ClinVar Miner

Variants from New York Genome Center

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

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

pathogenic likely pathogenic uncertain significance likely benign benign total
275 350 4105 10 0 4735

Gene and significance breakdown #

Total genes and gene combinations: 1756
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TTN 2 8 86 0 96
APOB 4 1 51 0 56
VPS13B 1 3 39 0 43
ALMS1 0 1 38 0 39
KMT2D 0 0 29 0 29
SETD2 1 0 26 0 27
KMT2C 0 0 26 0 26
ABCC8 2 0 23 0 25
ANKRD11 2 0 22 0 24
CEP290 1 1 22 0 24
LDLR 7 5 10 0 22
SZT2 0 2 19 0 21
CIC 0 0 20 0 20
WFS1 1 2 19 0 20
CACNA1H 0 0 18 0 18
MAGEL2 0 1 17 0 18
NBEA 0 1 17 0 18
ABCA1 0 2 15 0 17
CACNA1A 0 0 17 0 17
DYNC1H1 0 1 16 0 17
LRP2 0 0 17 0 17
RELN 0 0 17 0 17
GNAS 1 1 14 0 16
RYR3 0 0 16 0 16
ANK3 0 0 15 0 15
COL4A2 0 0 15 0 15
CREBBP 0 1 14 0 15
GLIS3 0 1 14 0 15
KMT2A 1 2 12 0 15
LMF1 0 0 15 0 15
ABCG5, DYNC2LI1 1 2 11 0 14
CACNA1E 0 0 14 0 14
MACF1 0 0 14 0 14
RAI1 0 0 14 0 14
RERE 0 0 14 0 14
SETD5 1 1 12 0 14
ABCG8 0 0 13 0 13
ANK2 0 0 13 0 13
ARID1A 1 0 12 0 13
ARID1B 1 1 11 0 13
ASH1L 0 0 13 0 13
KCNMA1 0 0 13 0 13
KCNQ1 3 3 7 0 13
KCNT1 1 0 12 0 13
NSD1 0 1 12 0 13
RIC3, TUB 0 1 12 0 13
SCN8A 1 4 8 0 13
SETD1A 0 0 13 0 13
SETD1B 1 0 12 0 13
SYNGAP1 1 0 12 0 13
TRIO 0 0 13 0 13
WDFY3 0 0 13 0 13
ADGRV1 0 0 12 0 12
GRIN2A 0 1 11 0 12
HIVEP2 0 0 12 0 12
KIF1A 0 1 11 0 12
LMNA 2 1 9 0 12
MAP1B 0 1 11 0 12
AUTS2 0 1 10 0 11
CACNA1C 0 0 11 0 11
CHD3 0 2 9 0 11
DEPDC5 0 2 9 0 11
DSP 1 2 8 0 11
KIDINS220 0 0 11 0 11
LIPC 0 0 11 0 11
MKS1 0 0 11 0 11
ZMIZ1 0 0 11 0 11
ASXL3 1 1 8 0 10
CAMTA1 0 1 9 0 10
CHD7 3 0 7 0 10
CNTNAP2 0 1 9 0 10
GRIN2B 1 0 8 1 10
IRF2BPL 0 2 8 0 10
JMJD1C 0 0 10 0 10
KDM6B 1 0 9 0 10
MED13L 1 0 9 0 10
NALCN 1 2 7 0 10
PRR12 1 0 9 0 10
TCF20 1 0 9 0 10
TET3 0 0 10 0 10
TSC2 0 0 10 0 10
BBS9 0 3 6 0 9
FLNA 0 0 9 0 9
GLI2 0 0 9 0 9
HUWE1 0 1 7 1 9
IFT172 0 0 9 0 9
KCNH2 0 1 8 0 9
LOC102724058, SCN1A 1 1 7 0 9
MTTP 0 0 9 0 9
MYBPC3 5 2 2 0 9
NIPBL 0 2 7 0 9
PCSK9 0 0 9 0 9
PLXNA1 0 1 8 0 9
RORA 0 0 8 1 9
SCN5A 1 1 7 0 9
SETBP1 0 0 9 0 9
SIN3A 0 0 9 0 9
AGPAT2 0 0 8 0 8
ATRX 0 0 8 0 8
BRCA2 6 2 0 0 8
CACNA1B 0 0 8 0 8
DNAH5 1 2 5 0 8
DNMT3A 3 0 5 0 8
GRIN2D 0 0 8 0 8
LAMA2 0 2 6 0 8
PACS1 1 0 7 0 8
PAX4 0 0 8 0 8
SCN2A 0 0 8 0 8
SLC6A1 1 1 6 0 8
SMARCC2 0 0 8 0 8
TTC8 0 0 8 0 8
ZNF462 0 0 8 0 8
ZSWIM6 1 0 7 0 8
AFF4 0 0 7 0 7
CACNA1D 0 0 7 0 7
CACNA1G 0 0 7 0 7
CEL 0 0 7 0 7
CHD2 0 3 4 0 7
CHD8 0 1 6 0 7
FLNC 1 1 5 0 7
FOXP1 0 0 7 0 7
HBA-LCR, NPRL3 0 1 6 0 7
KCNQ2 0 0 7 0 7
KMT2B 0 1 6 0 7
LEPR 0 0 7 0 7
MC4R 1 0 6 0 7
MED13 0 0 7 0 7
MYH7 1 1 5 0 7
MYT1L 0 1 6 0 7
NEXMIF 0 0 6 1 7
NF1 3 0 4 0 7
NR0B2, NUDC 0 1 6 0 7
PHACTR1 0 0 7 0 7
PNKP 0 0 7 0 7
PRMT7 0 1 6 0 7
PTPN11 6 0 1 0 7
RHOBTB2 0 0 7 0 7
SCN3A 0 0 6 1 7
SLC5A2 0 0 7 0 7
SON 1 1 5 0 7
STAG1 0 0 7 0 7
TRIP12 0 0 7 0 7
BBS12 1 0 5 0 6
BBS4 0 1 5 0 6
BSCL2, HNRNPUL2-BSCL2 0 0 6 0 6
CBL 0 0 6 0 6
CHD1 0 0 6 0 6
CHRNB2 0 0 6 0 6
COL4A1 0 0 6 0 6
CPA6 0 0 6 0 6
CUX2 0 0 6 0 6
DEAF1 0 1 5 0 6
DHCR7 3 1 2 0 6
DHX30 0 0 6 0 6
DNAH11 0 1 5 0 6
DNHD1 0 0 6 0 6
EHMT1 0 0 6 0 6
EIF2AK3 0 0 6 0 6
EP300 0 0 6 0 6
GCK 0 1 5 0 6
HNF1A 0 0 6 0 6
IFIH1 0 1 5 0 6
ITPR1 0 0 6 0 6
KAT6B 0 0 6 0 6
KCNB1 1 1 4 0 6
KMT2E 0 0 6 0 6
KMT5B 1 0 5 0 6
LPL 1 0 5 0 6
MAPK8IP3 0 0 6 0 6
MBD5 0 0 5 1 6
MED12L 0 0 6 0 6
MKKS 0 0 6 0 6
MTOR 0 1 5 0 6
NAA15 1 1 4 0 6
NEDD4L 0 0 6 0 6
PACS2 0 0 6 0 6
PAH 3 3 0 0 6
POMC 0 0 6 0 6
PRICKLE1 0 0 6 0 6
PTF1A 0 0 6 0 6
SHANK2 0 0 6 0 6
SIM1 0 1 5 0 6
SOS1 0 0 6 0 6
SOS2 0 0 6 0 6
SOX5 0 1 5 0 6
SRCAP 0 0 6 0 6
STARD9 0 0 6 0 6
TANC2 0 1 5 0 6
USP7 0 0 6 0 6
VCL 0 0 6 0 6
ZNF407 0 0 6 0 6
AGMO 0 1 4 0 5
ALDH5A1 2 0 3 0 5
ASPM 0 0 5 0 5
BAZ2B 0 1 4 0 5
BBS1, ZDHHC24 1 0 4 0 5
BBS2 2 1 2 0 5
BBS7 0 0 5 0 5
BPTF 0 1 4 0 5
BRAT1 0 1 4 0 5
BRCA1 5 0 0 0 5
BRPF1 0 0 5 0 5
CACNA2D2 0 1 4 0 5
CAST, LOC101929710, PCSK1 0 0 5 0 5
CHRNA2 0 1 4 0 5
CLN8 0 0 5 0 5
CUX1 1 1 3 0 5
DHX34 0 0 5 0 5
DLL1 0 0 5 0 5
DNAH14 0 0 5 0 5
DOCK8 0 0 5 0 5
DYRK1B 0 0 5 0 5
FLNB 0 0 5 0 5
GABRA1 0 0 5 0 5
GABRD 0 0 5 0 5
HERC1 0 0 5 0 5
HERC2 1 1 3 0 5
HNF1B 1 0 4 0 5
KAT6A 0 0 5 0 5
KATNAL2 0 0 5 0 5
KCNQ3 1 1 3 0 5
KCNQ5 0 0 5 0 5
KDM5C 0 0 5 0 5
LAMC3 0 1 4 0 5
MAN1B1 0 0 5 0 5
MECP2 1 0 3 1 5
MYRF 1 0 4 0 5
NAGLU 0 0 5 0 5
NFASC 0 0 5 0 5
NOTCH3 0 0 5 0 5
NRXN2 0 0 5 0 5
NTRK2 0 1 4 0 5
PHF21A 0 0 5 0 5
POGZ 0 0 5 0 5
QARS1 0 1 4 0 5
SCN1A, SCN9A 1 0 4 0 5
SLC12A5 0 0 5 0 5
SMARCA2 0 0 5 0 5
SMARCA4 0 0 5 0 5
SPTAN1 1 0 4 0 5
TBX1 0 1 4 0 5
TCF4 0 1 4 0 5
TNNT2 1 2 2 0 5
TNRC6B 0 0 5 0 5
TRAPPC9 0 0 5 0 5
TRRAP 0 0 5 0 5
UBR4 0 0 5 0 5
WDR81 0 1 4 0 5
ABCA1, NIPSNAP3B 0 0 4 0 4
ABCG5 0 0 4 0 4
ADRA2B 0 0 4 0 4
AFG2A 0 0 4 0 4
AHDC1 0 0 4 0 4
ANGPTL3, DOCK7 0 0 4 0 4
AP3B2, CPEB1 0 0 4 0 4
APOE 0 2 2 0 4
ASTN2, TRIM32 0 0 4 0 4
ASXL2 0 0 4 0 4
ATAD3A 0 1 3 0 4
ATP6V1A 0 0 4 0 4
BBS1 0 0 4 0 4
BBS5 0 0 4 0 4
BICRA 0 0 4 0 4
CAV1 0 0 4 0 4
CDC42BPB 0 0 4 0 4
CDH2 0 0 4 0 4
CDK13 0 0 4 0 4
CHD5 0 0 4 0 4
CHRNA4 0 0 4 0 4
CLTC 0 1 3 0 4
COL18A1 0 1 3 0 4
CTNNA3 0 0 4 0 4
CUBN 0 0 4 0 4
DENND5A 0 0 4 0 4
DES 0 0 4 0 4
DHX37 0 1 3 0 4
DOCK7 0 0 4 0 4
DPP6 0 0 4 0 4
EFHC1 0 0 4 0 4
EMC1 0 0 4 0 4
EMX2, EMX2OS 0 0 4 0 4
EPG5 0 1 3 0 4
FBN1 0 1 3 0 4
FGF12 0 0 4 0 4
GABRB3 0 0 4 0 4
GLDC 0 1 3 0 4
GLI3 0 0 4 0 4
GNAO1 0 1 3 0 4
GPIHBP1 0 1 3 0 4
HCN1 0 0 4 0 4
HCN4 0 0 4 0 4
HK1 0 0 4 0 4
HNF4A 0 0 4 0 4
IFT74 0 0 4 0 4
INTS1 0 1 3 0 4
JARID2 0 0 4 0 4
KCNT2 0 0 4 0 4
KIF16B 0 0 4 0 4
KRIT1 0 0 4 0 4
LINS1 0 2 2 0 4
LIPA 0 0 4 0 4
LRPPRC 0 0 4 0 4
LYST 0 0 4 0 4
LZTR1 1 1 2 0 4
MAF 0 0 4 0 4
NOTCH1 1 0 3 0 4
NPC1 1 0 3 0 4
NRXN1 0 1 3 0 4
NSD2 1 1 2 0 4
PCDH19 0 1 3 0 4
PDX1 0 0 4 0 4
PHIP 0 0 4 0 4
PIEZO2 0 2 2 0 4
PIGO 0 1 3 0 4
PKP2 3 0 1 0 4
PLCB1 0 0 4 0 4
POLE 0 1 3 0 4
POLG 0 1 3 0 4
POLR2A 0 0 4 0 4
PRDM16 0 0 4 0 4
PTCH1 0 0 4 0 4
RAF1 0 0 4 0 4
RASGRP1 0 0 4 0 4
RNF213 1 0 3 0 4
ROGDI 0 0 4 0 4
RYR2 0 0 4 0 4
SCN1A 0 0 4 0 4
SCN9A 0 0 4 0 4
SHANK3 0 0 4 0 4
SHROOM4 0 0 4 0 4
SKI 0 0 4 0 4
SMAD6 0 1 3 0 4
SMARCB1 0 1 3 0 4
SOX11 0 0 4 0 4
SPTBN4 0 0 4 0 4
STIM1 0 0 4 0 4
STXBP1 0 1 3 0 4
TBC1D24 1 0 3 0 4
TBL1XR1 0 0 4 0 4
TPM1 0 2 2 0 4
TPP1 1 0 3 0 4
UNC80 0 0 4 0 4
USP9X 0 1 3 0 4
VARS1 0 1 3 0 4
WDR26 0 0 4 0 4
ACADSB 0 2 1 0 3
ACAN 0 1 2 0 3
ACSL4 0 0 3 0 3
ACTL6B 0 1 2 0 3
ADNP 0 2 1 0 3
AFF3 0 0 3 0 3
AGO1 0 1 2 0 3
AIRE 1 0 2 0 3
ALDH7A1 1 0 2 0 3
ALG9 0 0 3 0 3
APC2 0 0 3 0 3
APOC2, APOC4-APOC2 0 0 3 0 3
ARFGEF1-DT, CPA6 0 0 3 0 3
ARID1A, LOC129929837 1 0 2 0 3
ASXL1 0 0 3 0 3
ATP1A2 0 0 3 0 3
ATP2A2, LOC126861637 0 0 3 0 3
ATP7A 0 0 3 0 3
AVEN, RYR3 0 0 3 0 3
BBS10 0 0 3 0 3
BRD4 0 1 2 0 3
CAMK2B 0 0 3 0 3
CASQ2 0 0 3 0 3
CC2D1A 0 0 3 0 3
CC2D2A 0 0 3 0 3
CCDC88C 0 0 3 0 3
CCDST, FLG 2 0 1 0 3
CDH15 0 0 3 0 3
CHAMP1 0 0 3 0 3
CHD4 0 0 3 0 3
CILK1 0 0 3 0 3
CLCN4 0 0 3 0 3
CLIP1 0 0 3 0 3
CNKSR2 0 1 2 0 3
CNNM2 0 1 2 0 3
CNOT1 1 0 2 0 3
CNTN2 0 0 3 0 3
COL11A1 0 0 3 0 3
CTC1 0 1 2 0 3
CTCF 1 0 2 0 3
DLG4 0 0 3 0 3
DMD 0 0 3 0 3
EFTUD2 0 0 3 0 3
ERMARD 0 0 3 0 3
FGFR2 0 0 3 0 3
FHOD3 0 0 3 0 3
FOXP2 0 0 3 0 3
FRMPD4 0 0 3 0 3
FRRS1L 0 1 2 0 3
G6PD 3 0 0 0 3
GABBR2 0 0 3 0 3
GABRG2 0 0 3 0 3
GJB2 2 0 1 0 3
GLRA1 1 0 2 0 3
GNB1 0 0 3 0 3
GRIK2 0 0 3 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 3
HCFC1 0 0 3 0 3
HCN2 0 0 3 0 3
HECW2 0 0 3 0 3
HNRNPK 0 1 2 0 3
HNRNPU 0 0 3 0 3
HS6ST2 0 0 3 0 3
IGLL1 0 0 3 0 3
IL12RB1 0 0 3 0 3
IL1RAPL1 0 0 3 0 3
IQSEC2 0 1 2 0 3
IRF2BPL, LOC107984638 0 0 3 0 3
KANSL1 0 0 3 0 3
KATNIP 0 0 3 0 3
KCNH5 0 0 3 0 3
KCNJ10 0 0 3 0 3
KDM5B 0 1 2 0 3
KMT2D, LOC126861520 0 0 3 0 3
LAMC1 0 0 3 0 3
LBR 0 0 3 0 3
LCAT 0 0 3 0 3
LDB3 0 0 3 0 3
LRBA 0 0 3 0 3
MAST1 0 0 3 0 3
MICAL1 0 0 3 0 3
MID1 0 0 3 0 3
MSL3 0 0 3 0 3
MYH6 0 0 3 0 3
MYO7A 0 1 2 0 3
NACC1 0 1 2 0 3
NCKAP1 0 1 2 0 3
NCOR1 0 0 3 0 3
NEBL 0 0 3 0 3
NF2 0 0 3 0 3
NFIB 0 0 3 0 3
NFIX 1 0 2 0 3
NID1 0 0 3 0 3
NSDHL 0 0 3 0 3
ODC1 0 0 3 0 3
PCLO 0 0 3 0 3
PIK3AP1 0 0 3 0 3
PKD1 1 0 2 0 3
PMPCB 0 1 2 0 3
PNPO 0 1 2 0 3
POMT2 1 1 1 0 3
PPP2R5D 0 0 3 0 3
PRICKLE2 0 0 3 0 3
RAG1 0 0 3 0 3
RANBP2 0 0 3 0 3
RTEL1, RTEL1-TNFRSF6B 1 1 1 0 3
RTTN 0 0 3 0 3
RYR1 0 1 2 0 3
SAMD9 0 0 3 0 3
SAMD9L 0 0 3 0 3
SIK1 0 0 2 1 3
SLC12A2 0 0 3 0 3
SLC17A5 2 0 1 0 3
SLC1A3 0 0 3 0 3
SLC2A1 1 0 2 0 3
SLC2A2 0 0 3 0 3
SOX4 0 0 3 0 3
SPECC1L, SPECC1L-ADORA2A 0 0 3 0 3
SPEN 0 0 3 0 3
SPINK5 0 1 2 0 3
SPRED1 0 0 3 0 3
ST3GAL3 0 0 3 0 3
STAT5B 0 0 3 0 3
TAOK1 0 0 3 0 3
TNFRSF13B 0 0 3 0 3
TNK2 0 0 3 0 3
TRIM71 0 0 3 0 3
TRPM3 0 0 3 0 3
UNC13A 0 0 3 0 3
UPB1 0 1 2 0 3
WAC 0 1 2 0 3
WASHC4 0 1 2 0 3
WDPCP 0 0 3 0 3
WDR37 0 0 3 0 3
WDR62 0 0 3 0 3
WWOX 0 0 3 0 3
YEATS2 0 0 3 0 3
ZBTB18 1 1 1 0 3
ZEB2 0 0 3 0 3
ZNF142 0 1 2 0 3
ZNF292 0 0 3 0 3
ZNF469 0 0 3 0 3
​intergenic 0 0 2 0 2
ABCA2 0 0 2 0 2
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, LOC131696449, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA6, NPIPA7, NTAN1, PDXDC1, PLA2G10, RRN3 0 2 0 0 2
ABHD14A-ACY1, ACY1 0 1 1 0 2
ACOT1, HEATR4 0 0 2 0 2
ACOX1 0 1 1 0 2
ACTB 0 1 1 0 2
ACTG2 1 1 0 0 2
ADGRG1 0 1 1 0 2
ADSL 0 0 2 0 2
AICDA 0 0 2 0 2
AKAP6 0 0 2 0 2
AKT2 0 0 2 0 2
ALDH18A1 0 0 2 0 2
ALG1 0 1 1 0 2
ALKBH8 0 0 2 0 2
ALMS1, LOC126806252 0 0 2 0 2
ANO3 0 0 2 0 2
APC 2 0 0 0 2
APOA5 0 0 2 0 2
APOC3 0 0 2 0 2
ARHGEF15 0 0 2 0 2
ARHGEF9 0 0 2 0 2
ARID2 0 0 2 0 2
ARL6 0 0 2 0 2
ARNT2 0 0 2 0 2
ATAD3A, ATAD3B, LOC129388422, LOC129929131, LOC129929132, LOC129929133 0 2 0 0 2
ATN1 0 0 2 0 2
ATP6V0A1 0 0 2 0 2
ATP8A2 0 0 2 0 2
ATPAF2 0 0 2 0 2
ATRIP, ATRIP-TREX1, TREX1 0 1 1 0 2
B9D1 0 1 1 0 2
BAG3 0 0 2 0 2
BCL11A 1 0 1 0 2
BCOR 0 0 2 0 2
BCORL1 0 0 2 0 2
BDP1 0 0 2 0 2
BLTP1 0 0 2 0 2
BMP2 0 0 2 0 2
BRAF 1 0 1 0 2
BRSK2 0 0 2 0 2
BTD 1 1 0 0 2
C22orf31 0 0 2 0 2
CACNB4 0 0 2 0 2
CACNG2 0 0 2 0 2
CAD 0 1 1 0 2
CAMK2A 0 0 2 0 2
CASP8 0 0 2 0 2
CAST 0 0 2 0 2
CCDC141 0 0 2 0 2
CCDC39 0 0 2 0 2
CCDC85C, CCNK 0 0 2 0 2
CDH23 0 1 1 0 2
CDH4 0 0 2 0 2
CDKL5 0 2 0 0 2
CDKN1C 0 0 2 0 2
CEP85L, PLN 1 1 0 0 2
CFAP73, DDX54 0 0 2 0 2
CIITA 0 0 2 0 2
CLASP1, RNU4ATAC 2 0 0 0 2
CLCN1 2 0 0 0 2
CLCN7 0 0 2 0 2
CLN3 0 0 2 0 2
CNOT3 0 0 2 0 2
COG4 0 0 2 0 2
COL12A1 0 0 2 0 2
COL1A1 0 1 1 0 2
COL5A2 0 0 2 0 2
CPAP 0 1 1 0 2
CPLANE1 2 0 0 0 2
CPS1 0 0 2 0 2
CPT2 2 0 0 0 2
CRAT 0 0 2 0 2
CSMD3 0 0 2 0 2
CSNK2B 1 1 0 0 2
CUL4B 0 0 2 0 2
CWF19L1 1 1 0 0 2
D2HGDH 0 0 2 0 2
DARS1 0 0 2 0 2
DDX54 0 0 2 0 2
DHDDS 0 0 2 0 2
DHX58 0 0 1 1 2
DIAPH1 0 0 2 0 2
DMXL2 0 0 2 0 2
DNAH9 0 0 2 0 2
DNM1 0 0 2 0 2
DNMT1 0 0 2 0 2
DOK7 0 0 2 0 2
DONSON 0 2 0 0 2
DSC2 0 0 2 0 2
DSCAM 0 0 2 0 2
DSG2 0 1 1 0 2
DUOX2 0 0 2 0 2
DYRK1A 0 0 2 0 2
EEF1A2 0 0 2 0 2
EEF2 0 0 2 0 2
EIF2AK2 0 0 2 0 2
EIF3F 0 0 2 0 2
EPHB4 0 1 1 0 2
ERBB4 0 0 2 0 2
ERF 0 0 2 0 2
EXOC7 0 0 2 0 2
FASN 0 0 2 0 2
FBXO11 0 0 2 0 2
FGFR3 1 0 1 0 2
FIG4 0 1 1 0 2
FKRP 0 1 1 0 2
FKTN 0 0 2 0 2
FLT4 0 1 1 0 2
FMN2 0 0 2 0 2
FPGT-TNNI3K, LRRC53, TNNI3K 0 0 2 0 2
GABRA2 0 0 2 0 2
GABRA6 0 0 2 0 2
GABRB2 0 1 1 0 2
GAL 0 0 2 0 2
GAMT 0 0 2 0 2
GATAD2B 0 0 2 0 2
GFAP 0 0 2 0 2
GLS 0 0 2 0 2
GLUD1 0 0 2 0 2
GRIA1 0 0 2 0 2
GRIA4 0 0 2 0 2
GRM7 0 0 2 0 2
GTPBP3 0 1 1 0 2
HEPACAM 0 0 2 0 2
HFE 2 0 0 0 2
HGSNAT 0 0 2 0 2
HNMT 0 1 1 0 2
HSD17B4 0 0 2 0 2
HSPG2 0 0 2 0 2
HYDIN 0 0 2 0 2
ICE2 0 0 2 0 2
IFT172, KRTCAP3 0 0 2 0 2
IFT172, LOC126806173 0 0 2 0 2
IKZF1 0 0 2 0 2
IL17RA 0 0 2 0 2
INS, INS-IGF2 0 0 2 0 2
IRAK1BP1, PHIP 0 0 2 0 2
JUP 0 0 2 0 2
KCNA2 0 0 2 0 2
KCNE1 0 0 2 0 2
KCNE2, LOC105372791 0 0 2 0 2
KCNH1 0 0 2 0 2
KCNJ1 0 0 2 0 2
KCNJ11 0 0 2 0 2
KCNN3 0 0 2 0 2
KCNQ1, KCNQ1OT1 0 0 2 0 2
KDM3B 0 0 2 0 2
KDM5A 0 0 2 0 2
KDM6A 0 0 2 0 2
KIAA0586 1 1 0 0 2
KIF11 0 0 2 0 2
KIF21B 0 0 2 0 2
KIF7 0 0 2 0 2
KLF9-DT, TRPM3 0 0 2 0 2
KNL1 0 0 2 0 2
KRAS 1 0 1 0 2
LAS1L 0 0 2 0 2
LGI1 0 0 2 0 2
LMAN2L 0 0 2 0 2
LOC101928525, MRPS2 0 0 2 0 2
LOC105371856, TANC2 0 0 2 0 2
LOC114827851, MYH6 0 0 2 0 2
LOC126806431, TTN 0 0 2 0 2
LOC126807323, TRIO 0 0 2 0 2
LOC126861509, PRICKLE1 0 0 2 0 2
LOC126863207, MID1 0 0 2 0 2
LSS 0 0 2 0 2
MADD 0 0 2 0 2
MALT1 0 0 2 0 2
MAOA 0 1 1 0 2
MAP2 0 0 2 0 2
MASP2 0 1 1 0 2
MAST4 0 0 2 0 2
MBOAT7 0 0 2 0 2
MCPH1 0 0 2 0 2
MEF2C 0 0 2 0 2
MEIS2 0 0 2 0 2
MILR1, POLG2 0 0 2 0 2
MLYCD 0 0 2 0 2
MMACHC 2 0 0 0 2
MN1 0 0 2 0 2
MORC2 0 0 2 0 2
MRE11 1 1 0 0 2
MSH2 0 0 2 0 2
MTHFR 0 0 2 0 2
MTR 0 1 1 0 2
MVP-DT, PRRT2 1 0 1 0 2
MYD88 0 1 1 0 2
MYH10 0 0 2 0 2
MYH3 0 0 2 0 2
MYH9 0 0 2 0 2
MYPN 0 0 2 0 2
NAA10 0 0 2 0 2
NARS1 0 0 2 0 2
NEUROD2 0 0 2 0 2
NHLRC1 0 0 2 0 2
NHS 0 0 2 0 2
NKX2-5 0 0 2 0 2
NLRP12 0 0 2 0 2
NOD2 0 0 2 0 2
NONO 1 0 1 0 2
NPRL2 0 1 1 0 2
NR3C2 0 1 1 0 2
NUP133 0 1 1 0 2
NUS1 0 0 2 0 2
OTOG 0 0 2 0 2
PAK1 0 0 2 0 2
PALB2 2 0 0 0 2
PAX2 0 0 2 0 2
PCCB 1 1 0 0 2
PDE4D 0 0 2 0 2
PDHA1 1 0 1 0 2
PHACTR1, TBC1D7-LOC100130357 1 0 1 0 2
PHLPP1 0 0 2 0 2
PIDD1 0 0 2 0 2
PIEZO1 0 2 0 0 2
PIK3R1 0 0 2 0 2
PLA2G6 0 0 2 0 2
PLPBP 0 0 2 0 2
PLXNA3 0 0 2 0 2
PNPLA6 0 0 2 0 2
POMT1 1 1 0 0 2
POU3F3 0 1 1 0 2
PPARG 1 0 1 0 2
PPP2CA 0 0 2 0 2
PPP3CA 0 0 2 0 2
PPT1 1 0 1 0 2
PRKAG2 0 0 2 0 2
PRKD1 0 0 2 0 2
PROKR2 0 1 1 0 2
PSMD12 0 0 2 0 2
PTPN23 0 0 2 0 2
PUF60 0 0 2 0 2
PUM1 0 0 2 0 2
QRICH1 0 1 1 0 2
RAB11B 0 1 1 0 2
RALGAPA1 0 0 2 0 2
RARS2 0 1 1 0 2
RASA2 0 0 2 0 2
RBL2 0 0 2 0 2
RBPJ 0 0 2 0 2
RNASEH2B 1 0 1 0 2
RNF13 0 0 2 0 2
RORB 0 0 2 0 2
RREB1 0 0 2 0 2
RTN4IP1 0 0 2 0 2
RUSF1, SLC5A2 0 0 2 0 2
SATB2 1 0 1 0 2
SCN10A 0 0 2 0 2
SDCCAG8 0 0 2 0 2
SDK2 0 0 2 0 2
SEMA6B 0 0 2 0 2
SGCD 0 0 2 0 2
SHANK1 0 0 2 0 2
SLC25A12 0 0 2 0 2
SLC45A1 0 0 2 0 2
SLC6A19 0 0 2 0 2
SLC9A6 0 0 2 0 2
SLC9A7 0 0 2 0 2
SLX4 0 0 2 0 2
SMARCE1 0 0 2 0 2
SMC3 0 0 2 0 2
SMPD1 0 0 2 0 2
SOBP 0 0 2 0 2
SPART 1 0 1 0 2
SPTBN2 0 0 2 0 2
STARD7 0 0 2 0 2
STAT1 0 0 1 1 2
SUPT16H 0 0 2 0 2
SUZ12 0 0 2 0 2
SYN1 0 0 2 0 2
SYNCRIP 0 0 2 0 2
SYNRG 0 0 2 0 2
TANGO2 1 0 1 0 2
TAP2 0 0 2 0 2
TBCD 0 1 1 0 2
TBR1 0 0 2 0 2
TBXAS1 0 1 1 0 2
TCF12 0 0 2 0 2
TCF3 0 0 2 0 2
TCF7L2 0 0 2 0 2
TENM3 0 0 2 0 2
TET2 0 0 2 0 2
TFAP2B 0 0 2 0 2
TGFBR2 0 0 2 0 2
TGIF1 0 0 2 0 2
TLK2 0 0 2 0 2
TM4SF20 0 0 2 0 2
TMEM43 0 0 2 0 2
TNNI3 0 1 1 0 2
TNRC6A 0 0 2 0 2
TOP2B 0 0 2 0 2
TP53 2 0 0 0 2
TRAF7 0 0 2 0 2
TSC1 0 0 2 0 2
TSPOAP1 0 0 2 0 2
TUB 0 0 2 0 2
TUBB2B 0 1 1 0 2
TWNK 0 0 2 0 2
TXNRD2 0 0 2 0 2
UNC13B 0 0 2 0 2
UNC13D 0 0 2 0 2
VARS2 0 1 1 0 2
VWA3B 0 0 2 0 2
VWF 1 1 0 0 2
YY1 0 0 2 0 2
ZBTB20 0 1 1 0 2
ZIC1 0 1 1 0 2
ZMYND11 0 0 2 0 2
ZNF335 0 0 2 0 2
A2ML1 0 0 1 0 1
AADACL3, AADACL4, ACOT7, ACTL8, AGMAT, AGTRAP, AJAP1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ANGPTL7, ARHGEF10L, ARHGEF19, ATP13A2, C1orf167, CA6, CAMTA1, CAPZB, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CHD5, CIROZ, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EMC1, ENO1, EPHA2, ERRFI1, ESPN, EXOSC10, FAM131C, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HSPB7, HTR6, ICMT, IFFO2, IGSF21, KAZN, KCNAB2, KIAA2013, KIF1B, KLHDC7A, KLHL21, LINC01783, LRRC38, LZIC, MAD2L2, MASP2, MFAP2, MFN2, MICOS10, MICOS10-NBL1, MIIP, MIR34A, MRTO4, MTHFR, MTOR, NBL1, NBPF1, NECAP2, NMNAT1, NOL9, NPHP4, NPPA, NPPB, OTUD3, PADI1, PADI2, PADI3, PADI4, PADI6, PARK7, PAX7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RCC2, RERE, RNF186, RNF207, RNU1-4, RPL22, RSC1A1, SDHB, SLC25A33, SLC25A34, SLC2A5, SLC2A7, SLC45A1, SLC66A1, SPATA21, SPEN, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, TAS1R2, THAP3, TMCO4, TMEM201, TMEM51, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, TRE-TTC3-1, TRG-CCC1-1, TRQ-CTG14-1, UBE4B, UBIAD1, UBR4, UBXN10, UTS2, VAMP3, VPS13D, ZBTB17, ZBTB48 1 0 0 0 1
AASS 0 0 1 0 1
ABCA2, LOC126860796 0 0 1 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, LOC129390771, LOC131696449, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA6, NPIPA7, NTAN1, PDXDC1, PLA2G10, RRN3 0 1 0 0 1
ABCC11, ABCC12, ADCY7, ADGRG1, ADGRG3, ADGRG5, AKTIP, AMFR, ARL2BP, BBS2, BRD7, C16orf78, C16orf87, CAPNS2, CASC16, CASC22, CBLN1, CCDC102A, CCL17, CCL22, CES1, CES5A, CETP, CFAP20, CFAP263, CHD9, CHD9NB, CIAPIN1, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CX3CL1, CYLD, DNAJA2, DNAJA2-DT, DOK4, DRC7, FTO, FTO-IT1, GINS3, GNAO1, GNAO1-DT, GOT2, GPT2, HEATR3, HERPUD1, HNRNPA1L3, IRX3, IRX5, IRX6, ITFG1, KATNB1, KIFC3, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02137, LINC02140, LINC02141, LINC02168, LINC02169, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LINC03064, LOC101927272, LOC101927480, LOC101927556, LOC102723373, LOC102725116, LOC105371240, LOC105371296, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121587546, LOC121587547, LOC121587548, LOC121847987, LOC121847988, LOC121847989, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC129390795, LOC129390796, LOC129390797, LOC129390798, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC130059018, LOC130059019, LOC130059020, LOC130059021, LOC130059022, LOC130059023, LOC130059024, LOC130059025, LOC130059026, LOC130059027, LOC130059028, LOC130059029, LOC130059030, LOC130059031, LOC130059032, LOC130059033, LOC130059034, LOC130059035, LOC130059036, LOC130059037, LOC130059038, LOC130059039, LOC130059040, LOC130059041, LOC130059042, LOC130059043, LOC130059044, LOC130059045, LOC130059046, LOC130059047, LOC130059048, LOC130059049, LOC130059050, LOC130059051, LOC130059052, LOC130059053, LOC130059054, LOC130059055, LOC130059056, LOC130059057, LOC130059058, LOC130059059, LOC130059060, LOC130059061, LOC130059062, LOC130059063, LOC130059064, LOC130059065, LOC130059066, LOC130059067, LOC130059068, LOC130059069, LOC130059070, LOC130059071, LOC130059072, LOC130059073, LOC130059074, LOC130059075, LOC130059076, LOC130059077, LOC130059078, LOC130059079, LOC130059080, LOC130059081, LOC130059082, LOC130059083, LOC130059084, LOC130059085, LOC130059086, LOC130059087, LOC130059088, LOC130059089, LOC130059090, LOC130059091, LOC130059092, LOC130059093, LOC130059094, LOC130059095, LOC130059096, LOC130059097, LOC130059098, LOC130059099, LOC130059100, LOC130059101, LOC130059102, LOC130059103, LOC130059104, LOC130059105, LOC130059106, LOC130059107, LOC130059108, LOC130059109, LOC130059110, LOC130059111, LOC130059112, LOC130059113, LOC130059114, LOC130059115, LOC130059116, LOC130059117, LOC130059118, LOC130059119, LOC130059120, LOC130059121, LOC130059122, LOC130059123, LOC130059124, LOC130059125, LOC130059126, LOC130059127, LOC130059128, LOC130059129, LOC130059130, LOC130059131, LOC130059132, LOC130059133, LOC130059134, LOC130059135, LOC130059136, LOC130059137, LOC130059138, LOC130059139, LOC130059140, LOC130059141, LOC130059142, LOC130059143, LOC130059144, LOC130059145, LOC130059146, LOC130059147, LOC130059148, LOC130059149, LOC132090379, LOC132090380, LOC132090381, LOC132090382, LOC132090383, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC388282, LONP2, LPCAT2, MIR138-2, MIR3181, MIR3935, MIR6771, MIR6772, MIR6863, MMP15, MMP2, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MYLK3, N4BP1, NDRG4, NETO2, NKD1, NLRC5, NOD2, NUDT21, NUP93, NUP93-DT, OGFOD1, ORC6, PHKB, PLLP, POLR2C, PRSS54, PSME3IP1, RBL2, RPGRIP1L, RSPRY1, SALL1, SETD6, SHCBP1, SIAH1, SLC12A3, SLC38A7, SLC6A2, SNORA46, SNORA50A, SNORD148, SNX20, SPMIP8, SYNAGE, TENT4B, TOX3, TRL-CAG2-1, TRL-CAG2-2, USB1, VPS35, ZNF319, ZNF423 1 0 0 0 1
ABCC6 0 0 1 0 1
ABCC9 0 0 1 0 1
ABCD1 0 0 1 0 1
ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, CCNQ, CD99L2, CETN2, CNGA2, CSAG1, CSAG2, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DNASE1L1, DUSP9, EMD, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FAM223A, FAM223B, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1NB, FRAXA, FRAXE, G6PD, GABRA3, GABRE, GABRQ, GDI1, GPR50, HAUS7, HCFC1, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDH3G, IDS, IKBKG, IRAK1, L1CAM, LAGE3, LDOC1, LINC00850, LINC02927, LOC100533997, LOC105373367, LOC105373378, LOC105373383, LOC105377213, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC109396974, LOC110121199, LOC111365170, LOC111589209, LOC113875014, LOC116309161, LOC116309162, LOC121627982, LOC121627983, LOC121627985, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC125467790, LOC125467791, LOC125467792, LOC125467793, LOC126863333, LOC126863334, LOC126863335, LOC126863336, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC126863343, LOC126863344, LOC126863345, LOC126863346, LOC126863347, LOC129391317, LOC129391318, LOC129929048, LOC129929049, LOC129929050, LOC129929051, LOC129929052, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, LOC130068807, LOC130068808, LOC130068809, LOC130068810, LOC130068811, LOC130068812, LOC130068813, LOC130068814, LOC130068815, LOC130068816, LOC130068817, LOC130068818, LOC130068819, LOC130068820, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC645188, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA3-DT, MAGEA4, MAGEA6, MAGEA6-DT, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR12129, MIR2114, MIR224, MIR3202-1, MIR3202-2, MIR320D2, MIR4330, MIR452, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR6858, MIR718, MIR767, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PASD1, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PRRG3, PWWP4, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SNORA70, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TREX2, UBE2NL, UBL4A, VMA21, ZFP92, ZNF185, ZNF275 1 0 0 0 1
ABHD16B, ADNP, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, ATP9A, AURKA, BCAS1, BCAS4, BHLHE23, BIRC7, BMP7, C20orf181, C20orf204, CABLES2, CASS4, CBLN4, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSTF1, CTCFL, CTSZ, CYP24A1, DIDO1, DNAJC5, DOK5, DPM1, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, HAR1A, HAR1B, HELZ2, HRH3, KCNG1, KCNQ2, LAMA5, LIME1, LINC00029, LINC00266-1, LINC00659, LINC01056, LINC01429, LINC01440, LINC01441, LINC01524, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121370, LOC110121454, LOC110121469, LOC110594337, LOC111365159, LOC111413042, LOC112268270, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC116286209, LOC120285836, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC128772425, LOC128772426, LOC129391192, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC129456124, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, LOC130066173, LOC130066174, LOC130066175, LOC130066176, LOC130066177, LOC130066178, LOC130066179, LOC130066180, LOC130066181, LOC130066182, LOC130066183, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3194, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4756, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MOCS3, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NFATC2, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OPRL1, OSBPL2, PARD6B, PCK1, PCMTD2, PFDN4, PHACTR3, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RGS19, RIPOR3, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, RTF2, SALL4, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TSHZ2, TUBB1, UCKL1, VAPB, YTHDF1, ZBP1, ZBTB46, ZFP64, ZGPAT, ZNF217, ZNF512B, ZNF831 1 0 0 0 1
ACADM 1 0 0 0 1
ACADS 1 0 0 0 1
ACADVL 0 0 1 0 1
ACBD6, LHX4 0 0 1 0 1
ACIN1, LOC126861894 0 0 1 0 1
ACOT7, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, LOC121967058, LOC126805597, LOC126805598, LOC129929224, LOC129929225, LOC129929226, LOC129929227, LOC129929228, LOC129929229, LOC129929230, LOC129929231, LOC129929232, LOC129929233, LOC129929234, LOC129929235, LOC129929236, LOC129929237, LOC129929238, LOC129929239, LOC129929240, LOC129929241, LOC129929242, LOC129929243, LOC129929244, LOC129929245, LOC129929246, LOC129929247, MIR4252, PLEKHG5, TNFRSF25 0 0 1 0 1
ACOX2 0 1 0 0 1
ACP6, BCL9, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89B, LINC00624, LINC01138, LINC01731, LINC02805, LINC02806, LOC101927468, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128420, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388602, LOC129388603, LOC129388604, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, MIR5087, MIR6077, NBPF11, NBPF12, NOTCH2NLA, PPIAL4G, PPIAL4H, PRKAB2, RNVU1-1, RNVU1-3, RNVU1-7, RNVU1-8, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1 1 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, LINC00624, LINC01138, LINC01731, LINC02805, LINC02806, LOC101927468, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128420, LOC126805853, LOC126805854, LOC128071544, LOC129388602, LOC129388603, LOC129388604, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, MIR5087, MIR6077, NBPF11, PRKAB2, RNVU1-1, RNVU1-3, RNVU1-7, RNVU1-8, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1 1 0 0 0 1
ACTN2 0 0 1 0 1
ACVRL1 1 0 0 0 1
ADA2 0 0 1 0 1
ADAM17, IAH1 0 0 1 0 1
ADAM22 0 1 0 0 1
ADAMTS17 0 0 1 0 1
ADAMTS19 0 0 1 0 1
ADAR 0 0 1 0 1
ADCYAP1, AFG3L2, AKAIN1, ANKRD12, ANKRD30B, ANKRD62, APCDD1, ARHGAP28, CEP192, CEP76, CETN1, CHMP1B, CIDEA, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, FAM210A, GNAL, IMPA2, L3MBTL4, LAMA1, LDLRAD4, LPIN2, LRRC30, MC2R, MC5R, METTL4, MPPE1, MTCL1, MYL12A, MYL12B, MYOM1, NAPG, NDC80, NDUFV2, PIEZO2, POTEC, PPP4R1, PRELID3A, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RNMT, SEH1L, SLC35G4, SMCHD1, SPIRE1, TGIF1, THOC1, TMEM200C, TUBB6, TWSG1, TXNDC2, TYMS, TYMSOS, USP14, VAPA, YES1, ZBTB14, ZNF519 1 0 0 0 1
ADD3 0 0 1 0 1
ADGRG1, ADGRG5, AMFR, ARL2BP, BBS2, CAPNS2, CCDC102A, CCL17, CCL22, CES1, CES5A, CETP, CIAPIN1, COQ9, CPNE2, CRNDE, CX3CL1, DOK4, FTO, FTO-IT1, GNAO1, GNAO1-DT, HERPUD1, IRX3, IRX5, IRX6, LINC02140, LINC02169, LOC101927480, LOC102725116, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120835, LOC110120837, LOC110120838, LOC110120839, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC121587546, LOC121587547, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC129390796, LOC130059036, LOC130059037, LOC130059038, LOC130059039, LOC130059040, LOC130059041, LOC130059042, LOC130059043, LOC130059044, LOC130059045, LOC130059046, LOC130059047, LOC130059048, LOC130059049, LOC130059050, LOC130059051, LOC130059052, LOC130059053, LOC130059054, LOC130059055, LOC130059056, LOC130059057, LOC130059058, LOC130059059, LOC130059060, LOC130059061, LOC130059062, LOC130059063, LOC130059064, LOC130059065, LOC130059066, LOC130059067, LOC130059068, LOC130059069, LOC130059070, LOC130059071, LOC130059072, LOC130059073, LOC130059074, LOC130059075, LOC130059076, LOC130059077, LOC130059078, LOC130059079, LOC130059080, LOC130059081, LOC130059082, LOC130059083, LOC130059084, LOC130059085, LOC130059086, LOC130059087, LOC130059088, LOC130059089, LOC130059090, LOC130059091, LOC130059092, LOC130059093, LOC130059094, LOC130059095, LOC130059096, LOC130059097, LOC130059098, LOC130059099, LOC130059100, LOC130059101, LOC130059102, LOC130059103, LOC130059104, LOC130059105, LOC130059106, LOC130059107, LOC130059108, LOC130059109, LOC130059110, LOC130059111, LOC130059112, LOC130059113, LOC130059114, LOC130059115, LOC130059116, LOC132090381, LOC132090382, LOC132090383, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LPCAT2, MIR138-2, MIR3935, MIR6863, MMP2, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NLRC5, NUDT21, NUP93, NUP93-DT, OGFOD1, PLLP, POLR2C, PSME3IP1, RSPRY1, SLC12A3, SLC6A2, TRL-CAG2-1, TRL-CAG2-2 1 0 0 0 1
ADGRV1, ARRDC3, CCNH, CETN3, COX7C, CRE1, LINC01339, LINC01949, LINC02059, LINC02060, LINC02144, LINC02488, LOC101929380, LOC102724637, LOC110120637, LOC110120638, LOC110120640, LOC110120688, LOC110120771, LOC110120789, LOC113002595, LOC121079950, LOC121725209, LOC121725210, LOC123497930, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389312, LOC129389313, LOC129389314, LOC129389315, LOC129389316, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129994165, LOC129994166, LOC129994167, LOC129994168, LOC129994169, LOC129994170, LOC129994171, LOC129994172, LOC129994173, LOC129994174, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC132089304, LOC644285, LOC645261, LOC731157, LUCAT1, LYSMD3, MBLAC2, MEF2C, MIR3660, MIR4280, MIR4280HG, MIR9-2, MIR9-2HG, POLR3G, RASA1, SNORD138, TMEM161B, TMEM161B-DT 1 0 0 0 1
ADGRV1, LOC123497934, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273 0 0 1 0 1
ADM2, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, DENND6B, HDAC10, KLHDC7B, KLHDC7B-DT, LINC03232, LMF2, LOC108281149, LOC121853047, LOC121853048, LOC125446261, LOC125446262, LOC126863184, LOC126863185, LOC126863186, LOC130067805, LOC130067806, LOC130067807, LOC130067808, LOC130067809, LOC130067810, LOC130067811, LOC130067812, LOC130067813, LOC130067814, LOC130067815, LOC130067816, LOC130067817, LOC130067818, LOC130067819, LOC130067820, LOC130067821, LOC130067822, LOC130067823, LOC130067824, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, MAPK11, MAPK12, MIOX, MIR12114, MLC1, MOV10L1, NCAPH2, PANX2, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP 0 0 1 0 1
ADRA2C, BLOC1S4, C4orf50, CFAP184, CFAP184-OT1, CRMP1, CYTL1, DOK7, EVC, EVC2, GRPEL1, HGFAC, HTT, JAKMIP1, JAKMIP1-DT, KIAA0232, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC03091, LOC101928279, LOC101928306, LOC105374354, LOC107986218, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC121048737, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC128125818, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992152, LOC129992153, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992160, LOC129992161, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC129992166, LOC129992167, LOC129992168, LOC129992169, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LRPAP1, LYAR, MAN2B2, MIR378D1, MIR4274, MIR4798, MRFAP1, MRFAP1L1, MRFAP1L1-DT, MRFAP1L2, MSANTD1, MSX1, NSG1, OTOP1, PPP2R2C, PSAPL1, RGS12, S100P, SNORD162, SORCS2, STK32B, STK32B-DT, STX18, STX18-IT1, TADA2B, TBC1D14, TMEM128, WFS1, ZBTB49 0 1 0 0 1
AFF2 0 0 1 0 1
AFF2, CXorf51A, CXorf51B, EOLA1, EOLA1-DT, FMR1, FMR1NB, FRAXA, FRAXE, HSFX2, HSFX3, IDS, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC109396974, LOC121627983, LOC122319696, LOC125467790, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC129929048, LOC129929049, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, MAGEA11, MAGEA9B, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, SLITRK2, SLITRK4, SPANXN1, SPANXN2, SPANXN3, TMEM185A, UBE2NL 0 0 1 0 1
AGAP4, AGAP6, AGAP9, ANTXRL, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LINC00842, LINC02637, LINC03029, LOC102724593, LOC105378289, LOC105378577, LOC107001062, LOC107984227, LOC111818966, LOC111818967, LOC111946240, LOC111946243, LOC111946244, LOC113939916, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC130003767, LOC130003768, LOC130003769, LOC130003770, LOC130003771, LOC130003772, LOC130003773, LOC130003774, LOC130003775, LOC130003776, LOC130003777, LOC130003778, LOC130003779, LOC130003780, LOC130003781, LOC130003782, LOC130003783, LOC130003784, LOC130003785, LOC130003786, LOC130003787, LOC130003788, LOC130003789, LOC130003790, LOC130003791, LOC130003792, LOC130003793, LOC130003794, LOC130003795, LOC130003796, LOC130003797, LOC130003798, LOC130003799, LOC130003800, LOC130003801, LOC130003802, LOC130003803, LOC130003804, LOC130003805, LOC130003806, LOC130003807, LOC130003808, LOC130003809, LOC130003810, LRRC18, MAPK8, MIR4294, MSMB, NCOA4, NPY4R, NPY4R2, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SNORA74C-1, SNORA74C-2, SYT15, SYT15B, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM273, VSTM4, WASHC2C, WDFY4, ZNF488 0 1 0 0 1
AGAP4, AGAP6, AGAP9, ANTXRL, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LINC00842, LINC02637, LINC03029, LOC102724593, LOC105378289, LOC105378577, LOC107001062, LOC111818966, LOC111818967, LOC111946240, LOC111946243, LOC111946244, LOC113939916, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC130003767, LOC130003768, LOC130003769, LOC130003770, LOC130003771, LOC130003772, LOC130003773, LOC130003774, LOC130003775, LOC130003776, LOC130003777, LOC130003778, LOC130003779, LOC130003780, LOC130003781, LOC130003782, LOC130003783, LOC130003784, LOC130003785, LOC130003786, LOC130003787, LOC130003788, LOC130003789, LOC130003790, LOC130003791, LOC130003792, LOC130003793, LOC130003794, LOC130003795, LOC130003796, LOC130003797, LOC130003798, LOC130003799, LOC130003800, LOC130003801, LOC130003802, LOC130003803, LOC130003804, LOC130003805, LOC130003806, LOC130003807, LOC130003808, LOC130003809, LOC130003810, LOC130003811, LRRC18, MAPK8, MIR4294, MSMB, NCOA4, NPY4R, NPY4R2, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SNORA74C-1, SNORA74C-2, SYT15, SYT15B, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM273, VSTM4, WASHC2A, WDFY4, ZNF488 0 1 0 0 1
AGBL4 0 0 1 0 1
AGK 0 0 1 0 1
AGO2 0 0 1 0 1
AGO2, LOC126860544 0 0 1 0 1
AHI1 0 1 0 0 1
AHNAK2 0 0 1 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, FAM230B, FAM230E, FAM230F, FAM230G, FAM230J, FAM246B, FAM246C, FAM247A, FAM247B, FAM247C, FAM247D, GGT2, GGTLC3, 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, LOC129391262, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC129391267, LOC129391268, LOC129391269, LOC130066948, 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, RIMBP3, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 1
AIFM3, CRKL, LINC01637, LOC112694767, LOC121627930, LOC121627931, LOC129391266, LOC129391267, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LRRC74B, LZTR1, MIR649, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 0 1 0 1
AIMP2, ANKRD61, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, INTS15, KDELR2, LOC113748402, LOC123924898, LOC123924899, LOC126859938, LOC129389733, LOC129997916, LOC129997917, LOC129997918, LOC129997919, LOC129997920, LOC129997921, LOC129997922, LOC129997923, LOC129997924, LOC129997925, LOC129997926, LOC129997927, LOC129997928, LOC129997929, LOC129997930, LOC129997931, LOC129997932, LOC129997933, LOC129997934, LOC129997935, LOC129997936, LOC129997937, LOC129997938, LOC129997939, LOC129997940, LOC129997941, LOC129997942, LOC129997943, LOC129997944, LOC129997945, LOC129997946, LOC129997947, LOC129997948, LOC129997949, LOC129997950, LOC129997951, LOC129997952, PMS2, RAC1, SAGSIN1, SNORA80D, USP42, ZDHHC4, ZNF316, ZNF853 0 0 1 0 1
AIMP2, CCZ1, EIF2AK1, LOC106783574, LOC123924897, LOC129997913, LOC129997914, LOC129997915, LOC129997916, LOC129997917, LOC129997918, OCM, PMS2, RNF216, RSPH10B, SNORA80D 0 0 1 0 1
AKNA 0 0 1 0 1
AKR1C8, LOC129390123 0 0 1 0 1
AKT3 0 0 1 0 1
ALDOB 1 0 0 0 1
ALG1, EEF2KMT 0 0 1 0 1
ALG11 0 0 1 0 1
ALG3 0 0 1 0 1
ALPK3 0 0 1 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 1
AMOT 0 0 1 0 1
AMT 0 0 1 0 1
AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, COL11A1, DPH5, EXTL2, OLFM3, RNPC3, S1PR1, SLC30A7 0 0 1 0 1
ANK2, LARP7, LOC112935975, LOC123477808, LOC129992988, LOC129992989, LOC129992990, LOC129992991, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, ZGRF1 0 0 1 0 1
ANK2, LOC126807136 0 0 1 0 1
ANK2, LOC126807137 0 0 1 0 1
ANKRD1 0 0 1 0 1
ANKRD11, LOC125177395, LOC130059797, LOC130059798, ZNF778 0 1 0 0 1
ANKRD11, LOC128462377 0 0 1 0 1
ANXA1 0 0 1 0 1
ANXA11, LINC00857, LINC02679, LOC126860977, LOC126860978, LOC126860979, LOC130004183, LOC130004184, LOC130004185, LOC130004186, LOC130004187, LOC130004188, LOC642361, NUTM2B, NUTM2E, PLAC9, SFTPA1, SFTPD, TMEM254 0 0 1 0 1
AOPEP, FANCC 0 1 0 0 1
AP1S2 1 0 0 0 1
AP2M1 1 0 0 0 1
AP3B2, LOC130057772 0 1 0 0 1
AP4M1 0 0 1 0 1
AP4S1 0 1 0 0 1
APBA2, ATP10A, ATP10A-DT, CHRFAM7A, CYFIP1, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8F, GOLGA8G, GOLGA8J, GOLGA8M, GOLGA8S, GOLGA8T, HERC2, IPW, LCIIAR, LINC00929, LINC02249, LINC02250, LINC02346, LOC112272575, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC121847940, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC126862074, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC128772394, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC132090298, LOC132090299, MAGEL2, MIR4508, MIR4509-1, MIR4509-2, MIR4509-3, MIR4715, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TJP1, TRE-TTC2-2, TUBGCP5, UBE3A 1 0 0 0 1
APBA2, ATP10A, ATP10A-DT, CHRFAM7A, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L7, GOLGA8F, GOLGA8G, GOLGA8J, GOLGA8M, GOLGA8R, GOLGA8T, HERC2, IPW, LCIIAR, LINC00929, LINC02249, LINC02250, LINC02346, LOC106736464, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC121847940, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC128772394, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC132090298, LOC132090299, MAGEL2, MIR4508, MIR4509-2, MIR4509-3, MIR4715, MKRN3, NDN, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TJP1, TRE-TTC2-2, UBE3A 1 0 0 0 1
APBA2, ENTREP2, GOLGA6L7, GOLGA8M, LCIIAR, LOC112272581, LOC125078051, LOC125078052, LOC126862085, LOC126862086, LOC126862087, LOC129390677, LOC129390678, LOC130056725, NSMCE3, TJP1 0 0 1 0 1
APOA1 0 0 1 0 1
APOB, LOC106560211 0 0 1 0 1
APTR, CCDC146, CCL24, CCL26, DDX3ILA1, DTX2, FGL2, FPASL, GSAP, GTF2IRD2B, HIP1, HSPB1, LINC03009, LOC101927243, LOC106029313, LOC108228208, LOC108228209, LOC113748412, LOC113748413, LOC113748414, LOC116183091, LOC121175347, LOC121740687, LOC121740688, LOC123956165, LOC123956166, LOC123956167, LOC123956168, LOC123956169, LOC123956170, LOC123956171, LOC123956172, LOC126860075, LOC126860076, LOC126860077, LOC126860078, LOC126860079, LOC129389814, LOC129389815, LOC129389816, LOC129389817, LOC129389818, LOC129929028, LOC129998666, LOC129998667, LOC129998668, LOC129998669, LOC129998670, LOC129998671, LOC129998672, LOC129998673, LOC129998674, LOC129998675, LOC129998676, LOC129998677, LOC129998678, LOC129998679, LOC129998680, LOC129998681, LOC129998682, LOC129998683, LOC129998684, LOC129998685, LOC129998686, LOC129998687, LOC129998688, LOC129998689, LOC129998690, LOC129998691, LOC129998692, LOC129998693, LOC129998694, LOC129998695, LOC129998696, LOC129998697, LOC129998698, LOC129998699, LOC129998700, LOC129998701, LOC129998702, LOC129998703, LOC129998704, LOC129998705, LOC129998706, LOC129998707, LOC129998708, LOC129998709, LOC129998710, LOC129998711, LOC129998712, LOC129998713, LOC129998714, LOC129998715, LOC129998716, LOC129998717, LOC129998718, LOC129998719, LOC129998720, LOC129998721, MAGI2, MDH2, MIR4651, PHTF2, POM121C, POMZP3, POR, PTPN12, RCC1L, RHBDD2, RSBN1L, SNORA14A, SPDYE13, SPDYE14, SPDYE15, SPDYE16, SPDYE17, SPDYE18, SPDYE5, SRRM3, SSC4D, STYXL1, TMEM120A, TMEM60, TRIM73, UPK3B, YWHAG, ZP3 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, EEF1A2, FLJ16779, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LINC00029, LINC01056, LINC01749, LOC100130587, LOC112694727, LOC114004357, LOC121627914, LOC121853020, LOC125387318, LOC125387319, LOC125387320, LOC126863085, LOC126863086, LOC126863087, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, MHENCR, MIR124-3, MIR3196, MIR4326, NKAIN4, PPDPF, PTK6, RTEL1, RTEL1-TNFRSF6B, SLC17A9, SRMS, STMN3, YTHDF1 0 0 1 0 1
