ClinVar Miner

Variants from Mendelics

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

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

pathogenic likely pathogenic uncertain significance likely benign benign total
3747 1379 4001 1935 2104 13165

Gene and significance breakdown #

Total genes and gene combinations: 2553
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 76 24 186 150 62 498
DMD 264 16 25 16 7 328
CFTR 181 28 45 14 14 282
BRCA1 63 12 62 70 47 254
ATM 22 4 135 61 27 249
APC 14 5 146 56 21 242
MSH6 10 6 74 60 22 172
MSH2 19 6 56 38 48 167
ATM, C11orf65 25 9 76 26 24 160
PALB2 26 12 61 36 9 144
NF1 49 10 49 19 7 134
POLE 0 0 69 52 3 124
BRIP1 5 8 67 37 2 119
MLH1 8 8 34 44 15 109
CHEK2 8 16 59 24 1 108
BLM 11 4 51 31 5 102
BARD1 4 2 56 22 9 93
PMS2 4 3 49 25 6 87
MET 1 0 44 32 8 85
MUTYH 12 4 40 18 6 80
CDH1 4 2 35 23 15 79
RET 2 0 43 21 13 79
PHEX 58 10 3 0 0 71
MEFV 2 0 60 0 2 64
POLD1 0 0 24 38 2 64
SCN1A 39 14 8 1 1 63
TP53 14 11 13 14 11 63
RAD51D, RAD51L3-RFFL 3 4 33 18 1 59
ABCA4 37 8 7 4 2 58
NBN 3 2 31 19 3 58
FBN1 20 14 8 5 6 53
SCN5A 4 0 29 6 13 52
F8 31 5 11 0 4 51
RB1 5 3 19 9 15 51
STK11 3 1 19 21 6 50
USH2A 16 11 5 1 17 50
EGFR 1 0 22 22 4 49
LOC102724058, SCN1A 26 8 4 4 7 49
MYBPC3 3 0 28 3 13 47
PTEN 6 7 16 11 7 47
TSC2 21 4 5 10 7 47
RAD51C 2 7 21 13 3 46
CFTR, LOC111674472 27 3 14 0 1 45
RECQL 2 10 13 16 4 45
ADGRE2 1 0 0 0 43 44
PKD1 17 3 9 4 10 43
PHEX, PTCHD1 29 12 0 0 0 41
CDKN2A 1 2 17 16 4 40
NF2 12 1 15 5 5 38
MECP2 19 4 5 3 5 36
RYR1 6 5 12 0 13 36
LOC126862264, MEFV 3 1 31 0 0 35
SCN2A 14 12 5 1 3 35
AOPEP, FANCC 5 1 9 17 2 34
BRCA1, LOC126862571 9 0 9 11 5 34
FANCM 2 1 15 15 1 34
LDLR 13 1 17 0 3 34
G6PD 28 1 2 0 0 31
SHOX 9 0 21 0 0 30
KMT2D 9 2 8 4 5 28
MEN1 3 2 11 8 4 28
TTN 18 0 4 2 4 28
COL2A1 12 10 2 0 3 27
COL7A1 13 9 5 0 0 27
ATP7B 9 4 7 2 4 26
CRB1 12 7 3 4 0 26
CDKL5 16 5 1 2 1 25
LPL 10 1 13 0 1 25
RPGR 14 6 3 2 0 25
ABCB4 10 6 7 0 1 24
CCDST, FLG 20 4 0 0 0 24
EYS 15 1 4 0 4 24
MT-CYB 2 0 1 0 21 24
MYO7A 9 2 8 0 5 24
FANCC 4 0 4 14 1 23
NSD1 12 2 3 1 5 23
NTRK1 0 1 16 6 0 23
BAP1 1 0 12 7 2 22
KCNH2 6 0 11 0 5 22
LAMA2 15 3 0 1 3 22
LOC107982234, WT1 1 0 17 1 3 22
SCN8A 9 10 2 1 0 22
BTD 13 4 3 1 0 21
KCNQ2 11 6 0 1 3 21
PCDH19 13 6 1 1 0 21
PIK3CA 1 1 9 8 2 21
TSC1 10 0 4 4 3 21
CACNA1A 6 4 4 2 4 20
EYS, PHF3 18 0 1 1 0 20
KCNN3 0 0 0 0 20 20
PLA2G6 10 8 1 0 1 20
SLX4 2 2 9 4 3 20
AR 12 0 2 0 5 19
COL4A5 7 4 4 0 4 19
GRIN2A 2 4 5 7 1 19
GRIN2B 8 8 2 1 0 19
KMT2A 13 4 1 1 0 19
NOTCH3 7 1 5 1 5 19
ABCD1, PLXNB3 6 6 2 1 3 18
ADGRV1 5 1 4 0 8 18
COL1A1 11 3 1 2 1 18
PHKA2 9 5 4 0 0 18
XRCC2 0 0 15 3 0 18
CFTR, LOC111674475 15 1 1 0 0 17
EP300 3 3 5 4 2 17
FANCD2, LOC107303338 1 0 2 6 8 17
GJB1 10 3 3 1 0 17
MVP-DT, PRRT2 13 1 0 1 2 17
SLC2A1 15 1 1 0 0 17
APOB 5 2 5 0 4 16
ATP7A 5 4 3 2 2 16
CHD7 9 1 2 2 2 16
KCNT1 4 1 3 4 4 16
OTC 7 4 3 0 2 16
PKHD1 5 4 3 0 4 16
POLG 5 2 2 4 3 16
SDHB 1 1 8 5 1 16
ARID1B 8 0 4 1 2 15
CEP290 7 3 2 1 2 15
COL6A3 2 2 6 0 5 15
GALC 6 6 1 0 2 15
GLA, RPL36A-HNRNPH2 6 3 2 3 1 15
GUCY2D 7 1 5 0 2 15
SPAST 10 3 1 0 1 15
SPG11 9 1 3 1 1 15
ADCY5 2 5 3 2 2 14
AGL 10 2 2 0 0 14
ANO5 3 1 3 2 5 14
CDH23 0 1 5 1 7 14
DYNC1H1 2 7 4 1 0 14
GALT 4 5 2 0 3 14
NKX2-1, SFTA3 5 2 5 1 1 14
PCSK9 1 0 10 0 3 14
PRPH2 7 2 2 1 2 14
PTCH1 6 0 3 3 2 14
TTR 9 2 1 1 1 14
CASK 6 3 2 1 1 13
COL1A2 6 5 1 0 1 13
CPS1 6 3 2 1 1 13
EHMT1 6 1 3 2 1 13
GJB2 8 0 1 0 4 13
HBB, LOC106099062, LOC107133510 8 0 1 0 4 13
LPAR6, RB1 1 0 1 2 9 13
LRRK2 1 0 9 2 1 13
MFN2 2 5 4 1 1 13
MYH7 1 4 6 1 1 13
NOTCH1 0 1 3 6 3 13
NPC1 9 2 0 1 1 13
PAH 8 1 2 0 2 13
VPS13B 4 0 2 4 3 13
ZEB2 7 1 3 2 0 13
ACADVL 5 2 4 0 1 12
AKT1 0 1 5 2 4 12
ATP1A3 3 4 4 0 1 12
CACNA1C 3 1 5 0 3 12
CASR 2 2 4 1 3 12
CHD2 4 2 6 0 0 12
CLN6 8 3 0 0 1 12
ECHS1 7 5 0 0 0 12
FANCA 2 0 6 3 1 12
HNF1A 1 1 5 1 4 12
KIF1A 2 3 3 2 2 12
OPA1 2 4 4 0 2 12
PKP2 0 1 3 0 8 12
RP1L1 0 0 3 6 3 12
SCN10A 0 0 6 4 2 12
SMARCA4 2 0 5 4 1 12
STXBP1 8 3 1 0 0 12
VWF 5 0 5 0 2 12
WFS1 2 1 2 1 6 12
ABCC8 3 2 3 2 1 11
ALMS1 8 0 0 0 3 11
COL6A2 4 1 1 1 4 11
CREBBP 2 1 4 3 1 11
EPCAM 0 0 2 2 7 11
GNAO1 5 4 2 0 0 11
PRF1 3 2 3 2 1 11
PYROXD1, RECQL 0 0 10 0 1 11
RPE65 7 3 0 0 1 11
RPGRIP1 3 2 3 0 3 11
ABCD1 3 1 4 2 0 10
ARSA 6 0 1 1 2 10
BRAF 3 5 0 1 1 10
CFTR, LOC111674477 4 3 3 0 0 10
CLCNKB, LOC106501713 7 1 1 0 1 10
CYP21A2, LOC106780800 6 0 3 0 1 10
DICER1 0 0 5 4 1 10
FOXP1 4 3 3 0 0 10
GCDH 6 3 0 0 1 10
HNRNPU 7 1 2 0 0 10
INSR 0 0 1 7 2 10
LOC107652445, SHOX 3 0 7 0 0 10
MMUT 6 1 2 1 0 10
MT-TL1 8 0 2 0 0 10
PDE6A 9 0 0 0 1 10
PRPF31 8 1 1 0 0 10
SLC6A1 2 5 3 0 0 10
SYNGAP1 7 2 1 0 0 10
UNC13D 4 0 1 3 2 10
WT1 2 1 3 3 1 10
WWOX 6 1 2 0 1 10
ACADM 5 1 3 0 0 9
ACAN 3 1 1 2 2 9
ADNP 5 1 2 1 0 9
CAPN3 6 0 2 0 1 9
CHM 8 0 1 0 0 9
CLN8 0 5 4 0 0 9
COL4A3, MFF-DT 1 0 7 0 1 9
ERCC3 2 1 1 1 4 9
ETFDH 4 4 0 0 1 9
FGFR3 6 0 0 3 0 9
G6PC1 5 4 0 0 0 9
GLB1 5 1 3 0 0 9
GLDC 4 3 0 1 1 9
IQSEC2 6 0 2 0 1 9
KANSL1 2 1 3 2 1 9
KCNB1 3 5 0 0 1 9
LMNA 2 4 2 0 1 9
MBD5 0 0 5 2 2 9
MFSD8 4 4 1 0 0 9
MT-TS1 6 0 3 0 0 9
NEB 3 3 1 0 2 9
NEB, RIF1 6 1 2 0 0 9
NIPBL 4 2 1 1 1 9
PCCB 7 0 1 0 1 9
PROM1 7 0 2 0 0 9
PTPN11 3 0 2 2 2 9
PURA 5 2 2 0 0 9
RARS2 5 3 1 0 0 9
RECQL4 2 2 3 2 0 9
SCN1A, SCN9A 2 2 0 3 2 9
SERPINA1 4 1 3 0 1 9
SNHG14, UBE3A 4 5 0 0 0 9
SOS1 0 2 6 1 0 9
TCF4 7 1 0 1 0 9
TERT 0 0 5 2 2 9
TGFBR2 4 0 0 1 4 9
WRN 1 1 2 2 3 9
APOA5 2 0 6 0 0 8
ARID1A 0 2 2 1 3 8
ARX 5 2 1 0 0 8
BTK 4 1 0 3 0 8
CC2D2A 3 2 0 1 2 8
COL3A1 1 0 2 1 4 8
COL4A4 3 1 3 0 1 8
COMP 2 4 2 0 0 8
CPLANE1 6 2 0 0 0 8
CRX 3 2 1 2 0 8
DEAF1 2 2 3 0 1 8
DYNC2H1 1 2 2 0 3 8
ELANE 3 1 3 0 1 8
ERCC2 3 0 2 2 1 8
FAH 3 1 3 0 1 8
FBN2 1 0 2 2 3 8
GALNS 3 3 1 0 1 8
GPHN, RDH12 5 3 0 0 0 8
INSRR, NTRK1 0 0 5 2 1 8
KIF1B 0 0 5 3 0 8
MT-ND1 6 0 2 0 0 8
MYOC 1 0 2 0 5 8
RHO 4 4 0 0 0 8
SDHA 0 2 0 3 3 8
SLC22A5 7 1 0 0 0 8
SYNE1 1 0 3 1 3 8
TPP1 5 1 0 1 1 8
UROD 3 0 5 0 0 8
WAS 4 0 3 1 0 8
ABCC6 2 2 1 0 2 7
AHI1 2 2 2 0 1 7
ATL1 3 4 0 0 0 7
BIVM-ERCC5, ERCC5 1 0 3 2 1 7
BMP15 5 0 1 0 1 7
CDK4, TSPAN31 0 0 4 2 1 7
CLCN1 2 1 3 0 1 7
CLN5 2 3 1 1 0 7
COL10A1, NT5DC1 0 2 2 0 3 7
COL4A2 0 1 3 0 3 7
COL5A1 2 2 2 0 1 7
CYP27A1 3 2 1 1 0 7
DDC 3 3 0 1 0 7
DEPDC5 0 3 2 2 0 7
DNM1L 2 1 2 2 0 7
DOK7 4 1 0 0 2 7
DYSF 1 0 3 1 2 7
ERCC4 0 0 2 5 0 7
F9 3 1 2 0 1 7
FGFR2 3 1 1 2 0 7
FLCN 2 0 2 2 1 7
GATA2 1 3 1 2 0 7
GCH1 3 2 1 0 1 7
GCK 3 2 2 0 0 7
JAG1 3 0 2 1 1 7
KMT2C 1 0 3 0 3 7
KMT2E 0 2 4 0 1 7
MAPT 3 0 1 1 2 7
MKKS 3 0 0 0 4 7
MPZ 2 5 0 0 0 7
MT-ATP6 6 0 1 0 0 7
MT-TK 4 0 3 0 0 7
MYH2, MYHAS 1 0 4 0 2 7
NDUFS1 0 3 2 0 2 7
OCRL 2 1 2 0 2 7
PCDH15 3 0 0 0 4 7
PHKG2 4 2 1 0 0 7
PRNP 1 0 3 1 2 7
PRSS1, TRB 2 1 1 0 3 7
RAF1 1 2 1 1 2 7
RNF213 4 0 2 0 1 7
SACS 3 3 0 1 0 7
SALL1 1 0 4 1 1 7
SETX 1 2 1 0 3 7
SLC12A3 2 1 2 0 2 7
SLC13A5 2 2 3 0 0 7
SLC37A4 3 3 0 0 1 7
SLC4A1 1 1 2 0 3 7
SLC6A5 1 0 3 0 3 7
SMC1A 3 4 0 0 0 7
SPG7 4 1 1 0 1 7
SPTAN1 2 0 4 0 1 7
TCF20 1 0 2 0 4 7
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 4 3 0 0 0 7
VHL 0 1 5 0 1 7
AARS1 3 0 0 1 2 6
AARS2 4 1 0 0 1 6
ADAMTS13 1 0 1 0 4 6
ADSL 3 3 0 0 0 6
AGXT 2 1 0 2 1 6
AHDC1 2 0 2 2 0 6
ALDH7A1 1 1 1 1 2 6
ANK2 0 0 2 2 2 6
ANK3 1 0 2 1 2 6
ANKRD11, TRAPPC2L 2 2 0 2 0 6
ASL 4 1 0 1 0 6
ASXL1 2 0 4 0 0 6
ASXL3 3 1 1 1 0 6
ATP6V0A4 1 3 1 0 1 6
ATP8B1 0 4 2 0 0 6
ATR 0 0 4 1 1 6
AVPR2 1 1 4 0 0 6
AXIN2 0 0 2 3 1 6
BCKDHB 2 3 1 0 0 6
BRCA1, LOC111589215 1 0 0 4 1 6
BRCA2, LOC106721785 0 0 1 5 0 6
BSCL2, HNRNPUL2-BSCL2 5 1 0 0 0 6
CASP10 1 0 2 1 2 6
CDK4 0 0 4 2 0 6
COL11A1 2 0 2 0 2 6
COL4A1 2 3 0 0 1 6
CPT2 4 0 0 0 2 6
DDX3X 6 0 0 0 0 6
DSP 2 0 1 0 3 6
DUOX2 2 0 2 0 2 6
EBF3 2 2 1 0 1 6
ERCC6 2 0 2 1 1 6
FANCI 0 1 1 4 0 6
FUS 0 1 3 0 2 6
GAA 4 0 1 0 1 6
GBA1, LOC106627981 3 0 3 0 0 6
GLI3 1 1 0 3 1 6
HEXA 3 2 0 1 0 6
HPRT1 2 2 1 1 0 6
HS6ST1 0 0 2 3 1 6
HSPG2 1 2 0 2 1 6
IFIH1 1 1 0 3 1 6
KAT6B 2 2 0 2 0 6
L1CAM 1 1 0 1 3 6
LOC130062899, STK11 0 0 5 1 0 6
MERTK 3 2 0 0 1 6
MT-ND5 5 0 0 0 1 6
MYH3 0 0 2 1 3 6
MYH9 2 1 2 1 0 6
MYO15A 2 0 2 2 0 6
NFIX 5 0 0 1 0 6
NOTCH2 1 0 1 2 2 6
PDHA1 3 1 0 1 1 6
PIEZO2 5 0 0 0 1 6
PIGA 2 2 2 0 0 6
PIGN 3 1 1 0 1 6
POGZ 2 2 1 1 0 6
PROKR2 1 0 4 1 0 6
PYGL 2 1 2 0 1 6
RAI1 1 1 0 1 3 6
RBPJ 0 0 6 0 0 6
RP1 6 0 0 0 0 6
RTEL1, RTEL1-TNFRSF6B 0 1 4 0 1 6
RYR2 0 0 2 1 3 6
SETBP1 0 0 2 2 2 6
SFTPC 0 1 3 0 2 6
SH2B3 1 0 2 2 1 6
SH3TC2 4 0 1 0 1 6
SLC16A2 4 2 0 0 0 6
SLC26A4 1 2 1 1 1 6
SLC34A3 2 0 1 1 2 6
SMARCA2 1 1 1 1 2 6
SPTA1 2 2 1 0 1 6
SUCLG1 5 0 1 0 0 6
SUOX 0 5 0 1 0 6
TCOF1 3 0 1 1 1 6
TRPV4 0 0 1 3 2 6
TULP1 2 2 0 0 2 6
UNC80 2 0 3 0 1 6
VEGFC 0 0 0 0 6 6
WNT10A 2 0 3 1 0 6
ABCB11 1 3 0 0 1 5
ACBD6, LHX4 0 0 0 3 2 5
ACTA1 2 3 0 0 0 5
ARSB 4 0 1 0 0 5
ATF6 1 0 1 1 2 5
ATP1A2 1 2 1 1 0 5
ATRX 0 3 2 0 0 5
BAG3 0 0 0 0 5 5
BCS1L 2 2 0 0 1 5
BRPF1 3 0 2 0 0 5
BUB1B 0 0 0 2 3 5
CACNA1D 0 1 2 2 0 5
CACNA1F 0 0 2 2 1 5
CAV3, OXTR 0 0 2 2 1 5
CDH15 0 0 2 3 0 5
CDHR1 1 0 4 0 0 5
CDKN2A, LOC130001603 1 0 1 2 1 5
CERKL 1 2 1 0 1 5
CFI 1 0 2 1 1 5
CIC 0 1 3 1 0 5
CNGB3 2 1 0 0 2 5
COL11A2 2 0 1 1 1 5
COL18A1 2 0 0 0 3 5
CRIPAK, LOC126806945, UVSSA 0 0 0 0 5 5
CSF2RA 5 0 0 0 0 5
CSNK2B 2 3 0 0 0 5
CTNNB1 4 0 0 1 0 5
DARS2 2 1 1 0 1 5
DBT 4 1 0 0 0 5
DCLRE1C 2 0 1 0 2 5
DNMT3A 2 1 1 1 0 5
DSG2 2 0 1 0 2 5
EARS2 2 0 3 0 0 5
EBP 2 0 3 0 0 5
EDA 0 1 4 0 0 5
EIF2B5 4 1 0 0 0 5
ELAC2 2 0 1 0 2 5
EPG5 3 0 1 0 1 5
EXT1 1 0 2 1 1 5
F11 4 0 1 0 0 5
FANCD2, FANCD2OS 1 0 2 1 1 5
FAS 4 0 1 0 0 5
FASLG 0 0 2 3 0 5
FASTKD2 3 1 1 0 0 5
FBXO11, MSH6 0 0 3 1 1 5
FECH 1 3 0 0 1 5
FGD1 2 0 2 1 0 5
FOXG1 2 1 2 0 0 5
GAS2L2 0 0 0 0 5 5
GATA4 0 0 1 0 4 5
GBE1 2 1 1 0 1 5
GFAP 2 1 1 1 0 5
GNAS 2 0 3 0 0 5
GRN 4 0 0 0 1 5
HFE 2 1 2 0 0 5
HSD17B4 3 1 0 0 1 5
IDS, LOC106050102 2 1 1 0 1 5
IDUA, SLC26A1 1 0 1 1 2 5
IGHMBP2 4 1 0 0 0 5
ITPR1 1 1 1 0 2 5
LOC100507346, PTCH1 2 1 1 1 0 5
LOC107303340, VHL 1 1 3 0 0 5
LOC110121269, SCN5A 0 0 4 0 1 5
LOC122152296, USH2A 3 0 0 0 2 5
LZTR1 1 2 2 0 0 5
MED12 0 2 2 0 1 5
MED12L, P2RY12 1 0 2 0 2 5
MEF2C 3 1 1 0 0 5
MORC2 3 0 2 0 0 5
MSH3 0 1 3 1 0 5
MT-ND6 3 0 1 0 1 5
MT-TF 3 0 2 0 0 5
MT-TV 3 0 2 0 0 5
MTR 1 2 0 1 1 5
MYO5B 3 2 0 0 0 5
NAGLU 3 2 0 0 0 5
NBAS 0 4 0 1 0 5
NPHP4 0 0 1 1 3 5
NPHS1 1 2 1 1 0 5
PAFAH1B1 3 2 0 0 0 5
PCCA 4 0 1 0 0 5
PDE6B 3 0 0 0 2 5
PEX6 2 1 0 0 2 5
PPP2R5D 2 1 1 1 0 5
PYGM 1 1 2 0 1 5
RAD50 0 0 1 3 1 5
RP2 2 1 1 0 1 5
SETD5 1 2 2 0 0 5
SGCB 4 1 0 0 0 5
SLC12A5 0 0 0 1 4 5
SRCAP 0 0 0 4 1 5
TBX22 0 0 3 0 2 5
TBX5 2 0 0 1 2 5
TMEM67 1 0 2 0 2 5
TNFRSF13B 2 1 2 0 0 5
TNFRSF1A 1 0 2 0 2 5
TNNT2 0 0 2 0 3 5
TSEN54 1 1 1 0 2 5
TYR 3 0 0 1 1 5
UMOD 2 1 2 0 0 5
WDR19 3 0 2 0 0 5
WDR26 4 1 0 0 0 5
WDR45 4 1 0 0 0 5
XIAP 3 0 0 0 2 5
​intergenic 0 0 0 0 4 4
ABCA3 2 0 0 0 2 4
ABCA4, LOC126805793 3 1 0 0 0 4
ABCA4, LOC126805794 2 0 2 0 0 4
ADAMTSL4 4 0 0 0 0 4
AIRE 2 0 1 0 1 4
ALDH3A2 3 0 0 0 1 4
ALK 0 0 2 2 0 4
AMACR, C1QTNF3-AMACR 0 0 2 0 2 4
AMT 2 1 0 1 0 4
ANKRD11 0 1 2 0 1 4
ANOS1 0 0 4 0 0 4
ARG1, MED23 2 2 0 0 0 4
ASS1 1 0 1 1 1 4
ATP2A2 0 0 1 0 3 4
AUTS2 1 0 1 2 0 4
BBS2 2 0 1 0 1 4
BEST1 1 1 0 0 2 4
BICRA 1 0 1 0 2 4
BMPR1A 1 0 1 0 2 4
BPTF 0 1 3 0 0 4
CABIN1 0 0 1 0 3 4
CACNA1E 2 0 1 0 1 4
CACNA1G 0 0 1 0 3 4
CACNA1S 1 1 1 1 0 4
CBL 0 1 1 1 1 4
CBS 0 0 2 1 1 4
CDK4, LOC130008148 0 0 3 0 1 4
CDKL5, RS1 0 0 3 0 1 4
CFB 0 0 1 1 2 4
CHD8 2 0 2 0 0 4
CLCN5 2 0 2 0 0 4
CLN3 3 1 0 0 0 4
CLTC 2 0 2 0 0 4
CNGA3 3 1 0 0 0 4
COL1A1, LOC126862586 2 1 1 0 0 4
COL6A1 2 1 1 0 0 4
COL9A1 0 0 2 1 1 4
COL9A3 0 0 2 0 2 4
COLQ 3 0 0 0 1 4
COQ8A 4 0 0 0 0 4
CSNK2A1 2 2 0 0 0 4
CTCF 2 0 1 1 0 4
CYBB 1 1 1 1 0 4
DDX11 0 0 1 1 2 4
DDX41 0 0 3 1 0 4
DES 2 0 1 0 1 4
DGAT1 4 0 0 0 0 4
DGUOK 2 2 0 0 0 4
DHTKD1 0 1 1 1 1 4
DIAPH3 0 0 2 1 1 4
DOCK7 0 2 2 0 0 4
DOCK8 0 1 3 0 0 4
DPP6 0 0 3 0 1 4
DYRK1A 3 0 0 0 1 4
ELN 0 1 2 0 1 4
FANCL 1 0 2 1 0 4
FAT1 0 0 0 0 4 4
FBP1 3 1 0 0 0 4
FBXL4 2 2 0 0 0 4
FH 1 1 0 1 1 4
FIG4 3 0 0 0 1 4
FLNB 1 1 1 1 0 4
FLNC 1 1 2 0 0 4
GABRA1 2 2 0 0 0 4
GABRB3 1 1 1 0 1 4
GALK1 0 2 1 0 1 4
GAMT 2 1 1 0 0 4
GARS1 2 0 1 0 1 4
GATA3 3 0 1 0 0 4
GATAD2B 2 1 1 0 0 4
GJC2 0 3 1 0 0 4
GNPTAB 1 2 0 1 0 4
GRIA3 1 1 0 1 1 4
GRIN1 2 0 1 1 0 4
HAFML, VEGFC 0 0 0 0 4 4
HBB, LOC107133510, LOC110006319 1 0 0 1 2 4
HCN1 0 0 2 2 0 4
HERC2 0 2 2 0 0 4
HK1 2 2 0 0 0 4
HMBS 3 0 0 0 1 4
HMCN1 0 0 1 0 3 4
HNF4A 2 0 2 0 0 4
HUWE1 1 0 2 1 0 4
IDUA 0 1 2 1 0 4
IFNGR1 2 1 1 0 0 4
IL2RG 3 1 0 0 0 4
IQCB1 1 0 0 0 3 4
JAK3 2 1 0 1 0 4
JMJD1C 0 0 2 0 2 4
KAT6A 0 0 0 3 1 4
KCNQ1 2 0 1 0 1 4
KLHL7 1 0 0 0 3 4
KPTN 2 1 1 0 0 4
LIX1L, LOC126805851, RBM8A 4 0 0 0 0 4
LOC126860438, NBN 0 1 1 2 0 4
LOC126863256, WDR45 3 1 0 0 0 4
LRBA 1 2 1 0 0 4
LRP5 1 1 0 1 1 4
MED25 0 2 1 0 1 4
MRE11 2 1 0 1 0 4
MT-CO1, MT-TS1 4 0 0 0 0 4
MT-TA 3 0 1 0 0 4
MT-TE 3 0 1 0 0 4
MT-TI 4 0 0 0 0 4
MT-TR 3 0 1 0 0 4
MT-TS2 3 0 1 0 0 4
MT-TW 4 0 0 0 0 4
MTRR 3 0 1 0 0 4
MYH6 0 0 2 0 2 4
MYT1L 0 3 0 0 1 4
NKX2-5 0 0 1 2 1 4
NR4A2 1 1 2 0 0 4
NTHL1 0 1 2 1 0 4
OCA2 2 0 0 0 2 4
OTX2 0 0 3 1 0 4
PADI3 2 0 2 0 0 4
PANK2 2 2 0 0 0 4
PDE6C 1 0 2 0 1 4
PDX1 0 0 1 1 2 4
PGAP2 0 1 3 0 0 4
PIGT 1 2 0 1 0 4
PLD3, PRX 3 0 0 0 1 4
PLP1, RAB9B 3 1 0 0 0 4
PLXNA3 0 0 2 0 2 4
PMM2 4 0 0 0 0 4
PNKP 2 1 0 0 1 4
POMGNT1, TSPAN1 0 2 0 1 1 4
POT1 0 0 4 0 0 4
PPM1D 3 0 1 0 0 4
PROS1 0 0 1 0 3 4
PSEN2 0 0 1 0 3 4
PTCH2 0 0 3 1 0 4
PUF60 4 0 0 0 0 4
QRICH1 2 0 1 0 1 4
RAD54L 0 0 3 1 0 4
RBM20 0 0 1 1 2 4
REEP1 0 0 3 0 1 4
RPS6KA3 2 1 0 0 1 4
SAMD9 0 0 4 0 0 4
SBDS 2 2 0 0 0 4
SCNN1G 0 0 2 0 2 4
SLC35A2 1 3 0 0 0 4
SLC52A3 3 0 0 1 0 4
SLC5A1 3 1 0 0 0 4
SLC6A8 2 0 2 0 0 4
SMC3 1 2 0 1 0 4
SNRNP200 1 1 1 1 0 4
SPATA7 1 0 0 0 3 4
SPINK1 0 1 1 1 1 4
SPTBN1 0 2 2 0 0 4
STAT1 1 1 1 1 0 4
STX11 3 0 1 0 0 4
STXBP2 2 1 0 0 1 4
SURF1 4 0 0 0 0 4
TAF1 2 0 2 0 0 4
TBL1XR1 1 3 0 0 0 4
TBXAS1 1 0 1 0 2 4
TCN2 1 0 0 1 2 4
TGFBI 0 0 3 0 1 4
TGIF1 0 0 2 0 2 4
TGM5 2 2 0 0 0 4
TGM6 0 0 2 0 2 4
TH 2 2 0 0 0 4
TMLHE 1 0 3 0 0 4
TRIO 1 1 2 0 0 4
TRIP12 1 1 2 0 0 4
USP9X 0 1 3 0 0 4
VARS2 2 0 0 0 2 4
VDR 2 0 1 0 1 4
VPS33B 2 0 1 0 1 4
WDFY3 0 1 0 0 3 4
WDR87 0 0 0 0 4 4
WHRN 0 0 0 0 4 4
XPC 0 0 2 1 1 4
ZBTB20 1 1 0 2 0 4
ZFHX3 0 0 1 0 3 4
ZFYVE26 3 0 0 0 1 4
ZNF292 0 0 0 0 4 4
A2ML1 0 0 2 0 1 3
AAAS 3 0 0 0 0 3
ABCB6 0 0 3 0 0 3
ACOX1 2 0 0 0 1 3
ACTG1 0 3 0 0 0 3
ADAMTS2 1 1 0 0 1 3
ADAMTSL2 0 0 1 0 2 3
ADAR 2 1 0 0 0 3
AFF2 0 0 1 2 0 3
AFF4 0 0 1 1 1 3
AGPAT2 3 0 0 0 0 3
AIPL1 0 0 0 2 1 3
ALAS2 0 0 1 1 1 3
ALDOB 2 1 0 0 0 3
ALG13 2 0 1 0 0 3
ALS2 1 2 0 0 0 3
AMER1 0 1 1 1 0 3
ANK1 0 0 0 1 2 3
APOL1 0 2 0 0 1 3
APTX 1 0 0 1 1 3
ARID2 1 0 2 0 0 3
ARL13B 0 0 0 1 2 3
ARMC5 0 0 1 1 1 3
ASAH1 0 0 0 0 3 3
ASNS, CZ1P-ASNS 0 2 0 0 1 3
ATP13A2 1 0 2 0 0 3
ATP6V1B1 2 1 0 0 0 3
ATP8A2 1 1 1 0 0 3
BBS10 2 0 1 0 0 3
BBS9 2 0 0 0 1 3
BCL2L2-PABPN1, PABPN1 3 0 0 0 0 3
BCORL1 0 0 3 0 0 3
BICD2 0 0 1 0 2 3
BLK 0 0 2 0 1 3
BMP4 0 0 1 1 1 3
BRWD3 0 0 1 1 1 3
C17orf107, CHRNE 2 0 1 0 0 3
C3 0 1 1 0 1 3
CACNA1B 0 0 0 2 1 3
CAD 1 1 0 1 0 3
CASD1, SGCE 3 0 0 0 0 3
CCDC40 0 0 2 1 0 3
CDKN1B 0 0 1 1 1 3
CDON 0 0 2 0 1 3
CERS1, GDF1 0 1 1 1 0 3
CFC1 0 0 1 0 2 3
CHCHD10 0 0 0 0 3 3
CHD4 0 1 1 0 1 3
CHRND 0 1 0 0 2 3
CHROMR, PRKRA 2 0 0 1 0 3
CLCN2 1 0 2 0 0 3
CLCN7 2 0 1 0 0 3
CNGA1, LOC101927157 1 1 1 0 0 3
CNGB1 2 0 0 1 0 3
CNOT3 1 1 1 0 0 3
CNTNAP2 1 0 0 0 2 3
COL18A1, SLC19A1 0 0 0 2 1 3
COL5A2 0 0 2 1 0 3
CP 1 0 1 1 0 3
CTC1 1 0 2 0 0 3
CTNND2 0 0 2 0 1 3
CTNS 2 0 0 1 0 3
CTRC 1 0 2 0 0 3
CTSK 1 1 1 0 0 3
CUL4B 1 0 2 0 0 3
CYP4V2 1 1 0 0 1 3
DCC 0 0 1 1 1 3
DCTN1 0 0 2 0 1 3
DHX30 2 0 1 0 0 3
DIAPH1 0 0 2 1 0 3
DNAJC3 0 0 3 0 0 3
DNM2 1 0 2 0 0 3
DOCK2 0 0 2 0 1 3
DPAGT1 0 3 0 0 0 3
DPYD 0 0 0 1 2 3
EGR2 1 0 1 0 1 3
EIF2AK3 0 0 0 0 3 3
ELP4, PAX6 0 0 2 1 0 3
ENG 0 0 2 0 1 3
EXT2 0 0 0 3 0 3
F13A1 0 0 3 0 0 3
F5 1 0 1 1 0 3
FANCA, ZNF276 0 1 2 0 0 3
FAT4 0 0 1 0 2 3
FGA 0 0 2 0 1 3
FGG 2 0 1 0 0 3
FLNA 0 0 2 0 1 3
FLT4 0 0 1 1 1 3
FLVCR1 1 1 0 0 1 3
FOXL2 1 0 1 0 1 3
FREM1 0 0 1 0 2 3
FREM2 0 0 0 0 3 3
FRMD7 1 0 1 0 1 3
GABRB2 0 1 2 0 0 3
GALE 0 1 1 1 0 3
GALT, LOC130001683 3 0 0 0 0 3
GCDH, LOC126862860, SYCE2 0 1 0 0 2 3
GDAP1 1 1 1 0 0 3
GFI1 0 0 0 3 0 3
GFM1 0 1 1 0 1 3
GH-LCR, GH1 1 0 1 0 1 3
GJB4 1 0 2 0 0 3
GLI2 1 0 0 0 2 3
GNB5 3 0 0 0 0 3
GPAA1 2 1 0 0 0 3
GPHN, RDH12, ZFYVE26 0 2 1 0 0 3
GRIA2 1 1 1 0 0 3
GUCY2C 0 0 0 2 1 3
GUSB 0 0 3 0 0 3
H1-4 2 0 1 0 0 3
HADH 2 1 0 0 0 3
HADHB 1 1 0 0 1 3
HDAC4 0 0 1 1 1 3
HDAC8 2 0 1 0 0 3
HESX1 0 0 1 2 0 3
HGSNAT 0 0 1 1 1 3
HLCS 2 1 0 0 0 3
HMGCL 2 0 1 0 0 3
HNF1B 0 0 2 0 1 3
HNRNPK 1 2 0 0 0 3
HSALR1, PIEZO1 0 0 1 0 2 3
IRF2BPL 2 0 1 0 0 3
ITGB2 0 0 0 2 1 3
IVD 3 0 0 0 0 3
KALRN 0 0 0 0 3 3
KBTBD13 0 0 1 0 2 3
KCNA2 1 1 1 0 0 3
KCNJ2 0 1 1 0 1 3
KCNK12, MSH2 0 0 1 2 0 3
KCNQ3 1 0 1 0 1 3
KCNQ4 1 0 1 0 1 3
KCNT2 1 1 1 0 0 3
KDM5C 2 1 0 0 0 3
KDM6B 0 0 3 0 0 3
KIAA0586 1 0 0 0 2 3
KIF22 0 1 1 0 1 3
KIT 0 0 2 1 0 3
KRT14 0 3 0 0 0 3
KRT8 0 0 0 0 3 3
LAMA1 0 0 0 0 3 3
LAMP2 1 0 1 1 0 3
LCA5 1 0 0 0 2 3
LDB3 0 0 0 0 3 3
LMF1 2 0 1 0 0 3
LOC129931299, WARS2 1 2 0 0 0 3
LOC130004273, PTEN 0 0 1 1 1 3
LOC130009266, POLE 0 0 1 2 0 3
LOC130061310, RAD51C 0 0 0 3 0 3
