 0 0 0 1
Ectodermal dysplasia 1 0 0 0 0 0 0 0 1
Ectopia lentis 1 0 0 0 0 0 0 0 1
Eichsfeld type congenital muscular dystrophy 1 0 0 0 0 0 0 0 1
Episodic ataxia type 2 0 1 0 0 0 0 0 0 1
Factor VII deficiency 0 1 0 0 0 0 0 0 1
Familial exudative vitreoretinopathy 1 0 0 0 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 0 1 0 0 0 0 0 0 1
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 0 1 0 0 0 0 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 0 0 0 0 1
Familial idiopathic steroid-resistant nephrotic syndrome 1 0 0 0 0 0 0 0 1
Familial partial lipodystrophy 0 1 0 0 0 0 0 0 1
Familial renal glucosuria 0 1 0 0 0 0 0 0 1
Familial renal hypouricemia 1 0 0 0 0 0 0 0 1
Fanconi anemia complementation group A 1 0 0 0 0 0 0 0 1
Fanconi anemia complementation group F 0 1 0 0 0 0 0 0 1
Farber lipogranulomatosis 0 1 0 0 0 0 0 0 1
Fowler syndrome 0 1 0 0 0 0 0 0 1
Fraser syndrome 1 0 1 0 0 0 0 0 0 1
Friedreich ataxia 1 1 0 0 0 0 0 0 0 1
GAPO syndrome 0 1 0 0 0 0 0 0 1
GM1 gangliosidosis 1 0 0 0 0 0 0 0 1
Gastrointestinal stromal tumor 0 1 0 0 0 0 0 0 1
Gastrointestinal stromal tumor; Hereditary pheochromocytoma and paraganglioma 1 0 0 0 0 0 0 0 1
Gaucher disease 0 1 0 0 0 0 0 0 1
Generalized juvenile polyposis/juvenile polyposis coli 1 0 0 0 0 0 0 0 1
Generalized pustular psoriasis 0 1 0 0 0 0 0 0 1
Glucocorticoid deficiency 2 1 0 0 0 0 0 0 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 0 0 0 0 1
Glutamate formiminotransferase deficiency 0 1 0 0 0 0 0 0 1
Glycogen storage disease, type I 1 0 0 0 0 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 0 0 0 0 1
Glycogen storage disease, type VII 1 0 0 0 0 0 0 0 1
Griscelli syndrome 1 0 0 0 0 0 0 0 1
Hb SS disease 1 0 0 0 0 0 0 0 1
Hemolytic anemia due to glucophosphate isomerase deficiency 0 1 0 0 0 0 0 0 1
Hepatic methionine adenosyltransferase deficiency 0 1 0 0 0 0 0 0 1
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 1 0 0 0 0 0 0 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 0 0 0 0 0 0 1
Hereditary angioneurotic edema 1 0 0 0 0 0 0 0 1
Hereditary ataxia 0 1 0 0 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 1 0 0 0 0 0 1
Hereditary leiomyomatosis and renal cell cancer 0 1 0 0 0 0 0 0 1
Hereditary methemoglobinemia 1 0 0 0 0 0 0 0 1
Hereditary spastic paraplegia 26 1 0 0 0 0 0 0 0 1
Hereditary spastic paraplegia 5A 0 1 0 0 0 0 0 0 1
Hereditary spherocytosis 1 0 0 0 0 0 0 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 0 0 0 0 1
Hidrotic ectodermal dysplasia syndrome 1 0 0 0 0 0 0 0 1
Holt-Oram syndrome 0 1 0 0 0 0 0 0 1
Homocystinuria without methylmalonic aciduria 1 0 0 0 0 0 0 0 1
Hutchinson-Gilford syndrome 0 0 1 0 0 0 0 0 1
Hyaline body myopathy 1 0 0 0 0 0 0 0 1
Hydatidiform mole 1 0 0 0 0 0 0 0 1
Hydatidiform mole, recurrent, 2 0 1 0 0 0 0 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 1 0 0 0 0 0 0 1
Hypercalcemia, infantile, 1 0 1 0 0 0 0 0 0 1
Hyperekplexia 1 0 1 0 0 0 0 0 0 1
Hyperimmunoglobulin D with periodic fever 1 0 0 0 0 0 0 0 1
Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 1 0 0 0 0 0 1
Hypohidrotic ectodermal dysplasia 1 0 0 0 0 0 0 0 1
