ClinVar Miner

Variants from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Location: Germany  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
2461 1254 184 1 1 3901

Gene and significance breakdown #

Total genes and gene combinations: 1358
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 82 17 1 0 0 100
ABCA4 58 21 2 0 0 81
BRCA2 58 6 0 0 0 64
USH2A 41 14 2 0 0 57
SPAST 40 12 1 0 0 53
BRCA1 41 6 0 0 0 47
RPGR 37 5 0 0 0 42
ATM 17 11 1 0 0 29
MYO7A 19 9 1 0 0 29
OPA1 22 6 0 0 0 28
CACNA1A 15 11 1 0 0 27
MECP2 22 2 0 0 0 24
PALB2 16 6 1 0 0 23
ANKRD11 18 2 1 0 0 21
CHD7 18 2 1 0 0 21
EYS 17 4 0 0 0 21
PRPH2 15 6 0 0 0 21
ARID1B 14 5 0 0 0 19
ATM, C11orf65 15 3 1 0 0 19
PTPN11 16 3 0 0 0 19
CNGA3 15 3 0 0 0 18
CHEK2 6 10 0 0 0 16
RP1 15 1 0 0 0 16
SPG7 11 4 0 0 0 15
BRCA1, LOC126862571 13 0 0 0 1 14
CDKL5, RS1 10 3 1 0 0 14
RHO 9 5 0 0 0 14
BEST1 8 5 0 0 0 13
CHM 10 3 0 0 0 13
GJB2 12 1 0 0 0 13
KIF1A 2 11 0 0 0 13
MYBPC3 11 2 0 0 0 13
PTEN 10 3 0 0 0 13
SACS 11 0 2 0 0 13
CRB1 11 1 0 0 0 12
FBN1 9 3 0 0 0 12
KIF5A 7 4 1 0 0 12
PDE6A 4 8 0 0 0 12
PRPF31 6 6 0 0 0 12
RPE65 7 5 0 0 0 12
STXBP1 9 3 0 0 0 12
ANO5 6 5 0 0 0 11
CEP290 8 1 2 0 0 11
EHMT1 8 3 0 0 0 11
KMT2A 11 0 0 0 0 11
TSC2 10 1 0 0 0 11
TTN 4 6 1 0 0 11
ADNP 8 2 0 0 0 10
APC 9 1 0 0 0 10
ATL1 7 2 1 0 0 10
COL2A1 6 4 0 0 0 10
KMT2D 6 3 1 0 0 10
MSH6 10 0 0 0 0 10
POLG 10 0 0 0 0 10
POLR3A 9 1 0 0 0 10
TRIO 5 5 0 0 0 10
ABCD1, PLXNB3 5 4 0 0 0 9
AR 5 4 0 0 0 9
CYP27A1 8 1 0 0 0 9
KIF1C 1 8 0 0 0 9
MERTK 2 7 0 0 0 9
MPZ 4 5 0 0 0 9
NOTCH3 7 2 0 0 0 9
NR2E3 8 1 0 0 0 9
PSEN1 8 1 0 0 0 9
PURA 4 4 1 0 0 9
SETD5 8 1 0 0 0 9
SPG11 9 0 0 0 0 9
TCF4 7 2 0 0 0 9
ABCA4, LOC126805793 4 4 0 0 0 8
BEST1, FTH1 4 4 0 0 0 8
BRIP1 4 2 2 0 0 8
CASD1, SGCE 5 2 1 0 0 8
DDX3X 5 3 0 0 0 8
FOXP1 6 2 0 0 0 8
LZTR1 2 5 1 0 0 8
PCARE 8 0 0 0 0 8
PCDH15 5 3 0 0 0 8
PDHA1 3 4 1 0 0 8
POGZ 5 3 0 0 0 8
RAI1 5 3 0 0 0 8
SCN2A 4 4 0 0 0 8
SHANK3 8 0 0 0 0 8
SYNE1 8 0 0 0 0 8
TUBA1A 1 6 1 0 0 8
WAC 6 2 0 0 0 8
ABCD1 5 2 0 0 0 7
ARSA 6 1 0 0 0 7
BARD1 4 3 0 0 0 7
BCL11A 2 5 0 0 0 7
CACNA1F 5 2 0 0 0 7
CHD2 5 2 0 0 0 7
CTNNB1 6 1 0 0 0 7
DYRK1A 4 3 0 0 0 7
EP300 4 3 0 0 0 7
FLNC 4 3 0 0 0 7
KCNQ1 6 1 0 0 0 7
MUTYH 6 1 0 0 0 7
MYH7 4 2 1 0 0 7
PDE6B 3 3 1 0 0 7
PNPLA6 3 3 1 0 0 7
RYR1 4 3 0 0 0 7
SCN5A 4 3 0 0 0 7
SYNGAP1 6 1 0 0 0 7
TP53 4 3 0 0 0 7
TULP1 7 0 0 0 0 7
VPS13B 5 2 0 0 0 7
ADGRV1 4 2 0 0 0 6
AFG2A 1 2 3 0 0 6
ATP7B 5 1 0 0 0 6
CAPN1 6 0 0 0 0 6
CDH23 2 4 0 0 0 6
CDHR1 4 2 0 0 0 6
CERKL 4 2 0 0 0 6
CHD8 5 1 0 0 0 6
CLASP1, RNU4ATAC 3 3 0 0 0 6
COL1A1 3 3 0 0 0 6
COL4A5 2 4 0 0 0 6
CREBBP 3 3 0 0 0 6
FAM161A 5 1 0 0 0 6
FOXG1 6 0 0 0 0 6
FOXP2 3 3 0 0 0 6
GJB1 4 2 0 0 0 6
GRN 6 0 0 0 0 6
KAT6B 4 2 0 0 0 6
KCND3 3 3 0 0 0 6
KCNH2 5 1 0 0 0 6
KCNQ2 4 2 0 0 0 6
KDM5C 3 3 0 0 0 6
LDLR 5 1 0 0 0 6
MED13L 5 1 0 0 0 6
MLH1 4 1 1 0 0 6
PKD1 4 2 0 0 0 6
POLR3B 5 1 0 0 0 6
PRKCG 2 2 2 0 0 6
RAD51C 1 5 0 0 0 6
SCN8A 2 2 2 0 0 6
SETBP1 4 2 0 0 0 6
SLC6A1 4 2 0 0 0 6
SOS1 5 1 0 0 0 6
SPTAN1 2 4 0 0 0 6
TRIP12 3 3 0 0 0 6
ZNF292 2 4 0 0 0 6
ACTB 1 4 0 0 0 5
ALMS1 5 0 0 0 0 5
ASPM 5 0 0 0 0 5
ATP1A3 4 1 0 0 0 5
BCL11B 4 1 0 0 0 5
CBS 3 2 0 0 0 5
CEP78 1 4 0 0 0 5
CLCN1 3 2 0 0 0 5
DMD 4 1 0 0 0 5
DSP 1 3 1 0 0 5
DYNC2H1 1 4 0 0 0 5
ELANE 2 3 0 0 0 5
FGFR3 5 0 0 0 0 5
FH 3 1 1 0 0 5
FLVCR1 2 3 0 0 0 5
GLI3 2 3 0 0 0 5
GREB1L 4 0 1 0 0 5
GUCA1A, GUCA1ANB-GUCA1A 3 2 0 0 0 5
HEXA 3 2 0 0 0 5
KLHL7 2 3 0 0 0 5
KMT5B 1 4 0 0 0 5
LMNA 2 2 1 0 0 5
LOC126862264, MEFV 4 1 0 0 0 5
MT-ATP6 4 1 0 0 0 5
NBEA 0 4 1 0 0 5
NEXMIF 5 0 0 0 0 5
NF2 1 3 1 0 0 5
NLRP3 3 1 1 0 0 5
NPC1 4 1 0 0 0 5
PCDH19 2 2 1 0 0 5