LOC130065345, PANK2 1 1 0 0 1 3
LOXHD1 0 0 0 0 3 3
LRAT 0 2 1 0 0 3
LRSAM1 0 1 1 0 1 3
LYST 0 0 1 1 1 3
MACF1 1 0 1 0 1 3
MAF, WWOX 0 0 2 1 0 3
MAGEL2 3 0 0 0 0 3
MAMLD1 0 0 2 0 1 3
MMACHC 2 0 1 0 0 3
MOCS1 0 0 0 3 0 3
MPL 1 0 2 0 0 3
MT-TH 1 0 2 0 0 3
MTHFR 1 0 0 1 1 3
MTM1 2 0 0 0 1 3
MTOR 1 1 0 1 0 3
MUTYH, TOE1 0 0 0 3 0 3
MVK 1 1 0 1 0 3
MYF6 0 0 2 0 1 3
MYH11, NDE1 1 0 1 1 0 3
MYO3A 1 0 0 0 2 3
NAA10 1 2 0 0 0 3
NALCN 1 0 0 0 2 3
NCF4 0 1 0 1 1 3
NEXMIF 2 1 0 0 0 3
NEXN 0 0 3 0 0 3
NIN 0 0 0 0 3 3
NPHP3, NPHP3-ACAD11 1 0 0 0 2 3
NPHP3-ACAD11, UBA5 3 0 0 0 0 3
NR0B2, NUDC 1 0 1 0 1 3
NUS1 0 1 1 0 1 3
OBSL1 0 1 1 0 1 3
OFD1 1 0 2 0 0 3
OTOF 1 0 0 1 1 3
OXCT1 1 1 0 0 1 3
PAX3 2 1 0 0 0 3
PAX8 0 0 0 3 0 3
PC 0 3 0 0 0 3
PCDH7 0 0 3 0 0 3
PDE11A 2 0 1 0 0 3
PDYN 0 0 3 0 0 3
PGAP1 0 2 0 1 0 3
PHIP 2 1 0 0 0 3
PHKA1 1 1 0 1 0 3
PKLR 1 1 1 0 0 3
PLCE1 2 1 0 0 0 3
PNPT1 1 1 1 0 0 3
POLA1 0 0 1 0 2 3
POLR3A 2 0 0 0 1 3
POMC 0 0 1 0 2 3
POMT1 1 1 0 0 1 3
POR 0 0 2 0 1 3
POU3F3 2 1 0 0 0 3
PRKAR1A 0 0 1 2 0 3
PRKCG 0 3 0 0 0 3
PRKD1 0 1 2 0 0 3
PRKRA 0 0 1 0 2 3
PROC 0 0 2 0 1 3
PRX 1 0 2 0 0 3
PSEN1 3 0 0 0 0 3
PSPH 0 0 0 2 1 3
QDPR 3 0 0 0 0 3
RAC2 0 0 1 2 0 3
RAD51 0 0 0 3 0 3
RAG1 3 0 0 0 0 3
RASAL1 0 0 0 2 1 3
RGR 0 1 2 0 0 3
ROM1 0 0 0 0 3 3
SASH1 0 0 0 1 2 3
SATB2 2 1 0 0 0 3
SCN3A 1 1 1 0 0 3
SEC23B 0 0 2 1 0 3
SEMA3A 0 0 3 0 0 3
SGSH 1 1 0 0 1 3
SH2D1A 2 0 1 0 0 3
SHANK3 0 2 1 0 0 3
SIK1 1 0 0 1 1 3
SLC12A1 2 0 0 1 0 3
SLC16A1 1 0 1 1 0 3
SLC27A4 2 1 0 0 0 3
SLC4A4 0 0 1 0 2 3
SLC52A2 1 0 0 1 1 3
SLC9A6 0 1 0 0 2 3
SMAD4 0 1 1 0 1 3
SNORD118, TMEM107 0 0 0 0 3 3
SOD1 2 1 0 0 0 3
SON 3 0 0 0 0 3
SOX11 1 1 1 0 0 3
SPECC1L, SPECC1L-ADORA2A 0 0 0 2 1 3
STIL 0 0 0 2 1 3
SUCLA2 1 2 0 0 0 3
SYNE2 0 0 1 0 2 3
TBCEL-TECTA, TECTA 0 0 2 0 1 3
TBX1 0 0 2 0 1 3
TELO2 3 0 0 0 0 3
TENM4 0 0 3 0 0 3
TEX11 0 0 2 0 1 3
TEX15 0 0 3 0 0 3
TG 0 0 2 0 1 3
TGFB1 1 1 1 0 0 3
TK2 3 0 0 0 0 3
TMEM127 1 0 1 1 0 3
TNNI3 1 0 0 0 2 3
TP63 0 0 1 1 1 3
TPM1 0 1 1 0 1 3
TRRAP 0 1 1 0 1 3
TSHR 0 0 1 0 2 3
TTC21B 0 0 1 0 2 3
TTPA 1 1 0 0 1 3
TUBB2A 1 2 0 0 0 3
TWIST1 1 1 1 0 0 3
VSX1 0 0 3 0 0 3
WARS2 1 2 0 0 0 3
WDFY4 0 0 1 0 2 3
WDR36 0 0 3 0 0 3
ZBTB18 2 1 0 0 0 3
ZEB1 0 0 2 0 1 3
ZGRF1 0 0 1 0 2 3
ABCA1 0 0 1 0 1 2
ABCC9 0 0 1 0 1 2
ABCC9, KCNJ8 0 0 1 0 1 2
ABCD4 0 0 0 1 1 2
ABCG5, DYNC2LI1 0 0 1 0 1 2
ABHD14A-ACY1, ACY1 0 0 2 0 0 2
ACAD9 0 0 0 0 2 2
ACADS 0 0 0 1 1 2
ACO2 0 1 0 1 0 2
ACO2, POLR3H 1 1 0 0 0 2
ACTB 2 0 0 0 0 2
ACTL6B 1 0 1 0 0 2
ACVRL1 0 0 0 0 2 2
ACYP1, NPC2 0 0 0 2 0 2
ADA 0 1 0 0 1 2
ADAMTS10 0 0 0 0 2 2
ADAMTSL1 0 0 2 0 0 2
ADGRG6 0 0 0 0 2 2
ADK 0 1 0 0 1 2
ADPRS 0 2 0 0 0 2
AGBL1 0 0 1 1 0 2
AGO1 0 0 1 0 1 2
AGO3 0 0 2 0 0 2
AGRN 0 1 0 1 0 2
AGTR1 1 1 0 0 0 2
AIFM1, RAB33A 0 0 1 0 1 2
ALDOA, LOC112694756 0 0 0 1 1 2
ALG1 0 1 1 0 0 2
ALOX12B 1 1 0 0 0 2
ALPL 2 0 0 0 0 2
AMPD1 0 0 1 0 1 2
ANG, EGILA, RNASE4 0 0 1 0 1 2
ANKRD26 0 0 1 0 1 2
AP4B1 1 0 0 0 1 2
AR, LOC109504725 1 0 0 0 1 2
AREL1, MLH3 0 0 1 0 1 2
ARFGEF2 2 0 0 0 0 2
ARHGAP31 0 0 1 1 0 2
ARID4A 0 0 1 1 0 2
ARNT2 0 1 1 0 0 2
ARPC1B 2 0 0 0 0 2
ASCC1 1 0 0 0 1 2
ASCL1, PAH 0 0 0 1 1 2
ASH1L 0 0 1 0 1 2
ASTN2, TRIM32 1 0 0 0 1 2
ATAD3A 1 0 1 0 0 2
ATIC 0 1 0 0 1 2
AXDND1, NPHS2 1 0 1 0 0 2
B3GALNT2 0 0 0 2 0 2
B3GAT3 1 0 0 0 1 2
B4GALNT1 0 0 2 0 0 2
BARD1, LOC129935544 0 0 0 2 0 2
BBS1 1 0 0 1 0 2
BCKDHA 1 1 0 0 0 2
BCL11A 0 0 1 0 1 2
BCL11B 1 0 1 0 0 2
BRD4 1 1 0 0 0 2
BSND 1 0 1 0 0 2
C10orf105, CDH23 0 0 0 0 2 2
C1QTNF5, MFRP 2 0 0 0 0 2
C2 1 0 0 0 1 2
C6 2 0 0 0 0 2
CACNA1A, LOC126862866 0 1 1 0 0 2
CACNA2D4 0 0 0 0 2 2
CACNB2 0 0 0 0 2 2
CAMK2B 0 0 1 1 0 2
CAMK2G 0 0 2 0 0 2
CAMTA1 2 0 0 0 0 2
CAPN1 2 0 0 0 0 2
CASP8 0 0 0 2 0 2
CASQ1 0 0 1 1 0 2
CATSPER2 0 0 0 0 2 2
CAV1 2 0 0 0 0 2
CCNF, TBC1D24 0 1 0 0 1 2
CD46 0 0 1 0 1 2
CDC73 1 0 1 0 0 2
CDH23, VSIR 0 0 0 0 2 2
CDK13 1 1 0 0 0 2
CDKN1C 0 0 0 2 0 2
CDSN, PSORS1C1 0 1 0 0 1 2
CDT1 0 0 0 0 2 2
CELF2 1 0 1 0 0 2
CFH 0 0 0 0 2 2
CFHR5 0 0 1 0 1 2
CFTR, LOC113664106 2 0 0 0 0 2
CHD3 2 0 0 0 0 2
CHRNB1 0 0 1 0 1 2
CLCNKA, LOC106501712 0 0 1 0 1 2
CLRN1 1 1 0 0 0 2
CNNM2 0 0 0 1 1 2
COG4 0 0 0 0 2 2
COG6 0 1 1 0 0 2
COL12A1 0 0 0 1 1 2
COL17A1 1 1 0 0 0 2
COL5A1, LOC101448202 1 0 1 0 0 2
COQ8B 1 0 1 0 0 2
CPAP 0 0 0 0 2 2
CRELD1 0 0 2 0 0 2
CROCC 0 0 0 2 0 2
CSF1R 1 0 1 0 0 2
CTNNA1 0 0 0 0 2 2
CTNNB1, LOC126806659 1 1 0 0 0 2
CUBN 0 0 2 0 0 2
CUL3 1 1 0 0 0 2
CUL7 1 1 0 0 0 2
CYB5R3 2 0 0 0 0 2
CYFIP2 1 1 0 0 0 2
CYP11A1 1 0 1 0 0 2
CYP11B1, LOC106799833 2 0 0 0 0 2
CYP1B1 0 1 0 0 1 2
CYP27B1 2 0 0 0 0 2
D2HGDH 0 0 0 0 2 2
DAG1 0 0 0 0 2 2
DCAF17 0 0 0 0 2 2
DCPS, GSEC 1 0 0 1 0 2
DHCR7 0 1 1 0 0 2
DHCR7, NADSYN1 0 0 1 0 1 2
DHDDS 1 0 1 0 0 2
DHX37 0 0 1 0 1 2
DIP2A 0 0 2 0 0 2
DIPK1A, RPL5 1 0 0 1 0 2
DISC1, TSNAX-DISC1 0 0 2 0 0 2
DLAT 0 0 2 0 0 2
DLD 1 0 0 0 1 2
DLGAP2 0 0 1 0 1 2
DLL3, LOC130064417, PLEKHG2 1 0 0 0 1 2
DNA2 1 0 1 0 0 2
DNAH5 1 0 1 0 0 2
DNAJB6 1 0 1 0 0 2
DNAJC13 0 0 1 1 0 2
DNAJC21 1 1 0 0 0 2
DNM1 0 0 2 0 0 2
DNMT1, SHFL 0 0 2 0 0 2
DOCK3 0 0 2 0 0 2
DOCK6 0 1 0 0 1 2
DSC2 0 0 0 0 2 2
DVL1 1 0 0 1 0 2
ECEL1 2 0 0 0 0 2
ECHS1, LOC130005023 1 1 0 0 0 2
EDN3 0 0 0 2 0 2
EDNRA 0 0 1 0 1 2
EDNRB 0 0 2 0 0 2
EEF1A2 0 0 2 0 0 2
EEF2 0 0 2 0 0 2
ELP1 0 0 0 0 2 2
EMC1 0 2 0 0 0 2
ENPP1 1 1 0 0 0 2
ENTPD1 1 1 0 0 0 2
EPHA2 0 0 2 0 0 2
EPM2A 0 2 0 0 0 2
ERCC6L2 0 0 1 1 0 2
EVI2B, NF1 0 0 1 1 0 2
EXOSC3, TRMT10B 0 0 0 2 0 2
EYA1 0 0 1 0 1 2
FA2H 2 0 0 0 0 2
FA2H, LOC130059394 0 2 0 0 0 2
FAM111B 0 0 2 0 0 2
FANCG 0 0 2 0 0 2
FARSA 2 0 0 0 0 2
FARSB 2 0 0 0 0 2
FAT1, LOC126807255 0 0 0 0 2 2
FDXR 0 0 2 0 0 2
FGF8 0 0 1 1 0 2
FGFR1 0 1 0 0 1 2
FKBP10 1 0 1 0 0 2
FKRP 1 0 0 0 1 2
FMO3 0 0 0 2 0 2
FMR1 0 0 0 1 1 2
FOLR1 1 0 1 0 0 2
FOXC1 1 0 1 0 0 2
FTL 0 0 1 0 1 2
GABBR1 0 0 2 0 0 2
GABBR2 0 0 2 0 0 2
GABRG2 1 0 1 0 0 2
GAREM2, HADHA 2 0 0 0 0 2
GATA6 0 0 1 0 1 2
GCH1, LOC130055692 1 0 0 0 1 2
GDF2 0 0 2 0 0 2
GDF3 0 0 1 0 1 2
GFPT1 1 0 1 0 0 2
GIGYF1 1 0 0 0 1 2
GLIS3 0 0 0 0 2 2
GLRA1 0 0 1 1 0 2
GNE 1 0 1 0 0 2
GP1BA 1 0 0 1 0 2
GPIHBP1 1 0 1 0 0 2
GRHL2 0 0 1 0 1 2
GRIN2D, LOC130064857 2 0 0 0 0 2
GRM1 0 0 0 0 2 2
GUCA1A, GUCA1ANB-GUCA1A 1 1 0 0 0 2
GYS1 1 0 1 0 0 2
HBA-LCR, NPRL3 0 1 1 0 0 2
HCN4 0 0 1 0 1 2
HECW2 0 1 0 1 0 2
HEXB 0 0 0 1 1 2
HRC, TRPM4 0 0 2 0 0 2
HSCB 0 0 0 2 0 2
HYDIN 0 0 0 0 2 2
HYLS1, PUS3 0 0 0 0 2 2
IARS2 0 0 1 1 0 2
IDH2 0 1 0 0 1 2
IFT122 0 2 0 0 0 2
IFT140 1 0 0 0 1 2
IKBKB 0 0 1 0 1 2
IL17RD 0 0 2 0 0 2
IL7R 0 0 0 0 2 2
INSL3 0 0 1 0 1 2
INSL6, JAK2 0 0 1 1 0 2
INVS 0 0 0 0 2 2
ITGA8 1 0 1 0 0 2
ITGB4 0 0 2 0 0 2
ITPA 2 0 0 0 0 2
KARS1 0 1 0 0 1 2
KARS1, LOC126862402 1 1 0 0 0 2
KCNC1 1 1 0 0 0 2
KCNC3 0 0 1 1 0 2
KCND3 0 0 2 0 0 2
KCNE2, LOC105372791 0 0 0 1 1 2
KCNE3, LIPT2 0 0 1 0 1 2
KCNJ11 1 0 0 1 0 2
KCNMA1 1 0 0 0 1 2
KCNQ5 2 0 0 0 0 2
KCNV2 0 0 1 0 1 2
KCTD7 2 0 0 0 0 2
KDM5B 0 0 2 0 0 2
KIF11 1 0 0 0 1 2
KLF1, LOC117125591 1 0 0 0 1 2
KLLN, LOC130004273, PTEN 0 0 0 1 1 2
KMT2D, LOC126861520 0 0 1 1 0 2
KMT5B 1 0 1 0 0 2
KRT2 1 0 1 0 0 2
KRT5, LOC126861525 2 0 0 0 0 2
KRTAP10-1, TSPEAR 0 0 0 0 2 2
LAMA5 0 0 1 0 1 2
LIPA 1 1 0 0 0 2
LMNB2 0 0 1 0 1 2
LOC101928008, SBF2 0 0 1 1 0 2
LOC105369149, SBF2 2 0 0 0 0 2
LOC106780803, TNXB 0 0 0 1 1 2
LOC113687175, TFR2 2 0 0 0 0 2
LOC126859646, VARS2 0 1 0 0 1 2
LOC126859690, PKHD1 1 0 0 1 0 2
LOC126861242, NDUFV1 1 1 0 0 0 2
LOC126861897, MHRT, MYH7 0 0 1 0 1 2
LOC126861898, MYH7 0 1 0 0 1 2
LOC126862483, TP53, WRAP53 0 0 1 1 0 2
LOC126862757, TCF4 2 0 0 0 0 2
LOC129390903, RAD51C 0 0 2 0 0 2
LOC129933707, MSH6 0 0 1 1 0 2
LOC129992137, MSX1 0 0 0 0 2 2
LOC130004273, MLDHR, PTEN 0 0 1 1 0 2
LOC130004614, SUFU 0 0 1 1 0 2
LOC130056226, SPATA7 2 0 0 0 0 2
LRRC8A 0 0 0 2 0 2
MAP2K2 0 0 1 1 0 2
MAP3K1 0 0 0 1 1 2
MARS1 0 0 2 0 0 2
MAST1 0 0 2 0 0 2
MAX 0 0 1 1 0 2
MC4R 0 0 1 0 1 2
MCCC1 0 0 0 0 2 2
MED13L 1 0 0 0 1 2
MED23 1 1 0 0 0 2
MITF 1 1 0 0 0 2
MLH3 0 0 1 1 0 2
MLYCD 0 0 1 0 1 2
MMAB 0 1 0 0 1 2
MMP1 0 0 1 0 1 2
MMP14 0 0 2 0 0 2
MRM1 0 0 0 0 2 2
MRPL49 2 0 0 0 0 2
MSR1 0 0 2 0 0 2
MSX2 0 0 0 0 2 2
MT-CO1 0 0 2 0 0 2
MT-CO2 0 0 1 0 1 2
MT-CO3 1 0 1 0 0 2
MT-ND4 1 0 0 0 1 2
MT-TD 1 0 1 0 0 2
MT-TL2 1 0 1 0 0 2
MT-TN 2 0 0 0 0 2
MT-TP 1 0 1 0 0 2
MTMR2 1 0 0 0 1 2
MTSS1, NDUFB9 0 0 0 0 2 2
MYH11 1 0 0 0 1 2
MYL2 0 1 1 0 0 2
MYO6 0 0 2 0 0 2
NAA15 0 0 2 0 0 2
NAGS 1 1 0 0 0 2
NARS2 0 0 1 0 1 2
NDP 1 0 1 0 0 2
NDUFA9 0 0 2 0 0 2
NEFH 0 0 1 0 1 2
NEFL 2 0 0 0 0 2
NEUROD1 0 0 0 0 2 2
NEUROD2 0 0 2 0 0 2
NFKB1 2 0 0 0 0 2
NFKB2 0 0 2 0 0 2
NLGN4X 0 0 1 1 0 2
NLRP12 0 0 1 0 1 2
NLRP3 0 0 0 0 2 2
NOBOX 0 0 1 0 1 2
NPHS2 1 0 0 0 1 2
NR2F1 1 1 0 0 0 2
NYNRIN 0 0 2 0 0 2
OPHN1 2 0 0 0 0 2
PACS2 1 0 1 0 0 2
PAK1 0 1 1 0 0 2
PAPSS2 2 0 0 0 0 2
PARN 1 1 0 0 0 2
PAX4 0 0 2 0 0 2
PAX6 0 0 2 0 0 2
PBRM1 0 0 1 1 0 2
PCARE 0 0 0 1 1 2
PCGF2 0 0 0 0 2 2
PCK1 1 0 0 0 1 2
PDGFB 0 0 2 0 0 2
PDGFRA 0 1 0 1 0 2
PDGFRB 1 0 0 1 0 2
PEPD 2 0 0 0 0 2
PEX10 2 0 0 0 0 2
PEX12 0 1 0 0 1 2
PEX2 0 0 0 1 1 2
PEX5 0 0 0 0 2 2
PHF12 0 0 2 0 0 2
PIGP 0 1 1 0 0 2
PIK3CD 0 0 2 0 0 2
PIK3R1 1 1 0 0 0 2
PIK3R2 0 0 1 0 1 2
PITPNM3 0 0 0 2 0 2
PITRM1 0 0 0 0 2 2
PITX1 0 0 2 0 0 2
PKD2 0 1 1 0 0 2
PLEC 0 0 1 0 1 2
PLOD1 1 0 1 0 0 2
PLPBP 0 0 2 0 0 2
PLXND1 0 0 1 0 1 2
PMP22 0 1 0 0 1 2
POC5 0 0 0 0 2 2
POLH 1 0 0 1 0 2
POLR2A 1 0 0 0 1 2
POLR3B 1 1 0 0 0 2
POMGNT1 0 1 1 0 0 2
POMT2 0 0 2 0 0 2
PPARG 2 0 0 0 0 2
PPP2R1A 0 0 0 2 0 2
PPP3CA 2 0 0 0 0 2
PRICKLE2 0 0 1 0 1 2
PROK2 1 0 0 0 1 2
PRPF8 0 2 0 0 0 2
PRPS1 0 2 0 0 0 2
PTCHD1 0 0 2 0 0 2
PTH1R 2 0 0 0 0 2
PTPN23 0 0 2 0 0 2
PTPRQ 0 0 1 0 1 2
RAC1 1 1 0 0 0 2
RAD21 1 0 0 1 0 2
RAD51B 0 0 0 2 0 2
RAPSN 2 0 0 0 0 2
RARS1 0 0 0 0 2 2
RBM28 1 1 0 0 0 2
REPS1 1 0 1 0 0 2
REXO1 0 0 1 0 1 2
RIGI 0 1 1 0 0 2
RMND1 1 1 0 0 0 2
RNASEL 0 0 1 1 0 2
RNF170 0 0 2 0 0 2
RNF43 0 0 1 1 0 2
ROGDI 0 0 0 2 0 2
RORA 0 1 1 0 0 2
RP9 0 0 0 0 2 2
RPL10 0 0 1 0 1 2
RPS17 0 0 0 0 2 2
RUNX2 2 0 0 0 0 2
SCN1B 0 0 0 0 2 2
SCNN1A 2 0 0 0 0 2
SCNN1B 0 0 0 0 2 2
SERPINI1 1 0 1 0 0 2
SETD2 0 0 2 0 0 2
SF3B4 0 0 1 0 1 2
SGCD 0 0 0 0 2 2
SH2B1 1 0 0 0 1 2
SHQ1 1 0 1 0 0 2
SI 1 0 1 0 0 2
SIL1 0 1 0 1 0 2
SIX3 1 0 1 0 0 2
SKIC3 2 0 0 0 0 2
SLC19A3 1 0 0 0 1 2
SLC1A3 0 0 1 1 0 2
SLC1A4 0 1 1 0 0 2
SLC25A10 0 0 1 0 1 2
SLC25A13 1 0 1 0 0 2
SLC26A3 2 0 0 0 0 2
SLC2A2 1 0 0 0 1 2
SLC39A8 2 0 0 0 0 2
SLC40A1 1 0 1 0 0 2
SMAD3 0 1 0 0 1 2
SMARCB1 2 0 0 0 0 2
SMPD1 0 2 0 0 0 2
SNAP25 0 2 0 0 0 2
SNTA1 0 0 1 0 1 2
SNX14 1 0 1 0 0 2
SORL1 0 0 0 0 2 2
SOX5 1 1 0 0 0 2
SOX9 0 0 1 0 1 2
SPINK5 2 0 0 0 0 2
SPOP 1 1 0 0 0 2
SPRED1 2 0 0 0 0 2
SPTB 0 0 2 0 0 2
SPTBN2 1 0 1 0 0 2
SPTLC1 0 1 0 1 0 2
SPTLC2 0 1 1 0 0 2
SREBF1 0 0 0 0 2 2
SRPX2 0 0 1 1 0 2
SRRM2 1 0 0 0 1 2
STAT3 0 2 0 0 0 2
STX1B 0 1 1 0 0 2
SUFU 0 0 2 0 0 2
SUZ12 1 1 0 0 0 2
SYN1 1 0 0 0 1 2
SYT1 1 0 1 0 0 2
TAF8 2 0 0 0 0 2
TAP2 0 0 0 0 2 2
TBX2 1 0 0 0 1 2
TBX6 0 0 0 0 2 2
TET2 1 0 1 0 0 2
TF 0 0 0 1 1 2
TGFB2 0 0 0 2 0 2
TGFBR1 0 0 1 1 0 2
TIMM8A 1 1 0 0 0 2
TJP2 2 0 0 0 0 2
TMEM216 0 0 0 0 2 2
TMEM231 0 0 1 0 1 2
TNR 2 0 0 0 0 2
TONSL 2 0 0 0 0 2
TOP3A 0 0 1 1 0 2
TOPORS 1 1 0 0 0 2
TOR1A 2 0 0 0 0 2
TPM2 1 0 0 0 1 2
TPM3 0 2 0 0 0 2
TRAF7 0 1 1 0 0 2
TRAPPC9 1 0 0 0 1 2
TRPS1 0 0 0 0 2 2
TSPAN7 1 0 1 0 0 2
TUBA1A 1 1 0 0 0 2
TUBB 0 1 1 0 0 2
TUBB1 1 0 1 0 0 2
TUBB2B 1 0 0 1 0 2
TUBB4A 1 1 0 0 0 2
TUBB8 0 0 2 0 0 2
UPB1 0 0 1 1 0 2
UPF3B 0 0 1 1 0 2
VANGL1 0 0 0 0 2 2
VAPB 1 0 0 1 0 2
VCL 0 0 0 0 2 2
VEZF1 0 0 1 0 1 2
WDR35 0 0 0 0 2 2
WDR73 0 1 0 0 1 2
WNT1 2 0 0 0 0 2
WRAP53 0 0 0 1 1 2
XDH 0 0 0 0 2 2
YAP1 1 0 0 1 0 2
YWHAG 1 0 1 0 0 2
ZFPM2 0 0 0 1 1 2
ZNF148 1 1 0 0 0 2
ZNF335 2 0 0 0 0 2
ZNF469 0 0 0 0 2 2
ZNF687 0 0 2 0 0 2
ZSWIM6 0 0 1 0 1 2
AAGAB 0 0 0 0 1 1
ABCA12, SNHG31 0 0 0 0 1 1
ABCA7 0 0 1 0 0 1
ABCC2, LOC108281165 0 0 0 0 1 1
ABCG5, ABCG8 0 0 0 0 1 1
ACADSB 0 0 0 1 0 1
ACAT1 1 0 0 0 0 1
ACD, LOC130059224 0 1 0 0 0 1
ACP5 1 0 0 0 0 1
ACTA2 0 0 1 0 0 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ACTG2 0 0 0 0 1 1
ACTN2 0 0 0 1 0 1
ACVR1 1 0 0 0 0 1
ACVR2B 0 0 0 1 0 1
ADA, LOC107303343 0 0 0 0 1 1
ADA2 1 0 0 0 0 1
ADAM10 0 0 1 0 0 1
ADAMTS18 0 0 0 0 1 1
ADAR, LOC126805874 0 1 0 0 0 1
ADGRL4, IFI44, IFI44L, LOC126805766, LOC126805767, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, MGC27382, PTGFR 0 0 1 0 0 1
ADNP, DPM1 1 0 0 0 0 1
ADSS1 1 0 0 0 0 1
AFF2, FRAXE 0 0 1 0 0 1
AGA 0 0 0 0 1 1
AGAP2 0 0 1 0 0 1
AGBL1, LOC102724452 0 0 1 0 0 1
AICDA 0 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, ESS2, FAM230F, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC122455341, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC129391267, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIMP1 1 0 0 0 0 1
AIMP2 0 0 0 0 1 1
AIMP2, EIF2AK1 1 0 0 0 0 1
AIP 0 0 0 1 0 1
AIP, LOC130006206 0 0 1 0 0 1
AKAP19, MSTN 0 0 0 0 1 1
AKR1C2 0 0 0 0 1 1
AKR1C2, LOC101928051 0 0 0 0 1 1
AKR1D1 0 1 0 0 0 1
AKT2 0 0 1 0 0 1
AKT3 0 0 1 0 0 1
ALAD 0 0 0 0 1 1
ALAS2, LOC108663984, PAGE2B 0 0 1 0 0 1
ALB 0 0 1 0 0 1
ALDH18A1 1 0 0 0 0 1
ALDH1A2 0 0 0 0 1 1
ALDH5A1 0 0 0 0 1 1
ALG1, LOC130058383 0 1 0 0 0 1
ALG1, LOC130058384 0 0 0 0 1 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 1
ALG6 0 0 0 1 0 1
ALG9 0 0 0 0 1 1
ALX1, LOC124629423 0 0 0 1 0 1
AMD1, CDK19 1 0 0 0 0 1
AMH 0 0 0 0 1 1
ANAPC15, LRTOMT, TOMT 0 0 0 0 1 1
ANKH 1 0 0 0 0 1
ANKLE2 0 0 1 0 0 1
ANKRD17 0 0 1 0 0 1
ANLN 1 0 0 0 0 1
ANO7, HDLBP 0 0 1 0 0 1
ANTXR2 0 0 0 0 1 1
ANXA11 0 1 0 0 0 1
AP3B2, CPEB1 0 1 0 0 0 1
AP4E1 0 0 0 0 1 1
AP4M1 1 0 0 0 0 1
AP4S1 0 1 0 0 0 1
AP5Z1 0 0 0 0 1 1
APBA2 0 0 1 0 0 1
APOB, LOC106560211 1 0 0 0 0 1
APOC2, APOC4-APOC2 1 0 0 0 0 1
APP 1 0 0 0 0 1
ARCN1 1 0 0 0 0 1
ARF1, LOC126806039 0 0 1 0 0 1
ARFGEF1-DT, CPA6 0 0 1 0 0 1
ARG1 0 1 0 0 0 1
ARHGAP24 0 0 1 0 0 1
ARHGAP32 1 0 0 0 0 1
ARHGEF6 0 0 1 0 0 1
ARHGEF6, LOC130068760 0 0 0 1 0 1
ARHGEF9 1 0 0 0 0 1
ARID1B, LOC115308161 0 0 0 0 1 1
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FAM193B-DT, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LINC03224, LMAN2, LOC100128340, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC129389417, LOC129389418, LOC129389419, LOC129389420, LOC129995329, LOC129995330, LOC129995331, LOC129995332, LOC129995333, LOC129995334, LOC129995335, LOC129995336, LOC129995337, LOC129995338, LOC129995339, LOC129995340, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, LOC129995379, LOC129995380, LOC129995381, LOC129995382, LOC129995383, LOC129995384, LOC129995385, LOC129995386, LOC129995387, LOC129995388, LOC129995389, LOC129995390, LOC129995391, LOC129995392, LOC129995393, LOC129995394, LOC129995395, LOC129995396, LOC129995397, LOC129995398, LOC129995399, LOC129995400, LOC129995401, LOC129995402, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 1
ARL6 1 0 0 0 0 1
ARSB, LOC129994126 0 0 0 0 1 1
ARSL 0 0 0 0 1 1
ARX, LOC109610631 0 0 0 0 1 1
ASPHD1, KCTD13 0 0 1 0 0 1
ASXL2 0 0 1 0 0 1
ATG7 0 0 0 0 1 1
ATN1 0 1 0 0 0 1
ATP1A1 0 1 0 0 0 1
ATP1A2, LOC126805890 0 0 1 0 0 1
ATP2C1 0 0 1 0 0 1
ATP4A 0 0 1 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 1
ATP6AP2 0 0 0 0 1 1
ATP6V1B2 1 0 0 0 0 1
ATP7A, PGAM4 0 0 0 0 1 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
ATXN1 0 0 0 0 1 1
ATXN2, LOC130008792 0 0 1 0 0 1
B2M 1 0 0 0 0 1
B4GALT1 0 0 1 0 0 1
B4GALT7 0 0 0 0 1 1
BBS1, ZDHHC24 1 0 0 0 0 1
BBS12 0 0 1 0 0 1
BBS4 0 0 0 0 1 1
BBS5 1 0 0 0 0 1
BCAP31 1 0 0 0 0 1
BCO1 0 0 1 0 0 1
BCOR 0 0 1 0 0 1
BDNF 0 0 1 0 0 1
BEST1, FTH1 1 0 0 0 0 1
BIVM, BIVM-ERCC5 0 0 0 0 1 1
BLK, LOC126860303 0 0 0 0 1 1
BLOC1S1-RDH5, CD63, RDH5 1 0 0 0 0 1
BLOC1S1-RDH5, RDH5 1 0 0 0 0 1
BMP2 0 0 0 0 1 1
BMPR2 0 0 1 0 0 1
BMPR2, LOC129935434 0 0 0 0 1 1
BPTF, LOC130061496 0 0 0 0 1 1
BRAT1 1 0 0 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216 1 0 0 0 0 1
BTK, LOC130068496 0 0 0 0 1 1
BUB1B, BUB1B-PAK6 0 0 1 0 0 1
C12orf43, HNF1A 0 0 0 1 0 1
C12orf57 1 0 0 0 0 1
C14orf39, SIX6 0 0 0 0 1 1
C19orf12 0 0 1 0 0 1
C1QC 1 0 0 0 0 1
C1S 0 0 1 0 0 1
C2CD3 0 0 1 0 0 1
CA2 0 0 0 0 1 1
CABLES1, LOC130062265 0 0 0 1 0 1
CABP4, GPR152 0 0 0 0 1 1
CACNA1B, LOC100133077 0 0 0 0 1 1
CACNB4 0 0 1 0 0 1
CAMTA1, LOC126805603 0 0 0 1 0 1
CANT1 1 0 0 0 0 1
CAPN15 0 0 1 0 0 1
CAPN3, LOC126862115 0 0 0 0 1 1
CARD11 0 1 0 0 0 1
CARD14 0 0 0 0 1 1
CASQ2 0 1 0 0 0 1
CAST, LOC101929710, PCSK1 0 0 1 0 0 1
CASZ1 0 0 0 0 1 1
CATIP, PNKD 0 0 1 0 0 1
CAV3 1 0 0 0 0 1
CBL, LOC130006895 0 0 1 0 0 1
CCBE1 0 0 0 0 1 1
CCDC22 0 0 1 0 0 1
CCDST, FLG2 0 0 0 0 1 1
CCN6 1 0 0 0 0 1
CCNH, RASA1 0 0 0 0 1 1
CD320 0 0 0 0 1 1
CD59 0 1 0 0 0 1
CDC6 0 0 0 0 1 1
CDCA7L, DNAH11 0 0 1 0 0 1
CDH1, LOC130059290 0 0 0 1 0 1
CDH2 0 1 0 0 0 1
CDH23, LOC130004038, VSIR 0 0 0 0 1 1
CDH3 0 0 0 0 1 1
CDK12 0 0 0 1 0 1
CDK19 0 0 1 0 0 1
CDK5RAP2 1 0 0 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LINC02096, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, HS3ST3B1, LINC02096, LOC101928475, LOC105943586, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
CEBPA, LOC130064183 0 0 1 0 0 1
CEL 0 0 1 0 0 1