Hypokalemic periodic paralysis 0 1 0 0 0 0 0 0 1
Hypomyelinating leukodystrophy 10 0 1 0 0 0 0 0 0 1
Hypophosphatemic rickets 0 1 0 0 0 0 0 0 1
Hypothyroidism due to TSH receptor mutations 0 1 0 0 0 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 1 0 0 0 0 0 0 1
Idiopathic bronchiectasis 0 1 0 0 0 0 0 0 1
Immunodeficiency 23 0 1 0 0 0 0 0 0 1
Immunodeficiency 27A 1 0 0 0 0 0 0 0 1
Inborn aminoacylase deficiency 0 1 0 0 0 0 0 0 1
Inborn disorder of lysine and hydroxylysine metabolism 0 0 1 0 0 0 0 0 1
Infantile hypophosphatasia 0 1 0 0 0 0 0 0 1
Inherited hemoglobinopathy 1 0 0 0 0 0 0 0 1
Inherited renal tubular disease 1 0 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 0 0 0 0 1
Intellectual disability, autosomal recessive 57 0 1 0 0 0 0 0 0 1
Interstitial lung disease 2 1 0 0 0 0 0 0 0 1
Iodotyrosyl coupling defect 1 0 0 0 0 0 0 0 1
Joubert syndrome 2 1 0 0 0 0 0 0 0 1
Joubert syndrome 7 0 1 0 0 0 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 1 0 0 0 0 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 0 0 0 0 0 1
Juvenile neuronal ceroid lipofuscinosis 0 1 0 0 0 0 0 0 1
Juvenile polyposis syndrome 0 1 0 0 0 0 0 0 1
Kabuki syndrome 2 0 1 0 0 0 0 0 0 1
Kleefstra syndrome 1 0 0 0 0 0 0 0 1
Kleefstra syndrome due to a point mutation 1 0 0 0 0 0 0 0 1
Lamellar ichthyosis 1 0 0 0 0 0 0 0 1
Late-infantile neuronal ceroid lipofuscinosis 1 0 0 0 0 0 0 0 1
Leber congenital amaurosis 3 0 1 0 0 0 0 0 0 1
Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 0 0 0 0 0 0 1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 1 0 0 0 0 0 0 1
Leukocyte adhesion deficiency type II 0 1 0 0 0 0 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 0 0 0 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 0 0 0 0 1
Macular corneal dystrophy 1 0 0 0 0 0 0 0 1
Malignant hyperthermia of anesthesia; Neuromuscular disease 1 0 0 0 0 0 0 0 1
Mandibuloacral dysplasia 1 0 0 0 0 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 0 1 0 0 0 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 0 1 0 0 0 0 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 0 0 0 0 1
Metachondromatosis 1 0 0 0 0 0 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 0 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 0 0 0 0 0 1
Methylmalonic aciduria, cblB type 1 0 0 0 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 0 0 0 0 1
Microcephaly, short stature, and limb abnormalities 0 1 0 0 0 0 0 0 1
Miller syndrome 0 1 0 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 1 0 0 0 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 1 0 1 0 0 0 0 0 0 1
Mitochondrial neurogastrointestinal encephalomyopathy 1 0 0 0 0 0 0 0 1
Mitochondrial proton-transporting ATP synthase complex deficiency 1 0 0 0 0 0 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 1 0 0 0 0 0 0 1
Mucolipidosis type II 1 0 0 0 0 0 0 0 1
Mucopolysaccharidosis type 6 0 1 0 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 1 0 0 0 0 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 0 0 0 0 0 1
Multiple sulfatase deficiency 0 1 0 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 1 0 0 0 0 0 0 1