ARFGAP1, CHRNA4, COL20A1, EEF1A2, FLJ16779, KCNQ2, LOC100130587, LOC121627914, LOC125387318, LOC125387319, LOC126863086, LOC126863087, LOC129391211, LOC129391212, LOC130066355, LOC130066356, LOC132090594, LOC132090595, LOC132090596, MIR4326 0 1 0 0 1
ARFGEF1 0 0 1 0 1
ARFGEF2 0 0 1 0 1
ARHGAP32, LOC126861385, LOC126861386, TP53AIP1 0 0 1 0 1
ARHGAP44, LINC00670, LOC125177420, LOC126862508, LOC130060298, LOC132090454, MYOCD 0 1 0 0 1
ARHGAP6, FRMPD4, LOC113845784, LOC129391294, LOC130067941, LOC130067942, MSL3, MSL3-DT 0 0 1 0 1
ARHGEF40 0 0 1 0 1
ARHGEF6 0 0 1 0 1
ARID1B, LOC115308161 0 0 1 0 1
ARID2, LOC130007728 0 0 1 0 1
ARLNC1, ATMIN, BCO1, C16orf46, CDH13, CDYL2, CENPN, CMC2, CMIP, DYNLRB2, GAN, GCSH, HSD17B2, LINC01227, LINC01228, LINC01229, LOC100129617, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC105369213, LOC110120569, LOC110121468, LOC111365156, LOC111365213, LOC111429607, LOC111556152, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC113939956, LOC121587563, LOC121587564, LOC121587565, LOC121847993, LOC121847994, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128779116, LOC128849171, LOC128849173, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC130059479, LOC130059480, LOC130059481, LOC130059482, LOC130059483, LOC130059484, LOC130059485, LOC130059486, LOC130059487, LOC130059488, LOC130059489, LOC130059490, LOC130059491, LOC130059492, LOC130059493, LOC130059494, LOC130059495, LOC130059496, LOC130059497, LOC130059498, LOC130059499, LOC130059500, LOC130059501, LOC130059502, LOC130059503, LOC130059504, LOC130059505, LOC130059506, LOC130059507, LOC130059508, LOC130059509, LOC130059510, LOC130059511, LOC130059512, LOC130059513, LOC130059514, LOC130059515, LOC130059516, LOC130059517, LOC130059518, LOC130059519, LOC130059520, LOC130059521, LOC130059522, LOC130059523, LOC130059524, LOC130059525, LOC130059526, LOC130059527, LOC130059528, LOC130059529, LOC130059530, LOC130059531, LOC130059532, LOC130059533, LOC130059534, LOC130059535, LOC130059536, LOC130059537, LOC130059538, LOC130059539, LOC130059540, LOC130059541, LOC130059542, LOC130059543, LOC130059544, LOC130059545, LOC130059546, LOC130059547, LOC130059548, LOC130059549, LOC130059550, LOC130059551, MAF, MAFTRR, MIR3182, MIR4720, MIR6504, MIR7854, MIR8058, MPHOSPH6, PKD1L2, PLCG2, SDR42E1 0 1 0 0 1
ARMCX4 0 0 1 0 1
ARPC1B 0 0 1 0 1
ARPIN, ARPIN-AP3S2 0 0 1 0 1
ARX 0 0 1 0 1
ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, CLVS2, DCBLD1, DSE, FABP7, FAM162B, FAM184A, GJA1, GOPC, GPRC6A, HSF2, KPNA5, MAN1A1, MCM9, NUS1, PKIB, PLN, RFX6, ROS1, RSPH4A, RWDD1, SERINC1, SLC35F1, SMPDL3A, TBC1D32, TRAPPC3L, TRDN, VGLL2, ZUP1 1 0 0 0 1
ASIC4, GMPPA 1 0 0 0 1
ASIC5, CTSO, DCHS2, FGA, FGB, FGG, GUCY1A1, GUCY1B1, LOC105377502, LOC110121190, LOC112939921, LOC114827822, LOC121056747, LOC121725190, LOC121725191, LOC123493221, LOC126807197, LOC126807198, LOC126807199, LOC129389243, LOC129389244, LOC129993289, LOC129993290, LOC129993291, LOC129993292, LOC129993293, LOC129993294, LOC129993295, LOC129993296, LOC129993297, LOC129993298, LOC129993299, LOC129993300, LOC132089054, LOC132089055, LOC132089056, LOC132089057, LOC132090715, LRAT, MAP9, NPY2R, PDGFC, PLRG1, RBM46, TDO2 0 0 1 0 1
ASL 0 1 0 0 1
ASS1 0 1 0 0 1
ATM, C11orf65 0 0 1 0 1
ATP10B 0 0 1 0 1
ATP1A1 0 0 1 0 1
ATP1A2, LOC126805890 0 0 1 0 1
ATP1A3 0 0 1 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, LOC112340393, LOC129390780, LOC129390781, LOC129390782, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NPIPB8, NPIPB9, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 0 0 1
ATP2A1, ATXN2L, CD19, LAT, LOC112340393, LOC129390780, LOC129390781, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 0 0 1 0 1
ATP2B2 0 0 1 0 1
ATP2B3 0 0 1 0 1
ATP5ME, LOC105374338, LOC126806939, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, MIR571, MYL5, PDE6B, PIGG, SLC49A3, TMEM271, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732 0 0 1 0 1
ATP6V0A2 0 0 1 0 1
ATP6V0A2, EIF2B1, GTF2H3, LOC126861665, LOC130009115, LOC130009116, LOC130009117, TCTN2 0 0 1 0 1
ATP7A, CYSLTR1, LOC126863282, LOC129391305, LOC130068462, LOC130068463, LOC130068464, LOC130068465, PGAM4, PGK1, TAF9B 0 0 1 0 1
ATR, LOC126806830 0 0 1 0 1
AVEN, LOC126862094, RYR3 0 0 1 0 1
B9D2 0 0 1 0 1
BAP1 0 0 1 0 1
BAZ2A 0 0 1 0 1
BBIP1 0 0 1 0 1
BBS2, OGFOD1 0 0 1 0 1
BCKDHA 0 1 0 0 1
BCKDK 0 0 1 0 1
BCKDK, KAT8, LOC130058892 0 0 1 0 1
BCL11B 0 0 1 0 1
BCL2L10, CERNA1, GNB5, LOC120807607, LOC121530582, LOC130057077, LOC130057078, LOC130057079, LOC130057080, LOC130057081, LOC130057082, LOC130057083, LOC130057084, LOC130057085, LOC130057086, LOC130057087, LOC130057088, LOC130057089, LOC130057090, LOC132090305, LOC132090306, LOC132090307, MIR1266, MYO5A, MYO5C 0 1 0 0 1
BCL2L14, BORCS5, CREBL2, DUSP16, ETV6, GPR19, LOC116268434, LOC121466691, LOC121466692, LOC124625903, LOC124625904, LOC124625905, LOC124625906, LOC124625907, LOC124625908, LOC124625909, LOC126861451, LOC126861452, LOC126861453, LOC126861454, LOC130007418, LOC130007419, LOC130007420, LOC130007421, LOC130007422, LOC130007423, LOC130007424, LOC130007425, LOC130007426, LOC130007427, LOC130007428, LOC130007429, LOC130007430, LOC130007431, LOC130007432, LOC130007433, LOC130007434, LOC130007435, LOC130007436, LOC130007437, LOC130007438, LOC130007439, LOC130007440, LOC130007441, LOC130007442, LOC130007443, LOC130007444, LOC130007445, LOC130007446, LOC130007447, LOC130007448, LOC132090038, LOH12CR2, LRP6, MANSC1, MIR1244-4 0 0 1 0 1
BCOR, LOC126863239 0 0 1 0 1
BEST3, CCT2, FRS2, LINC02373, LOC124629401, LOC129390482, LOC130008282, LOC130008283, LOC130008284, LOC130008285, LRRC10, LYZ, MIR3913-1, MIR3913-2, SNORA113, YEATS4 0 0 1 0 1
BLM 1 0 0 0 1
BLNK 0 0 1 0 1
BLOC1S6 0 0 1 0 1
BMAL1 0 0 1 0 1
BMP15, LOC121627972, SHROOM4 0 0 1 0 1
BOD1 0 0 1 0 1
BPTF, LOC130061496 0 0 1 0 1
BRCA1, LOC126862571 0 1 0 0 1
BRCC3, CLIC2, CMC4, CTAG1B, CTAG2, DKC1, F8, F8A1, F8A2, F8A3, FAM223B, FUNDC2, GAB3, H2AB1, H2AB2, H2AB3, IL9R, LOC101927830, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC107522039, LOC107838685, LOC107988024, LOC107988025, LOC113875015, LOC113875016, LOC121627986, LOC125467794, LOC125467795, LOC126863349, LOC130068882, LOC130068883, LOC130068884, LOC130068885, LOC130068886, LOC130068887, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, LOC130068898, MIR1184-1, MIR1184-2, MIR1184-3, MIR664B, MPP1, MTCP1, RAB39B, SMIM9, SNORA36A, SNORA56, SPRY3, TMLHE, VAMP7, VBP1, WASIR1 1 0 0 0 1
BRCC3, CLIC2, CMC4, F8, F8A1, F8A2, F8A3, FUNDC2, H2AB1, H2AB2, H2AB3, LOC101927830, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC113875016, LOC121627986, LOC125467795, LOC126863349, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, MIR1184-1, MIR1184-2, MIR1184-3, MTCP1, RAB39B, TMLHE, VBP1 1 0 0 0 1
BRD9, NKD2, SLC12A7, TRIP13, ZDHHC11, ZDHHC11B 0 0 1 0 1
BRRIAR, ITPR1 0 1 0 0 1
BRS3 0 0 1 0 1
BRS3, HTATSF1, LOC130068749 0 0 1 0 1
BRWD1 0 0 1 0 1
BSX, CLMP, CRTAM, GRAMD1B, HSPA8, JHY, LINC02727, LOC112042785, LOC112042786, LOC124625856, LOC124625857, LOC124625858, LOC126861371, LOC130006961, LOC130006962, LOC130006963, LOC130006964, LOC130006965, LOC130006966, LOC130006967, LOC130006968, LOC130006969, LOC130006970, LOC130006971, LOC130006972, LOC130006973, LOC130006974, LOC130006975, LOC130006976, LOC130006977, LOC130006978, LOC130006979, LOC130006980, LOC130006981, LOC130006982, LOC130006983, LOC130006984, LOC130006985, LOC130006986, LOC130006987, LOC130006988, LOC130006989, LOC130006990, LOC130006991, LOC130006992, LOC130006993, MIR100HG, MIR4493, SCN3B, SNORD14C, SNORD14D, SNORD14E, TRK-TTT2-1, UBASH3B 0 0 1 0 1
BTG3, C21orf91, C21orf91-OT1, CHODL, CXADR, LINC01549, LINC01683, LINC02573, LOC110121341, LOC110121368, LOC112694734, LOC126653317, LOC126653318, LOC126653319, LOC126653320, LOC126653321, LOC129391221, LOC129391222, LOC129391223, LOC129391224, LOC129391225, LOC129391226, LOC129391227, LOC129391228, LOC130066461, LOC130066462, LOC130066463, LOC130066464, LOC130066465, LOC130066466, LOC130066467, LOC130066468, LOC130066469, LOC130066470, LOC130066471, LOC130066472, LOC130066473, MIR125B2, MIR548X, MIR548XHG, MIR99A, MIR99AHG, MIRLET7C, SNORD74B, TMPRSS15, TRG-GCC1-5 0 0 1 0 1
C10orf55, LOC126860960, PLAU 0 0 1 0 1
C12orf57 0 0 1 0 1
C17orf107, C17orf114, CAMTA2, CHRNE, ENO3, GLTPD2, GP1BA, INCA1, KIF1C, LOC112529915, LOC125177408, LOC125177409, LOC126862470, LOC126862471, LOC126862472, LOC126862473, LOC130060033, LOC130060034, LOC130060035, LOC130060036, LOC130060037, LOC130060038, LOC130060039, LOC130060040, LOC130060041, LOC130060042, LOC130060043, LOC130060044, LOC130060045, LOC130060046, LOC130060047, LOC130060048, LOC130060049, LOC130060050, LOC130060051, LOC130060052, LOC130060053, LOC130060054, LOC130060055, LOC130060056, LOC130060057, LOC130060058, LOC130060059, LOC130060060, LOC130060061, LOC130060062, LOC130060063, LOC130060064, LOC130060065, LOC130060066, MINK1, MIR6864, MIR6865, PFN1, PLD2, PSMB6, RNF167, SLC25A11, SLC52A1, SPAG7, TM4SF5, USP6, VMO1, ZFP3, ZFP3-DT, ZNF232 0 0 1 0 1
C17orf107, CHRNE 0 0 1 0 1
C1QL1, DNAAF19, EFTUD2, FAM187A, GFAP, HIGD1B, KIF18B, LOC130060994, LOC130060995, LOC130060996, MIR6783 1 0 0 0 1
C1orf105, PIGC 0 1 0 0 1
C2CD3 0 1 0 0 1
C2CD4A, C2CD4B, LOC107984784, LOC125078094, LOC129390712, LOC130057212, LOC130057213, LOC130057214, LOC130057215, LOC130057216, LOC130057217, VPS13C, VPS13C-DT 0 0 1 0 1
C5 0 0 1 0 1
C6 0 0 1 0 1
C8B 0 0 1 0 1
CABLES2 0 0 1 0 1
CACNA1B, LOC100133077 0 0 1 0 1
CACNA1C, LINC02371, LOC130007181 0 0 1 0 1
CACNA1I 0 0 1 0 1
CACNA1S 1 0 0 0 1
CAD, LOC126806171 0 0 1 0 1
CALM2 0 0 1 0 1
CALM3 0 0 1 0 1
CALN1, LOC132089555 0 0 1 0 1
CAMK2G 1 0 0 0 1
CAMTA1, LOC126805603 0 0 1 0 1
CAP2 0 0 1 0 1
CAPRIN1 0 0 1 0 1
CARD11 0 0 1 0 1
CARD14 0 0 1 0 1
CARD14, SGSH 0 0 1 0 1
CARS2 0 0 1 0 1
CASR 0 0 1 0 1
CASZ1 0 0 1 0 1
CATIP, PNKD 0 0 1 0 1
CBS 0 0 1 0 1
CCDC30, PPCS 0 1 0 0 1
CCM2 0 0 1 0 1
CCNB1IP1, KLHL33, LOC126861878, LOC126861879, LOC129390612, LOC129390613, LOC130055244, LOC130055245, LOC130055246, LOC130055247, LOC130055248, OR11G2, OR11H4, OR11H6, OR11H7, OR4K13, OR4K14, OR4K17, OR4L1, OR4N5, PARP2, RPPH1, SNORA79B, SNORD126, TEP1, TTC5 0 0 1 0 1
CCR9, LZTFL1 0 0 1 0 1
CCSER1, LOC121725178, LOC126807110 0 0 1 0 1
CD274, ERMP1, INCR1, INSL4, INSL6, JAK2, LOC107882132, LOC111465019, LOC114022704, LOC121811698, LOC124210612, LOC126860566, LOC126860567, LOC126860568, LOC130001496, LOC130001497, LOC130001498, LOC130001499, LOC130001500, LOC130001501, LOC130001502, LOC130001503, LOC130001504, LOC130001505, LOC130001506, LOC130001507, LOC130001508, LOC130001509, LOC130001510, LOC130001511, LOC130001512, LOC130001513, LOC130001514, LOC130001515, LOC130001516, LOC130001517, LOC130001518, LOC130001519, LOC130001520, LOC130001521, LOC130001522, LOC130001523, PDCD1LG2, PLGRKT, RIC1, RLN1, RLN2 0 0 1 0 1
CD3G, LOC126861358 0 0 1 0 1
CD79A 0 0 1 0 1
CDC42, CELA3A, LINC00339, LINC01635, LOC120893122, LOC129929630, LOC129929631, LOC129929632, LOC129929633, LOC129929634, LOC132088665 0 0 1 0 1
CDC42BPB, LOC126862066 0 0 1 0 1
CDK13, LOC129998292 0 0 1 0 1
CDK16 0 0 1 0 1
CDK19 0 0 1 0 1
CDK8 0 0 1 0 1
CDKL4, MAP4K3, SOS1 0 0 1 0 1
CDSN, PSORS1C1 0 0 1 0 1
CEBPE 0 0 1 0 1
CELSR1 0 0 1 0 1
CEP120 0 1 0 0 1
CEP135 0 1 0 0 1
CEP152 0 1 0 0 1
CEP19 0 0 1 0 1
CEP19, DLG1, DYNLT2B, FBXO45, LINC00885, LINC01063, LINC01983, LOC112935924, LOC115995537, LOC115995538, LOC121048736, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC124906253, LOC126806932, LOC126806933, LOC126806934, LOC129389195, LOC129389196, LOC129938246, LOC129938247, LOC129938248, LOC129938249, LOC129938250, LOC129938251, LOC129938252, LOC129938253, LOC129938254, LOC129938255, LOC129938256, LOC129938257, LOC129938258, LOC129938259, LOC129938260, LOC129938261, LOC129938262, LOC129938263, LOC129938264, LOC129938265, LOC129938266, LOC129938267, LOC129938268, LOC129938269, LOC129938270, LOC129938271, LOC129938272, LOC129938273, LOC129938274, LOC129938275, LOC129938276, LOC129938277, LOC129938278, LOC129938279, LOC129938280, LOC129938281, LOC129938282, LOC129938283, LOC129938284, LOC129938285, LOC129938286, LOC129938287, LOC129938288, LOC129938289, LOC129938290, LOC129938291, LOC129938292, LOC129938293, LOC129938294, LOC129938295, LOC129938296, LOC129938297, LOC129938298, LOC129938299, LOC129938300, LOC129938301, LOC129938302, LOC129938303, LOC129938304, LOC129938305, LOC129938306, LOC129938307, LOC129938308, LOC129938309, LOC129938310, LOC129938311, LOC129938312, LOC129938313, MELTF, MIR4797, MIR6829, NCBP2, NCBP2AS2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TM4SF19-DYNLT2B, TNK2, UBXN7, WDR53, ZDHHC19 1 0 0 0 1
CEP85L 0 0 1 0 1
CERT1 0 1 0 0 1
CERT1, POLK 0 0 1 0 1
CFHR5 0 0 1 0 1
CFTR 1 0 0 0 1
CFTR, LOC111674475 1 0 0 0 1
CHD1L 0 0 1 0 1
CHD3, LOC126862484 0 0 1 0 1
CHD3, NAA38 0 0 1 0 1
CHD7, LOC126860403 0 0 1 0 1
CHMP1A 1 0 0 0 1
CHRM3 0 0 1 0 1
CHRNA7, LOC125078053, LOC129390681, LOC130056727, OTUD7A 0 0 1 0 1
CHRNB1 0 0 1 0 1
CHRND 0 1 0 0 1
CHRNE 1 0 0 0 1
CHRNG 0 0 1 0 1
CIT 0 0 1 0 1
CLCN2 0 0 1 0 1
CLEC12A, CLEC2A, KLRF2, LINC02470, LOC126861446, LOC129390396 0 0 1 0 1
CLEC3A, LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC126862410, LOC126862411, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090888, VAT1L, WWOX 0 0 1 0 1
CLPB, LOC126861258 0 0 1 0 1
CMPK2, GRASLND, LINC00487, LINC01246, LINC01247, LINC01824, LINC03156, LOC101929452, LOC111811968, LOC120961741, LOC122710287, LOC122710288, LOC126806117, LOC126806118, LOC126806119, LOC126806120, LOC126806121, LOC126806122, LOC129933013, LOC129933014, LOC129933015, LOC129933016, LOC129933017, LOC129933018, LOC129933019, LOC129933020, LOC129933021, LOC129933022, LOC129933023, LOC129933024, LOC132088849, MIR7515, NRIR, RNF144A, RSAD2 0 0 1 0 1
CNE-2, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, LOC107652445, LOC108251802, LOC108251803, SHOX 0 0 1 0 1
CNTN4 0 0 1 0 1
CNTN5 0 0 1 0 1
CNTN6 0 0 1 0 1
CNTN6, LINC01266, LOC126806587, LOC129936035 0 0 1 0 1
COASY, LOC130060908 0 0 1 0 1
COG2 0 1 0 0 1
COG8 0 0 1 0 1
COL18A1, SLC19A1 0 0 1 0 1
COL2A1 0 0 1 0 1
COL3A1 0 1 0 0 1
COL4A3, MFF-DT 0 1 0 0 1
COL5A1 0 0 1 0 1
COL5A1, LOC101448202 0 0 1 0 1
COL6A3 0 1 0 0 1
COQ4 0 1 0 0 1
COQ6, ENTPD5 0 1 0 0 1
COX15 0 0 1 0 1
COX20 0 0 1 0 1
CPT2, LOC129930561 1 0 0 0 1
CR2 0 0 1 0 1
CR2, LOC126805994 0 0 1 0 1
CRB2 0 1 0 0 1
CRYM 0 0 1 0 1
CSDE1 0 0 1 0 1
CSF1R 0 0 1 0 1
CSNK1G1 0 0 1 0 1
CSPP1 1 0 0 0 1
CSTB 0 0 1 0 1
CSTF3, DEPDC7, LINC00294, LOC126861177, LOC130005490, LOC130005491, LOC130005492, LOC130005493, LOC130005494, LOC130005495, QSER1, TCP11L1 0 0 1 0 1
CTBP1 1 0 0 0 1
CTLA4 0 0 1 0 1
CTNNB1 1 0 0 0 1
CTNND2 0 0 1 0 1
CTNND2, LOC126807316 0 0 1 0 1
CTSA 0 1 0 0 1
CTSD 0 0 1 0 1
CUL3 0 0 1 0 1
CUTA 0 0 1 0 1
CYBB 0 0 1 0 1
CYFIP1, GOLGA6L1, GOLGA6L22, GOLGA6L26, GOLGA8S, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC283683, MIR4509-1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L26, GOLGA8S, LOC112272575, LOC112272576, LOC126862074, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC283683, MIR4509-1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 0 0 1 0 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
CYLD, NOD2 0 0 1 0 1
CYP21A2, LOC106780800 1 0 0 0 1
CYP27A1 1 0 0 0 1
CYP2E1, ECHS1, FUOM, LOC110599585, LOC124416936, LOC126861107, LOC129390242, LOC130005020, LOC130005021, LOC130005022, LOC130005023, LOC130005024, LOC130005025, LOC130005026, LOC130005027, LOC130005028, LOC130005029, LOC130005030, LOC130005031, LOC130005032, LOC130005033, LOC130005034, LOC130005035, LOC130005036, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SYCE1, ZNF511-PRAP1 0 0 1 0 1
DAG1 0 0 1 0 1
DALRD3 0 0 1 0 1
DBH 1 0 0 0 1
DCLK1, LINC00445, LOC126861739, LOC126861740, LOC130009567, LOC130009568, NBEA 0 0 1 0 1
DCLRE1C 0 0 1 0 1
DCN 0 0 1 0 1
DDR1, GTF2H4, HCG21, LOC126859646, LOC126859647, MIR4640, MUC21, MUCL3, SFTA2, VARS2 0 0 1 0 1
DDX10 0 0 1 0 1
DDX10, LOC130006712 0 0 1 0 1
DDX23 0 0 1 0 1
DDX27, KCNB1, LOC112694720, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1 0 0 1 0 1
DDX3X 0 0 1 0 1
DDX6 0 0 1 0 1
DDX6, LOC130006858 0 0 1 0 1
DEPDC7 0 0 1 0 1
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 1
DES, LOC110121267, LOC126806518, SPEG 0 0 1 0 1
DGAT1 0 0 1 0 1
DGCR2 0 0 1 0 1
DHCR24 0 0 1 0 1
DHX16 0 0 1 0 1
DIAPH1, LOC129994866, LOC129994867 0 1 0 0 1
DIP2B 0 0 1 0 1
DISP1 0 0 1 0 1
DLG3 0 0 1 0 1
DLL1, LOC126859913 0 0 1 0 1
DMP1, DSPP 0 0 1 0 1
DNAH1 0 1 0 0 1
DNAJC12 1 0 0 0 1
DNAJC5 0 0 1 0 1
DOC2B, LIAT1, RFLNB, RPH3AL, VPS53 0 0 1 0 1
DOCK3 0 0 1 0 1
DOP1A, PGM3 0 1 0 0 1
DOP1B 0 0 1 0 1
DPF2 0 0 1 0 1
DPYD 0 1 0 0 1
DPYS 0 1 0 0 1
DRD2 0 0 1 0 1
DTNA 0 0 1 0 1
DYM 0 1 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 1
EBF3 0 0 1 0 1
ECE1 0 0 1 0 1
EEF1D 0 0 1 0 1
EHMT1, LOC124375254, LOC130003138, LOC130003139 0 1 0 0 1
EIF2AK1 0 0 1 0 1
EIF2B1 0 0 1 0 1
EIF4A2 0 0 1 0 1
ELN 0 0 1 0 1
ENDOV, LOC130061908, MIR4730, RNF213 0 0 1 0 1
ENG 1 0 0 0 1
EP300, LOC126863158 0 0 1 0 1
EPB41L1 0 0 1 0 1
EPM2A 0 0 1 0 1
EPM2A, EPM2A-DT, LOC129997381 0 0 1 0 1
ERCC6L2 0 0 1 0 1
EXOC2, HUS1B 0 0 1 0 1
EXOC3L2 0 1 0 0 1
EXOC3L4 0 0 1 0 1
EXOC7, ZACN 0 0 1 0 1
EXOSC3 1 0 0 0 1
EXOSC5 0 0 1 0 1
EXT2 0 0 1 0 1
EXTL3 0 1 0 0 1
EYA1 0 0 1 0 1
EYA4 0 0 1 0 1
EZH2 0 0 1 0 1
F11 0 1 0 0 1
F8 1 0 0 0 1
FAAH2 0 0 1 0 1
FANCC 1 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 1
FAS 0 0 1 0 1
FBLIM1 0 0 1 0 1
FBN2 0 0 1 0 1
FBRSL1 0 0 1 0 1
FBXO11, MSH6 0 0 1 0 1
FBXO28 0 0 1 0 1
FDFT1 0 1 0 0 1
FGD1 1 0 0 0 1
FGF3 0 0 1 0 1
FH 0 0 1 0 1
FLNA, LOC107988032 0 0 1 0 1
FMR1 0 0 1 0 1
FOXA2 0 1 0 0 1
FOXC2 0 1 0 0 1
FOXF1 1 0 0 0 1
FOXN1 0 0 1 0 1
FOXP3 0 0 1 0 1
FOXRED1 1 0 0 0 1
FREM1 0 0 1 0 1
FRYL 0 0 1 0 1
FTO 0 0 1 0 1
FXYD2, FXYD6-FXYD2 0 0 1 0 1
FZD2 0 0 1 0 1
G6PD, IKBKG 0 0 1 0 1
GAB1, LOC126807172 0 0 1 0 1
GABRA4 0 0 1 0 1
GABRA5 0 0 1 0 1
GABRB1 0 0 1 0 1
GABRE 0 0 1 0 1
GALC, LOC132090288 0 1 0 0 1
GALNT11, KMT2C, LOC123956272, LOC126860227, LOC129389938, LOC129999675 1 0 0 0 1
GALNT2 0 0 1 0 1
GAREM2, HADHA 1 0 0 0 1
GAS7, LOC112529894, LOC121852922, LOC126862491, LOC126862492, LOC126862493, LOC126862494, LOC126862495, LOC126862496, LOC126862497, LOC126862498, LOC126862499, LOC130060292, LOC130060293, LOC130060294, MYH1, MYH13, MYH4, MYH8, MYHAS 0 0 1 0 1
GATA6 0 0 1 0 1
GATAD1 0 0 1 0 1
GATM 0 0 1 0 1
GCH1 0 0 1 0 1
GDF2 0 0 1 0 1
GEMIN4 0 0 1 0 1
GFM1, LXN, MLF1, RARRES1 0 0 1 0 1
GFPT1 1 0 0 0 1
GGA2 0 0 1 0 1
GGCX 0 1 0 0 1
GGNBP2, MYO19, PIGW, ZNHIT3 0 0 1 0 1
GHR 0 0 1 0 1
GHRL, GHRLOS 0 0 1 0 1
GIGYF1 0 0 1 0 1
GJA1 0 1 0 0 1
GJA3 0 1 0 0 1
GK 0 0 1 0 1
GLUD1, SHLD2 0 0 1 0 1
GMPPB 1 0 0 0 1
GNAI1 0 0 1 0 1
GNB2 0 0 1 0 1
GNE 0 0 1 0 1
GPAA1 0 0 1 0 1
GPHN 0 1 0 0 1
GRHL3 0 1 0 0 1
GRIA2 0 0 1 0 1
GRIA3, LOC110121198, LOC126863316, LOC129391312, LOC130068627, LOC130068628, LOC130068629, LOC130068630, LOC130068631, LOC130068632, LOC130068633, SH2D1A, STAG2, TENM1, TEX13D, THOC2, XIAP 1 0 0 0 1
GRIN1 0 0 1 0 1
GRIN2A, LOC130058418 0 1 0 0 1
GRIP1 0 0 1 0 1
GRM4 0 0 1 0 1
GRN 1 0 0 0 1
GRPR, LOC121627961, LOC126863215, LOC126863216, LOC130067986, LOC130067987, LOC130067988, MAGEB17 0 0 1 0 1
GSN 0 0 1 0 1
GTF2IRD1 0 0 1 0 1
GUCY2C 0 0 1 0 1
GUCY2C, PLBD1 0 0 1 0 1
GUF1 0 1 0 0 1
GUSB 1 0 0 0 1
GYG2 0 0 1 0 1
GYS1 0 0 1 0 1
GYS2, LOC126861480 0 1 0 0 1
H1-4 0 0 1 0 1
HCN1, LOC126807381, LOC126807382 0 0 1 0 1
HDAC4 0 0 1 0 1
HDAC5, LOC105371789 0 0 1 0 1