CELA2A 1 0 0 0 0 1
CEP112 0 0 1 0 0 1
CEP120 1 0 0 0 0 1
CEP128, TSHR 0 0 1 0 0 1
CEP152 0 0 0 1 0 1
CEP164 0 0 1 0 0 1
CEP290, LOC129390514 1 0 0 0 0 1
CEP57 0 0 0 0 1 1
CEP85L, PLN 0 0 1 0 0 1
CERKL, LOC129935214 1 0 0 0 0 1
CERT1 0 0 0 1 0 1
CERT1, POLK 0 0 1 0 0 1
CFAP418, LOC130000784 0 0 1 0 0 1
CFAP96, UFSP2 0 0 1 0 0 1
CFD, ELANE 1 0 0 0 0 1
CFP 0 0 1 0 0 1
CFTR, LOC111674463 1 0 0 0 0 1
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC126860160 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 1
CHAT 0 0 0 0 1 1
CHAT, SLC18A3 0 0 0 0 1 1
CHD1 0 0 0 0 1 1
CHD1L 0 0 0 0 1 1
CHD5 1 0 0 0 0 1
CHD7, LOC126860403 0 0 0 0 1 1
CHD8, LOC126861888 0 0 1 0 0 1
CHEK2, LOC130067165 0 0 1 0 0 1
CHM, LOC129391306 1 0 0 0 0 1
CHMP2B 0 0 1 0 0 1
CHRNA1 0 0 1 0 0 1
CHRNA2 0 0 0 0 1 1
CHRNG 0 0 0 0 1 1
CHST3 1 0 0 0 0 1
CHST8 0 0 1 0 0 1
CIITA 0 1 0 0 0 1
CILK1 0 0 1 0 0 1
CISD3, PCGF2 0 0 1 0 0 1
CITED2 0 0 1 0 0 1
CITED2, LOC129997307 0 0 0 0 1 1
CIZ1, DNM1 0 0 1 0 0 1
CLCN3 1 0 0 0 0 1
CLCN5, LOC126863258 0 0 1 0 0 1
CLCNKB 1 0 0 0 0 1
CLDN16 0 1 0 0 0 1
CLEC7A 0 0 0 0 1 1
CLIC2 0 0 1 0 0 1
CLN5, LOC130009913 0 0 0 0 1 1
CLP1 0 0 1 0 0 1
CLPB 1 0 0 0 0 1
CNNM2, NT5C2 1 0 0 0 0 1
CNNM4 1 0 0 0 0 1
CNOT2 0 0 0 1 0 1
CNTN1 0 0 0 0 1 1
CNTN2 0 0 0 0 1 1
CNTNAP1, LOC125177481 0 0 0 0 1 1
COG1 1 0 0 0 0 1
COG5 0 0 0 0 1 1
COL6A3, LOC122889011 0 1 0 0 0 1
COL7A1, MIR711 0 0 1 0 0 1
COL9A2 0 0 1 0 0 1
COL9A3, LOC126863084 0 0 1 0 0 1
COPA 0 0 1 0 0 1
COPB1 0 0 1 0 0 1
COQ4 1 0 0 0 0 1
COQ7 1 0 0 0 0 1
COQ7, COQ7-DT, LOC130058587 1 0 0 0 0 1
COX10 0 0 0 0 1 1
CPN1 0 0 0 0 1 1
CPOX 1 0 0 0 0 1
CPT1A 0 1 0 0 0 1
CPT1C 0 0 0 1 0 1
CREBBP, LOC130058353 1 0 0 0 0 1
CRIM1 0 0 1 0 0 1
CRYAB 0 0 1 0 0 1
CRYBB2 0 0 1 0 0 1
CRYGB, LOC100507443 0 0 0 0 1 1
CRYGC, LOC100507443 0 0 1 0 0 1
CRYGD, LOC100507443 0 0 1 0 0 1
CRYGS 0 0 1 0 0 1
CRYL1, GJB6, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC132090175, MIR4499 1 0 0 0 0 1
CSF3R 0 0 0 1 0 1
CSMD1 0 0 1 0 0 1
CSNK1G1 0 0 1 0 0 1
CTC1, PFAS 1 0 0 0 0 1
CTDP1 0 0 0 0 1 1
CTNNA3, LOC101928961, LRRTM3 0 0 1 0 0 1
CTR9 0 0 0 0 1 1
CTSB 0 0 1 0 0 1
CUX1 0 0 1 0 0 1
CWF19L1 0 1 0 0 0 1
CXCR4 0 1 0 0 0 1
CYBA 0 0 0 0 1 1
CYLD 0 0 0 0 1 1
CYLD, NOD2 0 0 1 0 0 1
CYP11B2, LOC106799834 0 0 0 0 1 1
CYP17A1 1 0 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 0 0 1 1
CYP1B1, LOC128772254 0 0 0 0 1 1
CYP21A2 0 0 0 0 1 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 1
CYP2U1 1 0 0 0 0 1
CYP3A4 1 0 0 0 0 1
CYP4V2, LOC129993526 0 0 0 0 1 1
DCAF8 0 0 1 0 0 1
DCDC2 0 1 0 0 0 1
DCHS1 0 0 1 0 0 1
DCX 1 0 0 0 0 1
DDX59 1 0 0 0 0 1
DDX6 0 0 1 0 0 1
DGUOK, LOC129934096 0 0 0 0 1 1
DHFR, MSH3 0 0 0 1 0 1
DHH 1 0 0 0 0 1
DHX34 1 0 0 0 0 1
DHX38 0 0 1 0 0 1
DLG3 0 0 1 0 0 1
DLG4 0 0 1 0 0 1
DLG4, LOC126862479 0 0 1 0 0 1
DLL4 0 0 1 0 0 1
DLST 0 0 1 0 0 1
DMD, MIR548F5 1 0 0 0 0 1
DMP1 0 0 0 0 1 1
DMP1, DSPP 0 0 0 0 1 1
DNAAF1 0 0 0 0 1 1
DNAAF2 0 1 0 0 0 1
DNAAF5, PRKAR1B 0 0 1 0 0 1
DNAH11 1 0 0 0 0 1
DNAH11, LOC126859962 1 0 0 0 0 1
DNAJB2 1 0 0 0 0 1
DNAJC12 0 0 1 0 0 1
DNMT1, LOC126862853 0 1 0 0 0 1
DNMT3B 1 0 0 0 0 1
DPM1, LOC130066166 1 0 0 0 0 1
DSTYK 0 0 0 0 1 1
DUOXA2 0 0 0 0 1 1
DUSP6, POC1B-DUSP6 0 0 0 0 1 1
DUX4 0 0 1 0 0 1
DYNC2I1 0 0 0 0 1 1
DYNC2I2 0 0 0 0 1 1
DYSF, LOC122787137 0 0 0 1 0 1
EDARADD 0 0 1 0 0 1
EED 0 1 0 0 0 1
EFEMP2 1 0 0 0 0 1
EFNB1 0 1 0 0 0 1
EFTUD2 1 0 0 0 0 1
EHMT1, LOC130003148 0 0 0 1 0 1
EIF2AK2 0 0 1 0 0 1
EMD 1 0 0 0 0 1
EPAS1 0 0 0 1 0 1
EPS8L3 0 0 0 0 1 1
ERCC4, LOC130058543 0 0 1 0 0 1
ETFB 0 0 0 0 1 1
ETV6 0 0 1 0 0 1
EVC 0 0 0 0 1 1
EVC, EVC2, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147 1 0 0 0 0 1
EVI2A, NF1 0 0 0 1 0 1
EXOSC3 1 0 0 0 0 1
EXOSC5 0 1 0 0 0 1
EXOSC8 0 0 0 0 1 1
EXOSC9 1 0 0 0 0 1
F12 0 0 0 0 1 1
F2 1 0 0 0 0 1
F7 0 0 1 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 1
FAM111A 1 0 0 0 0 1
FAM161A 0 0 1 0 0 1
FAM20C 0 0 0 0 1 1
FAM98C 0 0 0 1 0 1
FAN1 0 0 0 1 0 1
FANCB 0 0 0 1 0 1
FANCE 0 0 1 0 0 1
FANCE, LOC129996245 0 1 0 0 0 1
FANCE, LOC129996245, LOC129996246, LOC129996247, LOC129996248, LOC129996249, MIR7111, RPL10A, TEAD3 0 0 1 0 0 1
FANCF 0 0 0 1 0 1
FANCL, VRK2 0 0 0 1 0 1
FANCM, LOC130055524 0 0 0 1 0 1
FARS2 0 0 0 1 0 1
FBLN5 0 0 1 0 0 1
FBN1, LOC113939944 0 1 0 0 0 1
FBN1, LOC126862124 0 0 1 0 0 1
FBXO11 0 0 1 0 0 1
FBXW11 0 0 1 0 0 1
FCN3 0 0 1 0 0 1
FECH, LOC130062555 0 0 0 0 1 1
FGD4 0 0 0 0 1 1
FGF14 1 0 0 0 0 1
FGF20 0 1 0 0 0 1
FGF3 0 0 1 0 0 1
FKTN 0 0 0 0 1 1
FLAD1 1 0 0 0 0 1
FLVCR2 0 0 1 0 0 1
FMN1 0 0 1 0 0 1
FN1, FN1-DT 0 0 0 0 1 1
FNDC8 0 0 1 0 0 1
FOXA2 0 0 1 0 0 1
FOXC1, LOC129995600 0 0 1 0 0 1
FOXE1 0 0 0 1 0 1
FOXE3, LINC01389 0 0 0 0 1 1
FOXP2 0 0 0 1 0 1
FOXP3 1 0 0 0 0 1
FOXRED1 0 0 1 0 0 1
FRAS1 0 0 0 0 1 1
FRRS1L 0 0 0 0 1 1
FSCN2 0 0 1 0 0 1
FTCD 1 0 0 0 0 1
FZD2 1 0 0 0 0 1
FZD4 0 0 0 0 1 1
FZD4, PRSS23 0 0 1 0 0 1
FZD6 0 0 0 0 1 1
FZR1 0 0 1 0 0 1
G6PC3 1 0 0 0 0 1
G6PD, IKBKG 1 0 0 0 0 1
GABRA2 1 0 0 0 0 1
GABRA5 0 1 0 0 0 1
GABRB1 0 0 1 0 0 1
GAD1 0 0 1 0 0 1
GALK1, ITGB4 0 0 0 0 1 1
GALM 1 0 0 0 0 1
GALNS, LOC126862447 0 0 0 0 1 1
GALNS, LOC130059762, TRAPPC2L 0 1 0 0 0 1
GALNTL5 0 0 1 0 0 1
GAMT, LOC130062945 1 0 0 0 0 1
GANAB 0 0 1 0 0 1
GATA1 1 0 0 0 0 1
GATM 0 0 0 0 1 1
GCDH, LOC117125594 1 0 0 0 0 1
GCKR 0 0 1 0 0 1
GCM2 0 0 1 0 0 1
GDF5 0 0 0 0 1 1
GDI1 0 0 0 1 0 1
GDNF 0 0 0 0 1 1
GFAP, LOC130060994 1 0 0 0 0 1
GFI1, LOC129930930 0 0 0 1 0 1
GHR 0 0 1 0 0 1
GHSR 0 0 1 0 0 1
GJA1 0 0 1 0 0 1
GJA8 0 0 1 0 0 1
GJB6 0 0 0 0 1 1
GK 1 0 0 0 0 1
GLMN 0 1 0 0 0 1
GLRB 1 0 0 0 0 1
GLUD1 0 1 0 0 0 1
GM2A 1 0 0 0 0 1
GNA11 0 0 1 0 0 1
GNAI1 0 1 0 0 0 1
GNAL 0 0 1 0 0 1
GNAS, LOC130066265 0 0 0 0 1 1
GNB1 1 0 0 0 0 1
GNPAT 0 0 0 0 1 1
GNPTG 1 0 0 0 0 1
GNRHR 0 0 1 0 0 1
GOSR2, LOC126862578, LRRC37A2 0 0 0 0 1 1
GPC3 0 0 0 0 1 1
GPC6 0 0 0 0 1 1
GPR101 0 0 1 0 0 1
GPR143 0 0 0 1 0 1
GPR161 0 0 0 0 1 1
GREM2 1 0 0 0 0 1
GRHPR 0 0 0 0 1 1
GRIA1 0 0 1 0 0 1
GRIA4 0 0 1 0 0 1
GRIK1 0 0 1 0 0 1
GRIN2D 0 0 1 0 0 1
GRIP1 0 0 0 0 1 1
GSDME 0 0 1 0 0 1
GUCA1B 0 0 1 0 0 1
GUSB, LOC126860055 0 0 1 0 0 1
GYS2 0 0 0 0 1 1
H2AC6, LOC126859626 0 0 0 0 1 1
H6PD 0 0 0 0 1 1
HACE1 1 0 0 0 0 1
HADH, LOC129992931 0 0 1 0 0 1
HADHA 0 0 1 0 0 1
HAMP 0 0 0 0 1 1
HARS1 0 0 1 0 0 1
HAVCR2 1 0 0 0 0 1
HBG2, LOC106099065 0 0 0 0 1 1
HENMT1 0 0 1 0 0 1
HERC1 0 0 1 0 0 1
HGD 1 0 0 0 0 1
HGF 0 0 0 0 1 1
HIF3A 0 0 1 0 0 1
HIVEP2 1 0 0 0 0 1
HIVEP3 0 0 0 0 1 1
HKDC1 0 0 0 0 1 1
HNRNPDL 0 0 0 1 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPR 0 0 1 0 0 1
HOXA10, HOXA10-HOXA9 0 0 1 0 0 1
HOXA11, LOC107126281 0 0 0 0 1 1
HOXA13, LOC107126288 0 0 0 0 1 1
HOXB13 1 0 0 0 0 1
HPD 0 0 1 0 0 1
HPD, TIALD 0 0 0 0 1 1
HPSE2 0 0 0 0 1 1
HR 1 0 0 0 0 1
HSD11B1 0 0 0 0 1 1
HSD17B10 0 0 1 0 0 1
HSPB1 0 0 1 0 0 1
HSPB3 0 0 1 0 0 1
HSPD1 0 0 1 0 0 1
HTR1A 0 0 1 0 0 1
HYI, SZT2 0 0 0 0 1 1
ICE2, LOC130057196, LOC130057197, RORA 1 0 0 0 0 1
IDS 0 0 0 1 0 1
IFITM5 0 0 0 0 1 1
IFITM5, PGGHG 1 0 0 0 0 1
IFNAR2, IFNAR2-IL10RB 0 0 0 0 1 1
IFNAR2-IL10RB, IL10RB 1 0 0 0 0 1
IFT80, TRIM59-IFT80 0 1 0 0 0 1
IGF1, LINC02456 0 0 0 0 1 1
IGFALS 0 0 0 0 1 1
IGHMBP2, LOC126861245 0 1 0 0 0 1
IHH 0 0 1 0 0 1
IKBKG 0 0 1 0 0 1
IL10RA 0 1 0 0 0 1
IL12RB1 1 0 0 0 0 1
IL17RC 0 0 0 0 1 1
IL1RAPL1 0 0 1 0 0 1
IL2RA 0 1 0 0 0 1
IL36RN 1 0 0 0 0 1
IMPG2 0 0 1 0 0 1
INF2 0 0 1 0 0 1
INPPL1, LOC130006328 1 0 0 0 0 1
INS, INS-IGF2 1 0 0 0 0 1
INTS14, LOC130057324 0 0 1 0 0 1
INTU, LOC126807151 0 0 1 0 0 1
IRAK1BP1, PHIP 0 1 0 0 0 1
IRF6 1 0 0 0 0 1
ITGA2 0 0 0 0 1 1
ITGA2B 0 0 1 0 0 1
ITGA7 0 0 0 0 1 1
JARID2 0 1 0 0 0 1
JPH1 0 0 0 0 1 1
JPH2 1 0 0 0 0 1
JUP 0 0 1 0 0 1
KCNA5 0 0 1 0 0 1
KCND2 0 0 1 0 0 1
KCNK9, LOC124188239 0 0 1 0 0 1
KCNQ4, LOC129930282 0 0 1 0 0 1
KCNS3 0 0 1 0 0 1
KDM3B 0 1 0 0 0 1
KDM5C, LOC130068308 1 0 0 0 0 1
KDM6A 0 0 1 0 0 1
KIAA0753 1 0 0 0 0 1
KIDINS220 1 0 0 0 0 1
KIF12 0 1 0 0 0 1
KIF21B 0 0 1 0 0 1
KIF3B 0 0 0 0 1 1
KIF4A 0 0 1 0 0 1
KIF5A 0 0 1 0 0 1
KIF5C 1 0 0 0 0 1
KIF7 0 0 0 0 1 1
KIFBP 0 0 0 1 0 1
KIR3DL1, NLRP7 0 0 0 0 1 1
KISS1 0 0 0 1 0 1
KL 0 0 0 0 1 1
KLF1, LOC117125592 0 0 0 0 1 1
KLF1, LOC130063673 0 0 0 0 1 1
KLHL24 0 0 1 0 0 1
KLHL3 0 1 0 0 0 1
KLHL41 0 0 0 0 1 1
KLLN 0 0 0 0 1 1
KLLN, LOC130004270 0 0 1 0 0 1
KLLN, PTEN 0 0 1 0 0 1
KMT2A, TTC36 0 1 0 0 0 1
KMT2B 1 0 0 0 0 1
KNL1 0 0 0 0 1 1
KRAS 0 0 1 0 0 1
KRIT1 0 0 0 0 1 1
KRT1 1 0 0 0 0 1
KRT12 0 0 1 0 0 1
KRT16 1 0 0 0 0 1
KRT4 0 0 0 0 1 1
KRT5 0 0 0 1 0 1
KRT5, LOC126861526 0 1 0 0 0 1
KRT6A 0 0 0 0 1 1
KRT6B 0 0 0 0 1 1
KRT81, KRT86 1 0 0 0 0 1
KRT85 0 0 0 0 1 1
KRT9 0 0 1 0 0 1
KRTAP10-3, TSPEAR 0 0 0 0 1 1
KRTAP10-7, TSPEAR 0 0 0 0 1 1
KYNU 0 1 0 0 0 1
L2HGDH 0 0 0 0 1 1
LALTOP, LOC126806104, TPO 0 0 1 0 0 1
LALTOP, TPO 0 0 0 0 1 1
LAMA2, LOC123864065 1 0 0 0 0 1
LAMA2, LOC126859784 1 0 0 0 0 1
LAMA4 0 0 0 0 1 1
LAMB3 0 1 0 0 0 1
LAMC2 1 0 0 0 0 1
LARP4B 0 0 1 0 0 1
LARP7, MIR302CHG 1 0 0 0 0 1
LARS1 0 0 0 0 1 1
LDB3, LOC110121486 1 0 0 0 0 1
LDLR, MIR6886 1 0 0 0 0 1
LEFTY2 0 0 1 0 0 1
LEMD2 0 0 0 0 1 1
LHX4 0 0 0 1 0 1
LIFR 0 0 1 0 0 1
LIG4 1 0 0 0 0 1
LIM2 1 0 0 0 0 1
LINGO1 1 0 0 0 0 1
LIPC 1 0 0 0 0 1
LIPE, LOC101930071 1 0 0 0 0 1
LMX1B 0 0 0 0 1 1
LOC100130357, PHACTR1, TBC1D7-LOC100130357 0 0 1 0 0 1
LOC105376032, PAX5 0 0 1 0 0 1
LOC106029312, NCF1 0 0 0 0 1 1
LOC108281134, SOX3 0 0 0 1 0 1
LOC108281182, NF1 1 0 0 0 0 1
LOC108903148, OPTN 0 0 0 1 0 1
LOC109611589, RUNX2 0 0 0 1 0 1
LOC110008580, ZIC2 0 0 0 0 1 1
LOC110011216, PHOX2B 1 0 0 0 0 1
LOC110120893, POLR2F, SOX10 0 0 1 0 0 1
LOC111162621, TP63 0 0 0 1 0 1
LOC112533671, TSEN54 0 0 0 0 1 1
LOC112533672, UNC13D 1 0 0 0 0 1
LOC112806037, MERTK 1 0 0 0 0 1
LOC112840921, OTOF 0 0 0 1 0 1
LOC114827832, NRXN1 0 0 0 0 1 1
LOC114827850, MYL2 1 0 0 0 0 1
LOC117125587, MAST1 1 0 0 0 0 1
LOC121740633, NSD1 0 0 1 0 0 1
LOC121852988, PLD3 0 0 0 0 1 1
LOC123522803, STING1 0 0 1 0 0 1
LOC123956210, SLC26A4 0 0 0 0 1 1
LOC125446261, MLC1 1 0 0 0 0 1
LOC125467768, PCDH19 1 0 0 0 0 1
LOC126806316, PAX8 0 0 0 1 0 1
LOC126806421, TTN 1 0 0 0 0 1
LOC126806427, TTN 0 0 0 0 1 1
LOC126806878, TBL1XR1 0 1 0 0 0 1
LOC126807011, RBPJ 0 1 0 0 0 1
LOC126807054, PDGFRA 0 0 0 1 0 1
LOC126807125, SLC39A8 0 1 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 1
LOC126859861, PLG 0 0 0 0 1 1
LOC126859871, PRKN 0 0 0 1 0 1
LOC126860342, WRN 0 0 0 0 1 1
LOC126860469, ZFPM2 0 0 1 0 0 1
LOC126861150, PLEKHA7 0 0 0 0 1 1
LOC126861339, SDHD 0 0 0 1 0 1
LOC126861478, LOC126861479, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7 1 0 0 0 0 1
LOC126861509, PRICKLE1 0 0 1 0 0 1
LOC126861897, MYH7 0 1 0 0 0 1
LOC126862123, SLC12A1 1 0 0 0 0 1
LOC126862493, MYH8, MYHAS 0 0 0 1 0 1
LOC126862500, MYH2, MYHAS 0 0 1 0 0 1
LOC126862501, MYH2, MYHAS 1 0 0 0 0 1
LOC126862987, SEC23B 1 0 0 0 0 1
LOC126863137, MYH9 0 0 1 0 0 1
LOC129391106, RYR1 0 0 1 0 0 1
LOC129931648, NTRK1 0 0 0 1 0 1
LOC129933706, MSH6 0 0 0 1 0 1
LOC129935026, TBR1 0 1 0 0 0 1
LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, RAF1, TMEM40 0 0 1 0 0 1
LOC129936244, XPC 0 0 1 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 0 0 1 1
LOC129992813, PKD2 0 0 0 0 1 1
LOC129993690, TRIO 0 0 1 0 0 1
LOC129993918, MAP3K1 0 0 0 0 1 1
LOC129994346, WDR36 0 0 1 0 0 1
LOC129994826, PURA 0 0 1 0 0 1
LOC129996493, PTK7 0 0 1 0 0 1
LOC129996991, REV3L 0 0 0 0 1 1
LOC129998833, SLC25A13 0 0 1 0 0 1
LOC130001681, SIGMAR1 0 0 0 0 1 1
LOC130002133, PTCH1 0 0 1 0 0 1
LOC130003079, MAN1B1 1 0 0 0 0 1
LOC130005368, RRAS2 0 0 1 0 0 1
LOC130007530, RECQL 0 0 0 1 0 1
LOC130056709, NIPA1 0 0 0 0 1 1
LOC130057309, MTFMT 0 0 1 0 0 1
LOC130058907, SLC5A2 0 1 0 0 0 1
LOC130060311, TTC19 1 0 0 0 0 1
LOC130060555, UNC119 0 0 0 0 1 1
LOC130060715, RAD51D, RAD51L3-RFFL 0 0 0 1 0 1
LOC130060903, NAGLU 1 0 0 0 0 1
LOC130062794, TXNL4A 1 0 0 0 0 1
LOC130063648, MAN2B1 1 0 0 0 0 1
LOC130064903, PPFIA3 0 0 1 0 0 1
LOC130064984, POLD1 0 0 0 1 0 1
LOC130065433, NDUFAF5 0 1 0 0 0 1
LOC130067016, LZTR1 0 0 0 0 1 1
LOC130067184, NF2 0 0 1 0 0 1
LOC130067862, TYMP 0 0 0 0 1 1
LOC130068621, NDUFA1 0 0 0 1 0 1
LOC130068854, MECP2 1 0 0 0 0 1
LOC340512, ZNF462 0 0 1 0 0 1
LONP2, SIAH1 0 1 0 0 0 1
LPIN1 0 0 1 0 0 1
LPO, MPO 0 0 1 0 0 1
LRP1 0 0 0 0 1 1
LRP2 0 0 0 0 1 1
LRP4 0 0 1 0 0 1
LRP6 0 0 1 0 0 1
LRPPRC 0 0 1 0 0 1
LRRC41, RAD54L 0 0 1 0 0 1
LTBP2 0 0 1 0 0 1
LTBP3 0 1 0 0 0 1
LTBP4 0 0 0 0 1 1
LURAP1L, TYRP1 0 0 0 0 1 1
MAD1L1 0 0 0 0 1 1
MAF 0 0 0 1 0 1
MAFB 1 0 0 0 0 1
MAGT1 0 0 0 0 1 1
MAK 1 0 0 0 0 1
MAK16, TTI2 0 0 1 0 0 1
MAP1A 1 0 0 0 0 1
MAP2K1 0 1 0 0 0 1
MAP2K3 0 0 1 0 0 1
MAP3K7 1 0 0 0 0 1
MAPK3 0 0 1 0 0 1
MAPK8IP3 0 0 1 0 0 1
MATN3 0 0 1 0 0 1
MCCC2 1 0 0 0 0 1
MCM4 0 0 0 0 1 1
MCM7 0 0 1 0 0 1
MEIS2 0 1 0 0 0 1
METTL5 1 0 0 0 0 1
MGME1 0 0 0 1 0 1
MHRT, MYH7 0 0 1 0 0 1
MID1 0 0 1 0 0 1
MIP 0 0 1 0 0 1
MKS1 0 0 1 0 0 1
MLC1 0 0 0 1 0 1
MMAA 1 0 0 0 0 1
MMADHC 0 0 1 0 0 1
MME 1 0 0 0 0 1
MMP13 0 0 0 1 0 1
MMP2 1 0 0 0 0 1
MMP9 0 0 0 0 1 1
MMP9, SLC12A5 0 0 0 0 1 1
MNX1 1 0 0 0 0 1
MPDZ 0 0 1 0 0 1
MPI 0 0 1 0 0 1
MPO 0 0 1 0 0 1
MPV17 0 1 0 0 0 1
MSH5, MSH5-SAPCD1 0 0 0 0 1 1
MSL3 0 0 1 0 0 1
MSN 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 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 0 0 0 0 1
MT-ATP6, MT-CO3 1 0 0 0 0 1
MT-ATP8 0 0 1 0 0 1
MT-CO1, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TF, MT-TI, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TV, MT-TW, MT-TY 0 0 1 0 0 1
MT-ND1, MT-TL1 1 0 0 0 0 1
MT-ND3 1 0 0 0 0 1
MT-ND4L 1 0 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1
MT-RNR1, RNR1 0 0 0 0 1 1
MT-TG 0 0 1 0 0 1
MTAP 0 0 0 0 1 1
MTHFD1 0 0 0 0 1 1
MYCN 0 0 0 0 1 1
MYCN, MYCNOS 1 0 0 0 0 1
MYH14 0 0 1 0 0 1
MYH8, MYHAS 0 0 0 0 1 1
MYL3 1 0 0 0 0 1
MYLK 0 0 0 0 1 1
MYLK2 0 0 0 1 0 1
MYO15B 0 0 0 0 1 1
MYO19, PIGW 0 0 1 0 0 1
MYO5A 0 0 0 0 1 1
MYOCD 0 0 0 0 1 1
MYOM2 0 0 0 0 1 1
MYORG 0 0 0 0 1 1
MYOT, PKD2L2-DT 0 0 0 0 1 1
MYPN 0 0 0 0 1 1
MYRF 0 0 1 0 0 1
NACC1 0 0 0 0 1 1
NAGA 1 0 0 0 0 1
NBEA 1 0 0 0 0 1
NCAPD3 0 0 1 0 0 1
NCAPH2, SCO2 0 0 0 0 1 1
NCKAP1 0 0 0 0 1 1
NCR1, NLRP7 0 0 1 0 0 1
NDUFA10 0 0 0 1 0 1
NDUFA12 1 0 0 0 0 1
NDUFAF6 0 0 0 1 0 1
NDUFB11 0 0 0 0 1 1
NDUFS2 0 0 0 1 0 1
NDUFS4 0 0 0 0 1 1
NDUFS6 0 0 0 0 1 1
NDUFV1 0 1 0 0 0 1
NECTIN1 0 0 0 0 1 1
NFE2L3 0 0 0 1 0 1
NHERF1, SLC9A3R1 0 0 0 0 1 1
NHS 0 1 0 0 0 1
NKAP 1 0 0 0 0 1
NKX3-2 1 0 0 0 0 1
NKX6-2 1 0 0 0 0 1
NLRP1 0 0 1 0 0 1
NMNAT1 0 1 0 0 0 1
NOD2 0 0 1 0 0 1
NPHP1 0 0 0 0 1 1
NPR2 0 0 1 0 0 1
NPRL2 1 0 0 0 0 1
NR0B1 0 0 0 0 1 1
NR2E3 1 0 0 0 0 1
NR3C1 0 0 0 0 1 1
NR5A1 0 0 1 0 0 1
NRAS 0 1 0 0 0 1
NRL, PCK2 0 0 1 0 0 1
NRP2 0 0 0 0 1 1
NRXN3 0 0 1 0 0 1
NSD2 0 1 0 0 0 1
NSDHL 0 0 0 0 1 1
NT5C2 1 0 0 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
NTN1 0 0 1 0 0 1
NTRK2 0 0 1 0 0 1
NTRK3 0 0 0 0 1 1
NUBPL 1 0 0 0 0 1
NUCKS1 0 0 1 0 0 1
NUP107 0 1 0 0 0 1
NUP37 1 0 0 0 0 1
NYX 0 0 1 0 0 1
OFD1, TRAPPC2 0 0 1 0 0 1
OGT 0 0 1 0 0 1
OPA3 0 0 1 0 0 1
OPTN 0 0 0 0 1 1
ORC4 0 0 0 0 1 1
OS9 0 0 0 1 0 1
OSMR 0 0 1 0 0 1
OSTM1 1 0 0 0 0 1
OTOA 1 0 0 0 0 1
OTOG 0 0 1 0 0 1
P3H1 1 0 0 0 0 1
P4HB 0 0 1 0 0 1
PACS1 1 0 0 0 0 1
PANO1, SLC25A22 0 0 0 0 1 1
PAX2 1 0 0 0 0 1
PAX5 0 0 0 1 0 1
PBX1 1 0 0 0 0 1
PCBD1 1 0 0 0 0 1
PCNA 0 1 0 0 0 1
PDE8B 0 0 0 1 0 1
PDHX 0 0 0 1 0 1
PET100, STXBP2 1 0 0 0 0 1
PEX11B 1 0 0 0 0 1
PEX16 0 0 0 0 1 1
PEX26 0 0 0 0 1 1
PEX7 0 0 0 0 1 1
PFN1 0 0 1 0 0 1
PGK1 0 0 1 0 0 1
PHF2 0 0 0 0 1 1
PHF6 0 0 1 0 0 1
PHF8 0 0 0 1 0 1
PHGDH 1 0 0 0 0 1
PHKB 1 0 0 0 0 1
PHYH 0 0 0 0 1 1
PI4KA 1 0 0 0 0 1
PI4KA, SERPIND1 0 0 0 0 1 1
PIBF1 0 0 0 0 1 1
PIEZO1 0 0 0 0 1 1
PIGO 0 1 0 0 0 1
PIK3R5 0 0 1 0 0 1
PINK1 0 0 0 0 1 1
PITX2 0 0 0 0 1 1
PLCB4 0 0 0 0 1 1
PLCG2 0 0 0 0 1 1
PLEKHG5 1 0 0 0 0 1
PLG 1 0 0 0 0 1
PLIN1 0 0 1 0 0 1
PLOD2 0 0 1 0 0 1
PLOD3 1 0 0 0 0 1
PLS3 0 1 0 0 0 1
PNPLA2 0 0 0 0 1 1
PNPLA6 0 0 0 1 0 1
POLG, POLGARF 0 0 1 0 0 1
POLG, RLBP1 1 0 0 0 0 1
POLR1A 0 0 0 1 0 1
POLR1D 0 0 1 0 0 1
POLRMT 0 0 1 0 0 1
POMGNT2 0 1 0 0 0 1
POMP 0 0 1 0 0 1
PPOX 0 0 1 0 0 1
PPP1R9B 0 0 0 0 1 1
PPP4R3A 0 0 0 0 1 1
PPT1 1 0 0 0 0 1
PQBP1 0 0 0 1 0 1
PRDM16 0 0 0 0 1 1
PREPL 1 0 0 0 0 1
PRG4 0 1 0 0 0 1
PRIMPOL 0 0 1 0 0 1
PRKCSH 0 1 0 0 0 1
PRORP, PRORP-PSMA6 0 0 1 0 0 1
PRPF3 0 0 1 0 0 1
PRPF4 0 0 1 0 0 1
PRPF6 0 0 1 0 0 1
PRR12 1 0 0 0 0 1
PRSS56 0 0 0 0 1 1
PSAP 1 0 0 0 0 1
PSAT1 0 1 0 0 0 1
PSMC3IP 0 0 1 0 0 1
PSMD12 0 0 1 0 0 1
PTDSS1 0 0 1 0 0 1
PTF1A 0 0 0 0 1 1
PTPRF 0 0 1 0 0 1
PTPRJ 0 0 0 0 1 1
PTS, TEX12 1 0 0 0 0 1
PUM1 1 0 0 0 0 1
RAC3 0 1 0 0 0 1
RAG2 0 0 0 1 0 1
RANBP2 1 0 0 0 0 1
RASA2 0 0 0 1 0 1
RB1CC1 0 1 0 0 0 1
RBBP6 0 0 0 1 0 1
RBCK1 1 0 0 0 0 1
RBFOX1 0 0 0 0 1 1
RBFOX2 0 0 1 0 0 1
RBM15 0 0 1 0 0 1
RBP3 0 0 0 0 1 1
RELN 0 0 0 0 1 1
RELT 1 0 0 0 0 1
RERE 1 0 0 0 0 1
RFT1 1 0 0 0 0 1
RFWD3 0 0 1 0 0 1
RGL2 0 0 1 0 0 1
RGS9BP 0 0 0 0 1 1
RHBDF2 0 0 0 0 1 1
RIMS1 0 0 1 0 0 1
RIN2 0 0 0 1 0 1
RIPK1 0 0 1 0 0 1
RIT1 1 0 0 0 0 1
RNASEH2A 0 1 0 0 0 1