PKD2 4 1 0 0 0 5
PKP2 5 0 0 0 0 5
PMM2 4 1 0 0 0 5
RAD51D, RAD51L3-RFFL 3 2 0 0 0 5
RB1 5 0 0 0 0 5
REEP1 3 2 0 0 0 5
RIT1 4 1 0 0 0 5
SATB2 4 1 0 0 0 5
SH3TC2 3 2 0 0 0 5
SLC20A2 3 2 0 0 0 5
SLC2A1 2 3 0 0 0 5
SNHG14, UBE3A 3 1 1 0 0 5
SPEN 2 3 0 0 0 5
TAOK1 0 3 2 0 0 5
TBK1 3 1 1 0 0 5
TMPRSS3 3 1 1 0 0 5
TUBB3 5 0 0 0 0 5
TUBB4B 2 0 3 0 0 5
WDR45 4 0 1 0 0 5
AMPD1 1 1 2 0 0 4
ARFGEF1 0 3 1 0 0 4
ASXL3 2 2 0 0 0 4
ATRX 3 1 0 0 0 4
B3GALNT2 3 0 1 0 0 4
BRPF1 4 0 0 0 0 4
CASK 2 2 0 0 0 4
CCNH, RASA1 1 3 0 0 0 4
CHD3 1 2 1 0 0 4
CIC 2 2 0 0 0 4
CLRN1 2 2 0 0 0 4
CNGB3 3 1 0 0 0 4
CNKSR2 3 1 0 0 0 4
COL4A1 1 3 0 0 0 4
COQ4 1 3 0 0 0 4
CSF1R 2 1 1 0 0 4
CUL3 0 4 0 0 0 4
CYP7B1 4 0 0 0 0 4
DHCR7 2 2 0 0 0 4
DLG3 2 1 1 0 0 4
EBF3 3 1 0 0 0 4
EIF2B5 3 1 0 0 0 4
ERCC4 3 1 0 0 0 4
FBXO11 0 4 0 0 0 4
FGFR2 4 0 0 0 0 4
GNAO1 3 0 1 0 0 4
GRIN2A 1 2 1 0 0 4
IL1RAPL1 0 4 0 0 0 4
IMPG2 3 1 0 0 0 4
IRF2BPL 3 1 0 0 0 4
KAT6A 3 1 0 0 0 4
KCNJ2 4 0 0 0 0 4
KMT2E 3 1 0 0 0 4
LAMB1 1 3 0 0 0 4
LAMP2 4 0 0 0 0 4
LOC102724058, SCN1A 1 2 1 0 0 4
LOC122152296, USH2A 3 1 0 0 0 4
MAN2B1 3 1 0 0 0 4
MSH2 3 1 0 0 0 4
NAGLU 2 2 0 0 0 4
NALCN 1 3 0 0 0 4
NKX2-1, SFTA3 2 2 0 0 0 4
NUS1 2 2 0 0 0 4
OCRL 2 2 0 0 0 4
PHIP 1 3 0 0 0 4
PIEZO2 3 1 0 0 0 4
PIGG 1 3 0 0 0 4
PIK3CA 4 0 0 0 0 4
PMS2 3 0 1 0 0 4
POMGNT1, TSPAN1 3 1 0 0 0 4
PPP2R5D 2 1 1 0 0 4
PROM1 4 0 0 0 0 4
PRPF8 0 4 0 0 0 4
PTCH1 3 1 0 0 0 4
RHOBTB2 1 3 0 0 0 4
RP1L1 3 1 0 0 0 4
RP2 3 1 0 0 0 4
SCAF4 0 4 0 0 0 4
SCN1A 1 3 0 0 0 4
SCN1A, SCN9A 2 1 1 0 0 4
SMARCC2 1 2 1 0 0 4
SON 4 0 0 0 0 4
SOX11 0 4 0 0 0 4
SOX5 2 2 0 0 0 4
SURF1 4 0 0 0 0 4
TUBB4A 3 1 0 0 0 4
UCHL1, UCHL1-DT 2 1 1 0 0 4
WDR26 3 1 0 0 0 4
YARS1 2 1 1 0 0 4
AARS1 1 2 0 0 0 3
ACAN 3 0 0 0 0 3
ADAR 2 1 0 0 0 3
AFG2B 0 2 1 0 0 3
AHDC1 1 2 0 0 0 3
ALPL 2 1 0 0 0 3
ANK1 1 2 0 0 0 3
ANO10 3 0 0 0 0 3
ATP1A2 2 1 0 0 0 3
BAP1, PHF7 0 3 0 0 0 3
BBS7 2 1 0 0 0 3
BBS9 2 1 0 0 0 3
BCL2L2-PABPN1, PABPN1 2 1 0 0 0 3
BLTP1 2 1 0 0 0 3
BRAF 3 0 0 0 0 3
BRWD3 2 1 0 0 0 3
CAPN3 1 2 0 0 0 3
CDK13 2 1 0 0 0 3
CDKL5 3 0 0 0 0 3
CLPB 0 2 1 0 0 3
CLTC 1 1 1 0 0 3
CNGB1 3 0 0 0 0 3
COL1A2 0 2 1 0 0 3
COL3A1 1 2 0 0 0 3
COQ8A 3 0 0 0 0 3
CRX 2 1 0 0 0 3
CSNK2B 0 3 0 0 0 3
CTCF 0 1 2 0 0 3
CTNNB1, LOC126806658 3 0 0 0 0 3
CYP2U1 3 0 0 0 0 3
CYP4V2 1 2 0 0 0 3
DIPK1A, RPL5 3 0 0 0 0 3
DNMT3A 1 2 0 0 0 3
ECM1 3 0 0 0 0 3
EEF1A2 1 2 0 0 0 3
EYS, PHF3 3 0 0 0 0 3
FBXO11, MSH6 1 2 0 0 0 3
FIG4 3 0 0 0 0 3
FLCN 3 0 0 0 0 3
G6PC3 3 0 0 0 0 3
G6PD 2 1 0 0 0 3
GAA 3 0 0 0 0 3
GALC 2 1 0 0 0 3
GALNS 2 0 1 0 0 3
GATAD2B 1 2 0 0 0 3
GFAP 0 3 0 0 0 3
GLB1 3 0 0 0 0 3
GNB1 1 2 0 0 0 3
GNE 2 1 0 0 0 3
GNRHR 2 0 1 0 0 3
GPHN, RDH12 2 1 0 0 0 3
GRIN1 0 3 0 0 0 3
GRIN2B 0 3 0 0 0 3
HIVEP2 3 0 0 0 0 3
HK1 2 1 0 0 0 3
HNRNPK 1 2 0 0 0 3
HPDL 3 0 0 0 0 3
HSPB1 3 0 0 0 0 3
IFIH1 2 1 0 0 0 3
IFT140 2 1 0 0 0 3
IQCB1 3 0 0 0 0 3
IQSEC2 3 0 0 0 0 3
KCNA2 3 0 0 0 0 3
KDM6A 3 0 0 0 0 3
KDM6B, LOC121587574 3 0 0 0 0 3
KIAA0586 3 0 0 0 0 3
KIF11 1 1 1 0 0 3
KMT2B 2 0 1 0 0 3
LOC100507346, PTCH1 3 0 0 0 0 3
LOC108281177, SOX2, SOX2-OT 3 0 0 0 0 3
LOC126861898, MYH7 2 1 0 0 0 3
LRP5 1 2 0 0 0 3
MAK 3 0 0 0 0 3
MAPT 2 1 0 0 0 3
MBD5 1 2 0 0 0 3
MIR1225, PKD1, TSC2 1 2 0 0 0 3
MITF 2 1 0 0 0 3
MME 1 2 0 0 0 3
MMP21 2 0 1 0 0 3
MORC2 2 1 0 0 0 3
MSL2 0 3 0 0 0 3
MYO6 2 0 1 0 0 3
MYT1L 2 0 1 0 0 3
NAA15 2 1 0 0 0 3
NBAS 2 1 0 0 0 3
NR2F1 1 2 0 0 0 3
NSD1 2 1 0 0 0 3
PANK2 0 3 0 0 0 3
PAX6 3 0 0 0 0 3
PGAP1 1 2 0 0 0 3
PIGN 1 1 1 0 0 3
PLA2G6 2 1 0 0 0 3
PNKP 2 1 0 0 0 3
PSMD12 2 1 0 0 0 3
PTPRQ 3 0 0 0 0 3
SBDS 2 1 0 0 0 3
SDHB 3 0 0 0 0 3
SELENON 3 0 0 0 0 3
SETD1A 2 1 0 0 0 3
SETX 3 0 0 0 0 3
SIN3A 2 1 0 0 0 3