HDAC8 0 0 1 0 1
HECTD1 0 0 1 0 1
HEXA 1 0 0 0 1
HEXB 0 1 0 0 1
HIVEP3 0 0 1 0 1
HMBS 0 0 1 0 1
HMGB1 0 0 1 0 1
HMGCS2 0 1 0 0 1
HNRNPR 0 0 1 0 1
HRAS, LRRC56 0 0 1 0 1
HRC, LOC130064904, PPFIA3, TRPM4 0 0 1 0 1
HSALR1, PIEZO1 0 1 0 0 1
HSD17B10 0 1 0 0 1
HSD3B7 0 0 1 0 1
HTRA1 0 0 1 0 1
HUWE1, LOC126863263 0 0 1 0 1
HYI, SZT2 0 0 1 0 1
IARS1 0 0 1 0 1
IER3IP1 0 0 1 0 1
IFNAR2, IFNAR2-IL10RB 0 0 1 0 1
IFT140 0 0 1 0 1
IGDCC4 0 0 1 0 1
IGF1, LINC02456 0 0 1 0 1
IGF1R 0 0 1 0 1
IGSF1 0 0 1 0 1
IKBKG 0 0 1 0 1
IL2RA 0 0 1 0 1
IL6ST 0 0 1 0 1
ILK, TAF10 0 0 1 0 1
INAVA 0 0 1 0 1
INO80 0 0 1 0 1
INTU, LOC126807151 0 1 0 0 1
IQCG, LOC107133517, LOC126806937, LOC126806938, LOC129938327, LOC129938328, LRCH3 0 0 1 0 1
IQSEC1 0 0 1 0 1
IRX5 0 0 1 0 1
ITIH6 0 0 1 0 1
ITPA 0 0 1 0 1
ITPR3 0 0 1 0 1
IVD 0 1 0 0 1
IVNS1ABP 0 0 1 0 1
JADE2 0 0 1 0 1
JAG1 1 0 0 0 1
JAK1 0 0 1 0 1
JPH2 0 0 1 0 1
KAT5 0 0 1 0 1
KAT8 0 0 1 0 1
KCNA5 0 0 1 0 1
KCNAB2 0 0 1 0 1
KCNC3 0 0 1 0 1
KCND2 0 0 1 0 1
KCND3 0 0 1 0 1
KCNJ2, LOC130061539 0 0 1 0 1
KCNJ4 0 0 1 0 1
KCNJ6 0 0 1 0 1
KCNK18 0 0 1 0 1
KCNMA1, LOC130004139 0 0 1 0 1
KCNN2 0 0 1 0 1
KCNQ3, LOC114827840 0 0 1 0 1
KCNQ5, KCNQ5-DT 0 0 1 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 1
KCTD7 0 1 0 0 1
KDM4B 0 1 0 0 1
KDM5A, LOC126861410 0 0 1 0 1
KDM5B, LOC129932249 0 0 1 0 1
KDM6B, LOC121587574 0 0 1 0 1
KIF21B, LOC126805976 0 0 1 0 1
KIF26B 0 0 1 0 1
KIF2A 0 0 1 0 1
KIF4A 0 0 1 0 1
KIF5C 0 0 1 0 1
KIF9, LOC129936664, LOC129936665, LOC129936666, SETD2 0 0 1 0 1
KIRREL3 0 0 1 0 1
KLF13 0 0 1 0 1
KLF7 0 0 1 0 1
KLKB1 0 0 1 0 1
KMT2C, LINC01003, LOC123956272, LOC123956273, LOC129389938, LOC129999676, LOC129999677, LOC129999678, LOC129999679, LOC129999680, LOC129999681, LOC129999682, LOC129999683, LOC129999684 0 0 1 0 1
KPTN 0 1 0 0 1
KRT6A 0 0 1 0 1
KRTAP1-3 0 0 1 0 1
L1CAM 0 1 0 0 1
LAGE3 0 0 1 0 1
LAGE3, LOC130068876 0 0 1 0 1
LAMA4 0 0 1 0 1
LAMC3, LOC126860777 0 0 1 0 1
LAS1L, LOC113875034, LOC130068375, ZC3H12B 0 0 1 0 1
LAT 0 0 1 0 1
LCAT, SLC12A4 0 0 1 0 1
LDLR, MIR6886 0 1 0 0 1
LDLRAP1, LOC129929773 0 0 1 0 1
LIG4 0 0 1 0 1
LIN7B 0 0 1 0 1
LINC02385, LOC111413045, LOC124646392, LOC130008603, LOC130008604, LOC132089979, LOC132089980, LOC132089981, LOC132089982, LOC132089983, LOC132089984, LOC132089985, LOC132089986, LOC132090857, NFYB, TXNRD1 0 0 1 0 1
LINGO1 0 0 1 0 1
LMBRD2 0 0 1 0 1
LMF1, LOC130058141 0 0 1 0 1
LMNB2 0 0 1 0 1
LNCR-SMAL, LOC126859871, PACRG, PRKN 0 0 1 0 1
LOC100507346, PTCH1 0 0 1 0 1
LOC101927055, TTN 0 0 1 0 1
LOC105370589, NRXN3 0 0 1 0 1
LOC108167315, POMC 0 0 1 0 1
LOC110120747, RANBP17 0 0 1 0 1
LOC110121269, SCN5A 0 0 1 0 1
LOC110121306, LOC120908906, LOC122152293, LOC122152294, LOC126806005, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, PROX1, PTPN14, SMYD2 0 0 1 0 1
LOC113783876, VPS13B 0 0 1 0 1
LOC113788277, PLPBP 0 0 1 0 1
LOC113875008, OCRL 0 0 1 0 1
LOC114803470, SCN8A 0 0 1 0 1
LOC121530581, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LYSMD2, SCG3, TMOD2 0 0 1 0 1
LOC121530590, LOC125110355, LOC126862169, LOC130057452, LOC130057453, THSD4 0 1 0 0 1
LOC121852963, RNF125 0 0 1 0 1
LOC123522803, STING1 0 0 1 0 1
LOC124819399, LOC130008747, RAD9B, VPS29 0 0 1 0 1
LOC125146396, LOC126862276, LOC126862277, LOC129390761, LOC129390762, LOC132090399, RBFOX1 0 0 1 0 1
LOC125467768, PCDH19 0 0 1 0 1
LOC126806068, RYR2 0 0 1 0 1
LOC126806421, TTN 0 0 1 0 1
LOC126806422, TTN 0 0 1 0 1
LOC126806424, TTN 0 0 1 0 1
LOC126806429, TTN 0 0 1 0 1
LOC126806430, TTN 0 0 1 0 1
LOC126806878, TBL1XR1 0 0 1 0 1
LOC126807101, WDFY3 0 0 1 0 1
LOC126807526, MATR3 0 0 1 0 1
LOC126859771, RFX6 0 0 1 0 1
LOC126860130, RELN, SLC26A5 0 0 1 0 1
LOC126860260, NCAPG2 0 0 1 0 1
LOC126860794, NOTCH1 0 0 1 0 1
LOC126861106, TUBGCP2 0 0 1 0 1
LOC126861242, NDUFV1 0 0 1 0 1
LOC126861412, LOC130007152, RAD52, WNK1 0 0 1 0 1
LOC126861615, PAH 1 0 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 1
LOC126861898, MYH7 0 1 0 0 1
LOC126862482, POLR2A 0 0 1 0 1
LOC126862546, SYNRG 0 0 1 0 1
LOC126863137, MYH9 0 0 1 0 1
LOC126863275, MED12 0 1 0 0 1
LOC126863330, RBMX 0 0 1 0 1
LOC127407129, RFX6 0 0 1 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 1
LOC129390413, SOX5 0 1 0 0 1
LOC129391106, RYR1 0 0 1 0 1
LOC129930156, SNIP1 0 0 1 0 1
LOC129933280, POMC 0 0 1 0 1
LOC129934069, SPR 0 0 1 0 1
LOC129934328, STARD7 0 0 1 0 1
LOC129935594, PNKD 0 0 1 0 1
LOC129936459, TRANK1 0 0 1 0 1
LOC129936665, SETD2 0 0 1 0 1
LOC129998021, TWIST1 0 0 1 0 1
LOC129999056, PMPCB 0 1 0 0 1
LOC130003078, LOC130003079, MAN1B1 0 0 1 0 1
LOC130005807, MYRF 0 1 0 0 1
LOC130006027, LTBP3 0 0 1 0 1
LOC130008058, SMARCC2 0 0 1 0 1
LOC130008987, ORAI1 0 0 1 0 1
LOC130009157, SCARB1 0 0 1 0 1
LOC130009366, SACS 0 0 1 0 1
LOC130056175, POMT2 0 1 0 0 1
LOC130058907, SLC5A2 1 0 0 0 1
LOC130060153, TNFSF12, TNFSF12-TNFSF13 0 0 1 0 1
LOC130064281, SDHAF1 0 0 1 0 1
LOC130064467, SPTBN4 0 0 1 0 1
LOC130065955, MATN4 0 0 1 0 1
LOC130065980, SLC12A5 0 0 1 0 1
LOC130066885, PRMT2 0 0 1 0 1
LOC130067862, SCO2, TYMP 0 0 1 0 1
LOC130068460, MAGT1 0 0 1 0 1
LONP1 0 0 1 0 1
LONP2, SIAH1 0 1 0 0 1
LRP1B 0 0 1 0 1
LRP4 0 0 1 0 1
LRP5 0 0 1 0 1
LRP6 0 0 1 0 1
LTBP1 0 0 1 0 1
LTBP2 0 0 1 0 1
LZTFL1 0 0 1 0 1
MAG 0 0 1 0 1
MAK16, TTI2 0 1 0 0 1
MAN2B1 1 0 0 0 1
MANBA 0 0 1 0 1
MAP3K15, PDHA1 0 0 1 0 1
MAP3K7 0 0 1 0 1
MAPK8IP1 0 0 1 0 1
MARCHF6 0 0 1 0 1
MARS1 0 0 1 0 1
MAST3 0 0 1 0 1
MCM4 0 0 1 0 1
MDGA2 0 0 1 0 1
MDH2 0 0 1 0 1
MDM4 0 0 1 0 1
MEA1, PPP2R5D 1 0 0 0 1
MECOM 0 0 1 0 1
MED12 0 0 1 0 1
MED12L, P2RY12 0 0 1 0 1
MED23 0 0 1 0 1
MEF2D 0 0 1 0 1
MEFV 1 0 0 0 1
MEN1 1 0 0 0 1
METTL23 1 0 0 0 1
MFSD8 0 0 1 0 1
MMP9 0 0 1 0 1
MOV10 0 0 1 0 1
MRPL36, NDUFS6 0 0 1 0 1
MRPS2 0 0 1 0 1
MSH6 1 0 0 0 1
MSS51 0 0 1 0 1
MT-CYB 0 1 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 1
MT-ND3 0 0 1 0 1
MT-RNR1, MT-TS1 0 1 0 0 1
MT-TI 0 0 1 0 1
MT-TL1 1 0 0 0 1
MTRR 0 0 1 0 1
MVD 0 0 1 0 1
MYBPC1 1 0 1 0 1
MYH11 0 0 1 0 1
MYH11, NDE1 0 0 1 0 1
MYH14 0 0 1 0 1
MYL3 0 0 1 0 1
MYL4 0 0 1 0 1
MYLIP 0 0 1 0 1
MYLK 0 0 1 0 1
MYLK3 0 0 1 0 1
MYO18B 0 0 1 0 1
MYO19, PIGW 0 1 0 0 1
MYO3A 0 0 1 0 1
MYO6 0 0 1 0 1
MYO9A 0 0 1 0 1
NARS2 0 1 0 0 1
NAT10 0 0 1 0 1
NBEAL1 0 0 1 0 1
NBEAL2 0 0 1 0 1
NCAPG2 0 0 1 0 1
NCF4 0 0 1 0 1
NCSTN 0 0 1 0 1
NDST1 0 0 1 0 1
NDUFA10 0 0 1 0 1
NDUFA6 0 0 1 0 1
NDUFA9 0 1 0 0 1
NDUFAF1 0 0 1 0 1
NDUFS7 0 0 1 0 1
NEB 0 0 1 0 1
NEB, RIF1 0 0 1 0 1
NECAP1 0 0 1 0 1
NEMF 0 0 1 0 1
NEUROD1 0 0 1 0 1
NFAT5 0 0 1 0 1
NFKB1 0 1 0 0 1
NGLY1 0 0 1 0 1
NHEJ1 0 0 1 0 1
NKAP 0 0 1 0 1
NLGN1 0 0 1 0 1
NLGN2 0 0 1 0 1
NLGN3 0 0 1 0 1
NLRP2 0 0 1 0 1
NLRP3 0 0 1 0 1
NOMO3 0 0 1 0 1
NPHP3-ACAD11, UBA5 1 0 0 0 1
NR5A1 1 0 0 0 1
NRAP 0 0 1 0 1
NRAS 1 0 0 0 1
NRXN3 0 0 1 0 1
NSUN2 0 0 1 0 1
NT5C3A 0 0 1 0 1
NUP155 0 0 1 0 1
OBSCN 0 0 1 0 1
OCRL 0 0 1 0 1
ODAD4 0 0 1 0 1
OPHN1 0 0 1 0 1
OTUD5 0 0 1 0 1
OTUD7A 0 0 1 0 1
OXR1 0 0 1 0 1
PAFAH1B1 0 0 1 0 1
PAK3 0 0 1 0 1
PARN 0 1 0 0 1
PAX1 0 0 1 0 1
PAX3 0 0 1 0 1
PCDH12, RNF14 0 0 1 0 1
PCDHB4, PCDHB@ 0 0 1 0 1
PCGF2 0 0 1 0 1
PDE10A 0 0 1 0 1
PDE11A 0 0 1 0 1
PDE2A 0 1 0 0 1
PDGFRB 0 0 1 0 1
PDHX 0 0 1 0 1
PDIA2 0 0 1 0 1
PDK3 0 0 1 0 1
PEPD 0 0 1 0 1
PER2 0 0 1 0 1
PER3 0 0 1 0 1
PEX12 0 1 0 0 1
PGAP3 0 0 1 0 1
PGLYRP3 0 0 1 0 1
PGM3 0 0 1 0 1
PHF6 0 0 1 0 1
PHKB 0 0 1 0 1
PIGA 0 0 1 0 1
PIGB 0 1 0 0 1
PIGN 0 0 1 0 1
PIGQ 0 0 1 0 1
PIGU 0 1 0 0 1
PIGV 0 0 1 0 1
PIK3CA 0 0 1 0 1
PIK3CD 0 0 1 0 1
PITX1 0 0 1 0 1
PLAA 0 0 1 0 1
PLCG2 0 0 1 0 1
PLCH2 0 0 1 0 1
PLOD1 0 0 1 0 1
PLXNA2 0 0 1 0 1
PLXNB3 0 0 1 0 1
PLXND1 0 0 1 0 1
PMS2 1 0 0 0 1
PNPLA1 1 0 0 0 1
POLA1 0 0 1 0 1
POLG, POLGARF 0 0 1 0 1
POLR2F, SOX10 0 0 1 0 1
POLR3B, RFX4 0 0 1 0 1
PPIL1 0 0 1 0 1
PPM1D 0 0 1 0 1
PPOX 0 0 1 0 1
PPP1R13L 0 0 1 0 1
PPP1R35 0 0 1 0 1
PPP2R1A 0 0 1 0 1
PRDM6 0 0 1 0 1
PRDM8 0 0 1 0 1
PRF1 1 0 0 0 1
PRKDC 0 0 1 0 1
PROS1 0 1 0 0 1
PRPF19 0 0 1 0 1
PRSS12 0 0 1 0 1
PSMG2 0 0 1 0 1
PSPH 0 1 0 0 1
PTEN 1 0 0 0 1
PTPN4 0 0 1 0 1
PTPRD 0 0 1 0 1
PTPRO 0 0 1 0 1
PTPRT 0 0 1 0 1
PTS 0 0 1 0 1
RAB39B 0 0 1 0 1
RAB3GAP2 0 0 1 0 1
RAD21 0 0 1 0 1
RAF1, TMEM40 0 0 1 0 1
RAPGEF2 0 0 1 0 1
RASA1 0 0 1 0 1
RC3H1 0 0 1 0 1
RC3H2 0 0 1 0 1
RECQL4 1 0 0 0 1
RELA 0 0 1 0 1
RELN, SLC26A5 0 0 1 0 1
RET 1 0 0 0 1
RFX3 0 0 1 0 1
RFX6 0 0 1 0 1
RFXANK 0 0 1 0 1
RIGI 0 0 1 0 1
RIT1 0 0 1 0 1
RMND1 0 0 1 0 1
RNASEH2A 1 0 0 0 1
RNASET2 0 1 0 0 1
RNF125 0 0 1 0 1
RORC 0 0 1 0 1
RPGRIP1L 0 0 1 0 1
RPL10L 0 0 1 0 1
RPS6KA3 0 0 1 0 1
RYK 0 0 1 0 1
SACS 0 0 1 0 1
SALL1 0 0 1 0 1
SAMD12 0 0 1 0 1
SAMHD1 0 0 1 0 1
SAMHD1, TLDC2 0 0 1 0 1
SASS6 0 1 0 0 1
SATB1 0 0 1 0 1
SBDS 1 0 0 0 1
SCAF4 0 0 1 0 1
SCAPER 0 0 1 0 1
SCARB2 0 0 1 0 1
SCN1B 0 0 1 0 1
SCN4B 0 0 1 0 1
SCNN1B 0 0 1 0 1
SCNN1G 0 0 1 0 1
SDHB 0 1 0 0 1
SDHC 1 0 0 0 1
SDHD 1 0 0 0 1
SEC61A1 0 0 1 0 1
SEMA5A 0 0 1 0 1
SEPSECS 0 1 0 0 1
SEPTIN11 0 0 1 0 1
SEPTIN9 0 0 1 0 1
SERAC1 0 0 1 0 1
SERPINI1 0 0 1 0 1
SET 0 0 1 0 1
SETX 0 0 1 0 1
SF3B4 0 0 1 0 1
SFTPC 0 1 0 0 1
SGCE 0 0 1 0 1
SGSH 0 0 1 0 1
SH3BP2 0 0 1 0 1
SH3TC2 0 0 1 0 1
SHOC2 0 0 1 0 1
SI 0 0 1 0 1
SIX1 0 0 1 0 1
SIX3 1 0 0 0 1
SKIC3 0 0 1 0 1
SLC12A3 0 1 0 0 1
SLC13A5 0 0 1 0 1
SLC16A2 0 0 1 0 1
SLC18A2 0 0 1 0 1
SLC19A3 0 0 1 0 1
SLC1A2 0 0 1 0 1
SLC1A4 1 0 0 0 1
SLC20A2 0 0 1 0 1
SLC25A19 0 0 1 0 1
SLC29A3 0 0 1 0 1
SLC30A3 0 0 1 0 1
SLC45A4 0 0 1 0 1
SLC4A1 0 0 1 0 1
SLC4A3 0 0 1 0 1
SLC6A20 0 0 1 0 1
SLC6A8 1 0 0 0 1
SLC9A3 0 0 1 0 1
SLC9A9 0 0 1 0 1
SMAD2 0 0 1 0 1
SMAD9 0 0 1 0 1
SMARCA1 0 0 1 0 1
SMARCD1 0 0 1 0 1
SMU1 0 0 1 0 1
SNAP25 0 0 1 0 1
SNAP29 0 1 0 0 1
SNHG14, UBE3A 0 0 1 0 1
SNRPB 0 1 0 0 1
SNX25 0 0 1 0 1
SORBS1 0 0 1 0 1
SOX17 0 0 1 0 1
SOX6 0 0 1 0 1
SPAST 0 0 1 0 1
SPG7 1 0 0 0 1
SPPL2A 0 0 1 0 1
SPTA1 0 0 1 0 1
SRGAP2 0 0 1 0 1
SRPX2 0 0 1 0 1
SRRM2 0 0 1 0 1
SSR4 0 0 1 0 1
ST3GAL5 0 0 1 0 1
STAG2 0 1 0 0 1
STX1B 0 0 1 0 1
STYXL1 0 0 1 0 1
SUFU 0 1 0 0 1
SURF1 0 0 1 0 1
SYNE1 0 0 1 0 1
SYNJ1 0 0 1 0 1
TAF1C 0 0 1 0 1
TBC1D32 0 0 1 0 1
TBCK 1 0 0 0 1
TCAP 0 0 1 0 1
TCOF1 1 0 0 0 1
TEK 0 1 0 0 1
TERT 0 0 1 0 1
TFE3 0 0 1 0 1
TGFB1 0 0 1 0 1
TGFB3 0 0 1 0 1
TGFBI 1 0 0 0 1
TGM6 0 0 1 0 1
THADA 0 0 1 0 1
THAP1 0 0 1 0 1
THOC2 0 0 1 0 1
THRB 0 0 1 0 1
THSD7A 0 0 1 0 1
TK2 0 1 0 0 1
TLL1 0 0 1 0 1
TLR7 0 0 1 0 1
TMEM127 0 1 0 0 1
TMEM201 0 0 1 0 1
TMEM231 0 0 1 0 1
TMEM63A 0 0 1 0 1
TMEM63B 0 0 1 0 1
TMEM67 0 0 1 0 1
TMEM94 0 0 1 0 1
TMLHE 0 0 1 0 1
TMX2, TMX2-CTNND1 0 0 1 0 1
TNIK 0 0 1 0 1
TNNC1 0 0 1 0 1
TNNT3 1 0 0 0 1
TOPBP1 0 0 1 0 1
TPBG 0 0 1 0 1
TRAPPC11 0 0 1 0 1
TRAPPC2L 0 0 1 0 1
TRAPPC4 0 0 1 0 1
TRAPPC6B 0 0 1 0 1
TRDN 0 0 1 0 1
TRIM8 0 0 1 0 1
TRMT1 0 0 1 0 1
TRPM6 0 0 1 0 1
TSHR 0 0 1 0 1
TSHZ1 0 0 1 0 1
TTC28 0 0 1 0 1
TTR 1 0 0 0 1
TUBG1 0 0 1 0 1
TUSC3 0 0 1 0 1
TYK2 0 0 1 0 1
TYR 1 0 0 0 1
UBN2 0 0 1 0 1
UCMA 0 0 1 0 1
USH2A 0 0 1 0 1
USP6, ZNF232 0 0 1 0 1
VDR 0 0 1 0 1
VIP 0 0 1 0 1
VPS4A 0 0 1 0 1
VPS50 0 1 0 0 1
VRK2 0 0 1 0 1
WASF1 0 1 0 0 1
WDR4 0 0 1 0 1
WDR45 0 0 1 0 1
WDR45B 0 0 1 0 1
WDR5 0 0 1 0 1
WIPF1 0 0 1 0 1
WNT10A 1 0 0 0 1
XPR1 0 0 1 0 1
YWHAG 0 0 1 0 1
YY1AP1 0 1 0 0 1
ZFHX4 0 0 1 0 1
ZFP57 0 0 1 0 1
ZFPM2 0 1 0 0 1
ZHX3 0 0 1 0 1
ZIC2 0 0 1 0 1
ZIC3 0 1 0 0 1
ZMYM2 0 0 1 0 1
ZNF428 0 0 1 0 1
ZNF711 0 0 1 0 1
ZNHIT3 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1727
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 4 6 235 1 244
See cases 0 2 98 0 100
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2 8 78 0 88
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 4 0 52 0 56
Cohen syndrome 1 3 40 0 44
Alstrom syndrome 0 1 40 0 41
Kabuki syndrome 1 0 0 32 0 32
Kleefstra syndrome 2 1 0 27 0 28
Luscan-Lumish syndrome 0 0 28 0 28
KBG syndrome 2 1 22 0 25
Hypercholesterolemia, familial, 1 7 6 10 0 23
Developmental and epileptic encephalopathy, 18 0 2 20 0 22
Intellectual disability, autosomal dominant 45 0 0 20 0 20
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 1 1 18 0 20
Hyperinsulinemic hypoglycemia, familial, 1 1 0 18 0 19
Hypoalphalipoproteinemia, primary, 1; Tangier disease 0 1 18 0 19
Epilepsy, childhood absence, susceptibility to, 6 0 0 18 0 18
Schaaf-Yang syndrome 0 1 17 0 18
Donnai-Barrow syndrome 0 0 17 0 17
Intellectual disability, autosomal dominant 14 2 0 14 0 16
Lipase deficiency, combined 0 0 16 0 16
Brain small vessel disease 2A, autosomal dominant 0 0 15 0 15
Neonatal diabetes mellitus with congenital hypothyroidism 0 1 14 0 15
Retinal dystrophy and obesity 0 1 14 0 15
Sitosterolemia 2 1 1 13 0 15
Wiedemann-Steiner syndrome 1 2 12 0 15
Coffin-Siris syndrome 1 1 1 12 0 14
Developmental and epileptic encephalopathy, 69 0 0 14 0 14
Intellectual disability, autosomal dominant 13 0 0 14 0 14
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 12 0 14
Lissencephaly 9 with complex brainstem malformation 0 0 14 0 14
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 14 0 14
Type 2 diabetes mellitus 1 0 13 0 14
Developmental and epileptic encephalopathy, 42 0 0 13 0 13
Febrile seizures, familial, 4 0 0 13 0 13
Intellectual disability, autosomal dominant 5 1 0 12 0 13
Intellectual disability, autosomal dominant 52 0 0 13 0 13
Landau-Kleffner syndrome 0 2 11 0 13
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 2 11 0 13
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 12 0 13
Smith-Magenis syndrome 0 0 13 0 13
Snijders Blok-Campeau syndrome 0 2 11 0 13
Sotos syndrome 0 1 12 0 13
Intellectual disability, autosomal dominant 43 0 0 12 0 12
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 12 0 12
Microcephaly 18, primary, autosomal dominant 0 0 12 0 12
Periventricular nodular heterotopia 9 0 1 11 0 12
Sitosterolemia 1 0 0 12 0 12
Autism spectrum disorder due to AUTS2 deficiency 0 1 10 0 11
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 0 0 11 0 11
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 10 0 11
Epilepsy, familial focal, with variable foci 1 0 2 9 0 11
Familial temporal lobe epilepsy 7 0 0 11 0 11
Intellectual developmental disorder with seizures and language delay 1 0 10 0 11
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 0 10 0 11
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 11 0 11
RYR3-related Epileptic encephalopathy 0 0 11 0 11
Beck-Fahrner syndrome 0 0 10 0 10
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 9 0 10
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 9 0 10
Familial renal glucosuria 1 0 9 0 10
Intellectual disability, X-linked syndromic, Turner type 0 1 8 1 10
Intellectual disability, autosomal dominant 9 0 1 9 0 10
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 1 8 0 10
Tuberous sclerosis 2 0 0 10 0 10
Abetalipoproteinaemia 0 0 9 0 9
Bardet-Biedl syndrome 1 1 0 8 0 9
Bardet-Biedl syndrome 9 0 3 6 0 9
CHARGE syndrome 3 0 6 0 9
Coffin-Siris syndrome 8 0 0 9 0 9
Cornelia de Lange syndrome 1 0 2 7 0 9
Developmental and epileptic encephalopathy, 70 1 0 8 0 9
Epilepsy, early-onset, with or without developmental delay 0 0 9 0 9
Hypercholesterolemia, autosomal dominant, 3 0 0 9 0 9
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 8 1 9
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 9 0 9
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I A 0 1 8 0 9
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 9 0 9
Bardet-Biedl syndrome 8 0 0 8 0 8
Congenital generalized lipodystrophy type 1 0 0 8 0 8
Cortical dysplasia-focal epilepsy syndrome 0 1 7 0 8
Developmental and epileptic encephalopathy, 14 1 0 7 0 8
Developmental and epileptic encephalopathy, 46 0 0 8 0 8
Epilepsy with myoclonic atonic seizures 1 1 6 0 8
Familial temporal lobe epilepsy 5; Febrile seizures, familial, 11 0 0 8 0 8
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 1 0 7 0 8
Primary ciliary dyskinesia 3 1 2 5 0 8
Schuurs-Hoeijmakers syndrome 1 0 7 0 8
Weiss-Kruszka syndrome 0 0 8 0 8
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 7 0 7
Arrhythmogenic right ventricular dysplasia 8 1 1 5 0 7
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 6 0 7
Breast-ovarian cancer, familial, susceptibility to, 2 6 1 0 0 7
Clark-Baraitser syndrome 0 0 7 0 7
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 7 0 7
Developmental and epileptic encephalopathy 94 0 3 4 0 7
Developmental and epileptic encephalopathy, 26 1 1 5 0 7
Developmental and epileptic encephalopathy, 64 0 0 7 0 7
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus 0 0 7 0 7
Dystonia 28, childhood-onset 0 1 6 0 7
Epilepsy, familial focal, with variable foci 3 0 1 6 0 7
Generalized epilepsy with febrile seizures plus, type 7 0 0 7 0 7
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 4 2 1 0 7
Intellectual developmental disorder 61 0 0 7 0 7
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 1 6 0 7
Intellectual disability, autosomal dominant 29 0 0 7 0 7
Intellectual disability, autosomal dominant 39 0 1 6 0 7
Intellectual disability, autosomal dominant 46 0 0 7 0 7
Intellectual disability, autosomal dominant 47 0 0 7 0 7
Lamb-Shaffer syndrome 0 2 5 0 7
Maturity-onset diabetes of the young type 8 0 0 7 0 7
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 0 2 5 0 7
Neurodevelopmental disorder 0 0 7 0 7
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 6 0 7
Nizon-Isidor syndrome 0 0 7 0 7
Noonan syndrome 4 0 0 7 0 7
Obesity due to leptin receptor gene deficiency 0 0 7 0 7
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 6 0 7
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 0 0 7 0 7
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 0 0 7 0 7
Type 2 diabetes mellitus; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 7 0 7
Wolfram syndrome 1; Type 2 diabetes mellitus 0 0 7 0 7
X-linked intellectual disability, Cantagrel type 0 0 6 1 7
ZTTK syndrome 1 1 5 0 7
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 6 0 6
Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 0 1 5 0 6
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 6 0 6
Bardet-Biedl syndrome 12 1 0 5 0 6
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2 1 3 0 6
Bardet-Biedl syndrome 4 0 1 5 0 6
Breast-ovarian cancer, familial, susceptibility to, 1 5 1 0 0 6
Developmental and epileptic encephalopathy, 66 0 0 6 0 6
Developmental and epileptic encephalopathy, 67 0 0 6 0 6
Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 0 6 0 6
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 6 0 6
Epilepsy, progressive myoclonic, 1B 0 0 6 0 6
Familial partial lipodystrophy, Dunnigan type 0 0 6 0 6
Floating-Harbor syndrome 0 0 6 0 6
Hao-Fountain syndrome 0 0 6 0 6
Hypertrophic cardiomyopathy 26 1 1 4 0 6
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 6 0 6
Intellectual disability, autosomal dominant 1 0 0 5 1 6
Intellectual disability, autosomal dominant 50 1 1 4 0 6
Intellectual disability, autosomal dominant 51 1 0 5 0 6
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 0 6 0 6
Kleefstra syndrome 1 0 1 5 0 6
Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 0 0 6 0 6
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 0 6 0 6
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 6 0 6
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 6 0 6
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 6 0 6
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 6 0 6
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 6 0 6
Noonan syndrome 9 0 0 6 0 6
O'Donnell-Luria-Rodan syndrome 0 0 6 0 6
Occipital pachygyria and polymicrogyria 0 1 5 0 6
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 6 0 6