RNASEH2B 1 0 0 0 0 1
RNF13 0 0 1 0 0 1
RNF216 0 0 1 0 0 1
ROBO2 0 0 0 0 1 1
ROBO4 0 0 1 0 0 1
ROCK2 0 0 0 0 1 1
ROR2 0 0 0 0 1 1
RORB 1 0 0 0 0 1
ROS1 0 0 1 0 0 1
RPGRIP1L 0 0 0 0 1 1
RPH3A 1 0 0 0 0 1
RPL3 0 0 1 0 0 1
RPL5 0 0 0 1 0 1
RPS19 0 1 0 0 0 1
RRAS 0 0 1 0 0 1
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 0 1 1
RTTN 0 0 0 0 1 1
RUNX1 0 0 0 1 0 1
RUSF1, SLC5A2 0 0 1 0 0 1
RXYLT1 1 0 0 0 0 1
SACK1H 0 0 1 0 0 1
SAG 1 0 0 0 0 1
SALL4 0 0 0 0 1 1
SAMD9L 1 0 0 0 0 1
SAMHD1 0 0 0 0 1 1
SATB1 1 0 0 0 0 1
SCARF2 0 1 0 0 0 1
SCN11A 0 1 0 0 0 1
SCP2 0 0 0 0 1 1
SDHD 0 0 0 1 0 1
SEC24D 0 0 0 0 1 1
SEC61A1 1 0 0 0 0 1
SEC63 0 0 1 0 0 1
SELENON 0 0 0 0 1 1
SEMA3E 0 0 1 0 0 1
SERAC1 0 0 1 0 0 1
SERPINC1 1 0 0 0 0 1
SERPINE1 0 0 0 0 1 1
SERPINF1 0 1 0 0 0 1
SERPING1 0 0 0 0 1 1
SFTPA1 0 0 1 0 0 1
SFTPB 0 0 1 0 0 1
SGCA 1 0 0 0 0 1
SGCG 0 0 0 0 1 1
SHANK2 0 0 1 0 0 1
SHROOM3 0 0 0 0 1 1
SIN3A 0 1 0 0 0 1
SIN3B 1 0 0 0 0 1
SIX2 0 0 0 0 1 1
SIX5 0 0 1 0 0 1
SKI 0 0 0 1 0 1
SKIDA1 0 0 0 0 1 1
SLC17A9 0 0 1 0 0 1
SLC1A2 0 0 0 0 1 1
SLC24A1 1 0 0 0 0 1
SLC25A46 0 1 0 0 0 1
SLC26A2 0 0 0 1 0 1
SLC26A8 0 0 1 0 0 1
SLC2A1, SLC2A1-DT 1 0 0 0 0 1
SLC2A9 0 0 1 0 0 1
SLC36A2 0 0 1 0 0 1
SLC38A8 1 0 0 0 0 1
SLC39A13 0 0 0 0 1 1
SLC3A1 1 0 0 0 0 1
SLC46A1 1 0 0 0 0 1
SLC4A11 0 0 1 0 0 1
SLC5A5 0 0 0 0 1 1
SLC6A19 0 0 0 0 1 1
SLC6A20 0 0 0 0 1 1
SLC7A9 0 0 0 0 1 1
SLCO1B1 1 0 0 0 0 1
SLCO1B3, SLCO1B3-SLCO1B7 0 0 1 0 0 1
SLCO2A1 0 0 1 0 0 1
SLCO5A1 0 0 1 0 0 1
SLK 0 0 1 0 0 1
SMAD2 0 1 0 0 0 1
SMAD6 1 0 0 0 0 1
SMARCC2 0 0 1 0 0 1
SMARCE1 0 0 1 0 0 1
SMO 0 0 1 0 0 1
SMPD4 1 0 0 0 0 1
SMS 1 0 0 0 0 1
SNAI2 0 0 0 0 1 1
SOCS3 0 0 0 0 1 1
SOS2 0 0 0 1 0 1
SOX17 0 0 0 1 0 1
SOX4 1 0 0 0 0 1
SOX6 1 0 0 0 0 1
SP9 1 0 0 0 0 1
SPEN 0 0 0 0 1 1
SPRY2 0 0 1 0 0 1
SRD5A3 1 0 0 0 0 1
SSBP1 1 0 0 0 0 1
SSBP1, TAS2R4 0 0 1 0 0 1
SSR4 0 1 0 0 0 1
ST3GAL5 0 0 0 0 1 1
STAG1 1 0 0 0 0 1
STAG2 0 0 1 0 0 1
STARD9 0 0 0 0 1 1
STAT5B 1 0 0 0 0 1
STIM1 0 0 1 0 0 1
STING1 0 0 0 0 1 1
STRA6 0 0 0 0 1 1
STRC 0 0 0 0 1 1
STUB1 0 0 1 0 0 1
SUGCT 0 0 1 0 0 1
SUMF1 1 0 0 0 0 1
SUMO4, TAB2 0 0 0 0 1 1
SYN3, TIMP3 0 0 0 0 1 1
SYNCRIP 0 0 1 0 0 1
SYT14 0 0 0 1 0 1
TACC2 0 0 0 0 1 1
TAFAZZIN 0 0 0 0 1 1
TANGO2 0 0 1 0 0 1
TAOK1 1 0 0 0 0 1
TAPBP 0 0 0 0 1 1
TARDBP 0 1 0 0 0 1
TARS2 0 0 1 0 0 1
TAT 0 1 0 0 0 1
TBC1D23 0 0 0 1 0 1
TBC1D24 0 1 0 0 0 1
TBCK 0 0 0 0 1 1
TBL1X 0 0 1 0 0 1
TBR1 0 0 1 0 0 1
TBX18 0 0 0 0 1 1
TBX20 0 0 1 0 0 1
TBX4 0 1 0 0 0 1
TBXA2R 0 0 0 0 1 1
TCAP 0 0 0 1 0 1
TCIRG1 1 0 0 0 0 1
TDRD7 0 0 1 0 0 1
TEAD1 0 0 0 0 1 1
TEK 0 0 0 0 1 1
TERF2IP 0 0 1 0 0 1
TFAP2A 0 0 0 1 0 1
TFE3 0 0 1 0 0 1
TFG 1 0 0 0 0 1
TFR2 0 0 1 0 0 1
TGFB3 0 0 1 0 0 1
TGM1 0 0 0 1 0 1
TGM1, TINF2 0 0 1 0 0 1
THBD 0 0 0 0 1 1
THRA 0 0 1 0 0 1
THRB 0 0 1 0 0 1
THSD1 0 0 1 0 0 1
TIA1 0 0 0 1 0 1
TIMM22 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TLCD3B 1 0 0 0 0 1
TM9SF4 0 0 1 0 0 1
TMC1 0 0 1 0 0 1
TMEM165 0 0 0 0 1 1
TMEM237 0 0 0 0 1 1
TMEM260 0 0 0 1 0 1
TMEM43 0 0 0 0 1 1
TMEM63C 0 0 0 0 1 1
TMPRSS15 0 0 1 0 0 1
TNC 0 0 1 0 0 1
TNFRSF11B 1 0 0 0 0 1
TNNT3 0 0 1 0 0 1
TNPO3 0 1 0 0 0 1
TNRC6B 1 0 0 0 0 1
TNXB 0 0 0 0 1 1
TOP2B 0 0 1 0 0 1
TP53BP1, TUBGCP4 1 0 0 0 0 1
TPI1 0 0 1 0 0 1
TPRN 0 0 0 0 1 1
TRAK1 0 0 0 0 1 1
TRAPPC4 1 0 0 0 0 1
TRDN 0 0 0 0 1 1
TRIOBP 0 0 0 0 1 1
TRIP4 0 1 0 0 0 1
TRIT1 1 0 0 0 0 1
TRNT1 0 0 0 0 1 1
TRPA1 0 0 1 0 0 1
TRPM1 0 0 0 1 0 1
TRPV3 1 0 0 0 0 1
TRPV6 1 0 0 0 0 1
TSEN34 0 1 0 0 0 1
TSFM 0 0 1 0 0 1
TSPEAR 0 0 1 0 0 1
TTBK2 0 0 0 0 1 1
TUBB4B 0 0 1 0 0 1
TUBGCP4 1 0 0 0 0 1
TUBGCP6 0 0 0 0 1 1
TUSC3 0 0 0 1 0 1
TWNK 0 0 1 0 0 1
U2AF2 0 1 0 0 0 1
UBAP1 1 0 0 0 0 1
UBE2A 0 1 0 0 0 1
UBE3B 1 0 0 0 0 1
UBE4A 0 1 0 0 0 1
UBQLN2 0 0 1 0 0 1
UGDH 0 0 0 0 1 1
UNC119 0 0 0 0 1 1
UNC13A 0 0 1 0 0 1
UNC79 0 0 1 0 0 1
UROS 0 0 0 0 1 1
USH1C 0 0 0 0 1 1
USP50, USP8 0 0 1 0 0 1
USP53 1 0 0 0 0 1
USP7 1 0 0 0 0 1
UVSSA 0 0 0 0 1 1
VCAN 0 1 0 0 0 1
VCP 0 1 0 0 0 1
VKORC1 0 0 0 0 1 1
VPS16 1 0 0 0 0 1
VRK1 0 0 1 0 0 1
VWA8 0 0 0 0 1 1
WAC 1 0 0 0 0 1
WASF1 0 0 1 0 0 1
WASHC5 0 0 0 1 0 1
WDR11 0 0 0 0 1 1
WDR37 1 0 0 0 0 1
WDR47 0 1 0 0 0 1
WDR81 0 0 1 0 0 1
WIPF1 0 0 0 0 1 1
WNK1 1 0 0 0 0 1
WNT5A 0 0 0 0 1 1
XYLT2 0 0 0 0 1 1
YARS1 0 0 1 0 0 1
YWHAE 1 0 0 0 0 1
ZBTB42 0 0 0 0 1 1
ZBTB47 0 0 0 0 1 1
ZC4H2 0 1 0 0 0 1
ZDHHC9 0 0 1 0 0 1
ZFYVE27 0 0 0 0 1 1
ZIC2 0 0 1 0 0 1
ZIC3 0 0 0 1 0 1
ZMIZ1 0 0 1 0 0 1
ZMPSTE24 1 0 0 0 0 1
ZMYND11 0 0 1 0 0 1
ZNF462 1 0 0 0 0 1
ZNF644 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1914
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 13 3 1345 35 519 1915
Hereditary cancer 0 4 79 331 1 415
Familial cancer of breast 80 39 173 94 15 401
Breast-ovarian cancer, familial, susceptibility to, 2 24 22 123 126 44 339
Cystic fibrosis 207 31 57 14 11 320
Ataxia-telangiectasia syndrome 34 12 160 63 49 318
Duchenne muscular dystrophy 191 15 10 16 6 238
Breast-ovarian cancer, familial, susceptibility to, 1 28 12 39 73 43 195
Familial adenomatous polyposis 1 10 4 117 33 18 182
Hereditary breast ovarian cancer syndrome 77 4 59 1 16 157
Neurofibromatosis, type 1 50 10 40 17 7 124
Hereditary cancer-predisposing syndrome 8 11 56 35 4 114
Familial X-linked hypophosphatemic vitamin D refractory rickets 87 22 1 0 0 110
Familial Mediterranean fever 4 1 91 0 2 98
Lynch syndrome 13 1 84 0 0 98
Fanconi anemia complementation group A 7 5 31 39 13 95
Lynch syndrome 5 4 6 26 45 13 94
Lynch syndrome 1 11 5 24 25 21 86
not provided 18 9 10 18 27 82
Bloom syndrome 11 4 40 23 1 79
Becker muscular dystrophy 74 1 0 0 0 75
Colorectal cancer, hereditary nonpolyposis, type 2 1 6 17 36 13 73
Familial adenomatous polyposis 2 12 4 34 18 4 72
Brugada syndrome 1 3 0 37 10 16 66
Hereditary diffuse gastric adenocarcinoma 3 2 27 19 15 66
Multiple endocrine neoplasia type 2A 2 0 38 14 10 64
Severe myoclonic epilepsy in infancy 27 18 7 4 7 63
Papillary renal cell carcinoma type 1 2 0 38 18 4 62
Retinitis pigmentosa 36 8 4 5 3 56
Lynch syndrome 4 3 3 27 17 5 55
Usher syndrome type 2A 19 11 3 1 19 53
Leber congenital amaurosis 1 18 12 6 8 8 52
Retinoblastoma 4 1 15 10 22 52
Colorectal cancer, susceptibility to, 12 0 0 20 28 1 49
Severe early-childhood-onset retinal dystrophy 29 6 8 4 2 49
Marfan syndrome 16 13 4 6 9 48
Peutz-Jeghers syndrome 2 1 21 20 4 48
Hypertrophic cardiomyopathy 4 3 0 28 3 13 47
Joubert syndrome 1 14 8 6 3 15 46
PTEN hamartoma tumor syndrome 3 5 15 12 9 44
Generalized epilepsy with febrile seizures plus, type 2 38 4 1 0 0 43
Microcephaly, normal intelligence and immunodeficiency 3 3 23 13 1 43
Colorectal cancer, susceptibility to, 10 0 0 9 33 0 42
Hereditary pancreatitis 28 6 2 1 3 40
Retinitis pigmentosa 25 32 1 3 1 3 40
Familial colorectal cancer 0 0 34 4 0 38
Polycystic kidney disease, adult type 17 3 4 4 10 38
Neurofibromatosis, type 2 12 1 15 4 5 37
Tuberous sclerosis 2 14 4 2 10 7 37
Melanoma-pancreatic cancer syndrome 1 2 10 18 5 36
Squamous cell carcinoma of the head and neck 2 8 7 13 6 36
Thrombophilia, X-linked, due to factor 8 defect 27 1 6 0 0 34
Leber optic atrophy 29 0 1 0 3 33
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 29 1 2 0 0 32
Seizures, benign familial infantile, 3 13 12 3 1 2 31
Breast-ovarian cancer, familial, susceptibility to, 4 1 4 13 12 0 30
Bethlem myopathy 1A 8 5 5 1 9 28
Fanconi anemia complementation group J 1 1 25 0 1 28
Hypercholesterolemia, familial, 1 14 2 4 0 7 27
MELAS syndrome 23 0 1 0 2 26
Developmental and epileptic encephalopathy, 2 16 5 0 2 2 25
Fanconi anemia complementation group O 2 4 5 13 1 25
Kabuki syndrome 1 9 2 6 5 3 25
Malignant hyperthermia, susceptibility to, 1 2 1 9 0 13 25
Ichthyosis vulgaris 20 4 0 0 0 24
Merosin deficient congenital muscular dystrophy 17 3 0 1 3 24
Rett syndrome 11 4 1 3 5 24
Stickler syndrome type 1 11 9 1 0 3 24
Adrenoleukodystrophy 9 7 1 3 3 23
Wilson disease 9 4 4 2 4 23
Developmental and epileptic encephalopathy, 9 14 6 1 1 0 22
Hereditary nonpolyposis colon cancer 0 1 0 8 13 22
Neuronal ceroid lipofuscinosis 8 8 2 1 3 22
Progressive familial intrahepatic cholestasis type 1 6 9 6 0 1 22
Biotinidase deficiency 13 4 3 1 0 21
Gorlin syndrome 8 1 8 3 1 21
Multiple endocrine neoplasia, type 1 3 2 8 4 4 21
Autosomal recessive nonsyndromic hearing loss 2 8 2 5 0 5 20
Hypertrophic cardiomyopathy 1 0 6 6 2 6 20
Lung carcinoma 1 0 6 12 1 20
Rubinstein-Taybi syndrome due to CREBBP mutations 4 4 4 7 1 20
Seizures, benign familial neonatal, 1 10 6 0 1 3 20
Sotos syndrome 13 2 2 0 3 20
Wiedemann-Steiner syndrome 13 5 1 1 0 20
Cowden syndrome 1 4 3 2 8 2 19
Prostate cancer 13 1 3 0 2 19
Infantile neuroaxonal dystrophy 10 8 0 0 0 18
Transient bullous dermolysis of the newborn 9 9 0 0 0 18
Episodic kinesigenic dyskinesia 1 13 1 0 1 2 17
Intellectual disability, autosomal dominant 6 8 8 0 1 0 17
Landau-Kleffner syndrome 2 4 3 7 1 17
Nemaline myopathy 2 9 4 2 0 2 17
Tuberous sclerosis 1 10 0 3 2 2 17
X-linked Alport syndrome 7 4 1 0 5 17
Autosomal recessive polycystic kidney disease 5 4 2 1 4 16
CHARGE syndrome 9 1 2 2 2 16
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 7 5 2 0 2 16
Episodic ataxia type 2 5 5 1 2 3 16
Leigh syndrome 3 5 4 1 3 16
Long QT syndrome 2 0 0 11 0 5 16
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 10 4 2 16
Mitochondrial complex IV deficiency, nuclear type 1 11 1 2 0 2 16
Mitochondrial disease 16 0 0 0 0 16
Retinitis pigmentosa-deafness syndrome 0 0 1 0 15 16
Type 2 diabetes mellitus 6 4 6 0 0 16
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 6 1 3 1 4 15
Fabry disease 6 3 2 3 1 15
Fanconi anemia complementation group C 7 1 4 3 0 15
Galactosylceramide beta-galactosidase deficiency 6 6 1 0 2 15
Glycogen storage disease IXa1 9 5 1 0 0 15
Hereditary factor VIII deficiency disease 4 4 3 1 3 15
Hereditary spastic paraplegia 4 10 3 1 0 1 15
Ornithine carbamoyltransferase deficiency 7 4 2 0 2 15
Age related macular degeneration 2 11 3 0 0 0 14
Amyloidosis, hereditary systemic 1 9 2 1 1 1 14
Charcot-Marie-Tooth disease X-linked dominant 1 10 3 0 1 0 14
Developmental and epileptic encephalopathy, 13 3 9 1 1 0 14
Developmental and epileptic encephalopathy, 14 4 1 3 3 3 14
Dilated cardiomyopathy 1G 5 0 2 2 5 14
Drash syndrome 3 1 6 3 1 14
Familial medullary thyroid carcinoma 0 0 14 0 0 14
Fanconi anemia complementation group U 0 0 11 3 0 14
Glutaric aciduria, type 1 7 4 0 0 3 14
Glycogen storage disease type III 10 2 2 0 0 14
Hereditary insensitivity to pain with anhidrosis 0 1 6 6 1 14
Leri-Weill dyschondrosteosis 12 0 2 0 0 14
Li-Fraumeni syndrome 8 0 5 0 1 14
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 8 6 0 0 0 14
Neurodevelopmental disorder 9 2 3 0 0 14
Osteogenesis imperfecta type I 11 0 1 2 0 14
Propionic acidemia 11 0 2 0 1 14
Usher syndrome type 2C 4 1 2 0 7 14
Autoimmune lymphoproliferative syndrome type 1 4 0 3 4 2 13
Congenital hyperammonemia, type I 6 3 2 1 1 13
Early-onset myopathy with fatal cardiomyopathy 12 0 1 0 0 13
Ehlers-Danlos syndrome, classic type 3 5 2 1 2 13
Maple syrup urine disease 7 5 1 0 0 13
Phenylketonuria 8 1 2 0 2 13
Retinitis pigmentosa 3 7 4 1 0 1 13
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 6 0 3 0 3 12
Adams-Oliver syndrome 5 0 1 2 6 3 12
Autosomal dominant Parkinson disease 8 1 0 9 2 0 12
BAP1-related tumor predisposition syndrome 1 0 8 2 1 12
Colorectal cancer 9 2 0 0 1 12
Developmental and epileptic encephalopathy, 4 8 3 1 0 0 12
Gastrointestinal stromal tumor 1 1 4 5 1 12
Glycine encephalopathy 6 3 0 2 1 12
Gnathodiaphyseal dysplasia 2 1 2 2 5 12
Kleefstra syndrome 1 5 1 3 3 0 12
Mowat-Wilson syndrome 7 1 2 2 0 12
Niemann-Pick disease, type C1 9 2 0 0 1 12
Progressive sclerosing poliodystrophy 4 0 2 3 3 12
Wilms tumor 1 0 0 11 0 1 12
Arrhythmogenic right ventricular dysplasia 9 0 1 2 0 8 11
Bartter disease type 3 8 1 1 0 1 11
Charcot-Marie-Tooth disease type 2A2 1 5 3 1 1 11
Coffin-Siris syndrome 1 8 0 2 0 1 11
Cohen syndrome 4 0 1 4 2 11
Cone-rod dystrophy 6 4 1 4 0 2 11
Dystonia 9 11 0 0 0 0 11
Hereditary spastic paraplegia 11 9 0 0 1 1 11
Hyperlipidemia, familial combined, LPL related 10 1 0 0 0 11
Multiple acyl-CoA dehydrogenase deficiency 5 4 0 0 2 11
Pitt-Hopkins syndrome 9 1 0 1 0 11
Choroideremia 9 0 1 0 0 10
Dyskinesia with orofacial involvement, autosomal dominant 2 5 1 1 1 10
Familial hemophagocytic lymphohistiocytosis 2 3 2 2 2 1 10
Familial hypocalciuric hypercalcemia 1 2 2 2 1 3 10
Intellectual disability, autosomal dominant 5 7 2 1 0 0 10
Leber congenital amaurosis 13 5 5 0 0 0 10
Leber congenital amaurosis 2 6 3 0 0 1 10
Metachromatic leukodystrophy 6 0 1 1 2 10
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 6 1 2 1 0 10
Very long chain acyl-CoA dehydrogenase deficiency 5 2 2 0 1 10
beta Thalassemia 4 0 0 1 5 10
Alstrom syndrome 8 0 0 0 1 9
Angelman syndrome 4 5 0 0 0 9
Autosomal dominant optic atrophy classic form 2 3 2 0 2 9
Autosomal recessive limb-girdle muscular dystrophy type 2A 6 0 1 0 2 9
Brain-lung-thyroid syndrome 3 1 3 1 1 9
Congenital diarrhea 5 with tufting enteropathy 0 0 2 1 6 9
Cowden syndrome 6 0 0 5 1 3 9
Developmental and epileptic encephalopathy, 1 4 2 1 0 2 9
Developmental and epileptic encephalopathy, 17 5 4 0 0 0 9
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 5 4 0 0 0 9
Hyperinsulinemic hypoglycemia, familial, 1 3 1 2 2 1 9
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 0 1 7 1 9
Intellectual disability-severe speech delay-mild dysmorphism syndrome 4 3 2 0 0 9
Interstitial lung disease 2 0 1 4 2 2 9
Long QT syndrome 1 1 0 3 2 3 9
Maturity-onset diabetes of the young type 3 1 0 3 2 3 9
Menkes kinky-hair syndrome 1 2 2 1 3 9
Mucopolysaccharidosis, MPS-IV-A 3 4 0 0 2 9
Neurodegeneration with brain iron accumulation 5 7 2 0 0 0 9
Patterned macular dystrophy 1 5 1 0 1 2 9
Rhabdoid tumor predisposition syndrome 2 2 0 2 4 1 9
Syndromic X-linked intellectual disability Najm type 5 3 0 1 0 9
Timothy syndrome 2 1 3 0 3 9
Wolfram syndrome 1 2 0 1 1 5 9
X-linked intellectual disability-psychosis-macroorchidism syndrome 9 0 0 0 0 9
Alpha-1-antitrypsin deficiency 4 1 2 0 1 8
Amyotrophic lateral sclerosis type 1 2 1 3 0 2 8
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 3 2 2 8
Autosomal recessive nonsyndromic hearing loss 1A 3 0 1 0 4 8
Cardiofaciocutaneous syndrome 1 2 5 0 1 0 8
Cornelia de Lange syndrome 1 4 2 1 1 0 8
Developmental and epileptic encephalopathy 94 4 2 2 0 0 8
Developmental and epileptic encephalopathy, 26 3 5 0 0 0 8
Developmental and epileptic encephalopathy, 54 7 1 0 0 0 8
Dystonia 12 3 4 1 0 0 8
Epilepsy with myoclonic atonic seizures 2 5 1 0 0 8
Frontotemporal dementia 3 1 1 1 2 8
Knobloch syndrome 2 0 0 2 4 8
Mitochondrial complex II deficiency, nuclear type 1 0 2 0 3 3 8
Neuronal ceroid lipofuscinosis 7 4 4 0 0 0 8
Neuropathy, hereditary sensory and autonomic, type 2A 2 2 0 2 2 8
Pontocerebellar hypoplasia type 6 5 3 0 0 0 8
Renal carnitine transport defect 7 1 0 0 0 8
Retinitis pigmentosa 41 6 0 2 0 0 8
Von Hippel-Lindau syndrome 0 2 5 0 1 8
Werner syndrome 1 1 2 1 3 8
Xeroderma pigmentosum group B 2 1 0 1 4 8
Xeroderma pigmentosum, group D 3 0 2 2 1 8
Xeroderma pigmentosum, group F 0 0 3 5 0 8
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 5 1 0 1 0 7
Acromicric dysplasia 5 2 0 0 0 7
Asphyxiating thoracic dystrophy 3 1 2 1 0 3 7
Autosomal recessive ataxia, Beauce type 1 0 2 1 3 7
Baller-Gerold syndrome 1 1 3 2 0 7
Charcot-Marie-Tooth disease axonal type 2O 0 3 3 1 0 7
Charcot-Marie-Tooth disease type 1B 2 5 0 0 0 7
Charlevoix-Saguenay spastic ataxia 3 3 0 1 0 7
Cognitive impairment with or without cerebellar ataxia 6 1 0 0 0 7
Congenital muscular hypertrophy-cerebral syndrome 3 4 0 0 0 7
Deficiency of aromatic-L-amino-acid decarboxylase 3 3 0 1 0 7
Developmental and epileptic encephalopathy, 25 2 2 3 0 0 7
Endometrial carcinoma 6 0 1 0 0 7
Epilepsy, familial focal, with variable foci 1 0 3 2 2 0 7
Familial hypokalemia-hypomagnesemia 2 1 2 0 2 7
Glycogen storage disease IXc 4 2 1 0 0 7
Hemochromatosis type 1 3 0 3 0 1 7
Hereditary spastic paraplegia 30 1 3 1 2 0 7
Hereditary spastic paraplegia 3A 3 4 0 0 0 7
Holt-Oram syndrome 2 0 0 3 2 7
Hurler syndrome 1 1 1 2 2 7
Intellectual disability, X-linked 1 6 0 1 0 0 7
Lymphangiomyomatosis 7 0 0 0 0 7
MERRF syndrome 4 0 0 0 3 7
McKusick-Kaufman syndrome 3 0 0 0 4 7
Medium-chain acyl-coenzyme A dehydrogenase deficiency 5 1 1 0 0 7
Metachondromatosis 2 0 1 2 2 7
Myopathy, proximal, and ophthalmoplegia 2 0 3 0 2 7
Occult macular dystrophy 0 0 1 5 1 7
Ovarian dysgenesis 2 5 0 1 0 1 7
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 5 2 0 0 0 7
Pigmentary pallidal degeneration 3 3 0 0 1 7
Retinitis pigmentosa 38 4 2 0 0 1 7
Retinitis pigmentosa 4 4 3 0 0 0 7
Tyrosinemia type I 3 1 2 0 1 7
X-linked agammaglobulinemia 4 1 0 2 0 7
Adenylosuccinate lyase deficiency 3 3 0 0 0 6
Alexander disease 3 1 1 1 0 6
Allan-Herndon-Dudley syndrome 4 2 0 0 0 6