SLC19A3 1 2 0 0 0 3
SMARCA2 2 1 0 0 0 3
SOX9 2 1 0 0 0 3
SPTBN2 2 0 1 0 0 3
SZT2 3 0 0 0 0 3
TARDBP 1 0 2 0 0 3
TBCK 0 3 0 0 0 3
TCF20 2 1 0 0 0 3
TG 2 0 1 0 0 3
TLK2 1 2 0 0 0 3
TNRC6B 2 1 0 0 0 3
TSC1 1 2 0 0 0 3
TUBB2A 0 3 0 0 0 3
TYR 1 2 0 0 0 3
UCHL1 0 2 1 0 0 3
UMOD 0 3 0 0 0 3
USH1C 2 1 0 0 0 3
VPS13A 2 1 0 0 0 3
WAS 1 2 0 0 0 3
WT1 3 0 0 0 0 3
YY1 1 1 1 0 0 3
ZC4H2 1 2 0 0 0 3
ZFYVE26 2 1 0 0 0 3
ABCC6 2 0 0 0 0 2
ACO2 0 2 0 0 0 2
ACTA1 1 1 0 0 0 2
ACTG2 1 1 0 0 0 2
ADAMTS13 1 1 0 0 0 2
ADAMTSL4 1 1 0 0 0 2
ADCY5 2 0 0 0 0 2
AFG3L2 0 2 0 0 0 2
AGO1 1 0 1 0 0 2
AGTR1 0 2 0 0 0 2
ALDH7A1 2 0 0 0 0 2
ALG13 1 1 0 0 0 2
ALS2 1 1 0 0 0 2
ANK1, LOC124153154 1 1 0 0 0 2
AP4M1 0 0 2 0 0 2
AP4S1 2 0 0 0 0 2
AP5Z1, MIR4656 0 0 2 0 0 2
APOB 1 0 1 0 0 2
ARID1A 1 1 0 0 0 2
ARX 2 0 0 0 0 2
ASPA, SPATA22 1 1 0 0 0 2
ATP2A2 2 0 0 0 0 2
ATP5ME, PDE6B 1 1 0 0 0 2
BAG3 2 0 0 0 0 2
BBS10 2 0 0 0 0 2
BBS2 2 0 0 0 0 2
BCOR 1 1 0 0 0 2
BRD4 0 1 1 0 0 2
BTD 2 0 0 0 0 2
BTK 0 2 0 0 0 2
C1QTNF5, MFRP 2 0 0 0 0 2
CACNA1C 0 2 0 0 0 2
CACNA1G 1 0 1 0 0 2
CAMTA1 1 1 0 0 0 2
CBL 0 2 0 0 0 2
CCN6 2 0 0 0 0 2
CDH1 2 0 0 0 0 2
CEP120 0 2 0 0 0 2
CFAP410 0 2 0 0 0 2
CFD, ELANE 2 0 0 0 0 2
CFTR 2 0 0 0 0 2
CHAMP1 1 1 0 0 0 2
CHCHD10 1 1 0 0 0 2
CHD5 0 1 1 0 0 2
CNGA1, LOC101927157 2 0 0 0 0 2
COCH 1 1 0 0 0 2
COL11A1 0 1 1 0 0 2
COL12A1 0 2 0 0 0 2
COL18A1, SLC19A1 2 0 0 0 0 2
COL4A4 1 1 0 0 0 2
COL5A1 1 1 0 0 0 2
COL6A1 1 1 0 0 0 2
CPT2 2 0 0 0 0 2
CSNK2A1 1 1 0 0 0 2
CTC1 2 0 0 0 0 2
CTSF 2 0 0 0 0 2
CWF19L1 0 2 0 0 0 2
CYFIP2 0 1 1 0 0 2
CYGB, PRCD 2 0 0 0 0 2
CYP1B1 2 0 0 0 0 2
DARS2 2 0 0 0 0 2
DEAF1 1 1 0 0 0 2
DES 1 1 0 0 0 2
DHDDS 1 1 0 0 0 2
DMP1, DSPP 2 0 0 0 0 2
DNAH5 1 1 0 0 0 2
DNAH9 0 2 0 0 0 2
DNM1 0 2 0 0 0 2
DUOX2 1 1 0 0 0 2
DYNC1H1 1 0 1 0 0 2
DYSF 1 1 0 0 0 2
EEFSEC 0 2 0 0 0 2
EFTUD2 2 0 0 0 0 2
ENG 1 1 0 0 0 2
ERCC2 1 1 0 0 0 2
ERF 2 0 0 0 0 2
EVI2A, NF1 0 2 0 0 0 2
EXT2 2 0 0 0 0 2
FANCA 2 0 0 0 0 2
FAS 1 1 0 0 0 2
FFAR4, RBP4 0 2 0 0 0 2
FOXRED1 1 1 0 0 0 2
FRMD7 2 0 0 0 0 2
FZD4, PRSS23 1 1 0 0 0 2
G6PC1 2 0 0 0 0 2
GABRB2 0 2 0 0 0 2
GBE1 1 1 0 0 0 2
GCH1 2 0 0 0 0 2
GFPT1 0 2 0 0 0 2
GH-LCR, SCN4A 1 0 1 0 0 2
GLRA1 1 1 0 0 0 2
GNAI1 0 2 0 0 0 2
GPR179 1 1 0 0 0 2
GUCY2D 2 0 0 0 0 2
HAX1 1 1 0 0 0 2
HEXB 0 2 0 0 0 2
HFE 2 0 0 0 0 2
HNF4A 0 1 1 0 0 2
HNRNPU 1 1 0 0 0 2
HPS1 2 0 0 0 0 2
IGF1R 2 0 0 0 0 2
ITGA2B 0 2 0 0 0 2
JMJD8, RHBDL1, STUB1, WDR24 0 0 2 0 0 2
KANSL1 0 2 0 0 0 2
KCNT1 1 1 0 0 0 2
KCNV2 2 0 0 0 0 2
KPTN 2 0 0 0 0 2
KREMEN1 0 0 2 0 0 2
KRIT1 2 0 0 0 0 2
KYNU 0 1 1 0 0 2
L1CAM 0 0 2 0 0 2
LAMA1 2 0 0 0 0 2
LAMA2 1 0 1 0 0 2
LARP7, MIR302CHG 1 1 0 0 0 2
LDLR, MIR6886 1 1 0 0 0 2
LOC101927178, PPP2R3C 0 0 2 0 0 2
LOC106694316, MPO 0 2 0 0 0 2
LOC129993110, RAB33B 2 0 0 0 0 2
LOC130056973, SPG11 2 0 0 0 0 2
LOC130065345, PANK2 2 0 0 0 0 2
LOC130068202, RP2 2 0 0 0 0 2
MAGEL2 2 0 0 0 0 2
MAP2K1 2 0 0 0 0 2
MC2R 1 1 0 0 0 2
MC4R 1 1 0 0 0 2
MEFV 2 0 0 0 0 2
MEIS2 1 1 0 0 0 2
METTL23 0 2 0 0 0 2
MFN2 2 0 0 0 0 2
MID1 1 0 1 0 0 2
MIR6511B1, PKD1 0 2 0 0 0 2
MIR6857, SMC1A 1 1 0 0 0 2
MLC1 1 0 1 0 0 2
MPL 2 0 0 0 0 2
MRPS22 1 0 1 0 0 2
MSTO1 1 1 0 0 0 2
MT-ND5 2 0 0 0 0 2
MTHFR 1 1 0 0 0 2
MTM1 2 0 0 0 0 2
MVK 1 1 0 0 0 2
MYCN 1 1 0 0 0 2
MYH9 2 0 0 0 0 2
MYO18B 0 1 1 0 0 2
MYRF 0 0 2 0 0 2
NAA10 2 0 0 0 0 2
NEB 2 0 0 0 0 2
NEFL 1 1 0 0 0 2
NEK9 1 1 0 0 0 2
NGLY1 1 1 0 0 0 2
NIPBL 1 1 0 0 0 2
NOTCH1 1 0 1 0 0 2
NSMCE2 1 0 1 0 0 2
NYX 2 0 0 0 0 2
OCLN 1 1 0 0 0 2
OPHN1 1 1 0 0 0 2
OPTN 2 0 0 0 0 2
ORC1 0 1 1 0 0 2
OTOG 1 1 0 0 0 2
PAX2 2 0 0 0 0 2
PAX8 1 1 0 0 0 2
PCCB 1 1 0 0 0 2
PDCD10 2 0 0 0 0 2
PDE8B 2 0 0 0 0 2
PHKA2 1 1 0 0 0 2