Periventricular nodular heterotopia 7 0 0 6 0 6
Phenylketonuria 3 3 0 0 6
Pilarowski-Bjornsson syndrome 0 0 6 0 6
Primary ciliary dyskinesia 7 0 1 5 0 6
Rafiq syndrome 0 0 6 0 6
Short QT syndrome type 1; Long QT syndrome 2 0 0 6 0 6
Smith-Lemli-Opitz syndrome 3 1 2 0 6
Tatton-Brown-Rahman overgrowth syndrome 3 0 3 0 6
Wolcott-Rallison dysplasia 0 0 6 0 6
Abdominal obesity-metabolic syndrome 3 0 0 5 0 5
Autism, susceptibility to, 17 0 0 5 0 5
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 5 0 5
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 1 4 0 5
Bardet-Biedl syndrome 7 0 0 5 0 5
CBL-related disorder 0 0 5 0 5
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 0 1 4 0 5
Cerebellar atrophy with seizures and variable developmental delay 0 1 4 0 5
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 5 0 5
Developmental and epileptic encephalopathy, 19 0 0 5 0 5
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 5 0 5
Developmental and epileptic encephalopathy, 48 0 1 4 0 5
Developmental and epileptic encephalopathy, 5 1 0 4 0 5
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 0 0 4 1 5
Developmental and epileptic encephalopathy, 7 0 0 5 0 5
Developmental and epileptic encephalopathy, 9 0 1 4 0 5
Developmental delay with autism spectrum disorder and gait instability 1 1 3 0 5
Developmental delay with or without dysmorphic facies and autism 0 0 5 0 5
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 1 4 0 5
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 5 0 5
Global developmental delay with or without impaired intellectual development 1 1 3 0 5
Harel-Yoon syndrome 0 1 4 0 5
Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I 0 0 5 0 5
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 1 2 2 0 5
Inherited obesity 0 0 5 0 5
Intellectual developmental disorder with autism and macrocephaly 0 0 5 0 5
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 0 5 0 5
Intellectual disability, autosomal dominant 15 0 1 4 0 5
Intellectual disability, autosomal dominant 16 0 0 5 0 5
Intellectual disability, autosomal recessive 13 0 0 5 0 5
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 5 0 5
JMJD1C-associated Neurodevelopmental Disorder 0 0 5 0 5
Long QT syndrome 1 3 1 1 0 5
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 5 0 5
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 4 0 5
Microcephaly 5, primary, autosomal recessive 0 0 5 0 5
Moyamoya disease 2 1 0 4 0 5
Mucopolysaccharidosis, MPS-III-B 0 0 5 0 5
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 0 5 0 5
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 5 0 5
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 0 5 0 5
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome; Pancreatic agenesis 2 0 0 5 0 5
Phelan-McDermid syndrome 0 0 5 0 5
Pitt-Hopkins syndrome 0 1 4 0 5
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 5 0 5
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 0 0 5 0 5
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 5 0 5
Succinate-semialdehyde dehydrogenase deficiency 2 0 3 0 5
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 5 0 5
Wolfram syndrome 1; Wolfram-like syndrome 0 1 4 0 5
X-linked Opitz G/BBB syndrome 0 0 5 0 5
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 4 0 4
ANK2-related Autism 0 0 4 0 4
Aicardi-Goutieres syndrome 7 0 0 4 0 4
Amelocerebrohypohidrotic syndrome 0 0 4 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 0 1 0 4
Aortic valve disease 2 0 1 3 0 4
Arrhythmogenic right ventricular dysplasia 13 0 0 4 0 4
Arrhythmogenic right ventricular dysplasia 9 3 0 1 0 4
Arrhythmogenic right ventricular dysplasia, familial, 14 0 0 4 0 4
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 1 3 0 4
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 4 0 4
Bardet-Biedl syndrome 5 0 0 4 0 4
Body mass index quantitative trait locus 12; Obesity due to prohormone convertase I deficiency 0 0 4 0 4
Brugada syndrome 0 0 4 0 4
Cardiac valvular dysplasia, X-linked 0 0 4 0 4
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 0 4 0 4
Cerebral cavernous malformation 0 0 4 0 4
Chédiak-Higashi syndrome 0 0 4 0 4
Combined immunodeficiency due to STIM1 deficiency 0 0 4 0 4
Congenital heart disease 0 0 4 0 4
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 4 0 4
Developmental and epileptic encephalopathy 93 0 0 4 0 4
Developmental and epileptic encephalopathy, 12 0 0 4 0 4
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 4 0 4
Developmental and epileptic encephalopathy, 23 0 0 4 0 4
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 0 4 0 4
Developmental and epileptic encephalopathy, 27 0 0 3 1 4
Developmental and epileptic encephalopathy, 28 0 0 4 0 4
Developmental and epileptic encephalopathy, 4 0 1 3 0 4
Developmental and epileptic encephalopathy, 47 0 0 4 0 4
Developmental and epileptic encephalopathy, 49 0 0 4 0 4
Developmental and epileptic encephalopathy, 57 0 0 4 0 4
Dilated cardiomyopathy 1A 2 1 1 0 4
Dilated cardiomyopathy 1S 1 1 2 0 4
Epilepsy, familial adult myoclonic, 2 0 0 4 0 4
Familial hypobetalipoproteinemia 2 0 0 4 0 4
Fish-eye disease; Norum disease 0 0 4 0 4
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 4 0 4
Global developmental delay with speech and behavioral abnormalities 0 0 4 0 4
Glycine encephalopathy 0 1 3 0 4
Heterotopia, periventricular, X-linked dominant 0 0 4 0 4
Holoprosencephaly 9 0 0 4 0 4
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 4 0 4
Houge-Janssens syndrome 1 1 0 3 0 4
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3 1 0 3 0 4
Hyperlipoproteinemia, type 1D 0 1 3 0 4
Hyperphosphatasia with intellectual disability syndrome 2 0 1 3 0 4
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 3 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 0 4 0 4
Immunodeficiency 64 0 0 4 0 4
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 0 4 0 4
Intellectual disability, X-linked 104 0 0 4 0 4
Intellectual disability, autosomal dominant 33 0 0 4 0 4
Intellectual disability, autosomal dominant 56 0 1 3 0 4
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 0 4 0 4
Intellectual disability, autosomal recessive 27 0 2 2 0 4
Left ventricular noncompaction 8 0 0 4 0 4
Lysosomal acid lipase deficiency 0 0 4 0 4
Microcephaly, seizures, and developmental delay 0 0 4 0 4
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 0 4 0 4
Multiple mitochondrial dysfunctions syndrome 6 0 2 2 0 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 1 2 1 0 4
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0 1 3 0 4
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 1 3 0 4
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 3 0 4
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 3 0 4
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 3 0 4
Nicolaides-Baraitser syndrome 0 0 4 0 4
Niemann-Pick disease, type C1 1 0 3 0 4
Noonan syndrome 1 4 0 0 0 4
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 0 4 0 4
Obesity 0 1 3 0 4
Obesity due to pro-opiomelanocortin deficiency; Inherited obesity 0 0 4 0 4
Sarcotubular myopathy 0 0 4 0 4
Schizencephaly 0 0 4 0 4
Seizures, benign familial infantile, 5 0 0 4 0 4
Seizures, benign familial neonatal, 2 0 1 3 0 4
Severe myoclonic epilepsy in infancy 1 0 3 0 4
Shashi-Pena syndrome 0 0 4 0 4
Shprintzen-Goldberg syndrome 0 0 4 0 4
Skraban-Deardorff syndrome 0 0 4 0 4
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 4 0 4
Spinocerebellar ataxia type 29 0 1 3 0 4
Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young type 2 0 0 4 0 4
Vici syndrome 0 1 3 0 4
X-linked intellectual disability, Stocco dos Santos type 0 0 4 0 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 2 1 0 3
ALG1-congenital disorder of glycosylation 0 1 2 0 3
ALG9 congenital disorder of glycosylation 0 0 3 0 3
ANK2-associated Complex Neurodevelopmental Disorder 0 0 3 0 3
Agammaglobulinemia 2, autosomal recessive 0 0 3 0 3
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 2 0 3
Atrial fibrillation, familial, 3; Long QT syndrome 1; Short QT syndrome type 2 0 1 2 0 3
Au-Kline syndrome 0 1 2 0 3
Ayme-Gripp syndrome 0 0 3 0 3
BAZ2B-related Neurodevelopmental disorder 0 1 2 0 3
Bardet-Biedl syndrome 10 0 0 3 0 3
Basilicata-Akhtar syndrome 0 0 3 0 3
Bohring-Opitz syndrome 0 0 3 0 3
Brain small vessel disease 1 with or without ocular anomalies 0 0 3 0 3
Brittle cornea syndrome 1 0 0 3 0 3
Brugada syndrome 1; Long QT syndrome 3 1 1 1 0 3
CLIP1-related intellectual disability 0 0 3 0 3
CTCF-related neurodevelopmental disorder 1 0 2 0 3
Cardiomyopathy, familial hypertrophic, 28 0 0 3 0 3
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 3 0 3
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 0 0 3 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 3 0 3
Cerebroretinal microangiopathy with calcifications and cysts 1 0 1 2 0 3
Chromosome 15q11.2 deletion syndrome 3 0 0 0 3
Coffin-Siris syndrome 10 0 0 3 0 3
Coffin-Siris syndrome 12 0 0 3 0 3
Coffin-Siris syndrome 6 0 0 3 0 3
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 0 1 2 0 3
Combined immunodeficiency due to DOCK8 deficiency 0 0 3 0 3
Combined immunodeficiency due to LRBA deficiency 0 0 3 0 3
Combined oxidative phosphorylation deficiency 36 0 0 3 0 3
DeSanto-Shinawi syndrome due to WAC point mutation 0 1 2 0 3
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 2 1 0 3
Deficiency of beta-ureidopropionase 0 1 2 0 3
Developmental and epileptic encephalopathy, 11 0 0 3 0 3
Developmental and epileptic encephalopathy, 30 0 0 2 1 3
Developmental and epileptic encephalopathy, 37 0 1 2 0 3
Developmental and epileptic encephalopathy, 50 0 1 2 0 3
Developmental and epileptic encephalopathy, 54 0 0 3 0 3
Developmental and epileptic encephalopathy, 76 0 1 2 0 3
Dilated cardiomyopathy 1C 0 0 3 0 3
Dilated cardiomyopathy 1I 0 0 3 0 3
Dworschak-Punetha neurodevelopmental syndrome 0 0 3 0 3
EAST syndrome 0 0 3 0 3
Epilepsy, early-onset, vitamin B6-dependent 0 0 3 0 3
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 3 0 3
Epilepsy, familial adult myoclonic, 4 0 0 3 0 3
Epilepsy, familial adult myoclonic, 5 0 0 3 0 3
Epilepsy, juvenile myoclonic, susceptibility to, 10 0 0 3 0 3
Episodic ataxia type 6 0 0 3 0 3
Familial acute necrotizing encephalopathy 0 0 3 0 3
Familial apolipoprotein C-II deficiency 0 0 3 0 3
Familial cancer of breast 2 1 0 0 3
Familial type 3 hyperlipoproteinemia 0 2 1 0 3
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 3 0 3
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome 0 0 3 0 3
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 0 3 0 3
Heart defect - tongue hamartoma - polysyndactyly syndrome 0 0 3 0 3
Hydrocephalus, congenital communicating, 1 0 0 3 0 3
Hyperekplexia 1 1 0 2 0 3
Hyperinsulinism-hyperammonemia syndrome 0 0 3 0 3
Hypomagnesemia, seizures, and intellectual disability 1 0 1 2 0 3
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 0 3 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 3 0 3
Ichthyosis vulgaris 2 0 1 0 3
Intellectual developmental disorder 62 0 0 3 0 3
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 3 0 3
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 3 0 3
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 3 0 3
Intellectual disability, X-linked 1 0 1 2 0 3
Intellectual disability, X-linked 21 0 0 3 0 3
Intellectual disability, X-linked 49 0 0 3 0 3
Intellectual disability, X-linked 63 0 0 3 0 3
Intellectual disability, X-linked 99; Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 2 0 3
Intellectual disability, X-linked, syndromic, Houge type 0 1 2 0 3
Intellectual disability, autosomal dominant 22 1 1 1 0 3
Intellectual disability, autosomal dominant 3 0 0 3 0 3
Intellectual disability, autosomal dominant 40 0 0 3 0 3
Intellectual disability, autosomal dominant 41 0 0 3 0 3
Intellectual disability, autosomal dominant 42 0 0 3 0 3
Intellectual disability, autosomal dominant 54 0 0 3 0 3
Intellectual disability, autosomal recessive 3 0 0 3 0 3
Intellectual disability, autosomal recessive 43 0 1 2 0 3
Intellectual disability, autosomal recessive 6 0 0 3 0 3
Intellectual disability, autosomal recessive 65 0 1 2 0 3
Intellectual disability-epilepsy-extrapyramidal syndrome 0 1 2 0 3
Joubert syndrome 26 0 0 3 0 3
Knobloch syndrome 1 0 0 3 0 3
Koolen-de Vries syndrome 0 0 3 0 3
LEOPARD syndrome 2; Noonan syndrome 5 0 0 3 0 3
Legius syndrome 0 0 3 0 3
MHC class II deficiency 0 0 3 0 3
MICAL1-related Lateral temporal epilepsy 0 0 3 0 3
MIRAGE syndrome 0 0 3 0 3
Macrocephaly, acquired, with impaired intellectual development 0 0 3 0 3
Mandibulofacial dysostosis-microcephaly syndrome 0 0 3 0 3
Marfan syndrome 0 1 2 0 3
Maturity-onset diabetes of the young type 4; Type 2 diabetes mellitus 0 0 3 0 3
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 3 0 3
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 0 0 3 0 3
Methylmalonic acidemia with homocystinuria, type cblX 0 0 3 0 3
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 3 0 3
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 3 0 3
Mowat-Wilson syndrome 0 0 3 0 3
Netherton syndrome 0 1 2 0 3
Neurodevelopmental disorder with alopecia and brain abnormalities 0 0 3 0 3
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 1 2 0 3
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 3 0 3
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 2 0 3
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 3 0 3
Neurofibromatosis, type 1 2 0 1 0 3
Neurofibromatosis, type 2 0 0 3 0 3
Neuronal ceroid lipofuscinosis 2 1 0 2 0 3
Neurooculocardiogenitourinary syndrome 0 0 3 0 3
Obesity, hyperphagia, and developmental delay; Developmental and epileptic encephalopathy, 58 0 1 2 0 3
Oculofaciocardiodental syndrome 0 0 3 0 3
Paganini-Miozzo syndrome 0 0 3 0 3
Periventricular nodular heterotopia 6 0 0 3 0 3
Pitt-Hopkins-like syndrome 2 0 1 2 0 3
Polycystic kidney disease, adult type 1 0 2 0 3
Polyglandular autoimmune syndrome, type 1 1 0 2 0 3
Pontocerebellar hypoplasia type 3 0 0 3 0 3
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 1 2 0 3
Pyridoxal phosphate-responsive seizures 0 1 2 0 3
Pyridoxine-dependent epilepsy 1 0 2 0 3
Pyruvate dehydrogenase E1-alpha deficiency 1 0 2 0 3
RASopathy 1 0 2 0 3
Radio-Tartaglia syndrome 0 0 3 0 3
Rett syndrome 1 0 1 1 3
SIM1-associated metabolic syndrome 0 1 2 0 3
Salla disease 2 0 1 0 3
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 0 0 3 0 3
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 0 3 0 3
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 3 0 3
Sifrim-Hitz-Weiss syndrome 0 0 3 0 3
Timothy syndrome 0 0 3 0 3
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 0 0 3 0 3
Timothy syndrome; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 3 0 3
UNC13A-related Neurodevelopmental and Movement disorder 0 0 3 0 3
Wilson-Turner syndrome 0 0 3 0 3
Wolfram syndrome 1 1 1 1 0 3
15q11q13 microduplication syndrome 1 0 1 0 2
16p13.11 microduplication syndrome 0 2 0 0 2
8q24.3 microdeletion syndrome 0 0 2 0 2
AGMO-related Neurodevelopmental disorder 0 0 2 0 2
ANK2-associated Neurodevelopmental Disorder 0 0 2 0 2
ANK3-related neurodevelopmental disorder 0 0 2 0 2
Absence seizure 0 0 2 0 2
Acrodysostosis 2 with or without hormone resistance 0 0 2 0 2
Adams-Oliver syndrome 3 0 0 2 0 2
Adenylosuccinate lyase deficiency 0 0 2 0 2
Agammaglobulinemia 8, autosomal dominant 0 0 2 0 2
Aicardi-Goutieres syndrome 2 1 0 1 0 2
Alexander disease 0 0 2 0 2
Alkuraya-Kucinskas syndrome 0 0 2 0 2
Alopecia-intellectual disability syndrome 4 0 0 2 0 2
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2 0 0 2 0 2
Aminoacylase 1 deficiency 0 1 1 0 2
Angelman syndrome 1 0 1 0 2
Aortic valve disease 1 0 0 2 0 2
Aortic valve disease 1; Adams-Oliver syndrome 5 1 0 1 0 2
Apolipoprotein c-III deficiency 0 0 2 0 2
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 0 1 1 0 2
Arrhythmogenic right ventricular dysplasia 11 0 0 2 0 2
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 2 0 2
Arrhythmogenic right ventricular dysplasia 5 0 0 2 0 2
Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Hereditary spastic paraplegia 39; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 0 2 0 2
Ataxia-pancytopenia syndrome 0 0 2 0 2
Ataxia-telangiectasia-like disorder 1 1 1 0 0 2
Atrial conduction disease 0 0 2 0 2
Atrial fibrillation, familial, 4; Long QT syndrome 6 0 0 2 0 2
Autoimmune lymphoproliferative syndrome type 2B 0 0 2 0 2
Autosomal dominant Opitz G/BBB syndrome 0 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 18B 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 2
Autosomal recessive spinocerebellar ataxia 17 1 1 0 0 2
Baraitser-Winter syndrome 1 0 1 1 0 2
Bardet-Biedl syndrome 17 0 0 2 0 2
Bartter disease type 2 0 0 2 0 2
Biotinidase deficiency 1 1 0 0 2
Blau syndrome 0 0 2 0 2
Brunner syndrome 0 1 1 0 2
CEBALID syndrome 0 0 2 0 2
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 2 0 2
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 0 0 2 0 2
CTNND2-associated Neurodevelopmental syndrome 0 0 2 0 2
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 0 2 0 2
Cardiac, facial, and digital anomalies with developmental delay 0 0 2 0 2
Cardiac-urogenital syndrome 1 1 0 0 2
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, neonatal form 2 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 2 0 2
Cerebellar atrophy, developmental delay, and seizures 0 0 2 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome 0 0 2 0 2
Char syndrome; Patent ductus arteriosus 2 0 0 2 0 2
Charcot-Marie-Tooth disease type 4J 0 1 1 0 2
Charlevoix-Saguenay spastic ataxia 0 0 2 0 2
Child syndrome; CK syndrome 0 0 2 0 2
Childhood apraxia of speech 0 0 2 0 2
Christianson syndrome 0 0 2 0 2
Chromosome 2q32-q33 deletion syndrome 1 0 1 0 2
Ciliary dyskinesia, primary, 40 0 0 2 0 2
Cobalamin C disease 2 0 0 0 2
Coffin-Siris syndrome 5 0 0 2 0 2
Combined immunodeficiency due to MALT1 deficiency 0 0 2 0 2
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 2 0 2
Combined oxidative phosphorylation defect type 20 0 1 1 0 2
Combined oxidative phosphorylation defect type 23 0 1 1 0 2
Complex cortical dysplasia with other brain malformations 7 0 1 1 0 2
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 2 0 2
Congenital diarrhea 6 0 0 2 0 2
Congenital generalized lipodystrophy type 2 0 0 2 0 2
Congenital heart defects and ectodermal dysplasia 0 0 2 0 2
Congenital heart defects, multiple types, 7 0 1 1 0 2
Congenital hyperammonemia, type I 0 0 2 0 2
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 0 2 0 2
Congenital myasthenic syndrome 10 0 0 2 0 2
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 1 0 1 0 2
Cornelia de Lange syndrome 3 0 0 2 0 2
Cystic fibrosis 2 0 0 0 2
D-2-hydroxyglutaric aciduria 1 0 0 2 0 2
DNAH14-Associated Neurodevelopmental Disorder 0 0 2 0 2
DNHD1-related Intellectual Disability 0 0 2 0 2
DNHD1-related Neurodevelopmental Disorder 0 0 2 0 2
DYRK1A-related intellectual disability syndrome 0 0 2 0 2
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 2 0 2
Deficiency of guanidinoacetate methyltransferase 0 0 2 0 2
Deficiency of malonyl-CoA decarboxylase 0 0 2 0 2
Developmental and epileptic encephalopathy 91 0 0 2 0 2
Developmental and epileptic encephalopathy 92 0 1 1 0 2
Developmental and epileptic encephalopathy, 13 0 1 1 0 2
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 1 0 0 2