Amyotrophic lateral sclerosis type 4 1 1 1 0 3 6
Argininosuccinate lyase deficiency 4 1 0 1 0 6
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2 4 0 0 0 6
Autosomal recessive distal spinal muscular atrophy 1 4 2 0 0 0 6
Autosomal recessive hypophosphatemic bone disease 2 0 1 1 2 6
Autosomal recessive inherited pseudoxanthoma elasticum 2 2 1 0 1 6
Autosomal recessive nonsyndromic hearing loss 3 2 0 2 2 0 6
Birt-Hogg-Dube syndrome 1 0 2 2 1 6
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 1 3 6
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 4 2 0 0 0 6
Charcot-Marie-Tooth disease axonal type 2N 3 0 0 1 2 6
Cholestanol storage disease 3 2 0 1 0 6
Combined oxidative phosphorylation defect type 20 2 1 0 0 3 6
Combined oxidative phosphorylation defect type 8 4 1 0 0 1 6
Congenital generalized lipodystrophy type 2 5 1 0 0 0 6
Cyclical neutropenia 3 1 1 0 1 6
DE SANCTIS-CACCHIONE SYNDROME 2 0 2 1 1 6
DICER1-related tumor predisposition 0 0 1 4 1 6
Deafness-lymphedema-leukemia syndrome 1 3 1 1 0 6
Ehlers-Danlos syndrome, type 4 1 0 0 1 4 6
Encephalopathy due to GLUT1 deficiency 5 1 0 0 0 6
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 1 2 2 0 6
Fetal akinesia deformation sequence 1 3 1 0 0 2 6
Genitopatellar syndrome 2 2 0 2 0 6
Glycogen storage disease, type II 4 0 1 0 1 6
Hajdu-Cheney syndrome 1 0 1 2 2 6
Hereditary spastic paraplegia 7 4 1 0 0 1 6
Hypercholesterolemia, autosomal dominant, type B 5 1 0 0 0 6
Hypochondroplasia 3 0 0 3 0 6
Infantile cortical hyperostosis 2 4 0 0 0 6
Intellectual disability, X-linked 102 6 0 0 0 0 6
Koolen-de Vries syndrome 2 1 0 2 1 6
Marshall-Smith syndrome 5 0 0 1 0 6
Maturity-onset diabetes of the young type 2 3 2 1 0 0 6
Melanoma, cutaneous malignant, susceptibility to, 2 1 0 5 0 0 6
Mosaic variegated aneuploidy syndrome 1 0 0 1 2 3 6
Moyamoya disease 2 4 0 1 0 1 6
Mucopolysaccharidosis, MPS-III-B 4 2 0 0 0 6
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 2 4 0 0 0 6
Noonan syndrome 1 0 1 4 1 0 6
Pendred syndrome 1 2 0 1 2 6
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 0 1 5 6
Pigmentary retinal dystrophy 4 2 0 0 0 6
Pontocerebellar hypoplasia type 4 1 1 1 0 3 6
Primary hyperoxaluria, type I 2 1 0 2 1 6
Protoporphyria, erythropoietic, 1 1 3 0 0 2 6
Pyruvate dehydrogenase E1-alpha deficiency 3 1 0 2 0 6
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 3 1 1 1 0 6
Short QT syndrome type 1 6 0 0 0 0 6
Singleton-Merten syndrome 1 1 1 0 3 1 6
Sulfite oxidase deficiency 0 5 0 1 0 6
Tay-Sachs disease 3 2 0 1 0 6
Thrombophilia, X-linked, due to factor 9 defect 3 1 2 0 0 6
Treacher Collins syndrome 1 3 0 1 1 1 6
Usher syndrome type 1F 2 0 0 0 4 6
X-linked distal spinal muscular atrophy type 3 4 2 0 0 0 6
X-linked hydrocephalus syndrome 1 1 0 1 3 6
X-linked severe congenital neutropenia 4 0 1 1 0 6
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2 0 1 2 0 5
Aarskog syndrome 2 0 2 1 0 5
Achromatopsia 3 2 1 0 0 2 5
Achromatopsia 7 1 0 1 1 2 5
Actin accumulation myopathy 2 3 0 0 0 5
Alagille syndrome due to a JAG1 point mutation 3 0 0 1 1 5
Amyotrophic lateral sclerosis type 6 0 1 2 0 2 5
Aortic aneurysm, familial thoracic 4 2 0 1 1 1 5
Arginase deficiency 2 3 0 0 0 5
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2 0 0 0 3 5
Autosomal recessive Alport syndrome 0 0 4 0 1 5
Autosomal recessive distal renal tubular acidosis 1 3 0 0 1 5
Autosomal recessive limb-girdle muscular dystrophy type 2E 4 1 0 0 0 5
Central core myopathy 3 2 0 0 0 5
Charcot-Marie-Tooth disease axonal type 2Z 3 0 2 0 0 5
Charcot-Marie-Tooth disease type 4C 4 0 0 0 1 5
Citrullinemia type I 2 0 1 1 1 5
Complement component 2 deficiency 1 0 0 1 3 5
Cone dystrophy 3 1 1 0 0 3 5
Cone-rod dystrophy 15 1 0 4 0 0 5
Congenital contractural arachnodactyly 1 0 0 2 2 5
Congenital microvillous atrophy 3 2 0 0 0 5
Cowden syndrome 0 0 5 0 0 5
Diabetes insipidus, nephrogenic, X-linked 1 1 3 0 0 5
Dyskeratosis congenita, autosomal recessive 5 0 1 3 0 1 5
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 2 1 0 2 0 5
Fibrochondrogenesis 1 2 0 1 0 2 5
Finnish congenital nephrotic syndrome 1 2 1 1 0 5
Fraser syndrome 1 0 0 0 0 5 5
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 4 0 0 0 1 5
GTP cyclohydrolase I deficiency 2 1 0 0 2 5
Generalized juvenile polyposis/juvenile polyposis coli 1 1 0 0 3 5
Glycogen storage disease, type V 1 1 2 0 1 5
Glycogen storage disease, type VI 2 1 1 0 1 5
Greig cephalopolysyndactyly syndrome 0 1 0 3 1 5
Hepatocellular carcinoma 3 1 0 1 0 5
Holoprosencephaly 1 0 0 1 1 3 5
Houge-Janssens syndrome 1 2 1 1 1 0 5
Hutchinson-Gilford syndrome 1 3 0 0 1 5
Hyperekplexia 3 1 0 1 0 3 5
Hypertrophic cardiomyopathy 2 0 0 2 0 3 5
Hypogonadotropic hypogonadism 7 with or without anosmia 0 0 1 3 1 5
Hypohidrotic X-linked ectodermal dysplasia 0 1 4 0 0 5
Hypotonia, ataxia, and delayed development syndrome 2 2 1 0 0 5
Infantile liver failure syndrome 2 0 4 0 1 0 5
Intellectual disability, autosomal dominant 1 0 0 3 2 0 5
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 1 0 2 1 1 5
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 2 0 1 0 5
LEOPARD syndrome 2 1 2 1 0 1 5
Lesch-Nyhan syndrome 2 2 0 1 0 5
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2 1 1 0 1 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2 1 1 1 0 5
Malignant tumor of esophagus 5 0 0 0 0 5
Metaphyseal chondrodysplasia, Schmid type 0 2 0 0 3 5
Methylcobalamin deficiency type cblG 1 2 0 1 1 5
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2 2 0 0 1 5
Mitochondrial DNA depletion syndrome 9 5 0 0 0 0 5
Mitochondrial trifunctional protein deficiency 3 1 0 0 1 5
Mucopolysaccharidosis type 6 4 0 0 0 1 5
Mucopolysaccharidosis, MPS-II 2 1 0 1 1 5
Multiple congenital anomalies-hypotonia-seizures syndrome 1 3 1 0 0 1 5
Mutilating keratoderma 5 0 0 0 0 5
Myofibrillar myopathy 6 0 0 0 0 5 5
Nephronophthisis 4 0 0 1 1 3 5
Nicolaides-Baraitser syndrome 1 1 1 1 1 5
Nijmegen breakage syndrome-like disorder 0 0 1 3 1 5
O'Donnell-Luria-Rodan syndrome 0 2 3 0 0 5
Oculocutaneous albinism type 1A 3 0 0 1 1 5
Oligodontia-cancer predisposition syndrome 0 0 2 2 1 5
Osteogenesis imperfecta, perinatal lethal 4 1 0 0 0 5
Peroxisome biogenesis disorder 4A (Zellweger) 2 1 0 0 2 5
Pierpont syndrome 1 4 0 0 0 5
Pigmented paravenous retinochoroidal atrophy 3 2 0 0 0 5
Poirier-Bienvenu neurodevelopmental syndrome 2 3 0 0 0 5
Progressive familial intrahepatic cholestasis type 2 1 3 0 0 1 5
Pseudohypoaldosteronism, type IB1, autosomal recessive 2 0 1 0 2 5
Pyridoxine-dependent epilepsy 1 1 0 1 2 5
Retinitis pigmentosa 26 2 2 0 0 1 5
Schinzel-Giedion syndrome 0 0 2 2 1 5
Schwartz-Jampel syndrome 1 1 0 2 1 5
Seckel syndrome 1 0 0 2 0 3 5
Severe combined immunodeficiency due to DCLRE1C deficiency 2 0 1 0 2 5
Shwachman-Diamond syndrome 1 2 3 0 0 0 5
Skraban-Deardorff syndrome 4 1 0 0 0 5
Smith-Magenis syndrome 1 1 0 1 2 5
Surfactant metabolism dysfunction, pulmonary, 4 5 0 0 0 0 5
Thyroid dyshormonogenesis 6 2 0 1 0 2 5
Upshaw-Schulman syndrome 1 0 0 0 4 5
Vanishing white matter disease 4 1 0 0 0 5
Vitelliform macular dystrophy 2 2 1 0 0 2 5
Xeroderma pigmentosum, group G 1 0 1 2 1 5
von Willebrand disease type 1 5 0 0 0 0 5
8q24.3 microdeletion syndrome 4 0 0 0 0 4
ALG1-congenital disorder of glycosylation 0 2 1 0 1 4
Achromatopsia 2 3 1 0 0 0 4
Acute intermittent porphyria 3 0 0 0 1 4
Age related macular degeneration 1 0 0 1 0 3 4
Alpha thalassemia-X-linked intellectual disability syndrome 0 3 1 0 0 4
Alpha-methylacyl-CoA racemase deficiency 0 0 2 0 2 4
Androgen resistance syndrome 0 0 1 0 3 4
Asphyxiating thoracic dystrophy 5 3 0 1 0 0 4
Autosomal dominant Alport syndrome 1 0 3 0 0 4
Autosomal recessive DOPA responsive dystonia 2 2 0 0 0 4
Autosomal recessive ataxia due to ubiquinone deficiency 4 0 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 89 1 2 0 0 1 4
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 2 1 4
BLOOD GROUP--LUTHERAN INHIBITOR 1 0 0 0 3 4
Bardet-Biedl syndrome 1 3 0 0 1 0 4
Bardet-Biedl syndrome 2 2 0 1 0 1 4
Bartter disease type 1 3 0 0 1 0 4
Bietti crystalline corneoretinal dystrophy 1 1 0 0 2 4
Brain small vessel disease 2A, autosomal dominant 0 1 0 0 3 4
Cerebroretinal microangiopathy with calcifications and cysts 1 2 0 2 0 0 4
Charcot-Marie-Tooth disease axonal type 2C 0 0 0 2 2 4
Clark-Baraitser syndrome 1 1 2 0 0 4
Classic homocystinuria 0 0 2 1 1 4
Combined immunodeficiency due to DOCK8 deficiency 0 1 3 0 0 4
Combined immunodeficiency due to LRBA deficiency 1 2 1 0 0 4
Congenital diarrhea 7 with exudative enteropathy 4 0 0 0 0 4
Congenital glucose-galactose malabsorption 3 1 0 0 0 4
Congenital myasthenic syndrome 5 3 0 0 0 1 4
Congenital myotonia, autosomal recessive form 1 1 1 0 1 4
Congenital stationary night blindness 2A 0 0 1 2 1 4
Cornelia de Lange syndrome 3 1 2 0 1 0 4
Corpus callosum agenesis-abnormal genitalia syndrome 3 1 0 0 0 4
Creatine transporter deficiency 2 0 2 0 0 4
Deficiency of galactokinase 0 2 1 0 1 4
Desmin-related myofibrillar myopathy 2 0 1 0 1 4
Developmental and epileptic encephalopathy, 5 2 0 1 0 1 4
Dilated cardiomyopathy 1DD 0 0 1 1 2 4
Dystonia 16 2 0 0 0 2 4
Ectopia lentis 2, isolated, autosomal recessive 4 0 0 0 0 4
Ehlers-Danlos syndrome, classic type, 1 2 1 1 0 0 4
Exostoses, multiple, type 1 1 0 2 0 1 4
FOXG1 disorder 2 1 1 0 0 4
Familial hemophagocytic lymphohistiocytosis 4 3 0 1 0 0 4
Familial hemophagocytic lymphohistiocytosis 5 2 1 0 0 1 4
Familial juvenile hyperuricemic nephropathy type 1 2 1 1 0 0 4
Familial porphyria cutanea tarda 3 0 1 0 0 4
Floating-Harbor syndrome 0 0 0 4 0 4
Freeman-Sheldon syndrome 0 0 0 1 3 4
Fructose-biphosphatase deficiency 3 1 0 0 0 4
GM1 gangliosidosis type 2 3 0 1 0 0 4
Gilbert syndrome 3 1 0 0 0 4
Glycogen storage disease, type IV 2 1 0 0 1 4
Hereditary factor XI deficiency disease 4 0 0 0 0 4
Hereditary spastic paraplegia 15 3 0 0 0 1 4
Hereditary spastic paraplegia 35 2 2 0 0 0 4
Hereditary spherocytosis type 4 1 0 0 0 3 4
Huntington disease-like 1 0 0 1 1 2 4
Hyperphosphatasia with intellectual disability syndrome 3 0 1 3 0 0 4
Hypertrophic cardiomyopathy 14 0 0 2 0 2 4
Hypomyelinating leukodystrophy 2 0 3 1 0 0 4
Hypoparathyroidism, deafness, renal disease syndrome 3 0 1 0 0 4
Hypothyroidism, congenital, nongoitrous, 2 0 0 0 4 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 0 2 0 0 4
Immunodeficiency 27A 2 1 1 0 0 4
Immunodeficiency 31B 1 1 1 1 0 4
Immunodeficiency, common variable, 2 2 1 1 0 0 4
Infantile cerebellar-retinal degeneration 1 2 0 1 0 4
Intellectual developmental disorder with autism and macrocephaly 2 0 2 0 0 4
Intellectual disability, autosomal dominant 14 0 2 1 1 0 4
Intellectual disability, autosomal dominant 24 1 2 1 0 0 4
Interstitial lung disease due to ABCA3 deficiency 2 0 0 0 2 4
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2 1 0 0 1 4
Lissencephaly due to LIS1 mutation 2 2 0 0 0 4
Low phospholipid associated cholelithiasis 4 0 0 0 0 4
Macrocephaly-developmental delay syndrome 2 1 1 0 0 4
Maturity-onset diabetes of the young type 4 0 0 1 1 2 4
Mitochondrial DNA depletion syndrome 13 2 2 0 0 0 4
Mitochondrial non-syndromic sensorineural hearing loss 4 0 0 0 0 4
Mucolipidosis type II 1 2 0 1 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 1 2 0 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 3 1 2 0 1 0 4
Muscle eye brain disease 0 2 0 1 1 4
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 3 1 0 0 0 4
Neutropenia, severe congenital, 2, autosomal dominant 0 0 0 4 0 4
Non-Hodgkin lymphoma 1 0 2 1 0 4
Osteochondritis dissecans 1 0 0 2 1 4
Otospondylomegaepiphyseal dysplasia, autosomal recessive 2 0 0 1 1 4
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2 2 0 0 0 4
PMM2-congenital disorder of glycosylation 4 0 0 0 0 4
Peeling skin syndrome 1 1 2 0 0 1 4
Pelizaeus-Merzbacher disease 3 1 0 0 0 4
Pheochromocytoma 1 0 2 1 0 4
Polyglandular autoimmune syndrome, type 1 2 0 1 0 1 4
Primary open angle glaucoma 0 0 2 1 1 4
Primrose syndrome 1 1 0 2 0 4
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 1 3 0 0 0 4
Pyropoikilocytosis, hereditary 1 2 0 0 1 4
Radial aplasia-thrombocytopenia syndrome 4 0 0 0 0 4
Renal-hepatic-pancreatic dysplasia 1 1 0 0 0 3 4
SLC35A2-congenital disorder of glycosylation 1 3 0 0 0 4
Senior-Loken syndrome 5 1 0 0 0 3 4
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 0 4 0 4
Sinoatrial node dysfunction and deafness 0 1 1 2 0 4
Sjögren-Larsson syndrome 3 0 0 0 1 4
Spinocerebellar ataxia type 29 1 0 1 0 2 4
Symmetrical dyschromatosis of extremities 2 2 0 0 0 4
Syndromic X-linked intellectual disability 94 1 1 0 1 1 4
Syndromic X-linked intellectual disability Claes-Jensen type 3 1 0 0 0 4
T-B+ severe combined immunodeficiency due to JAK3 deficiency 2 1 0 1 0 4
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 1 0 2 4
Thrombophilia due to protein S deficiency, autosomal dominant 0 0 1 0 3 4
Tyrosinase-positive oculocutaneous albinism 2 0 0 0 2 4
Vici syndrome 3 0 0 0 1 4
Vitamin D-dependent rickets type II with alopecia 2 0 1 0 1 4
X-linked lymphoproliferative disease due to XIAP deficiency 3 0 0 0 1 4
X-linked severe combined immunodeficiency 3 1 0 0 0 4
Xeroderma pigmentosum, group C 0 0 3 0 1 4
3M syndrome 2 0 1 1 0 1 3
46,XY sex reversal 9 0 0 1 1 1 3
Achondroplasia 3 0 0 0 0 3
Acrocephalosyndactyly type I 3 0 0 0 0 3
Acyl-CoA oxidase deficiency 2 0 0 0 1 3
Amyotrophic lateral sclerosis type 11 2 0 0 0 1 3
Arthrogryposis, distal, with impaired proprioception and touch 2 0 0 0 1 3
Arthrogryposis, renal dysfunction, and cholestasis 1 2 0 0 0 1 3
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 3 0 0 0 0 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 0 0 0 3 3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 1 1 3
Ataxia-telangiectasia-like disorder 1 2 1 0 0 0 3
Atrial septal defect 7 0 0 0 2 1 3
Au-Kline syndrome 1 2 0 0 0 3
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 2 0 3
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 2 3
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 0 0 1 3
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 0 3 0 3
Autosomal dominant nonsyndromic hearing loss 20 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 30 1 0 0 0 2 3
Autosomal recessive nonsyndromic hearing loss 77 0 0 0 0 3 3
Bardet-Biedl syndrome 10 2 0 1 0 0 3
Bardet-Biedl syndrome 9 2 0 0 0 1 3
Benign familial hematuria 2 1 0 0 0 3
Benign hereditary chorea 2 1 0 0 0 3
Bethlem myopathy 1C 0 0 3 0 0 3
Bifunctional peroxisomal enzyme deficiency 1 1 0 0 1 3
Bohring-Opitz syndrome 2 0 1 0 0 3
Brain small vessel disease 1 with or without ocular anomalies 1 2 0 0 0 3
CTCF-related neurodevelopmental disorder 2 0 0 1 0 3
Cardiac arrhythmia, ankyrin-B-related 0 0 0 2 1 3
Carnitine palmitoyl transferase II deficiency, myopathic form 3 0 0 0 0 3
Carnitine palmitoyl transferase II deficiency, severe infantile form 1 0 0 0 2 3
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2 0 0 1 0 3
Charcot-Marie-Tooth disease axonal type 2P 0 1 1 0 1 3
Charcot-Marie-Tooth disease type 4A 1 1 1 0 0 3
Chondrodysplasia punctata 2 X-linked dominant 2 0 1 0 0 3
Christianson syndrome 0 1 0 0 2 3
Chromosome 2q32-q33 deletion syndrome 2 1 0 0 0 3
Chédiak-Higashi syndrome 0 0 1 1 1 3
Cleidocranial dysostosis 2 0 0 1 0 3
Cobalamin C disease 2 0 1 0 0 3
Coffin-Lowry syndrome 1 1 0 0 1 3
Combined immunodeficiency with skin granulomas 3 0 0 0 0 3
Complex cortical dysplasia with other brain malformations 5 1 2 0 0 0 3
Cone-rod dystrophy 2 2 1 0 0 0 3
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 2 1 0 0 3
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 0 0 2 3
Congenital dyserythropoietic anemia, type II 1 0 1 1 0 3
Congenital generalized lipodystrophy type 1 3 0 0 0 0 3
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 2 0 0 1 3
Congenital multicore myopathy with external ophthalmoplegia 1 2 0 0 0 3
Corneal dystrophy, Fuchs endothelial, 8 0 0 2 1 0 3
Cornelia de Lange syndrome 5 2 0 1 0 0 3
Cortical dysplasia-focal epilepsy syndrome 1 0 0 0 2 3
Crigler-Najjar syndrome, type II 1 2 0 0 0 3
DOCK2 deficiency 0 0 2 0 1 3
DPAGT1-congenital disorder of glycosylation 0 3 0 0 0 3
DYRK1A-related intellectual disability syndrome 3 0 0 0 0 3
Danon disease 1 0 1 1 0 3
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2 1 0 0 0 3
Deficiency of ferroxidase 1 0 1 1 0 3
Deficiency of hydroxymethylglutaryl-CoA lyase 2 0 1 0 0 3
Dent disease type 1 2 0 1 0 0 3
Dent disease type 2 2 1 0 0 0 3
Dermatopathia pigmentosa reticularis 0 3 0 0 0 3
Developmental and epileptic encephalopathy, 24 0 0 1 2 0 3
Developmental and epileptic encephalopathy, 30 1 0 0 1 1 3
Developmental and epileptic encephalopathy, 42 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 44 3 0 0 0 0 3
Developmental and epileptic encephalopathy, 46 2 0 1 0 0 3
Developmental and epileptic encephalopathy, 50 1 1 0 1 0 3