Myeloperoxidase deficiency 1 0 0 0 0 0 0 0 1
Myhre syndrome 1 0 0 0 0 0 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 1 0 0 0 0 0 0 1
NAFLD1 1 0 0 0 0 0 0 0 1
Nanophthalmia 0 1 0 0 0 0 0 0 1
Neonatal diabetes mellitus with congenital hypothyroidism 0 1 0 0 0 0 0 0 1
Neonatal-onset encephalopathy with rigidity and seizures 1 0 0 0 0 0 0 0 1
Nephrogenic diabetes insipidus 0 1 0 0 0 0 0 0 1
Nephrotic syndrome, type 2 0 1 0 0 0 0 0 0 1
Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 1 0 0 0 0 0 0 0 1
Neurofibromatosis, type 2 1 0 0 0 0 0 0 0 1
Neutral 1 amino acid transport defect 1 0 0 0 0 0 0 0 1
Niemann-Pick disease, type A 0 1 0 0 0 0 0 0 1
Non-small cell lung carcinoma; Neoplasm of the large intestine 1 0 0 0 0 0 0 0 1
Non-syndromic X-linked intellectual disability 1 0 0 0 0 0 0 0 1
Non-syndromic male infertility due to sperm motility disorder 0 1 0 0 0 0 0 0 1
Nonsyndromic genetic hearing loss; Rare genetic deafness 1 0 0 0 0 0 0 0 1
Oculocutaneous albinism type 3 1 0 0 0 0 0 0 0 1
Oocyte maturation defect 2 0 1 0 0 0 0 0 0 1
Oocyte/zygote/embryo maturation arrest 16 0 1 0 0 0 0 0 0 1
Ornithine aminotransferase deficiency 0 1 0 0 0 0 0 0 1
Orofacial-digital syndrome IV 1 0 0 0 0 0 0 0 1
Orthostatic hypotension 1 1 0 0 0 0 0 0 0 1
Osteogenesis imperfecta type 7 1 0 0 0 0 0 0 0 1
Osteopathia striata with cranial sclerosis 1 0 0 0 0 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 1 0 0 0 0 0 0 0 1
Papillon-Lefèvre syndrome 0 1 0 0 0 0 0 0 1
Permanent neonatal diabetes mellitus 1 0 0 0 0 0 0 0 1
Perrault syndrome 0 1 0 0 0 0 0 0 1
Persistent Mullerian duct syndrome 0 1 0 0 0 0 0 0 1
Pigmentary pallidal degeneration 1 0 0 0 0 0 0 0 1
Pigmentary retinal dystrophy 1 0 0 0 0 0 0 0 1
Polymerase proofreading-related adenomatous polyposis 0 1 0 0 0 0 0 0 1
Porokeratosis 7, multiple types 0 0 1 0 0 0 0 0 1
Posterior column ataxia-retinitis pigmentosa syndrome 0 1 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Brugada syndrome 1 0 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Danon disease 1 0 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Desmin-related myofibrillar myopathy 1 0 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Desmin-related myofibrillar myopathy; Neuromuscular disease 0 1 0 0 0 0 0 0 1
Primary dilated cardiomyopathy; Hutchinson-Gilford syndrome 1 0 0 0 0 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 0 0 0 0 1
Primary hyperoxaluria, type II 1 0 0 0 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 1 0 0 0 0 0 0 0 1
Progressive familial intrahepatic cholestasis type 3 0 0 1 0 0 0 0 0 1
Progressive pseudorheumatoid dysplasia 0 1 0 0 0 0 0 0 1
Prolidase deficiency 1 0 0 0 0 0 0 0 1
Proximal myopathy with extrapyramidal signs 0 1 0 0 0 0 0 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 1 0 0 0 0 0 0 1
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 0 1 0 0 0 0 0 0 1
Pulmonary venoocclusive disease 1 0 1 0 0 0 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 1 0 0 0 0 0 0 1