Developmental and epileptic encephalopathy, 15 0 0 2 0 2
Developmental and epileptic encephalopathy, 16 0 0 2 0 2
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 0 0 2 0 2
Developmental and epileptic encephalopathy, 2 0 2 0 0 2
Developmental and epileptic encephalopathy, 31A 0 0 2 0 2
Developmental and epileptic encephalopathy, 32 0 0 2 0 2
Developmental and epileptic encephalopathy, 39 0 0 2 0 2
Developmental and epileptic encephalopathy, 43 0 0 2 0 2
Developmental and epileptic encephalopathy, 72 0 0 2 0 2
Developmental and epileptic encephalopathy, 73 0 0 2 0 2
Developmental and epileptic encephalopathy, 74 0 0 2 0 2
Developmental and epileptic encephalopathy, 78 0 0 2 0 2
Developmental and epileptic encephalopathy, 8 0 0 2 0 2
Developmental and epileptic encephalopathy, 81 0 0 2 0 2
Developmental delay and seizures with or without movement abnormalities 0 0 2 0 2
DiGeorge syndrome 0 0 2 0 2
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 0 0 2 0 2
Dias-Logan syndrome 1 0 1 0 2
Diets-Jongmans syndrome 0 0 2 0 2
Dilated cardiomyopathy 1D 1 1 0 0 2
Dilated cardiomyopathy 1E 0 0 2 0 2
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 0 2 0 2
Dilated cardiomyopathy 1KK 0 0 2 0 2
Dilated cardiomyopathy 1Y 0 1 1 0 2
Dilated cardiomyopathy 3B 0 0 2 0 2
Dyskeratosis congenita, autosomal recessive 5 0 1 1 0 2
Dystonia 24 0 0 2 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 1 1 0 2
Ehlers-Danlos syndrome, classic type, 1 0 0 2 0 2
Ehlers-Danlos syndrome, classic type, 2 0 0 2 0 2
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 0 0 2 0 2
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome 0 0 2 0 2
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50 0 0 2 0 2
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 0 0 2 0 2
Epilepsy, familial adult myoclonic, 6 0 0 2 0 2
Epilepsy, familial focal, with variable foci 2 0 1 1 0 2
Epilepsy, familial focal, with variable foci 4 0 0 2 0 2
Epilepsy, familial temporal lobe, 1 0 0 2 0 2
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 2 0 2
Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 2 0 2
Epilepsy, idiopathic generalized, susceptibility to, 9 0 0 2 0 2
Epilepsy, progressive myoclonic, 11 0 0 2 0 2
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 0 2 0 2
Familial adenomatous polyposis 1 2 0 0 0 2
Familial cold autoinflammatory syndrome 2 0 0 2 0 2
Familial hemophagocytic lymphohistiocytosis 3 0 0 2 0 2
Familial temporal lobe epilepsy 8 0 0 2 0 2
Familial type 5 hyperlipoproteinemia; Hypertriglyceridemia 1 0 0 2 0 2
Fanconi anemia complementation group C 1 1 0 0 2
Fanconi anemia complementation group P 0 0 2 0 2
Gabriele de Vries syndrome 0 0 2 0 2
Galloway-Mowat syndrome 2, X-linked 0 0 2 0 2
Ghosal hematodiaphyseal dysplasia 0 1 1 0 2
Gorlin syndrome; Holoprosencephaly 7 0 0 2 0 2
Greenberg dysplasia; Regressive spondylometaphyseal dysplasia 0 0 2 0 2
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 0 0 2 0 2
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 2 0 0 2
Hb SS disease 2 0 0 0 2
Hearing loss, autosomal recessive 112 0 0 2 0 2
Hemochromatosis type 1 2 0 0 0 2
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 0 0 2 0 2
Holoprosencephaly 12 with or without pancreatic agenesis 1 0 1 0 2
Holoprosencephaly 4 0 0 2 0 2
Holoprosencephaly 7 0 0 2 0 2
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 0 2 0 2
Houge-Janssens syndrome 3 0 0 2 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 0 2 0 2
Hyper-IgM syndrome type 2 0 0 2 0 2
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 0 0 2 0 2
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 0 1 1 0 2
Hypertrophic cardiomyopathy 6 0 0 2 0 2
Hypertrophic cardiomyopathy 9 0 0 2 0 2
Hyperuricemic nephropathy, familial juvenile type 4 0 0 2 0 2
Hypoalphalipoproteinemia, primary, 1 0 1 1 0 2
Hypogonadotropic hypogonadism 0 0 2 0 2
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 1 0 2
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 0 2 0 2
Hypopigmentation, organomegaly, and delayed myelination and development 0 0 2 0 2
Idiopathic basal ganglia calcification 1 0 0 2 0 2
Imagawa-Matsumoto syndrome 0 0 2 0 2
Imerslund-Grasbeck syndrome type 1 0 0 2 0 2
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 0 0 2 0 2
Immunodeficiency 23 0 1 1 0 2
Immunodeficiency 51 0 0 2 0 2
Immunodeficiency 75 0 0 2 0 2
Immunodeficiency due to MASP-2 deficiency 0 1 1 0 2
Immunodeficiency, common variable, 2 0 0 2 0 2
Immunodeficiency, common variable, 7 0 0 2 0 2
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B 0 0 2 0 2
Infantile onset spinocerebellar ataxia; Perrault syndrome 5 0 0 2 0 2
Inherited susceptibility to asthma; Intellectual disability, autosomal recessive 51 0 1 1 0 2
Intellectual developmental disorder with autism and speech delay 0 0 2 0 2
Intellectual developmental disorder with hypertelorism and distinctive facies 0 0 2 0 2
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 2 0 2
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 0 2 0 2
Intellectual developmental disorder with neuropsychiatric features 0 0 2 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 2 0 2
Intellectual developmental disorder, X-linked 108 0 0 2 0 2
Intellectual developmental disorder, autosomal dominant 64 0 0 2 0 2
Intellectual developmental disorder, autosomal recessive 67 0 0 2 0 2
Intellectual developmental disorder, autosomal recessive 71 0 0 2 0 2
Intellectual developmental disorder, autosomal recessive 74; Cortical dysplasia, complex, with other brain malformations 10 0 0 2 0 2
Intellectual disability, anterior maxillary protrusion, and strabismus 0 0 2 0 2
Intellectual disability, autosomal dominant 10 0 0 2 0 2
Intellectual disability, autosomal dominant 2 0 0 2 0 2
Intellectual disability, autosomal dominant 24; Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 2 0 2
Intellectual disability, autosomal dominant 30 0 0 2 0 2
Intellectual disability, autosomal dominant 34 0 1 1 0 2
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 0 0 2 0 2
Intellectual disability, autosomal dominant 53 0 0 2 0 2
Intellectual disability, autosomal dominant 55, with seizures 0 0 2 0 2
Intellectual disability, autosomal dominant 57 0 0 2 0 2
Intellectual disability, autosomal dominant 6 1 0 1 0 2
Intellectual disability, autosomal recessive 47 0 0 2 0 2
Intellectual disability, autosomal recessive 52 0 0 2 0 2
Intellectual disability, autosomal recessive 57 0 0 2 0 2
JARID2-associated Neurodevelopmental disorder 0 0 2 0 2
Joubert syndrome 40 0 0 2 0 2
Joubert syndrome 5; Bardet-Biedl syndrome 14 0 0 2 0 2
KIF21B-related Neurodevelopmental disorder 0 0 2 0 2
Kabuki syndrome 2 0 0 2 0 2
Keratosis follicularis 0 0 2 0 2
Khan-Khan-Katsanis syndrome 0 0 2 0 2
Kilquist syndrome; Delpire-McNeill syndrome 0 0 2 0 2
Knobloch syndrome 0 1 1 0 2
Lambdoidal craniosynostosis; Chitayat syndrome 0 0 2 0 2
Larsen syndrome 0 0 2 0 2
Leigh syndrome 0 0 2 0 2
Lessel-Kreienkamp syndrome 0 0 2 0 2
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 0 0 2 0 2
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 0 2 0 2
Li-Fraumeni syndrome 1 2 0 0 0 2
Li-Ghorbani-Weisz-Hubshman syndrome 0 0 2 0 2
Loeys-Dietz syndrome 2 0 0 2 0 2
Long QT syndrome 2 0 1 1 0 2
Lowe syndrome 0 0 2 0 2
Lymphatic malformation 6 0 2 0 0 2
MHC class I deficiency 0 0 2 0 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 2 0 2
Marshall-Smith syndrome; Malan overgrowth syndrome 0 0 2 0 2
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus 0 0 2 0 2
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 2 0 2
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 1 1 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 0 0 2 0 2
Menkes kinky-hair syndrome 0 0 2 0 2
Methylcobalamin deficiency type cblG 0 1 1 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 2 0 2
Microcephaly 1, primary, autosomal recessive 0 0 2 0 2
Microcephaly 4, primary, autosomal recessive 0 0 2 0 2
Microcephaly 6, primary, autosomal recessive 0 1 1 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 2 0 2
Microphthalmia, isolated, with coloboma 9 0 0 2 0 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 0 2 0 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 0 2 0 2
Mitochondrial disease 1 0 1 0 2
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 1 1 0 2
Myoclonic epilepsy 0 0 2 0 2
Myoclonic epilepsy of Lafora 1 0 0 2 0 2
NARG2-related Intellectual disability 0 0 2 0 2
Nance-Horan syndrome 0 0 2 0 2
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 0 0 2 0 2
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 0 0 2 0 2
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 2 0 2
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 1 1 0 2
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 0 2 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 0 2 0 2
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 2 0 2
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 0 2 0 2
Neurodevelopmental disorder with seizures and brain atrophy 0 0 2 0 2
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0 0 2 0 2
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 0 0 2 0 2
Neuronal ceroid lipofuscinosis 1 1 0 1 0 2
Neuronal ceroid lipofuscinosis 3 0 0 2 0 2
Neuronal ceroid lipofuscinosis 8 0 0 2 0 2
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 0 0 2 0 2
Neuroocular syndrome 1 0 0 2 0 2
Neutral 1 amino acid transport defect 0 0 2 0 2
Noonan syndrome 2 1 1 0 0 2
Obesity due to pro-opiomelanocortin deficiency 0 0 2 0 2
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 0 0 2 0 2
Orofaciodigital syndrome type 6; Joubert syndrome 17 2 0 0 0 2
Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome; Roifman syndrome 2 0 0 0 2
PIDD1-associated neurodevelopmental disorder 0 0 2 0 2
Pancytopenia due to IKZF1 mutations 0 0 2 0 2
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3 0 0 2 0 2
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 0 2 0 2
Pheochromocytoma 1 1 0 0 2
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 0 2 0 2
Pontocerebellar hypoplasia type 6 0 1 1 0 2
Primary ciliary dyskinesia 14 0 0 2 0 2
Primary ciliary dyskinesia 5 0 0 2 0 2
Primary dilated cardiomyopathy 0 0 2 0 2
Primrose syndrome 0 1 1 0 2
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 1 1 0 2
Propionic acidemia 1 1 0 0 2
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type I A 0 0 2 0 2
Pyogenic bacterial infections due to MyD88 deficiency 0 1 1 0 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 1 0 2
Renal coloboma syndrome 0 0 2 0 2
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus 0 0 2 0 2
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 1 0 1 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 0 2 0 2
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 0 2 0 2
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 0 0 2 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 0 2 0 2
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 0 2 0 2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 0 0 2 0 2
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies 0 0 2 0 2
Short-rib thoracic dysplasia 15 with polydactyly; Sitosterolemia 2 0 1 1 0 2
Shukla-Vernon syndrome 0 0 2 0 2
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 1 1 0 2
Snijders blok-fisher syndrome 0 1 1 0 2
Specific language impairment 5 0 0 2 0 2
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16 0 0 2 0 2
Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 2 0 2
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 0 2 0 2
Spinocerebellar ataxia, autosomal recessive 22 0 0 2 0 2
Stankiewicz-Isidor syndrome 0 0 2 0 2
Structural brain anomalies with impaired intellectual development and craniosynostosis 0 1 1 0 2
Syndromic X-linked intellectual disability 34 1 0 1 0 2
TCF12-related craniosynostosis 0 0 2 0 2
TSPOAP1-related Dystonia 0 0 2 0 2
Tenorio syndrome 0 0 2 0 2
Troyer syndrome 1 0 1 0 2
Tuberous sclerosis 1 0 0 2 0 2
Type 2 diabetes mellitus; Fanconi-Bickel syndrome 0 0 2 0 2
Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 0 2 0 2
UBR4-associated neurodevelopmental syndrome 0 0 2 0 2
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 0 2 0 2
Usher syndrome type 1 0 0 2 0 2
Usher syndrome type 1D 0 1 1 0 2
Ververi-Brady syndrome 0 1 1 0 2
Webb-Dattani syndrome 0 0 2 0 2
Wolf-Hirschhorn like syndrome 0 1 1 0 2
X-linked intellectual disability Cabezas type 0 0 2 0 2
Zimmermann-Laband syndrome 3 0 0 2 0 2
10q11.22q11.23 deletion syndrome 0 1 0 0 1
12p13.33 duplication syndrome 0 0 1 0 1
14q11.2 microduplication syndrome 0 0 1 0 1
15q11.2 BP1-BP2 recurrent deletion 1 0 0 0 1
16p13.11 recurrent microdeletion syndrome 0 1 0 0 1
1q21.1 microdeletion syndrome (BP3-BP4, distal) 1 0 0 0 1
20q13.13qter duplication 1 0 0 0 1
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 0 0 0 1
22q11.2 deletion syndrome 1 0 0 0 1
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 1
3-methylglutaconic aciduria, type VIIB 0 0 1 0 1
46,XY sex reversal 3 1 0 0 0 1
4p partial monosomy syndrome 0 0 1 0 1
5q14.3 microdeletion 1 0 0 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 0 1 0 1
6q22.1 Microdeletion Syndrome 1 0 0 0 1
7p22.1 microduplication syndrome 0 0 1 0 1
ADAMTS19-associated congenital heartdefect 0 0 1 0 1
AGO1-related Intellectual disability 0 1 0 0 1
AKAP6-related Intellectual Disability 0 0 1 0 1
AKNA-related autism spectrum disorder 0 0 1 0 1
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 0 0 1 0 1
ALG11-congenital disorder of glycosylation 0 0 1 0 1
ALG3-congenital disorder of glycosylation 0 0 1 0 1
ARHGEF6-associated Neurodevelopmental disorder 0 0 1 0 1
ATP10B-associated developmental disorder 0 0 1 0 1
ATP2B2-related Progressive hearing impairment 0 0 1 0 1
Aarskog syndrome 1 0 0 0 1
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 0 0 1 0 1
Achondroplasia 1 0 0 0 1
Acne inversa, familial, 1 0 0 1 0 1
Acrokeratosis verruciformis of Hopf; Keratosis follicularis 0 0 1 0 1
Action myoclonus-renal failure syndrome 0 0 1 0 1
Acute intermittent porphyria 0 0 1 0 1
Acyl-CoA oxidase deficiency 0 1 0 0 1
Adams-Oliver syndrome 5 0 0 1 0 1
Adrenoleukodystrophy 0 0 1 0 1
Advanced sleep phase syndrome 1 0 0 1 0 1
Advanced sleep phase syndrome 3 0 0 1 0 1
Agammaglobulinemia 3, autosomal recessive 0 0 1 0 1
Agammaglobulinemia 4, autosomal recessive 0 0 1 0 1
Aicardi-Goutieres syndrome 1 0 1 0 0 1
Aicardi-Goutieres syndrome 4 1 0 0 0 1
Aicardi-Goutieres syndrome 5 0 0 1 0 1
Aicardi-Goutieres syndrome 5; Chilblain lupus 2 0 0 1 0 1
Aicardi-Goutieres syndrome 6 0 0 1 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 0 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 1
Alternating hemiplegia of childhood 1 0 0 1 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 1
Aminoglycoside Ototoxicity 0 1 0 0 1
Aminoglycoside induced ototoxicity 1 0 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 1
Amyotrophic lateral sclerosis type 21 0 0 1 0 1
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 1 0 1
Amyotrophic neuralgia 0 0 1 0 1
Aortic aneurysm, familial thoracic 12 0 1 0 0 1
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2 0 0 1 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 1
Arginine:glycine amidinotransferase deficiency 0 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 1
Arthrogryposis, distal, type 2B2 1 0 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome 0 0 1 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 0 1 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 0 1
Ataxia - oculomotor apraxia type 4 0 0 1 0 1
Ataxia-telangiectasia syndrome 0 0 1 0 1
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 1 0 1
Atelosteogenesis type III; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 1 0 1
Atrial fibrillation, familial, 15 0 0 1 0 1
Atrial fibrillation, familial, 18 0 0 1 0 1
Atrial fibrillation, familial, 7 0 0 1 0 1
Atrial septal defect 6 0 0 1 0 1
Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 0 0 1 0 1
Atrial septal defect 7; Conotruncal heart malformations; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 0 0 1 0 1
Atypical Leigh syndrome 0 0 1 0 1
Aural atresia, congenital 0 0 1 0 1
Autism spectrum disorder 0 0 1 0 1
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 0 0 1 0 1
Autism, susceptibility to, 16 0 0 1 0 1
Autism, susceptibility to, 20 0 0 1 0 1
Autism, susceptibility to, X-linked 1 0 0 1 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 0 0 1 0 1
Autoinflammation, immune dysregulation, and eosinophilia 0 0 1 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 1 0 1
Autosomal dominant distal renal tubular acidosis 0 0 1 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 0 1 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 3A 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 40 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 1 0 1
Autosomal dominant omodysplasia 0 0 1 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 0 1
Autosomal recessive Alport syndrome 0 1 0 0 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 0 1
Autosomal recessive congenital ichthyosis 10 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2F 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 0 0 1 0 1
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 0 0 1 0 1
Autosomal recessive multiple pterygium syndrome 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 26 0 0 1 0 1
BOD1-related Intellectual Disability 0 0 1 0 1
BRSK2-related Intellectual Disability and Autism 0 0 1 0 1
BSCL2-related Developmental and epileptic encephalopathy 0 0 1 0 1
Bardet-Biedl syndrome 14 0 0 1 0 1
Bardet-Biedl syndrome 18 0 0 1 0 1
Bardet-Biedl syndrome 22; Joubert syndrome 40; Spermatogenic failure 58 0 0 1 0 1
Bardet-Biedl syndrome 3 0 0 1 0 1
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 0 0 1 0 1
Basal ganglia calcification, idiopathic, 6 0 0 1 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 1 0 1
Beckwith-Wiedemann syndrome 0 0 1 0 1
Beckwith-Wiedemann syndrome; IMAGe syndrome 0 0 1 0 1
Beta-D-mannosidosis 0 0 1 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 0 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 0 1 0 1
Bilateral frontoparietal polymicrogyria 0 0 1 0 1
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 0 1 0 0 1
Biotin-responsive basal ganglia disease 0 0 1 0 1
Blau syndrome; Inflammatory bowel disease 1 0 0 1 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 1 0 1
Bloom syndrome 1 0 0 0 1
Bone marrow failure syndrome 6 0 0 1 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 0 1
Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 0 0 1 0 1
Brain dopamine-serotonin vesicular transport disease 0 0 1 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 1 0 1
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 0 0 1 0 1
Branchiootic syndrome 3 0 0 1 0 1
Bronchiectasis with or without elevated sweat chloride 3 0 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 0 1 0 1
Brugada syndrome 3; Long QT syndrome 8 0 0 1 0 1
Buratti-Harel syndrome 0 1 0 0 1
CAP2-associated dilated cardiomyopathy 0 0 1 0 1
CDC42BPB-related Neurodevelopmental disorder 0 0 1 0 1
CDH4-associated disorder of corticaldevelopment 0 0 1 0 1
CDK16-related Intellectual Disability 0 0 1 0 1
CEDNIK syndrome 0 1 0 0 1