PHOX2B 2 0 0 0 0 2
PI4KA 0 1 1 0 0 2
PLCE1 0 0 2 0 0 2
PLPBP 0 2 0 0 0 2
PMP22 0 2 0 0 0 2
POMT1 1 1 0 0 0 2
PPP1CB 1 1 0 0 0 2
PPT1 2 0 0 0 0 2
PREPL 0 2 0 0 0 2
PRKAR1B 0 1 1 0 0 2
PRR12 0 2 0 0 0 2
PTPRA, VPS16 2 0 0 0 0 2
PYROXD1 1 1 0 0 0 2
RAC1 0 2 0 0 0 2
RAF1 1 1 0 0 0 2
RNU12 1 1 0 0 0 2
RORA 0 2 0 0 0 2
RUNX2 2 0 0 0 0 2
RYR2 2 0 0 0 0 2
SCAF4, SOD1 1 1 0 0 0 2
SCN3A 1 1 0 0 0 2
SDHD 0 2 0 0 0 2
SEC24D 1 1 0 0 0 2
SERAC1 2 0 0 0 0 2
SET 1 1 0 0 0 2
SHANK2 1 1 0 0 0 2
SIX1 0 1 1 0 0 2
SLC12A3 2 0 0 0 0 2
SLC17A5 2 0 0 0 0 2
SLC19A2 2 0 0 0 0 2
SLC25A1 2 0 0 0 0 2
SLC26A2 2 0 0 0 0 2
SLC26A3 2 0 0 0 0 2
SLC2A1, SLC2A1-DT 2 0 0 0 0 2
SLC37A4 1 1 0 0 0 2
SLC6A8 2 0 0 0 0 2
SMAD3 0 2 0 0 0 2
SMARCA1 0 2 0 0 0 2
SMC1A 2 0 0 0 0 2
SNORD118, TMEM107 1 0 1 0 0 2
SNRNP200 2 0 0 0 0 2
SOD1 1 1 0 0 0 2
SORD 2 0 0 0 0 2
SPATA7 2 0 0 0 0 2
SPTBN1 1 0 1 0 0 2
STAG1 0 2 0 0 0 2
STRC 0 1 1 0 0 2
SUMF1 2 0 0 0 0 2
TBR1 1 1 0 0 0 2
TCOF1 2 0 0 0 0 2
TGFBR1 0 2 0 0 0 2
TMC1 0 2 0 0 0 2
TMEM67 2 0 0 0 0 2
TNFRSF13B 0 2 0 0 0 2
TNNI3 2 0 0 0 0 2
TPM1 1 1 0 0 0 2
TRAPPC10 0 2 0 0 0 2
TRAPPC11 1 1 0 0 0 2
TRPS1 2 0 0 0 0 2
TSPEAR 1 1 0 0 0 2
TTR 2 0 0 0 0 2
TUBA4A 0 2 0 0 0 2
USH1G 1 1 0 0 0 2
USP9X 1 1 0 0 0 2
WFS1 0 1 1 0 0 2
XPA 2 0 0 0 0 2
ZBTB18 0 2 0 0 0 2
ZBTB20 0 2 0 0 0 2
ZEB2 1 1 0 0 0 2
ZMIZ1 0 2 0 0 0 2
ZMYND11 1 1 0 0 0 2
ZNF148 1 1 0 0 0 2
ZSCAN10 2 0 0 0 0 2
A2ML1, A3GALT2, AADACL3, AADACL4, ACAP3, ACOT7, ACTL8, ACTRT2, ADGRB2, AGMAT, AGRN, AGTRAP, AHDC1, AJAP1, AK2, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, ANGPTL7, ANKRD65, ARHGEF10L, ARHGEF16, ARHGEF19, ARID1A, ASAP3, ATAD3A, ATAD3B, ATAD3C, ATP13A2, ATP5IF1, AUNIP, AURKAIP1, AZIN2, B3GALT6, BSDC1, C1QA, C1QB, C1QC, C1QTNF12, C1orf159, C1orf167, C1orf174, C1orf232, CA6, CACNA1C, CALML6, CAMK2N1, CAMTA1, CAMTA1-DT, CAMTA1-IT1, CAPZB, CASP9, CASZ1, CATSPER4, CCDC27, CCDC28B, CCNL2, CD164L2, CD52, CDA, CDC42, CDK11A, CDK11B, CELA2A, CELA2B, CELA3A, CELA3B, CENPS, CENPS-CORT, CEP104, CEP85, CFAP107, CFAP74, CHD5, CIROZ, CLCN6, CLCNKA, CLCNKB, CLIC4, CLSTN1, CNKSR1, CNR2, COL16A1, CORT, CPLANE2, CPTP, CROCC, CRYBG2, CSMD2, CTNNBIP1, CTRC, DCDC2B, DDI2, DDOST, DFFA, DFFB, DHDDS, DHRS3, DISP3, DNAJC11, DNAJC16, DNAJC8, DRAXIN, DVL1, E2F2, ECE1, EFHD2, EIF3I, EIF4G3, ELOA, EMC1, ENO1, EPB41, EPHA2, EPHA8, EPHB2, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXTL1, EYA3, FAAP20, FABP3, FAM110D, FAM131C, FAM167B, FAM229A, FAM231AP, FAM41C, FAM43B, FAM76A, FAM87B, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGR, FHAD1, FNDC10, FNDC5, FUCA1, GABRD, GALE, GMEB1, GNB1, GNB1-DT, GPATCH3, GPN2, GPR153, GPR157, GPR3, GRHL3, H6PD, HCRTR1, HDAC1, HES2, HES3, HES4, HES5, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HNRNPR, HP1BP3, HPCA, HSPB7, HSPG2, HTR1D, HTR6, ICMT, ICMT-DT, ID3, IFFO2, IFI6, IFNLR1, IGSF21, IL22RA1, INTS11, IQCC, ISG15, KAZN, KCNAB2, KDF1, KDM1A, KHDRBS1, KIAA2013, KIF17, KIF1B, KLHDC7A, KLHL17, KLHL21, KPNA6, LACTBL1, LAPTM5, LCK, LDLRAD2, LDLRAP1, LIN28A, LINC00115, LINC00339, LINC01128, LINC01134, LINC01141, LINC01226, LINC01342, LINC01345, LINC01346, LINC01355, LINC01409, LINC01635, LINC01646, LINC01647, LINC01648, LINC01654, LINC01672, LINC01714, LINC01756, LINC01757, LINC01770, LINC01772, LINC01777, LINC01778, LINC01783, LINC01784, LINC01786, LINC02566, LINC02574, LINC02593, LINC02596, LINC02606, LINC02766, LINC02780, LINC02782, LINC02783, LINC02800, LINC02810, LINC03126, LINC03154, LNCTAM34A, LOC100132287, LOC100288069, LOC100288175, LOC100506730, LOC100996583, LOC101928163, LOC101928626, LOC101928728, LOC105376689, LOC105376805, LOC105376