Diaphyseal dysplasia 1 1 1 0 0 3
Dihydropteridine reductase deficiency 3 0 0 0 0 3
Dilated cardiomyopathy 1O 0 0 1 0 2 3
Dystonia 5 2 1 0 0 0 3
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0 0 0 0 3 3
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 0 1 2 0 3
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 0 1 2 3
Ehlers-Danlos syndrome, dermatosparaxis type 1 1 0 0 1 3
Epilepsy 1 1 1 0 0 3
Epiphyseal dysplasia, multiple, 3 0 0 1 0 2 3
Exercise-induced hyperinsulinism 1 0 1 1 0 3
Exostoses, multiple, type 2 0 0 0 3 0 3
FRAXE 0 0 1 2 0 3
Familial hemophagocytic lymphohistiocytosis 3 3 0 0 0 0 3
Familial isolated deficiency of vitamin E 1 1 0 0 1 3
GRACILE syndrome 0 2 0 0 1 3
Glucocorticoid deficiency with achalasia 3 0 0 0 0 3
Glucose-6-phosphate transport defect 2 1 0 0 0 3
Glycogen storage disease IXd 1 1 0 1 0 3
Glycosylphosphatidylinositol biosynthesis defect 15 2 1 0 0 0 3
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 3 0 0 0 0 3
Granulomatous disease, chronic, X-linked 1 1 0 1 0 3
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 1 0 1 1 3
Heinz body anemia 3 0 0 0 0 3
Hemolytic anemia due to hexokinase deficiency 2 1 0 0 0 3
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 1 0 1 3
Hereditary fructosuria 2 1 0 0 0 3
Hereditary spherocytosis type 1 0 0 0 1 2 3
Holocarboxylase synthetase deficiency 2 1 0 0 0 3
Hyperimmunoglobulin D with periodic fever 1 1 0 1 0 3
Hypogonadotropic hypogonadism 16 with or without anosmia 0 0 3 0 0 3
Hypogonadotropic hypogonadism 3 with or without anosmia 1 0 1 1 0 3
Hypokalemic periodic paralysis, type 1 0 1 1 1 0 3
Ichthyosis prematurity syndrome 2 1 0 0 0 3
Infantile GM1 gangliosidosis 2 1 0 0 0 3
Infantile-onset ascending hereditary spastic paralysis 1 2 0 0 0 3
Intellectual developmental disorder with dysmorphic facies and ptosis 3 0 0 0 0 3
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 1 1 1 0 0 3
Intellectual disability, X-linked 93 0 0 1 1 1 3
Intellectual disability, X-linked syndromic, Turner type 1 0 1 1 0 3
Intellectual disability, X-linked, syndromic 33 2 0 1 0 0 3
Intellectual disability, autosomal dominant 22 2 1 0 0 0 3
Intellectual disability, autosomal dominant 3 0 0 0 3 0 3
Intellectual disability, autosomal dominant 33 0 0 3 0 0 3
Intellectual disability, autosomal dominant 39 0 3 0 0 0 3
Intellectual disability, autosomal dominant 56 2 0 1 0 0 3
Intellectual disability, autosomal recessive 42 0 2 0 1 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 2 0 0 0 3
Iodotyrosyl coupling defect 0 0 2 0 1 3
Isovaleryl-CoA dehydrogenase deficiency 3 0 0 0 0 3
Joubert syndrome 23 1 0 0 0 2 3
Juvenile myoclonic epilepsy 0 2 1 0 0 3
KBG syndrome 0 2 1 0 0 3
Keratosis follicularis 0 0 0 0 3 3
Lethal multiple pterygium syndrome 0 1 0 0 2 3
Leukocyte adhesion deficiency 1 0 0 0 2 1 3
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 1 0 2 0 0 3
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2 0 1 0 0 3
Lewy body dementia 3 0 0 0 0 3
Lower motor neuron syndrome with late-adult onset 0 0 0 0 3 3
Lymphatic malformation 6 0 0 1 0 2 3
MHC class I deficiency 0 0 0 0 3 3
Malignant tumor of urinary bladder 1 2 0 0 0 3
Meconium ileus 0 0 0 2 1 3
Methylcobalamin deficiency type cblE 3 0 0 0 0 3
Microcephaly 7, primary, autosomal recessive 0 0 0 2 1 3
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 1 2 0 0 0 3
Mitochondrial DNA depletion syndrome, myopathic form 3 0 0 0 0 3
Mucopolysaccharidosis type 7 0 0 3 0 0 3
Mucopolysaccharidosis, MPS-III-C 0 0 1 1 1 3
Muir-Torré syndrome 3 0 0 0 0 3
Myoclonic dystonia 11 3 0 0 0 0 3
Myoclonic epilepsy, progressive, X-linked 0 1 0 0 2 3
Myofibrillar myopathy 4 0 0 0 0 3 3
Myofibrillar myopathy 5 1 1 1 0 0 3
Nephropathic cystinosis 2 0 0 1 0 3
Nephrotic syndrome, type 3 2 1 0 0 0 3
Neural tube defects, folate-sensitive 1 0 0 1 1 3
Neuroblastoma 0 0 2 1 0 3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2 0 0 1 0 3
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 0 1 2 3
Neuronal ceroid lipofuscinosis 2 3 0 0 0 0 3
Neutrophil immunodeficiency syndrome 0 0 1 2 0 3
Noonan syndrome 2 1 2 0 0 0 3
Oculopharyngeal muscular dystrophy 3 0 0 0 0 3
Odonto-onycho-dermal dysplasia 1 0 1 1 0 3
Ogden syndrome 1 2 0 0 0 3
Okur-Chung neurodevelopmental syndrome 1 2 0 0 0 3
Orofaciodigital syndrome type 6 3 0 0 0 0 3
Osteopathia striata with cranial sclerosis 0 1 1 1 0 3
Osteoporosis with pseudoglioma 0 1 0 1 1 3
PERCHING syndrome 0 0 0 0 3 3
Pigmented nodular adrenocortical disease, primary, 2 2 0 1 0 0 3
Polycystic kidney disease 2 0 1 1 0 1 3
Posterior column ataxia-retinitis pigmentosa syndrome 1 1 0 0 1 3
Progressive bulbar palsy of childhood 3 0 0 0 0 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 2 0 0 0 3
Progressive familial heart block, type 1A 1 0 2 0 0 3
Progressive myoclonic epilepsy type 8 0 1 1 1 0 3
Pyruvate carboxylase deficiency 0 3 0 0 0 3
Rahman syndrome 2 0 1 0 0 3
Renal cell carcinoma 0 0 0 0 3 3
Renal tubular acidosis with progressive nerve deafness 2 1 0 0 0 3
Retinitis pigmentosa 43 3 0 0 0 0 3
Rotor syndrome 2 0 1 0 0 3
SLC39A8-CDG 2 1 0 0 0 3
Seckel syndrome 7 0 0 0 0 3 3
Severe X-linked myotubular myopathy 2 0 0 0 1 3
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 0 0 2 3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 1 0 0 0 3
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2 1 0 0 0 3
Sitosterolemia 0 0 1 0 2 3
Snijders blok-fisher syndrome 2 1 0 0 0 3
Spinocerebellar ataxia 46 2 0 0 0 1 3
Spinocerebellar ataxia type 14 0 3 0 0 0 3
Spinocerebellar ataxia type 23 0 0 3 0 0 3
Spinocerebellar ataxia type 35 0 0 1 0 2 3
Succinyl-CoA acetoacetate transferase deficiency 1 1 0 0 1 3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 0 0 3 0 3
TELO2-related intellectual disability-neurodevelopmental disorder 3 0 0 0 0 3
Teebi hypertelorism syndrome 0 0 0 2 1 3
Townes-Brocks syndrome 1 1 0 1 1 0 3
Transcobalamin II deficiency 1 0 0 0 2 3
Usher syndrome type 1 1 0 2 0 0 3
Van Maldergem syndrome 2 0 0 1 0 2 3
Ververi-Brady syndrome 2 0 1 0 0 3
Warsaw breakage syndrome 0 0 0 1 2 3
Wolcott-Rallison dysplasia 0 0 0 0 3 3
X-linked intellectual disability, Cantagrel type 2 1 0 0 0 3
X-linked sideroblastic anemia 1 0 0 1 1 1 3
ZTTK syndrome 3 0 0 0 0 3
2-aminoadipic 2-oxoadipic aciduria 0 1 0 1 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 0 0 2 2
3M syndrome 1 1 1 0 0 0 2
AICA-ribosiduria 0 1 0 0 1 2
ANE syndrome 1 1 0 0 0 2
Acral peeling skin syndrome 1 1 0 0 0 2
Acute myeloid leukemia 1 1 0 0 0 2
Acyl-CoA dehydrogenase 9 deficiency 0 0 0 0 2 2
Adams-Oliver syndrome 2 0 1 0 0 1 2
Adenosine kinase deficiency 0 1 0 0 1 2
Adult hypophosphatasia 2 0 0 0 0 2
Agammaglobulinemia 5, autosomal dominant 0 0 0 2 0 2
Al-Raqad syndrome 1 0 0 1 0 2
Alzheimer disease type 1 1 1 0 0 0 2
Amelocerebrohypohidrotic syndrome 0 0 0 2 0 2
Aminoacylase 1 deficiency 0 0 2 0 0 2
Amyotrophic lateral sclerosis type 8 1 0 0 1 0 2
Amyotrophic lateral sclerosis type 9 0 0 1 0 1 2
Aneurysm-osteoarthritis syndrome 0 1 0 0 1 2
Aniridia 1 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 10 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia 11 0 0 0 0 2 2
Arthrogryposis, distal, type 1A 1 0 0 0 1 2
Atypical hemolytic-uremic syndrome with C3 anomaly 0 1 0 0 1 2
Atypical hemolytic-uremic syndrome with I factor anomaly 0 0 0 1 1 2
Autoimmune lymphoproliferative syndrome type 2B 0 0 0 2 0 2
Autosomal dominant Robinow syndrome 1 1 0 0 0 1 2
Autosomal dominant Robinow syndrome 2 1 0 0 1 0 2
Autosomal dominant auditory neuropathy 1 0 0 0 1 1 2
Autosomal dominant centronuclear myopathy 0 0 1 0 1 2
Autosomal dominant isolated somatotropin deficiency 1 0 0 0 1 2
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 1 0 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 1 0 0 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 2A 1 0 0 0 1 2
Autosomal dominant osteopetrosis 2 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 1 0 0 1 1 0 2
Autosomal recessive congenital ichthyosis 2 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2F 0 0 0 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2K 0 1 0 0 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2P 0 0 0 0 2 2
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 0 1 2
Autosomal recessive proximal renal tubular acidosis 0 0 0 0 2 2
Autosomal recessive spastic paraplegia type 76 2 0 0 0 0 2
Baraitser-Winter syndrome 1 2 0 0 0 0 2
Bartter disease type 4B 0 0 1 0 1 2
Basal laminar drusen 0 0 0 0 2 2
Beckwith-Wiedemann syndrome 1 0 0 1 0 2
Biotin-responsive basal ganglia disease 1 0 0 0 1 2
Blau syndrome 0 0 2 0 0 2
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 1 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 0 0 0 2
Brittle cornea syndrome 1 0 0 0 0 2 2
Brown-Vialetto-van Laere syndrome 2 1 0 0 1 0 2
Brugada syndrome 4 0 0 0 0 2 2
Brugada syndrome 5 0 0 0 0 2 2
Brugada syndrome 8 0 0 1 0 1 2
COG4-congenital disorder of glycosylation 0 0 0 0 2 2
COG6-congenital disorder of glycosylation 0 1 1 0 0 2
Carcinoma of colon 0 0 1 1 0 2
Carney-Stratakis syndrome 0 0 0 2 0 2
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 1 1 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 1 1 0 0 0 2
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 2 0 0 0 2
Cerebral folate transport deficiency 1 0 1 0 0 2
Charcot-Marie-Tooth disease type 2E 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 1 2
Charcot-Marie-Tooth disease type 4B2 2 0 0 0 0 2
Chromosome 2q37 deletion syndrome 0 0 0 1 1 2
Cleft palate with or without ankyloglossia, X-linked 0 0 0 0 2 2
Coffin-Siris syndrome 6 1 0 1 0 0 2
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 1 0 2
Combined oxidative phosphorylation defect type 11 1 1 0 0 0 2
Combined oxidative phosphorylation defect type 13 1 1 0 0 0 2
Combined oxidative phosphorylation defect type 17 0 0 0 0 2 2
Combined oxidative phosphorylation defect type 24 0 0 1 0 1 2
Combined oxidative phosphorylation deficiency 44 2 0 0 0 0 2
Combined oxidative phosphorylation deficiency 60 2 0 0 0 0 2
Complement component 6 deficiency 2 0 0 0 0 2
Complex cortical dysplasia with other brain malformations 7 1 0 0 1 0 2
Cone dystrophy 4 1 0 0 0 1 2
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 1 0 0 2
Congenital afibrinogenemia 2 0 0 0 0 2
Congenital disorder of glycosylation type 1E 2 0 0 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 0 0 2
Congenital myasthenic syndrome 10 2 0 0 0 0 2
Congenital myasthenic syndrome 18 0 2 0 0 0 2
Congenital myasthenic syndrome 4A 2 0 0 0 0 2
Congenital myasthenic syndrome 8 0 1 0 1 0 2
Congenital myopathy 4B, autosomal recessive 0 2 0 0 0 2
Congenital myotonia, autosomal dominant form 1 0 1 0 0 2
Congenital secretory diarrhea, chloride type 2 0 0 0 0 2
Corneal dystrophy, Fuchs endothelial, 6 0 0 1 0 1 2
Cornelia de Lange syndrome 4 1 0 0 1 0 2
Cranioectodermal dysplasia 1 0 2 0 0 0 2
Cranioectodermal dysplasia 2 0 0 0 0 2 2
Crouzon syndrome 0 1 0 1 0 2
Cystinuria 1 0 0 0 1 2
D-2-hydroxyglutaric aciduria 1 0 0 0 0 2 2
Deafness dystonia syndrome 1 1 0 0 0 2
Deafness, X-linked 5 0 0 1 0 1 2
Deficiency of beta-ureidopropionase 0 0 1 1 0 2
Deficiency of butyryl-CoA dehydrogenase 0 0 0 1 1 2
Deficiency of cytochrome-b5 reductase 2 0 0 0 0 2
Deficiency of iodide peroxidase 0 0 1 0 1 2
Deficiency of phosphoserine phosphatase 0 0 0 2 0 2
Dejerine-Sottas disease 2 0 0 0 0 2
Developmental and epileptic encephalopathy 91 2 0 0 0 0 2
Developmental and epileptic encephalopathy 97 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 11 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 23 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 28 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 31A 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 32 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 36 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 55 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 56 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 57 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 62 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 65 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 69 2 0 0 0 0 2
Developmental delay with autism spectrum disorder and gait instability 0 2 0 0 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 1 2
Developmental delay, impaired speech, and behavioral abnormalities 0 2 0 0 0 2
DiGeorge syndrome 0 0 1 0 1 2
Diamond-Blackfan anemia 1 0 0 0 2 0 2
Dihydropyrimidine dehydrogenase deficiency 0 0 0 1 1 2
Dilated cardiomyopathy 1A 0 1 1 0 0 2
Dilated cardiomyopathy 1W 0 0 0 0 2 2
Distal arthrogryposis type 5D 2 0 0 0 0 2
Dyskeratosis congenita, autosomal recessive 6 1 1 0 0 0 2
Early-onset generalized limb-onset dystonia 2 0 0 0 0 2
Ehlers-Danlos syndrome, kyphoscoliotic type 1 1 0 1 0 0 2
Elevated circulating creatine kinase concentration 1 0 1 0 0 2
Elliptocytosis 2 1 0 1 0 0 2
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 0 1 0 1 2
Epidermolysis bullosa 2 0 0 0 0 2
Epidermolysis bullosa simplex 1A, generalized severe 1 1 0 0 0 2
Epidermolysis bullosa simplex 1C, localized 1 0 0 1 0 2
Epilepsy, childhood absence, susceptibility to, 5 1 1 0 0 0 2
Epilepsy, early-onset, vitamin B6-dependent 0 0 2 0 0 2
Epilepsy, familial focal, with variable foci 3 0 1 1 0 0 2
Epiphyseal dysplasia, multiple, 6 0 0 0 1 1 2
Epithelial recurrent erosion dystrophy 1 1 0 0 0 2
Exudative vitreoretinopathy 1 1 0 0 0 1 2
FG syndrome 1 0 1 0 0 1 2
Factor V deficiency 0 0 1 1 0 2
Familial adenomatous polyposis 3 1 1 0 0 0 2
Familial adenomatous polyposis 4 0 1 0 1 0 2
Familial cold autoinflammatory syndrome 1 0 0 0 0 2 2
Familial dysautonomia 0 0 0 0 2 2
Familial hyperthyroidism due to mutations in TSH receptor 0 0 1 0 1 2
Familial infantile myasthenia 0 0 0 0 2 2
Familial partial lipodystrophy, Dunnigan type 1 0 1 0 0 2
Familial type 5 hyperlipoproteinemia 2 0 0 0 0 2
Familial visceral amyloidosis, Ostertag type 0 0 1 0 1 2
Fanconi anemia complementation group D2 2 0 0 0 0 2
Fanconi anemia complementation group E 0 1 1 0 0 2
Farber lipogranulomatosis 0 0 0 0 2 2
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0 2 0 0 0 2
Fragile X syndrome 0 0 0 1 1 2
Fumarase deficiency 0 0 0 1 1 2
Galloway-Mowat syndrome 1 0 1 0 0 1 2
Gaucher disease type I 0 0 2 0 0 2
Ghosal hematodiaphyseal dysplasia 1 0 0 0 1 2
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 1 1 0 0 0 2
Glucocorticoid-remediable aldosteronism 2 0 0 0 0 2
HNSHA due to aldolase A deficiency 0 0 0 1 1 2
Hawkinsinuria 0 0 1 0 1 2
Hepatitis C virus, susceptibility to 0 0 0 0 2 2
Hereditary diffuse leukoencephalopathy with spheroids 1 0 1 0 0 2
Hereditary liability to pressure palsies 0 1 0 0 1 2
Hereditary spastic paraplegia 31 0 0 1 0 1 2
Hereditary spastic paraplegia 45 2 0 0 0 0 2
Hereditary spastic paraplegia 47 1 0 0 0 1 2
Hereditary spastic paraplegia 64 1 1 0 0 0 2
Heterotaxy, visceral, 2, autosomal 0 0 0 0 2 2
Houge-Janssens syndrome 2 0 0 0 2 0 2
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 2 0 0 0 2
Hypercholanemia, familial 1 2 0 0 0 0 2
Hypercholesterolemia, autosomal dominant, 3 1 0 0 0 1 2
Hyperglycinuria 0 0 1 0 1 2
Hyperlipoproteinemia, type I 0 0 1 0 1 2
Hypertrophic cardiomyopathy 10 1 1 0 0 0 2
Hypogonadotropic hypogonadism 1 with or without anosmia 0 0 2 0 0 2
Hypogonadotropic hypogonadism 4 with or without anosmia 1 0 0 0 1 2
Hypomyelinating leukodystrophy 9 0 0 0 0 2 2
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 0 0 0 0 2 2
Hypospadias 2, X-linked 0 0 1 0 1 2
Idiopathic CD4 lymphocytopenia 0 0 0 0 2 2
Imagawa-Matsumoto syndrome 1 1 0 0 0 2
Imerslund-Grasbeck syndrome 0 0 2 0 0 2
Immunodeficiency 104 0 0 0 0 2 2
Immunodeficiency, common variable, 12 2 0 0 0 0 2
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 1 0 1 0 0 2
Infantile nephronophthisis 0 0 0 0 2 2
Inosine triphosphatase deficiency 2 0 0 0 0 2
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 1 1 0 0 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 1 0 0 0 2
Intellectual disability, X-linked 46 0 0 1 1 0 2
Intellectual disability, X-linked 58 1 0 1 0 0 2
Intellectual disability, autosomal dominant 45 0 1 0 1 0 2
Intellectual disability, autosomal dominant 46 2 0 0 0 0 2
Intellectual disability, autosomal dominant 48 1 1 0 0 0 2
Intellectual disability, autosomal recessive 18 1 1 0 0 0 2
Intellectual disability-epilepsy-extrapyramidal syndrome 1 0 1 0 0 2
Irido-corneo-trabecular dysgenesis 0 0 0 0 2 2
Joubert syndrome 20 0 0 1 0 1 2
Joubert syndrome 9 1 1 0 0 0 2
Junctional epidermolysis bullosa with pyloric atresia 0 0 1 0 1 2
Kleefstra syndrome 2 1 0 1 0 0 2
Kufor-Rakeb syndrome 1 0 1 0 0 2
Lamb-Shaffer syndrome 1 1 0 0 0 2
Larsen syndrome 0 1 0 1 0 2
Larsen-like syndrome, B3GAT3 type 1 0 0 0 1 2
Legius syndrome 2 0 0 0 0 2