Pyridoxal phosphate-responsive seizures 0 1 0 0 0 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 0 0 0 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 0 0 0 1
Qualitative or quantitative defects of collagen 6 1 0 0 0 0 0 0 0 1
Rare isolated myopia 0 1 0 0 0 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 0 0 0 0 0 0 1
Renal dysplasia and retinal aplasia 1 0 0 0 0 0 0 0 1
Restrictive cardiomyopathy; Left ventricular noncompaction; Hypertrophic cardiomyopathy 1 0 0 0 0 0 0 0 1
Reticular dysgenesis 0 1 0 0 0 0 0 0 1
Retinal cone dystrophy 4 0 0 1 0 0 0 0 0 1
Retinitis pigmentosa 41 1 0 0 0 0 0 0 0 1
Retinitis pigmentosa; Leber congenital amaurosis 0 1 0 0 0 0 0 0 1
Rett syndrome 1 0 0 0 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 2 0 1 0 0 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 3 0 1 0 0 0 0 0 0 1
Rippling muscle disease 2 0 1 0 0 0 0 0 0 1
Roberts-SC phocomelia syndrome 1 0 0 0 0 0 0 0 1
Rothmund-Thomson syndrome 0 1 0 0 0 0 0 0 1
Rubinstein-Taybi syndrome 1 0 0 0 0 0 0 0 1
Seckel syndrome 0 1 0 0 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 0 0 0 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 1 0 0 0 0 0 0 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly 0 1 0 0 0 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 0 1 0 0 0 0 0 0 1
Shwachman syndrome 1 0 0 0 0 0 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 0 0 0 1
Situs inversus 0 1 0 0 0 0 0 0 1
Sjögren-Larsson syndrome 1 0 0 0 0 0 0 0 1
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 1 0 0 0 0 0 0 1
Sotos syndrome 1 0 0 0 0 0 0 0 1
Spastic paraplegia-Paget disease of bone syndrome 1 0 0 0 0 0 0 0 1
Spinal muscular atrophy 0 1 0 0 0 0 0 0 1
Spinal muscular atrophy with congenital bone fractures 1 1 0 0 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 1 0 0 0 0 0 0 1
Spondyloepiphyseal dysplasia 0 1 0 0 0 0 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 0 0 0 0 0 0 1
Spondyloperipheral dysplasia 0 1 0 0 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 0 0 0 1
Sudden cardiac failure, infantile 1 0 0 0 0 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 0 1 0 0 0 0 0 0 1
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 1 0 0 0 0 0 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 0 0 0 0 1
Testosterone 17-beta-dehydrogenase deficiency 1 0 0 0 0 0 0 0 1
Thyroid hormone metabolism, abnormal 1 0 1 0 0 0 0 0 0 1
Trichohepatoenteric syndrome 0 1 0 0 0 0 0 0 1
Triosephosphate isomerase deficiency 1 0 0 0 0 0 0 0 1
Van Maldergem syndrome 0 1 0 0 0 0 0 0 1
Variegate porphyria 1 0 0 0 0 0 0 0 1
Venous thromboembolism 1 0 0 0 0 0 0 0 1
Vici syndrome 1 0 0 0 0 0 0 0 1
Vitamin D-dependent rickets, type 1 0 1 0 0 0 0 0 0 1
Waardenburg syndrome 1 0 0 0 0 0 0 0 1
Warburg micro syndrome 2 0 1 0 0 0 0 0 0 1
Weill-Marchesani syndrome 0 1 0 0 0 0 0 0 1
Wolfram syndrome 0 1 0 0 0 0 0 0 1
Wolfram syndrome 1; Rare genetic deafness 1 0 0 0 0 0 0 0 1
X-linked agammaglobulinemia 0 1 0 0 0 0 0 0 1
X-linked severe congenital neutropenia 1 0 0 0 0 0 0 0 1
Xeroderma pigmentosum, group G 0 1 0 0 0 0 0 0 1

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