CELSR1-associated congenital heartdefects 0 0 1 0 1
CFHR5 deficiency 0 0 1 0 1
CHD5-associated Neurodevelopmental disorder 0 0 1 0 1
CHD5-related Neurodevelopmental disorder 0 0 1 0 1
CHD8-associated Neurodevelopmental syndrome 0 1 0 0 1
CK syndrome 0 0 1 0 1
CMIP-related neurodevelopmental disorder 0 1 0 0 1
CNTN4-associated neurodevelopmental disorder 0 0 1 0 1
CNTN5-related Neurodevelopmental disorder 0 0 1 0 1
COACH syndrome 1; Joubert syndrome 7 0 0 1 0 1
CODAS syndrome 0 0 1 0 1
COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 0 0 1 0 1
COG8-congenital disorder of glycosylation 0 0 1 0 1
CSDE1-associated neurodevelopmental disorder 0 0 1 0 1
CSMD3-associated Hirschsprung disease 0 0 1 0 1
Capillary malformation-arteriovenous malformation 1 0 0 1 0 1
Capillary malformation-arteriovenous malformation 2 0 1 0 0 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 0 0 1 0 1
Cardiofaciocutaneous syndrome 2 0 0 1 0 1
Cardiomyopathy, dilated, 2c 0 1 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 0 1 0 1
Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 0 0 1 0 1
Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2 0 0 1 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 0 1
Cataract 14 multiple types 0 1 0 0 1
Cataract 21 multiple types; Ayme-Gripp syndrome 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 1 0 1
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0 0 1 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 0 0 1 0 1
Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 0 1
Cerebral cavernous malformation 2 0 0 1 0 1
Cerebro-costo-mandibular syndrome 0 1 0 0 1
Cernunnos-XLF deficiency 0 0 1 0 1
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 0 0 1 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 1 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 1 0 1
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 0 0 1 0 1
Charcot-Marie-Tooth disease type 4G; Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1J 0 0 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD; Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 0 1
Chilblain lupus 1 0 1 0 0 1
Childhood onset GLUT1 deficiency syndrome 2 0 0 1 0 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 1 0 1
Cholestanol storage disease 1 0 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 1 0 0 1
Chromosomal instability with tissue-specific radiosensitivity 1 0 0 0 1
Chromosome 1p36 deletion syndrome 1 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 1
Chromosome 3q29 microdeletion syndrome 1 0 0 0 1
Chromosome Xq28 duplication syndrome 1 0 0 0 1
Ciliary dyskinesia, primary, 37 0 1 0 0 1
Citrullinemia type I 0 1 0 0 1
Classic homocystinuria 0 0 1 0 1
Clubfoot 0 0 1 0 1
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 0 0 1 0 1
Coffin-Siris syndrome 11 0 0 1 0 1
Coffin-Siris syndrome 7 0 0 1 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13 0 0 1 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 1 0 1
Colorectal cancer, susceptibility to, 12 0 0 1 0 1
Combined deficiency of sialidase AND beta galactosidase 0 1 0 0 1
Combined immunodeficiency due to CD3gamma deficiency 0 0 1 0 1
Combined immunodeficiency due to ORAI1 deficiency 0 0 1 0 1
Combined oxidative phosphorylation defect type 11 0 0 1 0 1
Combined oxidative phosphorylation defect type 24 0 1 0 0 1
Combined oxidative phosphorylation defect type 27 0 0 1 0 1
Complement component 5 deficiency 0 0 1 0 1
Complement component 6 deficiency 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 1 0 1
Complex neurodevelopmental disorder 0 0 1 0 1
Congenital Pulmonary Airway Malformations 1 0 0 0 1
Congenital bile acid synthesis defect 1 0 0 1 0 1
Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency 0 0 1 0 1
Congenital bile acid synthesis defect 6 0 1 0 0 1
Congenital cerebellar hypoplasia 0 0 1 0 1
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 1 0 1
Congenital diarrhea 7 with exudative enteropathy 0 0 1 0 1
Congenital disorder of deglycosylation 0 0 1 0 1
Congenital disorder of glycosylation, type ICC 0 0 1 0 1
Congenital disorder of glycosylation, type IIq 0 1 0 0 1
Congenital disorder of glycosylation, type iit 0 0 1 0 1
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 0 0 1 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 1 0 0 1
Congenital myasthenic syndrome 12 1 0 0 0 1
Congenital myasthenic syndrome 2A; Congenital myasthenic syndrome 2C 0 0 1 0 1
Congenital myasthenic syndrome 3B 0 1 0 0 1
Congenital myopathy 20 0 0 1 0 1
Congenital myotonia, autosomal recessive form 1 0 0 0 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 1 0 0 0 1
Congenital secretory sodium diarrhea 8 0 0 1 0 1
Congenital stromal corneal dystrophy 0 0 1 0 1
Congenital syndromic hypopituitarism 0 1 0 0 1
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 0 1 0 1
Corneal dystrophy, lattice type 3A; Thiel-Behnke corneal dystrophy; Reis-Bucklers' corneal dystrophy; Avellino corneal dystrophy; Epithelial basement membrane dystrophy; Lattice corneal dystrophy Type I; Groenouw corneal dystrophy type I 1 0 0 0 1
Cornelia de Lange syndrome 4 0 0 1 0 1
Cornelia de Lange syndrome 5 0 0 1 0 1
Cornelia de Lange syndrome 6 0 1 0 0 1
Cornelia de Lange-like syndrome 0 0 1 0 1
Coronary artery disease, autosomal dominant 2 0 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 10 0 0 1 0 1
Costello syndrome 0 0 1 0 1
Cowden syndrome 5 0 0 1 0 1
Craniofacial dysplasia - osteopenia syndrome 0 0 1 0 1
Creatine transporter deficiency 1 0 0 0 1
Cutis laxa with osteodystrophy 0 0 1 0 1
Cutis laxa, autosomal dominant 3 0 0 1 0 1
Cystic leukoencephalopathy without megalencephaly 0 1 0 0 1
DDX23-related Neurodevelopmental disorder 0 0 1 0 1
DDX54-related Neurodevelopment Syndrome 0 0 1 0 1
DDX54-related Neurodevelopmental Disorder 0 0 1 0 1
DHX34-related Neurodevelopmental Disorder 0 0 1 0 1
DHX58-associated Neurodevelopmental disorder 0 0 1 0 1
DISP1-related Holoprosencephaly 0 0 1 0 1
DNA ligase IV deficiency 0 0 1 0 1
DRD2-associated Dystonia 0 0 1 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 1 0 1
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 0 1 0 1
Deficiency of adenosine deaminase 2 0 0 1 0 1
Deficiency of alpha-mannosidase 1 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 0 1
Deficiency of phosphoserine phosphatase 0 1 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 1 0 0 1
Deletion of short arm of chromosome 18 1 0 0 0 1
Delpire-McNeill syndrome 0 0 1 0 1
Desmin-related myofibrillar myopathy 0 0 1 0 1
Desmosterolosis 0 0 1 0 1
Developmental and epileptic encephalopathy 112 0 0 1 0 1
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 1 0 1
Developmental and epileptic encephalopathy, 17 0 0 1 0 1
Developmental and epileptic encephalopathy, 21 0 0 1 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 0 1
Developmental and epileptic encephalopathy, 34 0 0 1 0 1
Developmental and epileptic encephalopathy, 35 0 0 1 0 1
Developmental and epileptic encephalopathy, 40 0 1 0 0 1
Developmental and epileptic encephalopathy, 41 0 0 1 0 1
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24 1 0 0 0 1
Developmental and epileptic encephalopathy, 45 0 0 1 0 1
Developmental and epileptic encephalopathy, 51 0 0 1 0 1
Developmental and epileptic encephalopathy, 53 0 0 1 0 1
Developmental and epileptic encephalopathy, 56 0 0 1 0 1
Developmental and epileptic encephalopathy, 58 0 0 1 0 1
Developmental and epileptic encephalopathy, 59 0 0 1 0 1
Developmental and epileptic encephalopathy, 61 0 1 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 1
Developmental and epileptic encephalopathy, 71 0 0 1 0 1
Developmental and epileptic encephalopathy, 77 0 0 1 0 1
Developmental and epileptic encephalopathy, 79 0 0 1 0 1
Developmental and epileptic encephalopathy, 80 0 1 0 0 1
Developmental and epileptic encephalopathy, 86 0 0 1 0 1
Developmental and epileptic encephalopathy, 87 0 0 1 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 0 1
Developmental disorder 0 0 1 0 1
Diabetes mellitus, transient neonatal, 1 0 0 1 0 1
Diaphragmatic hernia 3 0 1 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 0 1 0 1
Dihydropyrimidinase deficiency 0 1 0 0 1
Dihydropyrimidine dehydrogenase deficiency 0 1 0 0 1
Dilated cardiomyopathy 1A; Familial partial lipodystrophy, Dunnigan type 0 0 1 0 1
Dilated cardiomyopathy 1A; Restrictive dermopathy 2 0 0 1 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to 0 0 1 0 1
Dilated cardiomyopathy 1G 0 0 1 0 1
Dilated cardiomyopathy 1HH 0 0 1 0 1
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 0 0 1 0 1
Dilated cardiomyopathy 1J 0 0 1 0 1
Dilated cardiomyopathy 1L 0 0 1 0 1
Dilated cardiomyopathy 1P 0 1 0 0 1
Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy 18 1 0 0 0 1
Dilated cardiomyopathy 1X 0 0 1 0 1
Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 0 0 1 0 1
Dilated cardiomyopathy 2B 0 0 1 0 1
Distal 16p11.2 microdeletion syndrome 1 0 0 0 1
Distal 7q11.23 microdeletion syndrome 1 0 0 0 1
Distichiasis-lymphedema syndrome 0 1 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 1 0 1
Dyggve-Melchior-Clausen syndrome 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 1 0 1
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive 6 0 1 0 0 1
Dystonia 5 0 0 1 0 1
EEF1D-associated Neurodevelopmental Syndrome 0 0 1 0 1
EEF2-related Neurodevelopmental disorder 0 0 1 0 1
EIF4A2-related Neurodevelopmental Syndrome 0 0 1 0 1
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 0 0 1 0 1
ERBB4-associated epilepsy syndrome 0 0 1 0 1
ERBB4-related Non-syndromic intellectual disability or epilepsy 0 0 1 0 1
EXOC3L2-related brain malformations and/or renal disease 0 1 0 0 1
Early-onset Lafora body disease 0 0 1 0 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 1 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 0 1
Elliptocytosis 2 0 0 1 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 0 1 0 1
Epilepsy, early-onset 0 0 1 0 1
Epilepsy, familial adult myoclonic, 1 0 0 1 0 1
Epilepsy, familial adult myoclonic, 3 0 0 1 0 1
Epilepsy, familial adult myoclonic, 7 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 17 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 8 0 0 1 0 1
Episodic ataxia type 2 0 0 1 0 1
Episodic pain syndrome, familial, 2 0 0 1 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 1
FBRSL1-associated neurodevelopmental syndrome 0 0 1 0 1
FBXO28-associated epileptic encephalopathy 0 0 1 0 1
FRAXE 0 0 1 0 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 0 1 0 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 0 1 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 1
Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1 0 0 1 0 1
Familial cold autoinflammatory syndrome 3 0 0 1 0 1
Familial encephalopathy with neuroserpin inclusion bodies 0 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 1
Familial hyperthyroidism due to mutations in TSH receptor 0 0 1 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 1 0 0 1
Familial temporal lobe epilepsy 5 0 0 1 0 1
Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2 0 0 1 0 1
Fanconi anemia complementation group D2 0 0 1 0 1
Febrile seizure (within the age range of 3 months to 6 years) 0 0 1 0 1
Fibrous dysplasia of jaw 0 0 1 0 1
Finnish type amyloidosis 0 0 1 0 1
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0 0 1 0 1
Fragile X syndrome 0 0 1 0 1
Fraser syndrome 3 0 0 1 0 1
Freeman-Sheldon syndrome 0 0 1 0 1
Freeman-Sheldon syndrome; Arthrogryposis, distal, type 2B3 0 0 1 0 1
Fumarase deficiency 0 0 1 0 1
GABRA4-related Epileptic and Neurodevelopmental Disorder 0 0 1 0 1
GABRE-related epilepsy 0 0 1 0 1
GIGYF1-associated neurodevelopmental disorder 0 0 1 0 1
GM3 synthase deficiency 0 0 1 0 1
GNAI1 associated Neurodevelopmental disorder 0 0 1 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 1
Gallbladder disease 4; Sitosterolemia 1 0 0 1 0 1
Galloway-Mowat syndrome 8 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 0 1 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 1 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 0 0 1 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 0 0 1 0 1
Genitopatellar syndrome 0 0 1 0 1
Glaucoma 3, primary congenital, E 0 1 0 0 1
Glucocorticoid deficiency 5 0 0 1 0 1
Glycine encephalopathy 1 0 0 1 0 1
Glycogen storage disease IXb 0 0 1 0 1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 0 0 1 0 1
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 1 0 1
Glycosylphosphatidylinositol biosynthesis defect 16 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 21 0 1 0 0 1
Gorlin syndrome 0 0 1 0 1
Grange syndrome 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 0 1 0 1
Gray platelet syndrome 0 0 1 0 1
Greig cephalopolysyndactyly syndrome 0 0 1 0 1
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 0 1 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 1
Growth delay due to insulin-like growth factor type 1 deficiency 0 0 1 0 1
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 1 0 1
H syndrome 0 0 1 0 1
HCN2-associated Epilepsy syndrome 0 0 1 0 1
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 0 0 1 0 1
HMGB1-related Developmental delay and microcephaly 0 0 1 0 1
HSD10 mitochondrial disease 0 1 0 0 1
Hearing loss, autosomal dominant 37 0 0 1 0 1
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0 0 1 0 1
Hereditary diffuse leukoencephalopathy with spheroids; Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 1 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 1
Hereditary factor XI deficiency disease 0 1 0 0 1
Hereditary fructosuria 1 0 0 0 1
Hereditary spastic paraplegia 17; Neuronopathy, distal hereditary motor, type 5C 0 0 1 0 1
Hereditary spastic paraplegia 4 0 0 1 0 1
Hereditary spastic paraplegia 50 0 0 1 0 1
Hereditary spastic paraplegia 52 0 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 1
Hereditary spastic paraplegia 75 0 0 1 0 1
Hermansky-Pudlak syndrome 9 0 0 1 0 1
Hirschsprung disease, cardiac defects, and autonomic dysfunction 0 0 1 0 1
Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 0 0 1 0 1
Holoprosencephaly 2 1 0 0 0 1
Holoprosencephaly 5 0 0 1 0 1
Holoprosencephaly sequence 0 0 1 0 1
Houge-Janssens syndrome 2 0 0 1 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 0 0 1 0 1
Hyper-IgE recurrent infection syndrome 4, autosomal recessive 0 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 0 1
Hypercholesterolemia, familial, 4 0 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13 0 0 1 0 1
Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 1 0 1
Hyperlipidemia, familial combined, LPL related 1 0 0 0 1
Hyperlysinemia 0 0 1 0 1
Hyperphenylalaninemia due to DNAJC12 deficiency 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 0 1 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 0 1 0 1
Hyperphosphatasia with intellectual disability syndrome 5 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 0 1 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 1
Hypertrophic cardiomyopathy 14 0 0 1 0 1
Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 0 0 1 0 1
Hypertrophic cardiomyopathy 25 0 0 1 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D 0 1 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 1
Hypertrophic cardiomyopathy 7 0 1 0 0 1
Hypertrophic cardiomyopathy 8 0 0 1 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 1 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 0 0 1 0 1
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 1
IGDCC4-related developmental disorder 0 0 1 0 1
ILK-related cardiomyopathy 0 0 1 0 1
Immunodeficiency 11b with atopic dermatitis 0 0 1 0 1
Immunodeficiency 14 0 0 1 0 1
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 0 1 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1 0 0 1 0 1
Immunodeficiency 35 0 0 1 0 1
Immunodeficiency 45 0 0 1 0 1
Immunodeficiency 70 0 0 1 0 1
Immunodeficiency and Autoimmune Enterocolopathy 0 0 1 0 1
Immunodeficiency due to CD25 deficiency 0 0 1 0 1
Immunodeficiency, common variable, 12 0 1 0 0 1
Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 0 0 1 0 1
Immunoskeletal dysplasia with neurodevelopmental abnormalities 0 1 0 0 1
Inborn glycerol kinase deficiency 0 0 1 0 1
Infantile-onset generalized dyskinesia with orofacial involvement 0 0 1 0 1
Inflammatory bowel disease 29 0 0 1 0 1
Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 0 1 0 1
Inflammatory skin and bowel disease, neonatal, 1 0 0 1 0 1
Inherited prekallikrein deficiency 0 0 1 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 1 0 1
Intellectual developmental disorder 59 1 0 0 0 1
Intellectual developmental disorder 60 with seizures 1 0 0 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 1 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 1 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 1 0 1
Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 1 0 0 1
Intellectual developmental disorder with short stature and behavioral abnormalities 0 0 1 0 1
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0 0 1 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 65 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 0 1
Intellectual developmental disorder, autosomal recessive 68 0 0 1 0 1
Intellectual disability, FRA12A type 0 0 1 0 1
Intellectual disability, X-linked 100 0 0 1 0 1
Intellectual disability, X-linked 102 0 0 1 0 1
Intellectual disability, X-linked 30 0 0 1 0 1
Intellectual disability, X-linked 72; Early-onset parkinsonism-intellectual disability syndrome 0 0 1 0 1
Intellectual disability, X-linked 90 0 0 1 0 1
Intellectual disability, X-linked 97 0 0 1 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 0 1 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 58 0 0 1 0 1
Intellectual disability, autosomal recessive 1 0 0 1 0 1
Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15 0 0 1 0 1
Intellectual disability, autosomal recessive 18 0 0 1 0 1
Intellectual disability, autosomal recessive 44 1 0 0 0 1
Intellectual disability, autosomal recessive 46 0 0 1 0 1
Intellectual disability, autosomal recessive 5 0 0 1 0 1
Intellectual disability, autosomal recessive 54 0 0 1 0 1
Intellectual disability, autosomal recessive 64 0 0 1 0 1
Intellectual disability, autosomal recessive 7 0 0 1 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 1
Intestinal hypomagnesemia 1 0 0 1 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 1 0 0 1
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 0 1
Isovaleryl-CoA dehydrogenase deficiency 0 1 0 0 1
JADE2-associated Neurodevelopmental Disorder 0 0 1 0 1
JARID2-related Neurodevelopmental Disorder 0 0 1 0 1
JARID2-related Neurodevelopmental syndrome 0 0 1 0 1
JMJD1C-related Neurodevelopmental disorder 0 0 1 0 1
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 0 0 1 0 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 1 0 1
Joubert syndrome 21 1 0 0 0 1
Joubert syndrome 23 0 1 0 0 1
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 1 0 0 0 1
Joubert syndrome 27 0 1 0 0 1
Joubert syndrome 3 0 1 0 0 1
Joubert syndrome 32; Basal cell nevus syndrome 2 0 1 0 0 1
Joubert syndrome 40; Spermatogenic failure 58 0 0 1 0 1
Joubert syndrome 6 0 0 1 0 1
KATNAL2-related autism 0 0 1 0 1
KCNAB2-related epilepsy 0 0 1 0 1
KCND2-associated neurodevelopmental syndrome 0 0 1 0 1