Lethal congenital contracture syndrome 9 0 0 0 0 2 2
Leukodystrophy and acquired microcephaly with or without dystonia; 1 0 0 0 1 2
Lipase deficiency, combined 2 0 0 0 0 2
Lissencephaly due to TUBA1A mutation 1 1 0 0 0 2
Loeys-Dietz syndrome 1 0 0 1 1 0 2
Long QT syndrome 6 0 0 0 1 1 2
Lowe syndrome 0 0 0 0 2 2
Lysosomal acid lipase deficiency 1 1 0 0 0 2
MYH7-related skeletal myopathy 1 1 0 0 0 2
Macrocephaly-autism syndrome 0 0 2 0 0 2
Macrothrombocytopenia, isolated, 1, autosomal dominant 1 0 1 0 0 2
Marinesco-Sjögren syndrome 0 1 0 1 0 2
Maturity-onset diabetes of the young 0 0 1 0 1 2
Maturity-onset diabetes of the young type 1 2 0 0 0 0 2
McCune-Albright syndrome 0 0 1 0 1 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 1 0 2
Meier-Gorlin syndrome 4 0 0 0 0 2 2
Metaphyseal anadysplasia 2 0 0 0 0 2 2
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 0 1 1 2
Methylmalonic aciduria, cblB type 0 1 0 0 1 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 2 0 0 0 0 2
Microcephaly and chorioretinopathy 3 2 0 0 0 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 1 0 0 0 2
Microphthalmia with brain and digit anomalies 0 0 0 1 1 2
Mirror movements 1 0 0 1 0 1 2
Mitochondrial DNA deletion syndrome with progressive myopathy 1 0 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 24 0 0 0 0 2 2
Mitochondrial complex I deficiency, nuclear type 26 0 0 2 0 0 2
Mitochondrial complex III deficiency nuclear type 1 2 0 0 0 0 2
Multiple endocrine neoplasia type 4 0 0 1 1 0 2
Multiple epiphyseal dysplasia type 1 1 1 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 0 0 2 0 2
Myeloperoxidase deficiency 0 0 2 0 0 2
Nanophthalmos 2 2 0 0 0 0 2
Nemaline myopathy 6 0 0 0 0 2 2
Neonatal diabetes mellitus with congenital hypothyroidism 0 0 0 0 2 2
Nephrotic syndrome, type 2 2 0 0 0 0 2
Nephrotic syndrome, type 9 1 0 1 0 0 2
Netherton syndrome 2 0 0 0 0 2
Neural tube defect 0 0 0 0 2 2
Neuroblastoma, susceptibility to, 3 0 0 0 2 0 2
Neurodegeneration with brain iron accumulation 7 1 0 1 0 0 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 2 0 0 0 2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 1 0 0 2
Neurodevelopmental disorder with dystonia and seizures 1 0 1 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 0 1 0 2
Neurodevelopmental disorder with microcephaly and dysmorphic facies 1 1 0 0 0 2
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2 0 0 0 0 2
Neurodevelopmental disorder with severe motor impairment and absent language 2 0 0 0 0 2
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 2 0 0 0 0 2
Neuronal ceroid lipofuscinosis 1 1 0 1 0 0 2
Neuronal ceroid lipofuscinosis 3 2 0 0 0 0 2
Neuronal ceroid lipofuscinosis 8 0 2 0 0 0 2
Neuronopathy, distal hereditary motor, type 5A 2 0 0 0 0 2
Neuropathy, hereditary sensory and autonomic, type 1A 0 1 0 1 0 2
Niemann-Pick disease, type A 0 2 0 0 0 2
Nystagmus 1, congenital, X-linked 1 0 0 0 1 2
Obesity 1 0 1 0 0 2
Obesity due to pro-opiomelanocortin deficiency 0 0 1 0 1 2
Oculotrichoanal syndrome 0 0 0 0 2 2
Osteogenesis imperfecta type 11 1 0 1 0 0 2
Osteogenesis imperfecta type 15 2 0 0 0 0 2
Osteogenesis imperfecta type 5 1 0 0 0 1 2
Otitis media, susceptibility to 0 0 1 0 1 2
Otofaciocervical syndrome 1 0 0 1 0 1 2
Parathyroid carcinoma 1 0 1 0 0 2
Parietal foramina 1 0 0 0 0 2 2
Paroxysmal nocturnal hemoglobinuria 1 1 1 0 0 0 2
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 2 0 0 0 0 2
Periventricular heterotopia with microcephaly, autosomal recessive 2 0 0 0 0 2
Permanent neonatal diabetes mellitus 1 0 0 0 1 2
Peroxisome biogenesis disorder 6A (Zellweger) 2 0 0 0 0 2
Peroxisome biogenesis disorder type 3B 0 1 0 0 1 2
Perrault syndrome 1 2 0 0 0 0 2
Phelan-McDermid syndrome 0 2 0 0 0 2
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 0 0 0 1 2
Pick disease 2 0 0 0 0 2
Plasminogen deficiency, type I 1 0 0 0 1 2
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 2 0 0 0 0 2
Polycystic liver disease 1 0 1 1 0 0 2
Prader-Willi syndrome 2 0 0 0 0 2
Primary ciliary dyskinesia 3 1 0 1 0 0 2
Primary ciliary dyskinesia 7 2 0 0 0 0 2
Primary coenzyme Q10 deficiency 8 2 0 0 0 0 2
Primary failure of tooth eruption 2 0 0 0 0 2
Progressive myoclonic epilepsy type 3 2 0 0 0 0 2
Progressive myoclonic epilepsy type 7 1 1 0 0 0 2
Prostate cancer, hereditary, 2 2 0 0 0 0 2
Pseudohypoparathyroidism type I A 2 0 0 0 0 2
Pyknodysostosis 1 1 0 0 0 2
Pyruvate dehydrogenase E3 deficiency 1 0 0 0 1 2
Pyruvate kinase hyperactivity 1 1 0 0 0 2
Rajab interstitial lung disease with brain calcifications 1 2 0 0 0 0 2
Rajab interstitial lung disease with brain calcifications 2 2 0 0 0 0 2
Rare genetic deafness 0 0 0 0 2 2
Recessive dystrophic epidermolysis bullosa 2 0 0 0 0 2
Renal hypodysplasia/aplasia 1 1 0 1 0 0 2
Renal tubular dysgenesis of genetic origin 1 1 0 0 0 2
Retinitis pigmentosa 13 0 2 0 0 0 2
Retinitis pigmentosa 54 0 0 0 1 1 2
Retinitis pigmentosa 9 0 0 0 0 2 2
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 1 1 0 2
Rothmund-Thomson syndrome type 2 1 1 0 0 0 2
SHORT syndrome 1 1 0 0 0 2
SHOX-related short stature 0 0 2 0 0 2
SMARCB1-related schwannomatosis 2 0 0 0 0 2
Saldino-Mainzer syndrome 1 0 0 0 1 2
Sandhoff disease 0 0 0 1 1 2
Sarcotubular myopathy 1 0 0 0 1 2
Seizures, benign familial neonatal, 2 1 0 0 0 1 2
Septo-optic dysplasia sequence 0 0 0 2 0 2
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 0 0 2 0 0 2
Simpson-Golabi-Behmel syndrome type 2 1 0 1 0 0 2
Snijders Blok-Campeau syndrome 2 0 0 0 0 2
Somatotroph adenoma 0 0 1 1 0 2
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 1 0 0 2
Spermatogenic failure 28 2 0 0 0 0 2
Spinal muscular atrophy with congenital bone fractures 2 1 0 0 0 1 2
Spinocerebellar ataxia type 13 0 0 1 1 0 2
Sponastrime dysplasia 2 0 0 0 0 2
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 1 0 0 1 2
Spondyloepimetaphyseal dysplasia, PAPSS2 type 2 0 0 0 0 2
Sucrase-isomaltase deficiency 1 0 1 0 0 2
Syndromic microphthalmia type 5 0 0 1 1 0 2
Telangiectasia, hereditary hemorrhagic, type 1 0 0 1 0 1 2
Telangiectasia, hereditary hemorrhagic, type 2 0 0 0 0 2 2
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 1 0 1 2
Thrombophilia due to thrombin defect 1 0 1 0 0 2
Tibial muscular dystrophy 2 0 0 0 0 2
Tietz syndrome 1 1 0 0 0 2
Trichohepatoenteric syndrome 1 2 0 0 0 0 2
Trimethylaminuria 0 0 0 2 0 2
UDPglucose-4-epimerase deficiency 0 1 0 1 0 2
Uncombable hair syndrome 1 2 0 0 0 0 2
Usher syndrome type 1D 1 1 0 0 0 2
Uveal coloboma-cleft lip and palate-intellectual disability 1 0 0 1 0 2
Waardenburg syndrome type 1 1 1 0 0 0 2
Waardenburg syndrome type 4B 0 0 0 2 0 2
Webb-Dattani syndrome 0 1 1 0 0 2
Weiss-Kruszka syndrome 1 0 1 0 0 2
Winchester syndrome 0 0 2 0 0 2
Woodhouse-Sakati syndrome 0 0 0 0 2 2
X-linked intellectual disability Cabezas type 1 0 1 0 0 2
X-linked intellectual disability-cerebellar hypoplasia syndrome 2 0 0 0 0 2
X-linked lymphoproliferative disease due to SH2D1A deficiency 2 0 0 0 0 2
Xanthinuria type II 0 0 0 0 2 2
Xeroderma pigmentosum variant type 1 0 0 1 0 2
3-Methylglutaconic aciduria type 2 0 0 0 0 1 1
3-Methylglutaconic aciduria type 3 0 0 1 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 0 1
3-methylglutaconic aciduria, type VIIB 1 0 0 0 0 1
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 0 0 0 0 1 1
46,XY sex reversal 7 1 0 0 0 0 1
ALDH18A1-related de Barsy syndrome 1 0 0 0 0 1
ALG6-congenital disorder of glycosylation 1C 0 0 0 1 0 1
ALG9 congenital disorder of glycosylation 0 0 0 0 1 1
Abdominal obesity-metabolic syndrome 4 1 0 0 0 0 1
Acrocallosal syndrome 0 0 0 0 1 1
Acrodermatitis continua suppurativa of Hallopeau 1 0 0 0 0 1
Acrofacial dysostosis Cincinnati type 0 0 0 1 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 0 1 0 0 1
Acute lymphoid leukemia 1 0 0 0 0 1
Adams-Oliver syndrome 1 0 0 0 1 0 1
Age related macular degeneration 13 1 0 0 0 0 1
Aicardi-Goutieres syndrome 1 0 1 0 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 1
Aicardi-Goutieres syndrome 4 0 1 0 0 0 1
Aicardi-Goutieres syndrome 5 0 0 0 0 1 1
Alcohol dependence 1 0 0 0 0 1
Alkaptonuria 1 0 0 0 0 1
Alopecia universalis congenita 1 0 0 0 0 1
Alport syndrome 0 0 1 0 0 1
Alport syndrome 3b, autosomal recessive 1 0 0 0 0 1
Alternating hemiplegia of childhood 1 1 0 0 0 0 1
Alzheimer disease 3 1 0 0 0 0 1
Alzheimer disease 4 0 0 0 0 1 1
Alzheimer disease 9 0 0 1 0 0 1
Amelogenesis imperfecta type 1A 0 1 0 0 0 1
Amelogenesis imperfecta, hypocalcification type 0 0 1 0 0 1
Amelogenesis imperfecta, type 3C 1 0 0 0 0 1
Amyloidosis, primary localized cutaneous, 1 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 23 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 5 0 1 0 0 0 1
Analbuminemia 0 0 1 0 0 1
Anaphylotoxin inactivator deficiency 0 0 0 0 1 1
Anterior segment dysgenesis 1 0 0 0 0 1 1
Anterior segment dysgenesis 3 1 0 0 0 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 0 0 1 1
Arginine:glycine amidinotransferase deficiency 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia 13 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 5 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 14 0 1 0 0 0 1
Arts syndrome 0 1 0 0 0 1
Aspartylglucosaminuria 0 0 0 0 1 1
Asphyxiating thoracic dystrophy 2 0 1 0 0 0 1
Ataxia - oculomotor apraxia type 4 1 0 0 0 0 1
Ataxia with oculomotor apraxia type 3 0 0 1 0 0 1
Ataxia-pancytopenia syndrome 1 0 0 0 0 1
Ataxia-telangiectasia-like disorder 2 0 1 0 0 0 1
Atelosteogenesis type I 1 0 0 0 0 1
Atransferrinemia 0 0 0 1 0 1
Atrial fibrillation, familial, 7 0 0 1 0 0 1
Atrial septal defect 4 0 0 1 0 0 1
Atrioventricular septal defect 4 0 0 0 0 1 1
Atrioventricular septal defect 5 0 0 0 0 1 1
Atrophia bulborum hereditaria 1 0 0 0 0 1
Atypical hemolytic-uremic syndrome with B factor anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 0 0 0 1 1
Auditory neuropathy-optic atrophy syndrome 0 0 1 0 0 1
Auriculocondylar syndrome 2 0 0 0 0 1 1
Autism, susceptibility to, 17 0 0 1 0 0 1
Autism, susceptibility to, X-linked 2 0 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 2A 1 0 0 0 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 1 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 1 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1G 0 0 0 1 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3B 1 0 0 0 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 0 0 1
Autosomal dominant sensory ataxia 1 0 0 1 0 0 1
Autosomal dominant striatal neurodegeneration type 1 0 0 0 1 0 1
Autosomal recessive congenital ichthyosis 4B 0 0 0 0 1 1
Autosomal recessive distal spinal muscular atrophy 2 0 0 0 0 1 1
Autosomal recessive juvenile Parkinson disease 2 0 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 0 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 0 1
Autosomal recessive multiple pterygium syndrome 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 16 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 22 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 39 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 63 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 66 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 7 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 0 0 0 0 1 1
Autosomal recessive omodysplasia 0 0 0 0 1 1
Autosomal recessive osteopetrosis 1 1 0 0 0 0 1
Autosomal recessive osteopetrosis 5 1 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 11 0 0 0 1 0 1
Autosomal recessive spinocerebellar ataxia 13 0 0 0 0 1 1
Autosomal recessive spinocerebellar ataxia 16 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 17 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 20 1 0 0 0 0 1
Axenfeld-Rieger syndrome type 1 0 0 0 0 1 1
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 0 1 0 0 1
B4GALT1-congenital disorder of glycosylation 0 0 1 0 0 1
BLOOD GROUP--DIEGO SYSTEM 0 1 0 0 0 1
Bamforth-Lazarus syndrome 0 0 0 1 0 1
Baralle-Macken syndrome 0 0 1 0 0 1
Bardet-Biedl syndrome 12 0 0 1 0 0 1
Bardet-Biedl syndrome 13 0 0 1 0 0 1
Bardet-Biedl syndrome 4 0 0 0 0 1 1
Bardet-Biedl syndrome 5 1 0 0 0 0 1
Bartter disease type 4A 1 0 0 0 0 1
Bernard Soulier syndrome 0 0 0 1 0 1
Bernard-Soulier syndrome, type A2, autosomal dominant 1 0 0 0 0 1
Beta-thalassemia HBB/LCRB 0 0 0 0 1 1
Birk-Barel syndrome 0 0 1 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 0 0 1
Bleeding disorder, platelet-type, 13, susceptibility to 0 0 0 0 1 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 1 0 0 0 0 1
Bone marrow failure syndrome 3 1 0 0 0 0 1
Bone mineral density quantitative trait locus 18 0 1 0 0 0 1
Brachyolmia-amelogenesis imperfecta syndrome 0 1 0 0 0 1
Branchiooculofacial syndrome 0 0 0 1 0 1
Branchiootorenal syndrome 2 0 0 1 0 0 1
Breasts and/or nipples, aplasia or hypoplasia of, 2 0 0 1 0 0 1
Bronchiectasis with or without elevated sweat chloride 1 0 0 0 0 1 1
Brown-Vialetto-van Laere syndrome 1 0 0 0 1 0 1
Buratti-Harel syndrome 0 1 0 0 0 1
C1Q deficiency 1 0 0 0 0 1
CBL-related disorder 0 0 0 1 0 1
CFHR5 deficiency 0 0 0 0 1 1
COG1 congenital disorder of glycosylation 1 0 0 0 0 1
COG5-congenital disorder of glycosylation 0 0 0 0 1 1
CTR9-related neurodevelopmental disorder 0 0 0 0 1 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 1 0 0 0 1
Camptomelic dysplasia 0 0 0 0 1 1
Candidiasis, familial, 9 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 0 1 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 1 0 0 0 1
Cardiac-urogenital syndrome 0 0 1 0 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 0 0 1 0 1
Cardiomyopathy, familial restrictive, 1 1 0 0 0 0 1
Cardiospondylocarpofacial syndrome 1 0 0 0 0 1
Carney complex, type 1 0 0 0 1 0 1
Carnitine palmitoyl transferase 1A deficiency 0 1 0 0 0 1
Cataract 19 multiple types 1 0 0 0 0 1
Cataract 2, multiple types 0 0 1 0 0 1
Cataract 21 multiple types 0 0 0 1 0 1
Cataract 39 multiple types 0 0 0 0 1 1
Cataract 41 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 0 0 1 1
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0 1 0 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 1 0 0 1
Cerebral arteriovenous malformation 0 0 1 0 0 1
Cerebral cavernous malformation 0 0 0 0 1 1
Ceroid lipofuscinosis, neuronal, 6A 1 0 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2T 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 1D 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2D 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4F 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4G 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4H 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type IA 1 0 0 0 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 1 0 0 0 1
Child syndrome 0 0 0 0 1 1
Childhood apraxia of speech 0 0 0 1 0 1
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 8 0 1 0 0 0 1
Chondrocalcinosis 2 1 0 0 0 0 1
Chopra-Amiel-Gordon syndrome 0 0 1 0 0 1
Chromosome 22q11.2 deletion syndrome, distal 1 0 0 0 0 1
Chronic and progressive ataxia 1 0 0 0 0 1
Chuvash polycythemia 0 0 1 0 0 1
Cleft lip/palate-ectodermal dysplasia syndrome 0 0 0 0 1 1
Coffin-Siris syndrome 10 1 0 0 0 0 1
Coffin-Siris syndrome 12 1 0 0 0 0 1
Cohen-Gibson syndrome 0 1 0 0 0 1
Cole-Carpenter syndrome 2 0 0 0 0 1 1
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 0 0 0 1 1
Combined immunodeficiency due to moesin deficiency 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 14 0 0 0 1 0 1
Combined oxidative phosphorylation deficiency 35 1 0 0 0 0 1
Combined oxidative phosphorylation deficiency 43 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 55 0 0 1 0 0 1
Complement component C1s deficiency 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 2 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 0 1 0 0 1
Compton-North congenital myopathy 0 0 0 0 1 1
Cone-rod dystrophy 16 0 0 1 0 0 1
Cone-rod dystrophy 22 1 0 0 0 0 1
Cone-rod dystrophy 7 0 0 1 0 0 1
Cone-rod synaptic disorder, congenital nonprogressive 0 0 0 0 1 1
Congenital adrenal hypoplasia, X-linked 0 0 0 0 1 1
Congenital anomalies of kidney and urinary tract 1 0 0 0 0 1 1
Congenital anomalies of kidney and urinary tract 2 0 0 0 0 1 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 0 0 0 0 1
Congenital bile acid synthesis defect 2 0 1 0 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 0 0 1 1
Congenital central hypoventilation 1 0 0 0 0 1
Congenital disorder of glycosylation, type IAA 0 1 0 0 0 1
Congenital factor VII deficiency 0 0 1 0 0 1
Congenital heart defects and ectodermal dysplasia 0 1 0 0 0 1
Congenital heart defects, multiple types, 2 1 0 0 0 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 0 0 0 1 1
Congenital myasthenic syndrome 11 1 0 0 0 0 1
Congenital myasthenic syndrome 2A 0 0 0 0 1 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 1