859, LOC105376892, LOC105378586, LOC105378604, LOC105378626, LOC105378947, LOC105378948, LOC106501712, LOC106501713, LOC106783496, LOC106783575, LOC107985728, LOC107988049, LOC108175348, LOC108254669, LOC108254694, LOC108281140, LOC108281186, LOC108281189, LOC109851610, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110120729, LOC110120751, LOC110121088, LOC110121160, LOC110121213, LOC110121223, LOC110121258, LOC110121260, LOC110121289, LOC110594336, LOC110599576, LOC111501765, LOC111501793, LOC111562380, LOC111591499, LOC111721714, LOC111828503, LOC112268219, LOC112577469, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC112577524, LOC112577525, LOC112577550, LOC112577563, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577578, LOC112577579, LOC112577581, LOC112577582, LOC112577583, LOC112577584, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC113939986, LOC113939988, LOC114827827, LOC115801415, LOC115801416, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC117779438, LOC120766157, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC120893114, LOC120893115, LOC120893116, LOC120893117, LOC120893118, LOC120893119, LOC120893120, LOC120893121, LOC120893122, LOC120893123, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121677386, LOC121677387, LOC121725003, LOC121725004, LOC121725005, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121967041, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC122056776, LOC122056777, LOC122056778, LOC122056779, LOC122056780, LOC122056781, LOC122056782, LOC122056783, LOC122056784, LOC122056785, LOC122056786, LOC122056787, LOC122056788, LOC122056789, LOC122056790, LOC122056791, LOC122056792, LOC122056793, LOC122056794, LOC122056796, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LOC126805639, LOC126805640, LOC126805641, LOC126805642, LOC126805643, LOC126805644, LOC126805645, LOC126805646, LOC126805647, LOC126805648, LOC126805649, LOC126805650, LOC126805651, LOC126805652, LOC126805653, LOC126805654, LOC126805655, LOC126805656, LOC126805657, LOC126805658, LOC126805659, LOC126805660, LOC126805661, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC127239154, LOC128031832, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, LOC129388457, LOC129388458, LOC129388459, LOC129388460, LOC129388461, LOC129388462, LOC129388463, LOC129388464, LOC129388465, LOC129388466, LOC129388467, LOC129388468, LOC129388469, LOC129388470, LOC129388471, LOC129388472, LOC129388473, LOC129388474, LOC129388475, LOC129388476, LOC129388477, LOC129388478, LOC129388479, LOC129388480, LOC129388481, LOC129388482, LOC129388483, LOC129388484, LOC129388485, LOC129388486, LOC129388487, LOC129388488, LOC129388489, LOC129388490, LOC129388491, LOC129388492, LOC129929055, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, 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LOC129929610, LOC129929611, LOC129929612, LOC129929613, LOC129929614, LOC129929615, LOC129929616, LOC129929617, LOC129929618, LOC129929619, LOC129929620, LOC129929621, LOC129929622, LOC129929623, LOC129929624, LOC129929625, LOC129929626, LOC129929627, LOC129929628, LOC129929629, LOC129929630, LOC129929631, LOC129929632, LOC129929633, LOC129929634, LOC129929635, LOC129929636, LOC129929637, LOC129929638, LOC129929639, LOC129929640, LOC129929641, LOC129929642, LOC129929643, LOC129929644, LOC129929645, LOC129929646, LOC129929647, LOC129929648, LOC129929649, LOC129929650, LOC129929651, LOC129929652, LOC129929653, LOC129929654, LOC129929655, LOC129929656, LOC129929657, LOC129929658, LOC129929659, LOC129929660, LOC129929661, LOC129929662, LOC129