KCNN2-related Neurodevelopmental movement disorder 0 0 1 0 1
KCNQ1-related epilepsy 0 0 1 0 1
KCNQ3-related Autism and developmental disability 1 0 0 0 1
KDM5A-associated neurodevelopmental syndrome 0 0 1 0 1
KDM5A-related Neurodevelopmental disorder with autism 0 0 1 0 1
KIF16B-related Intellectual Disability 0 0 1 0 1
KINSSHIP syndrome 0 0 1 0 1
Keppen-Lubinsky syndrome 0 0 1 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 0 1 0 1
Kury-Isidor syndrome 0 0 1 0 1
LAMC1-associated syndrome 0 0 1 0 1
LAMC1-related autism spectrum disorder 0 0 1 0 1
LRP1B-associated developmental disorder 0 0 1 0 1
Lafora disease 0 0 1 0 1
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency 0 0 1 0 1
Left ventricular noncompaction 1 0 0 1 0 1
Lethal congenital contracture syndrome 4 1 0 0 0 1
Lethal polymalformative syndrome, Boissel type 0 0 1 0 1
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 1 0 1
Leukoencephalopathy with vanishing white matter 1 0 0 1 0 1
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0 0 1 0 1
Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia 0 0 1 0 1
Lissencephaly 10 0 0 1 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 1
Long QT syndrome 10 0 0 1 0 1
Long QT syndrome 15 0 0 1 0 1
Long QT syndrome 16 0 0 1 0 1
Long QT syndrome 3 0 0 1 0 1
Long QT syndrome 5 0 0 1 0 1
Long QT syndrome 8 0 0 1 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 1 0 0 0 1
Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 0 0 1 0 1
Lynch syndrome 4 1 0 0 0 1
Lynch syndrome 5 1 0 0 0 1
MAP2-associated Neurodevelopmental Disorder 0 0 1 0 1
MAST-associated epilepsy syndrome 0 0 1 0 1
MAST4-associated generalized epilepsy 0 0 1 0 1
MDGA2-related intellectual disability 0 0 1 0 1
MT-CYB associated Exercise intolerance; MT-CYB associated Mitochondrial myopathy 0 1 0 0 1
MYLK3-associated cardiomyopathy 0 0 1 0 1
Macrocephaly-autism syndrome 1 0 0 0 1
Macrocephaly-developmental delay syndrome 0 1 0 0 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 1
Malan overgrowth syndrome 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 5 1 0 0 0 1
Maple syrup urine disease 0 1 0 0 1
Marshall syndrome 0 0 1 0 1
Marshall syndrome; Stickler syndrome type 2 0 0 1 0 1
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 0 0 1 0 1
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 0 0 1 0 1
Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 0 0 1 0 1
Meckel syndrome, type 10 0 0 1 0 1
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 0 0 1 0 1
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2 0 0 1 0 1
Meckel syndrome, type 9; Joubert syndrome 27 0 0 1 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 1
Megabladder, congenital 0 1 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 1 0 1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 0 0 1 1
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 0 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 0 1 0 1
Metaphyseal anadysplasia 2 0 0 1 0 1
Methylcobalamin deficiency type cblE 0 0 1 0 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 0 0 1 0 1
Microcephaly 14, primary, autosomal recessive 0 1 0 0 1
Microcephaly 17, primary, autosomal recessive 0 0 1 0 1
Microcephaly 8, primary, autosomal recessive 0 1 0 0 1
Microcephaly, epilepsy, and diabetes syndrome 0 0 1 0 1
Microcephaly, growth deficiency, seizures, and brain malformations 0 0 1 0 1
Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 0 1 0 1
Microcephaly, short stature, and limb abnormalities 0 1 0 0 1
Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities 0 1 0 0 1
Microphthalmia, syndromic 1; Ogden syndrome 0 0 1 0 1
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 0 1 0 1
Migraine, familial hemiplegic, 2 0 0 1 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 1
Migraine, with or without aura, susceptibility to, 13 0 0 1 0 1
Mismatch repair cancer syndrome 1 0 0 1 0 1
Mitchell syndrome 0 0 1 0 1
Mitochondrial DNA depletion syndrome 1 0 0 1 0 1
Mitochondrial DNA depletion syndrome 16 (hepatic type) 0 0 1 0 1
Mitochondrial DNA depletion syndrome, myopathic form; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 11 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 19 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 22 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 26 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 3 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 33 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 4 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 9 0 0 1 0 1
Mitochondrial complex II deficiency, nuclear type 1 0 0 1 0 1
Mitochondrial complex IV deficiency, nuclear type 1 0 0 1 0 1
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome 0 0 1 0 1
Mucocutaneous ulceration, chronic 0 0 1 0 1
Mucopolysaccharidosis type 7 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-A 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-C 0 0 1 0 1
Muenke syndrome 0 0 1 0 1
Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 1 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 1 0 1
Multiple endocrine neoplasia, type 1 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 0 0 1 0 1
Myasthenic syndrome, congenital, 24, presynaptic 0 0 1 0 1
Myoclonic dystonia 11 0 0 1 0 1
Myoclonic epilepsy of Lafora 2 0 0 1 0 1
Myoclonic epilepsy, juvenile, susceptibility to, 1 0 0 1 0 1
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 0 0 1 0 1
Myopathy, congenital, with tremor 0 0 1 0 1
Myopathy, tubular aggregate, 1 0 0 1 0 1
NCKAP1-associated Neurodevelopmental disorder 0 1 0 0 1
NCOR1-related Neurodevelopmental disorder 0 0 1 0 1
NCOR1-related autism spectrum disorder 0 0 1 0 1
NEBL-related Cardiomyopathy 0 0 1 0 1
NRXN1-related Complex neurodevelopmental disorder 0 0 1 0 1
NRXN2-associated Neurodevelopmental disorder 0 0 1 0 1
NRXN2-related Austism Spectrum Disorder 0 0 1 0 1
NRXN2-related autism spectrum disorder 0 0 1 0 1
NRXN3-associated neurodevelopmental disorder 0 0 1 0 1
Nager syndrome 0 0 1 0 1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 0 0 1
Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 1 0 1
Nephrotic syndrome, type 18; Galloway-Mowat syndrome 8 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5 0 0 1 0 1
Neurodegeneration with brain iron accumulation 6 0 0 1 0 1
Neurodegeneration with brain iron accumulation 8 0 0 1 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 1 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 0 1 0 0 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis 0 1 0 0 1
Neurodevelopmental disorder with or without autism or seizures 0 0 1 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 1 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 0 1 0 1
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with variable cerebral and eye anomalies 0 1 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 0 1 0 1
Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 1 0 0 0 1
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 1 0 1
Neuronal ceroid lipofuscinosis 10 0 0 1 0 1
Neuronal ceroid lipofuscinosis 11 1 0 0 0 1
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 0 0 1 0 1
Neuronal ceroid lipofuscinosis 7 0 0 1 0 1
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 0 0 1 0 1
Neuroocular syndrome 1 0 0 0 1
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 0 1 0 1
Niemann-Pick disease, type A 0 0 1 0 1
Niemann-Pick disease, type B; Niemann-Pick disease, type A 0 0 1 0 1
Noonan syndrome 10 0 0 1 0 1
Noonan syndrome 1; LEOPARD syndrome 1 1 0 0 0 1
Noonan syndrome 2; Noonan syndrome 10 0 0 1 0 1
Noonan syndrome 5 0 0 1 0 1
Noonan syndrome 6 1 0 0 0 1
Noonan syndrome 7 1 0 0 0 1
Noonan syndrome 8 0 0 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 1 0 1
Norman-Roberts syndrome 0 0 1 0 1
Obesity due to CEP19 deficiency 0 0 1 0 1
Obesity due to pro-opiomelanocortin deficiency; Obesity 0 0 1 0 1
Obesity due to prohormone convertase I deficiency 0 0 1 0 1
Obesity with Prader-Willi like phenotype 0 0 1 0 1
Obesity, hyperphagia, and developmental delay 0 0 1 0 1
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 1 0 0 0 1
Oculodentodigital dysplasia 0 1 0 0 1
Odonto-onycho-dermal dysplasia; Schöpf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 1 0 0 0 1
Ogden syndrome 0 0 1 0 1
Orofacial cleft 1 0 0 1 0 1
Orofaciodigital syndrome type 14 0 1 0 0 1
Orthostatic hypotension 1 1 0 0 0 1
Otofaciocervical syndrome 2 0 0 1 0 1
PEHO syndrome 0 1 0 0 1
PGLYRP3-associated inflamatory bowel disease 0 0 1 0 1
PIK3AP1-Associated Seizure Disorder 0 0 1 0 1
PIK3AP1-related early onset epileptic encephalopathy 0 0 1 0 1
PLXNA1-associated encephalopathy 0 0 1 0 1
PLXNA1-related Neurodevelopmental disorder with variable cerebral and eye anomalies 0 0 1 0 1
PLXNA3-associated seizure disorder 0 0 1 0 1
PLXNB3-related Intellectual disability 0 0 1 0 1
PPARG-related familial partial lipodystrophy 1 0 0 0 1
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus 0 0 1 0 1
PPP1R13L-associated cardiac phenotype 0 0 1 0 1
PPR12-associated neurodevelopmental disorder 0 0 1 0 1
PRICKLE2-associated epilepsy syndrome 0 0 1 0 1
PRR12-associated Intellectual Disability 0 0 1 0 1
PRR12-related neuroocular syndrome 0 0 1 0 1
PTPN4-related Neurodevelopmental Disorder 0 0 1 0 1
PTPRT-associated neurodevelopmentaldisorder 0 0 1 0 1
PUM1-associated developmental disability-ataxia-seizure syndrome 0 0 1 0 1
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 0 1 0 1
Pachyonychia congenita 3 0 0 1 0 1
Pancreatic agenesis 2 0 0 1 0 1
Pancytopenia-developmental delay syndrome 0 0 1 0 1
Parenti-mignot neurodevelopmental syndrome 0 0 1 0 1
Paroxysmal extreme pain disorder 0 0 1 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 1
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 0 0 1 0 1
Patent ductus arteriosus 3 0 0 1 0 1
Peeling skin syndrome 1 0 0 1 0 1
Pelger-Huët anomaly 0 0 1 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 1 0 1
Peroxisome biogenesis disorder 3A (Zellweger) 0 1 0 0 1
Pettigrew syndrome 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 3 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 0 1 0 0 1
Pierpont syndrome 0 0 1 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 1
Pituitary hormone deficiency, combined, 2 1 0 0 0 1
Pityriasis rubra pilaris; Psoriasis 2 0 0 1 0 1
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 0 1 0 1
Poirier-Bienvenu neurodevelopmental syndrome 1 0 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 1
Pontocerebellar hypoplasia type 2D 0 1 0 0 1
Pontocerebellar hypoplasia type 8 1 0 0 0 1
Pontocerebellar hypoplasia, type 14 0 0 1 0 1
Porokeratosis 7, multiple types 0 0 1 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 1 0 1
Primary ciliary dyskinesia 35 0 0 1 0 1
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 0 1 0 1
Progressive demyelinating neuropathy with bilateral striatal necrosis 0 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; Mitochondrial DNA depletion syndrome 16 (hepatic type) 0 0 1 0 1
Progressive myoclonic epilepsy type 3 0 1 0 0 1
Progressive myoclonic epilepsy type 9 0 0 1 0 1
Progressive sclerosing poliodystrophy 0 0 1 0 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 1
Prolidase deficiency 0 0 1 0 1
Proteasome-associated autoinflammatory syndrome 4 0 0 1 0 1
Prune belly syndrome 0 0 1 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 0 1 0 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 1 0 0 0 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 0 1 0 1
Pseudoxanthoma elasticum, forme fruste 0 0 1 0 1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 0 1 0 1
Pulmonary arterial hypertension 0 1 0 0 1
Pulmonary hypertension, primary, 2 0 0 1 0 1
Pulmonary hypertension, primary, 3 0 0 1 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 0 1 0 1
Quebec platelet disorder 0 0 1 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 1 0 1
Rahman syndrome 0 0 1 0 1
Rauch-Steindl syndrome 1 0 0 0 1
Renal hypomagnesemia 2 0 0 1 0 1
Retinitis pigmentosa 73 0 0 1 0 1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 1 0 1
Rothmund-Thomson syndrome type 2 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 0 1 0 1
SATB1-related neurodevelopmental disorder 0 0 1 0 1
SCAF4-associated Neurodevelopmental disorder 0 0 1 0 1
SEMA5A-associated Neurodevelopmental syndrome 0 0 1 0 1
SETD2 associated neurodevelopmental disorder with multiple congenital anomalies 1 0 0 0 1
SHANK1-related Neurodevelopmental Disorder 0 0 1 0 1
SHANK2-related Complex neurodevelopmental disorder 0 0 1 0 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation 0 0 1 0 1
SHORT syndrome; Immunodeficiency 36 with lymphoproliferation 0 0 1 0 1
SIM1-related obesity 0 0 1 0 1
SLC6A20-related Neurodevelopmental Disorder 0 0 1 0 1
SNX25-related autism spectrum disorder 0 0 1 0 1
SORBS1-associated Hirschsprung disease 0 0 1 0 1
SRGAP2-associated Neurodevelopmental Disorder 0 0 1 0 1
SRRM2-related Neurodevelopmental disorder 0 0 1 0 1
SSR4-congenital disorder of glycosylation 0 0 1 0 1
STARD9-related Intellectual Disability 0 0 1 0 1
STING-associated vasculopathy with onset in infancy 0 0 1 0 1
SYNCRIP-related Intellectual Disability 0 0 1 0 1
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 0 0 1 0 1
Sandhoff disease 0 1 0 0 1
Schinzel-Giedion syndrome 0 0 1 0 1
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 0 0 1 0 1
Seckel syndrome 1 0 0 1 0 1
Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 0 1 0 0 1
Seizure; Intellectual disability 0 0 1 0 1
Seizures, benign familial infantile, 2 1 0 0 0 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 0 0 1 0 1
Seizures, benign familial infantile, 3 0 0 1 0 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 0 0 1 0 1
Seizures-scoliosis-macrocephaly syndrome 0 0 1 0 1
Sengers syndrome 0 0 1 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency 0 0 1 0 1
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 1 0 1
Severe combined immunodeficiency due to LAT deficiency 0 0 1 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 1 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 0 0 1 0 1
Severe neurodegenerative syndrome with lipodystrophy 0 0 1 0 1
Short QT syndrome 7 0 0 1 0 1
Short QT syndrome type 1 0 0 1 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 1 0 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Infantile liver failure syndrome 2 0 0 1 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 1 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 1 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 0 1 0 0 1
Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 1
Sialuria 0 0 1 0 1
Sick sinus syndrome 2, autosomal dominant; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 1 0 1
Singleton-Merten syndrome 2 0 0 1 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 0 0 0 1
Specific granule deficiency 1 0 0 1 0 1
Spinocerebellar ataxia 47 0 0 1 0 1
Spinocerebellar ataxia type 13 0 0 1 0 1
Spinocerebellar ataxia type 19/22 0 0 1 0 1
Spinocerebellar ataxia type 26 0 0 1 0 1
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 0 1 0 1
Spinocerebellar ataxia type 35 0 0 1 0 1
Spondyloepiphyseal dysplasia, Kimberley type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 0 0 1
Spondyloepiphyseal dysplasia, Kimberley type; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 1 0 1
Squalene synthase deficiency 0 1 0 0 1
Stickler syndrome type 2 0 0 1 0 1
Sucrase-isomaltase deficiency 0 0 1 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0 1 0 0 1
Supravalvar aortic stenosis 0 0 1 0 1
Surfactant metabolism dysfunction, pulmonary, 2 0 1 0 0 1
Syndromic X-linked intellectual disability Lubs type 1 0 0 0 1
Syndromic X-linked intellectual disability Shashi type 0 0 1 0 1
Syndromic intellectual disability 0 0 1 0 1
Systemic lupus erythematosus 0 0 1 0 1
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 0 1 0 1
TAF1C-Associated Neurodevelopmental Disorder 0 0 1 0 1
TAOK1-related neurodevelopmental disorder 0 0 1 0 1
TCF7L2-related Intellectual disability 0 0 1 0 1
TCF7L2-relatedIntellectual disability 0 0 1 0 1
TFE3-Associated Neurodevelopmental disorder 0 0 1 0 1
TMEM63B-related Neurodevelopmental disorder 0 0 1 0 1
TNK2-associated Epilepsy syndrome 0 0 1 0 1
TOP2B-related neurodevelopmental disorder 0 0 1 0 1
TRPM3-associated epilepsy syndrome 0 0 1 0 1
TRPM3-related Intellectual Disability and Epilepsy 0 0 1 0 1
TWIST1-related craniosynostosis; Saethre-Chotzen syndrome 0 0 1 0 1
TXNRD2-associated Cardiomyopathy 0 0 1 0 1
Tay-Sachs disease 1 0 0 0 1
Teebi hypertelorism syndrome 1 0 0 1 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 1 0 0 0 1
Temple-Baraitser syndrome 0 0 1 0 1
Temtamy syndrome 0 0 1 0 1
Tetralogy of Fallot 0 0 1 0 1
Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive 0 1 0 0 1
Thyroid dyshormonogenesis 6 0 0 1 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 0 1 0 1
Tolchin-Le Caignec syndrome 0 0 1 0 1
Torsion dystonia 6 0 0 1 0 1
Townes-Brocks syndrome 1 0 0 1 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Trichohepatoenteric syndrome 1 0 0 1 0 1
Trigonocephaly 2 0 0 1 0 1
Turnpenny-fry syndrome 0 0 1 0 1
Type 1 diabetes mellitus 2; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 1 0 1
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia 0 0 1 0 1
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 0 0 1 0 1
Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 0 0 1 0 1
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2 0 1 0 0 1
Type II complement component 8 deficiency 0 0 1 0 1
UBN2 associated Autism susceptibility 0 0 1 0 1
UNC13B-related seizure disorder 0 0 1 0 1
Unverricht-Lundborg syndrome 0 0 1 0 1
Usher syndrome type 2A 0 0 1 0 1
VACTERL association, X-linked, with or without hydrocephalus 0 1 0 0 1
VRK2-related Epilepsy syndrome 0 0 1 0 1
Van der Woude syndrome 2 0 1 0 0 1
Variegate porphyria 0 0 1 0 1
Velocardiofacial syndrome; DiGeorge syndrome 0 1 0 0 1
Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9 0 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 1 0 1
Vesicoureteral reflux 3 0 0 1 0 1
Vitamin D-dependent rickets type II with alopecia 0 0 1 0 1
Vitamin K-dependent clotting factors, combined deficiency of, type 1 0 1 0 0 1
Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 0 0 1 0 1
Waardenburg syndrome type 2E 0 0 1 0 1
Warburg micro syndrome 2; Martsolf syndrome 1 0 0 1 0 1
Weaver syndrome 0 0 1 0 1
Weill-Marchesani 4 syndrome, recessive 0 0 1 0 1
Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 0 1 0 1
Wiskott-Aldrich syndrome 2 0 0 1 0 1
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome 0 0 1 0 1
Wolfram-like syndrome 0 0 1 0 1
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 0 0 1 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 1
X-linked intellectual disability, van Esch type 0 0 1 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 0 0 1 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 1
X-linked progressive cerebellar ataxia 0 0 1 0 1
Xq25 microduplication syndrome 1 0 0 0 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 0 0 1 0 1
not specified 0 0 1 0 1
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 1 0 0 0 1
von Willebrand disease type 2 0 1 0 0 1

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