Congenital nongoitrous hypothyroidism 6 0 0 1 0 0 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 0 0 0 1 1
Congenital stationary night blindness 1C 0 0 0 1 0 1
Congenital stationary night blindness 1D 1 0 0 0 0 1
Congenital stationary night blindness autosomal dominant 2 1 0 0 0 0 1
Corneal dystrophy, posterior polymorphous, 4 0 0 0 0 1 1
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 0 0 1 0 0 1
Coronary heart disease, susceptibility to, 5 0 0 0 0 1 1
Corticosterone methyloxidase type 2 deficiency 0 0 0 0 1 1
Cortisone reductase deficiency 1 0 0 0 0 1 1
Cortisone reductase deficiency 2 0 0 0 0 1 1
Coxopodopatellar syndrome 0 1 0 0 0 1
Craniofacial-deafness-hand syndrome 1 0 0 0 0 1
Craniofrontonasal syndrome 0 1 0 0 0 1
Craniosynostosis 7 1 0 0 0 0 1
Currarino triad 1 0 0 0 0 1
Curry-Hall syndrome 0 0 0 0 1 1
Curry-Jones syndrome 0 0 1 0 0 1
Cutis laxa, autosomal dominant 1 0 1 0 0 0 1
Cutis laxa, autosomal recessive, type 1B 1 0 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 1 0 0 0 1
DNA ligase IV deficiency 1 0 0 0 0 1
DOORS syndrome 0 1 0 0 0 1
De Lange syndrome 1 0 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 0 0 1 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 0 0 1
Deficiency of adenosine deaminase 2 1 0 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 0 0 0 1 1
Deficiency of steroid 17-alpha-monooxygenase 1 0 0 0 0 1
Dentatorubral-pallidoluysian atrophy 0 1 0 0 0 1
Dentinogenesis imperfecta type 2 0 0 0 0 1 1
Desbuquois dysplasia 1 1 0 0 0 0 1
Developmental and epileptic encephalopathy 109 0 0 1 0 0 1
Developmental and epileptic encephalopathy 92 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 19 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 33 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 34 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 37 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 48 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 59 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 68 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 73 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 76 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 79 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 8 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 87 1 0 0 0 0 1
Developmental delay and seizures with or without movement abnormalities 1 0 0 0 0 1
Developmental delay with dysmorphic facies and dental anomalies 1 0 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 1 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 0 0 1
Diamond-Blackfan anemia 0 0 1 0 0 1
Diamond-Blackfan anemia 6 1 0 0 0 0 1
Diaphyseal medullary stenosis-bone malignancy syndrome 0 0 0 0 1 1
Dias-Logan syndrome 0 0 0 0 1 1
Diets-Jongmans syndrome 0 1 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 0 1 0 1
Dilated cardiomyopathy 1C 1 0 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 0 1
Dilated cardiomyopathy 1JJ 0 0 0 0 1 1
Dilated cardiomyopathy 1KK 0 0 0 0 1 1
Dilated cardiomyopathy 1R 0 0 1 0 0 1
Distal 16p11.2 microdeletion syndrome 1 0 0 0 0 1
Donnai-Barrow syndrome 0 0 0 0 1 1
Down syndrome 1 0 0 0 0 1
Duane-radial ray syndrome 0 0 0 0 1 1
Dubin-Johnson syndrome 0 0 0 0 1 1
Dyskeratosis congenita, autosomal dominant 6 0 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive 3 0 0 0 0 1 1
Dystonia 25 0 0 1 0 0 1
Dystonia 28, childhood-onset 1 0 0 0 0 1
Dystonia 30 1 0 0 0 0 1
EEM syndrome 0 0 0 0 1 1
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 0 0 1 0 0 1
Ectodermal dysplasia 4, hair/nail type 0 0 0 0 1 1
Ectodermal dysplasia and immunodeficiency 1 0 0 1 0 0 1
Ehlers-Danlos syndrome progeroid type 0 0 0 0 1 1
Ehlers-Danlos syndrome, spondylocheirodysplastic type 0 0 0 0 1 1
Eichsfeld type congenital muscular dystrophy 0 0 0 0 1 1
Ellis-van Creveld syndrome 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 0 1 1
Enhanced S-cone syndrome 1 0 0 0 0 1
Enterokinase deficiency 0 0 1 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 0 0 0 1 1
Epidermolytic ichthyosis 1 0 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 0 0 1 1
Epilepsy, childhood absence, susceptibility to, 1 0 0 0 0 1 1
Epilepsy, familial adult myoclonic, 5 0 0 0 0 1 1
Epilepsy, familial focal, with variable foci 2 1 0 0 0 0 1
Epilepsy, familial focal, with variable foci 4 1 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13 1 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 0 0 0 1
Epilepsy, progressive myoclonic, 1B 0 0 1 0 0 1
Epsilon-trimethyllysine hydroxylase deficiency 1 0 0 0 0 1
Erythrocytosis, familial, 4 0 0 0 1 0 1
Erythrokeratodermia variabilis et progressiva 2 1 0 0 0 0 1
FG syndrome 4 1 0 0 0 0 1
Factor XII deficiency disease 0 0 0 0 1 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 0 1
Familial acute necrotizing encephalopathy 1 0 0 0 0 1
Familial apolipoprotein C-II deficiency 1 0 0 0 0 1
Familial chronic mucocutaneous candidiasis 0 0 0 0 1 1
Familial cold autoinflammatory syndrome 2 0 0 0 0 1 1
Familial encephalopathy with neuroserpin inclusion bodies 1 0 0 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 1
Familial hypobetalipoproteinemia 1 1 0 0 0 0 1
Familial meningioma 0 0 1 0 0 1
Familial renal glucosuria 0 1 0 0 0 1
Fanconi-Bickel syndrome 0 0 0 0 1 1
Febrile seizures, familial, 11 0 0 1 0 0 1
Febrile seizures, familial, 4 1 0 0 0 0 1
Febrile seizures, familial, 8 1 0 0 0 0 1
Feingold syndrome type 1 1 0 0 0 0 1
Focal segmental glomerulosclerosis 4, susceptibility to 0 1 0 0 0 1
Focal segmental glomerulosclerosis 8 1 0 0 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 1 0 0 0 0 1
Fowler syndrome 0 0 1 0 0 1
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 0 0 0 1 0 1
Fundus dystrophy, pseudoinflammatory, recessive form 0 0 0 0 1 1
GM3 synthase deficiency 0 0 0 0 1 1
GNPTG-mucolipidosis 1 0 0 0 0 1
Galactosemia 4 1 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 1 0 0 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 1 0 0 0 0 1
Glaucoma 1, open angle, A 1 0 0 0 0 1
Glaucoma 3A 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 1
Global developmental delay with speech and behavioral abnormalities 1 0 0 0 0 1
Glomuvenous malformation 0 1 0 0 0 1
Glucocorticoid resistance 0 0 0 0 1 1
Glutamate formiminotransferase deficiency 1 0 0 0 0 1
Glycine encephalopathy 1 0 1 0 0 0 1
Glycogen storage disease IXb 1 0 0 0 0 1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 1 0 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 0 0 0 1 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 0 0 0 1 1
Griscelli syndrome type 1 0 0 0 0 1 1
Growth delay due to insulin-like growth factor type 1 deficiency 0 0 0 0 1 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 1 0 0 0 0 1
Harel-Yoon syndrome 1 0 0 0 0 1
Hb SS disease 1 0 0 0 0 1
Hecht syndrome 0 0 0 1 0 1
Helicoid peripapillary chorioretinal degeneration 0 0 0 0 1 1
Hemochromatosis type 3 1 0 0 0 0 1
Hemochromatosis type 4 1 0 0 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 0 0 1 1
Heparin cofactor II deficiency 0 0 0 0 1 1
Hereditary antithrombin deficiency 1 0 0 0 0 1
Hereditary coproporphyria 1 0 0 0 0 1
Hereditary factor IX deficiency disease 0 0 0 0 1 1
Hereditary hyperferritinemia with congenital cataracts 0 0 0 0 1 1
Hereditary leiomyomatosis and renal cell cancer 1 0 0 0 0 1
Hereditary motor and sensory neuropathy, Okinawa type 1 0 0 0 0 1
Hereditary nonpolyposis colorectal neoplasms 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type 7 0 1 0 0 0 1
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 1 0 0 1
Hereditary spastic paraplegia 33 0 0 0 0 1 1
Hereditary spastic paraplegia 48 0 0 0 0 1 1
Hereditary spastic paraplegia 50 1 0 0 0 0 1
Hereditary spastic paraplegia 51 0 0 0 0 1 1
Hereditary spastic paraplegia 52 0 1 0 0 0 1
Hereditary spastic paraplegia 56 1 0 0 0 0 1
Hereditary spherocytosis type 2 0 0 1 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 0 1 0 1
Heterotaxy, visceral, 1, X-linked 0 0 0 1 0 1
Heterotaxy, visceral, 4, autosomal 0 0 0 1 0 1
Heterotopia, periventricular, X-linked dominant 0 0 0 0 1 1
Hidrotic ectodermal dysplasia syndrome 0 0 0 0 1 1
Hirschsprung disease, susceptibility to, 3 0 0 0 0 1 1
Holoprosencephaly 2 1 0 0 0 0 1
Holoprosencephaly 9 1 0 0 0 0 1
Hyaline fibromatosis syndrome 0 0 0 0 1 1
Hydatidiform mole, recurrent, 1 0 0 1 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 0 1 0 0 1
Hydrolethalus syndrome 1 0 0 0 0 1 1
Hydroxykynureninuria 0 1 0 0 0 1
Hyper-IgM syndrome type 2 0 1 0 0 0 1
Hyperekplexia 1 0 0 0 1 0 1
Hyperekplexia 2 1 0 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 1 0 0 0 1
Hyperlipoproteinemia, type 1D 1 0 0 0 0 1
Hyperparathyroidism, transient neonatal 1 0 0 0 0 1
Hyperphenylalaninemia due to DNAJC12 deficiency 0 0 1 0 0 1
Hyperphosphatasemia with bone disease 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 2 0 1 0 0 0 1
Hypertrophic cardiomyopathy 17 1 0 0 0 0 1
Hypertrophic cardiomyopathy 18 0 0 1 0 0 1
Hypertrophic cardiomyopathy 25 0 0 0 1 0 1
Hypertrophic cardiomyopathy 8 1 0 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 0 1 0 0 1
Hyperuricemic nephropathy, familial juvenile type 4 1 0 0 0 0 1
Hypogonadotropic hypogonadism 13 with or without anosmia 0 0 0 1 0 1
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 0 0 1 1
Hypogonadotropic hypogonadism 19 with or without anosmia 0 0 0 0 1 1
Hypomagnesemia, seizures, and intellectual disability 1 0 0 0 1 0 1
Hypomyelinating leukodystrophy 3 1 0 0 0 0 1
Hypomyelinating leukodystrophy 6 1 0 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 0 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 2 0 0 0 0 1 1
Hypophosphatemic rickets, autosomal recessive, 1 0 0 0 0 1 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 0 0 0 1 1
Hypotrichosis 8 1 0 0 0 0 1
Ichthyosis bullosa of Siemens 1 0 0 0 0 1
Idiopathic generalized epilepsy 0 0 0 0 1 1
Immunodeficiency 126, susceptibility to 0 0 1 0 0 1
Immunodeficiency 14 0 0 1 0 0 1
Immunodeficiency 45 0 0 0 0 1 1
Immunodeficiency 49 1 0 0 0 0 1
Immunodeficiency 57 0 0 1 0 0 1
Immunodeficiency due to CD25 deficiency 0 1 0 0 0 1
Immunodeficiency due to ficolin3 deficiency 0 0 1 0 0 1
Immunodeficiency, common variable, 10 0 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 1 0 0 0 0 1
Inborn glycerol kinase deficiency 1 0 0 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 1 0 0 0 1
Infantile liver failure syndrome 1 0 0 0 0 1 1
Inflammatory bowel disease 25 1 0 0 0 0 1
Inflammatory bowel disease 28 0 1 0 0 0 1
Inherited Creutzfeldt-Jakob disease 1 0 0 0 0 1
Inherited obesity 0 0 0 0 1 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 1 0 0 0 0 1
Intellectual developmental disorder with autism and speech delay 0 1 0 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 0 0 0 1 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 70 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 72 1 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 72 1 0 0 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 0 1
Intellectual disability, X-linked 19 1 0 0 0 0 1
Intellectual disability, X-linked 21 0 0 1 0 0 1
Intellectual disability, X-linked 50 1 0 0 0 0 1
Intellectual disability, X-linked 99 0 1 0 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 1
Intellectual disability, X-linked, with panhypopituitarism 0 0 0 1 0 1
Intellectual disability, autosomal dominant 34 0 0 0 1 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 0 1
Intellectual disability, autosomal dominant 47 1 0 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 0 1
Intellectual disability, autosomal dominant 9 0 0 1 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 0 0 1
Intellectual disability, autosomal recessive 64 1 0 0 0 0 1
Intellectual disability, autosomal recessive 7 0 0 0 1 0 1
Isolated focal cortical dysplasia type II 0 1 0 0 0 1
Isolated microphthalmia 6 0 0 0 0 1 1
Jalili syndrome 1 0 0 0 0 1
Joubert syndrome 17 1 0 0 0 0 1
Joubert syndrome 5 1 0 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 1 0 0 0 0 1
Juvenile myelomonocytic leukemia 0 1 0 0 0 1
Juvenile retinoschisis 0 0 1 0 0 1
Keratoconus 0 0 0 1 0 1
Keratoconus 1 0 0 1 0 0 1
L-2-hydroxyglutaric aciduria 0 0 0 0 1 1
LEOPARD syndrome 1 1 0 0 0 0 1
LIPE-related familial partial lipodystrophy 1 0 0 0 0 1
Lafora disease 0 1 0 0 0 1
Landsteiner-Wiener phenotype 0 1 0 0 0 1
Laron-type isolated somatotropin defect 0 0 1 0 0 1
Leber congenital amaurosis 3 1 0 0 0 0 1
Leber congenital amaurosis 6 0 0 1 0 0 1
Leber congenital amaurosis 8 1 0 0 0 0 1
Leber congenital amaurosis 9 0 1 0 0 0 1
Left ventricular noncompaction 8 0 0 0 0 1 1
Lenz-Majewski hyperostosis syndrome 0 0 1 0 0 1
Lethal Kniest-like syndrome 0 1 0 0 0 1
Lethal congenital contracture syndrome 6 0 0 0 0 1 1
Lethal osteosclerotic bone dysplasia 0 0 0 0 1 1
Lethal tight skin contracture syndrome 1 0 0 0 0 1
Leukemia, acute lymphoblastic, susceptibility to, 3 0 0 0 1 0 1
Leukodystrophy, hypomyelinating, 17 1 0 0 0 0 1
Li-Fraumeni syndrome 1 0 0 0 1 0 1
Lissencephaly 9 with complex brainstem malformation 1 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 0 1
Loeys-Dietz syndrome 6 0 1 0 0 0 1
Long QT syndrome 0 0 1 0 0 1
Lung cancer 0 0 0 1 0 1
Lymphatic malformation 13 0 0 1 0 0 1
MIRAGE syndrome 0 0 1 0 0 1
MPI-congenital disorder of glycosylation 0 0 1 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 1 0 0 1
Macular degeneration, age-related, 3 0 0 1 0 0 1
Malignant neoplastic disease 0 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 1
Matthew-Wood syndrome 0 0 0 0 1 1
Medulloblastoma 0 0 0 0 1 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 0 0 1 1
Meier-Gorlin syndrome 2 0 0 0 0 1 1
Meier-Gorlin syndrome 5 0 0 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 1 1 0 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1 0 0 0 0 1
Metaphyseal chondrodysplasia, Spahr type 0 0 0 1 0 1
Methylmalonic acidemia due to transcobalamin receptor defect 0 0 0 0 1 1
Methylmalonic aciduria and homocystinuria type cblD 0 0 1 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 1 0 0 0 0 1
Microcephaly 16, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly 24, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly 4, primary, autosomal recessive 0 0 0 0 1 1
Microcephaly and chorioretinopathy 1 0 0 0 0 1 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 0 0 0 1
Microcornea-myopic chorioretinal atrophy 0 0 0 0 1 1
Migraine, familial hemiplegic, 2 0 0 1 0 0 1
Miller Dieker syndrome 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 1 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 11 0 0 0 1 0 1
Mitochondrial DNA depletion syndrome 19 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 1 0 0 0 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 12 0 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 17 0 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 21 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 23 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 6 0 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 9 0 0 0 0 1 1
Mitochondrial complex III deficiency nuclear type 2 1 0 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 12 1 0 0 0 0 1
Mitochondrial trifunctional protein deficiency 1 0 0 1 0 0 1
Monilethrix 1 0 0 0 0 1
Mosaic variegated aneuploidy syndrome 2 0 0 0 0 1 1
Mucopolysaccharidosis, MPS-IV-B 0 0 1 0 0 1
Multicentric carpo-tarsal osteolysis with or without nephropathy 1 0 0 0 0 1
Multicentric osteolysis nodulosis arthropathy spectrum 1 0 0 0 0 1
Multiple benign circumferential skin creases on limbs 1 0 1 0 0 0 1
Multiple epiphyseal dysplasia type 4 0 0 0 1 0 1
Multiple epiphyseal dysplasia type 5 0 0 1 0 0 1
Multiple sulfatase deficiency 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 0 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 1 0 0 0 1
Myasthenic syndrome, congenital, 22 1 0 0 0 0 1
Myelodysplastic syndrome 1 0 0 0 0 1
Myeloproliferative disorder, chronic, with eosinophilia 1 0 0 0 0 1
Myofibromatosis, infantile, 1 0 0 0 1 0 1
Myoglobinuria, acute recurrent, autosomal recessive 0 0 1 0 0 1
Myopathy, distal, 5 1 0 0 0 0 1
Myostatin-related muscle hypertrophy 0 0 0 0 1 1
Nail-patella syndrome 0 0 0 0 1 1
Nance-Horan syndrome 0 1 0 0 0 1
Nemaline myopathy 9 0 0 0 0 1 1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 1 0 0 0 0 1
Neonatal-onset encephalopathy with rigidity and seizures 1 0 0 0 0 1
Nephrotic syndrome, type 11 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 0 0 1 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 0 1 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia and brain abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia and gross motor and speech delay 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 1 0 0 0 0