929663, LOC129929664, LOC129929665, LOC129929666, LOC129929667, LOC129929668, LOC129929669, LOC129929670, LOC129929671, LOC129929672, LOC129929673, LOC129929674, LOC129929675, LOC129929676, LOC129929677, LOC129929678, LOC129929679, LOC129929680, LOC129929681, LOC129929682, LOC129929683, LOC129929684, LOC129929685, LOC129929686, LOC129929687, LOC129929688, LOC129929689, LOC129929690, LOC129929691, LOC129929692, LOC129929693, LOC129929694, LOC129929695, LOC129929696, LOC129929697, LOC129929698, LOC129929699, LOC129929700, LOC129929701, LOC129929702, LOC129929703, LOC129929704, LOC129929705, LOC129929706, LOC129929707, LOC129929708, LOC129929709, LOC129929710, LOC129929711, LOC129929712, LOC129929713, LOC129929714, LOC129929715, LOC129929716, LOC129929717, LOC129929718, LOC129929719, LOC129929720, LOC129929721, LOC129929722, LOC129929723, LOC129929724, LOC129929725, LOC129929726, LOC129929727, LOC129929728, LOC129929729, LOC129929730, LOC129929731, LOC129929732, LOC129929733, LOC129929734, LOC129929735, LOC129929736, LOC129929737, LOC129929738, LOC129929739, LOC129929740, LOC129929741, LOC129929742, LOC129929743, LOC129929744, LOC129929745, LOC129929746, LOC129929747, LOC129929748, LOC129929749, LOC129929750, LOC129929751, LOC129929752, LOC129929753, LOC129929754, LOC129929755, LOC129929756, LOC129929757, LOC129929758, LOC129929759, LOC129929760, LOC129929761, LOC129929762, LOC129929763, LOC129929764, LOC129929765, LOC129929766, LOC129929767, LOC129929768, LOC129929769, LOC129929770, LOC129929771, LOC129929772, LOC129929773, LOC129929774, LOC129929775, LOC129929776, LOC129929777, LOC129929778, LOC129929779, LOC129929780, LOC129929781, LOC129929782, LOC129929783, LOC129929784, LOC129929785, LOC129929786, LOC129929787, LOC129929788, LOC129929789, LOC129929790, LOC129929791, LOC129929792, LOC129929793, LOC129929794, LOC129929795, LOC129929796, LOC129929797, LOC129929798, LOC129929799, LOC129929800, LOC129929801, LOC129929802, LOC129929803, LOC129929804, LOC129929805, LOC129929806, LOC129929807, LOC129929808, LOC129929809, LOC129929810, LOC129929811, LOC129929812, LOC129929813, LOC129929814, LOC129929815, LOC129929816, LOC129929817, LOC129929818, LOC129929819, LOC129929820, LOC129929821, LOC129929822, LOC129929823, LOC129929824, LOC129929825, LOC129929826, LOC129929827, LOC129929828, LOC129929829, LOC129929830, LOC129929831, LOC129929832, LOC129929833, LOC129929834, LOC129929835, LOC129929836, LOC129929837, LOC129929838, LOC129929839, LOC129929840, LOC129929841, LOC129929842, LOC129929843, LOC129929844, LOC129929845, LOC129929846, LOC129929847, LOC129929848, LOC129929849, LOC129929850, LOC129929851, LOC129929852, LOC129929853, LOC129929854, LOC129929855, LOC129929856, LOC129929857, LOC129929858, LOC129929859, LOC129929860, LOC129929861, LOC129929862, LOC129929863, LOC129929864, LOC129929865, LOC129929866, LOC129929867, LOC129929868, LOC129929869, LOC129929870, LOC129929871, LOC129929872, LOC129929873, LOC129929874, LOC129929875, LOC129929876, LOC129929877, LOC129929878, LOC129929879, LOC129929880, LOC129929881, LOC129929882, LOC129929883, LOC129929884, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890, LOC129929891, LOC129929892, LOC129929893, LOC129929894, LOC129929895, LOC129929896, LOC129929897, LOC129929898, LOC129929899, LOC129929900, LOC129929901, LOC129929902, LOC129929903, LOC129929904, LOC129929905, LOC129929906, LOC129929907, LOC129929908, LOC129929909, LOC129929910, LOC129929911, LOC129929912, LOC129929913, LOC129929914, LOC129929915, LOC129929916, LOC129929917, LOC129929918, LOC129929919, LOC129929920, LOC129929921, LOC129929922, LOC129929923, LOC129929924, LOC129929925, LOC129929926, LOC129929927, LOC129929928, LOC129929929, LOC129929930, LOC129929931, LOC129929932, LOC129929933, LOC129929934, LOC129929935, LOC129929936, LOC129929937, LOC129929938, LOC129929939, LOC129929940, LOC129929941, LOC129929942, LOC129929943, LOC129929944, LOC129929945, LOC129929946, LOC129929947, LOC129929948, LOC129929949, LOC129929950, LOC129929951, LOC129929952, LOC129929953, LOC129929954, LOC129929955, LOC129929956, LOC129929957, LOC129929958, LOC129929959, LOC129929960, LOC129929961, LOC129929962, LOC129929963, LOC129929964, LOC129929965, LOC129929966, LOC129929967, LOC129929968, LOC129929969, LOC129929970, LOC129929971, LOC129929972, LOC129929973, LOC129929974, LOC129929975, LOC129929976, LOC129929977, LOC129929978, LOC129929979, LOC129929980, LOC129929981, LOC129929982, LOC129929983, LOC129929984, LOC129929985, LOC129929986, LOC129929987, LOC129929988, LOC129929989, LOC129929990, LOC129929991, LOC129929992, LOC129929993, LOC129929994, LOC129929995, LOC129929996, LOC129929997, LOC129929998, LOC129929999, LOC129930000, LOC129930001, LOC129930002, LOC129930003, LOC129930004, LOC129930005, LOC129930006, LOC129930007, LOC129930008, LOC129930009, LOC129930010, LOC129930011, LOC129930012, LOC129930013, LOC129930014, LOC129930015, LOC129930016, LOC129930017, LOC129930018, LOC129930019, LOC129930020, LOC129930021, LOC129930022, LOC129930023, LOC129930024, LOC129930025, LOC129930026, LOC129930027, LOC129930028, LOC129930029, LOC129930030, LOC129930031, LOC129930032, LOC129930033, LOC129930034, LOC129930035, LOC129930036, LOC129930037, LOC129930038, LOC129930039, LOC129930040, LOC129930041, LOC129930042, LOC129930043, LOC129930044, LOC129930045, LOC129930046, LOC129930047, LOC129930048, LOC129930049, LOC129930050, LOC129930051, LOC129930052, LOC129930053, LOC129930054, LOC129930055, LOC129930056, LOC129930057, LOC129930058, LOC129930059, LOC129930060, LOC129930061, LOC129930062, LOC129930063, LOC129930064, LOC129930065, LOC129930066, LOC129930067, LOC129930068, LOC129930069, LOC129930070, LOC129930071, LOC129930072, LOC129930073, LOC129930074, LOC129930075, LOC129930076, LOC129930077, LOC129930078, LOC129930079, LOC129930080, LOC129930081, LOC132088603, LOC132088604, LOC132088605, LOC132088606, LOC132088607, LOC132088608, LOC132088609, LOC132088610, LOC132088611, LOC132088612, LOC132088613, LOC132088614, LOC132088615, LOC132088624, LOC132088625, LOC132088626, LOC132088642, LOC132088643, LOC132088645, LOC132088665, LOC132088668, LOC132088669, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088691, LOC132088692, LOC132088693, LOC132088694, LOC132088695, LOC132088696, LOC132088697, LOC132088698, LOC132088699, LOC132088700, LOC132088701, LOC132088702, LOC132088703, LOC132088704, LOC132088706, LOC132088707, LOC132088708, LOC132088720, LOC132088746, LOC132090658, LOC132090659, LOC132090660, LOC132090661, LOC132205951, LOC132205952, LOC133206433, LOC133206434, LOC400748, LOC646471, LOC729737, LRRC38, LRRC47, LUZP1, LYPLA2, LZIC, MACO1, MAD2L2, MAN1C1, MAP3K6, MARCKSL1, MASP2, MATN1, MDS2, MECR, MED18, MEGF6, MFAP2, MFN2, MIB2, MICOS10, MICOS10-DT, MICOS10-NBL1, MIIP, MIR12136, MIR1256, MIR1290, MIR1976, MIR200A, MIR200B, MIR3115, MIR34A, MIR34AHG, MIR3605, MIR3675, MIR378F, MIR3917, MIR3972, MIR4251, MIR4252, MIR4253, MIR4254, MIR429, MIR4418, MIR4420, MIR4425, MIR4632, MIR4684, MIR4689, MIR4695, MIR551A, MIR5585, MIR5697, MIR6084, MIR6127, MIR6726, MIR6727, MIR6728, MIR6729, MIR6730, MIR6731, MIR6808, MIR6859-2, MIR7846, MMEL1, MMP23B, MORN1, MRPL20, MRPL20-DT, MRTO4, MTFR1L, MTHFR, MTOR, MUL1, MXRA8, MYOM3, NADK, NBL1, NBPF1, NBPF3, NCMAP, NCMAP-DT, NECAP2, NHSL3, NIPAL3, NKAIN1, NMNAT1, NOC2L, NOL9, NPHP4, NPPA, NPPB, NR0B2, NUDC, OPRD1, OR4F16, OR4F29, OTUD3, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PANK4, PAQR7, PARK7, PAX7, PDIK1L, PDPN, PEF1, PER3, PERM1, PEX10, PEX14, PGD, PHACTR4, PHC2, PHF13, PIGV, PIK3CD, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLCH2, PLEKHG5, PLEKHM2, PLEKHN1, PLOD1, PNRC2, PPP1R8, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM16, PRDM16-DT, PRDM2, PRKCZ, PRKCZ-DT, PRXL2B, PTAFR, PTP4A2, PTPRU, PUM1, PUSL1, RAB42, RAP1GAP, RBBP4, RBP7, RCAN3, RCAN3AS, RCC1, RCC2, RER1, RERE, RHCE, RHD, RNF186, RNF19B, RNF207, RNF223, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RNU11, RNU5E-1, RPA2, RPL11, RPL22, RPS6KA1, RSC1A1, RSRP1, RUNX3, S100PBP, SAMD11, SCARNA1, SCARNA21B, SCNN1D, SDC3, SDF4, SDHB, SELENON, SERINC2, SESN2, SFN, SH2D5, SH3BGRL3, SKI, SLC25A33, SLC25A34, SLC2A5, SLC2A7, SLC30A2, SLC35E2A, SLC35E2B, SLC45A1, SLC66A1, SLC9A1, SMIM1, SMPDL3B, SNHG12, SNHG3, SNORA16A, SNORA44, SNORA59A, SNORA61, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD128, SNORD167, SNORD99, SNRNP40, SPATA21, SPEN, SPOCD1, SPSB1, SRARP, SRM, SRRM1, SRSF10, SRSF4, SSU72, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, SZRD1, TAF12, TAF12-DT, TARDBP, TAS1R1, TAS1R2, TAS1R3, TCEA3, TENT5B, TEX46, THAP3, THEMIS2, TINAGL1, TMCO4, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM278, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM54, TMEM82, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TP73, TPRG1L, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRIM62, TRIM63, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRNAU1AP, TRNP1, TSSK3, TTC34, TTLL10, TXLNA, UBE2J2, UBE4B, UBIAD1, UBR4, UBXN10, UBXN11, UQCRHL, USP48, UTS2, VAMP3, VPS13D, VWA1, VWA5B1, WASF2, WDTC1, WDTC1-DT, WNT4, WRAP73, XKR8, YARS1, YTHDF2, ZBTB17, ZBTB40, ZBTB48, ZBTB8A, ZBTB8B, ZBTB8OS, ZCCHC17, ZDHHC18, ZNF362, ZNF436, ZNF593, ZNF593OS, ZNF683, ZPLD2P, ZSCAN20 1 0 0 0 0 1
AAAS 1 0 0 0 0 1
AAGAB 1 0 0 0 0 1
ABCA12 1 0 0 0 0 1
ABCA4, LOC126805794 1 0 0 0 0 1
ABCC8 1 0 0 0 0 1
ABCD1, BCAP31 0 1 0 0 0 1
ABCD4 0 1 0 0 0 1
ABCG5, DYNC2LI1 0 1 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029311, LOC107986742, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ABHD14A-ACY1, ACY1 1 0 0 0 0 1
ABHD16A 0 1 0 0 0 1
ABRAXAS1, CDS1, COPS4, COQ2, ENOPH1, GPAT3, HELQ, HNRNPD, HNRNPDL, HPSE, LIN54, MRPS18C, NKX6-1, PLAC8, SCD5, SEC31A, THAP9, TMEM150C 1 0 0 0 0 1
ACAD9 0 1 0 0 0 1
ACADM 1 0 0 0 0 1
ACADVL, DLG4 0 1 0 0 0 1
ACO2, POLR3H 0 1 0 0 0 1
ACOX1 1 0 0 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, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, LOC129931364, LOC129931365, LOC129931366, LOC129931367, MIR5087, MIR6077, NBPF11, NBPF12, NBPF14, PPIAL4G, PRKAB2, RNVU1-1, RNVU1-27, RNVU1-3, RNVU1-7, RNVU1-8, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRN-GTT2-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1 1 0 0 0 0 1
ACR, ADM2, ARSA, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, DENND6B, HDAC10, KLHDC7B, KLHDC7B-DT, LINC03232, LMF2, LOC105373100, LOC108281149, LOC121627956, LOC121853047, LOC121853048, LOC125446261, LOC125446262, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, 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, LOC130067885, LOC130067886, LOC130067887, LOC130067888, LOC130067889, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, MLC1, MOV10L1, NCAPH2, PANX2, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TRABD, TUBGCP6, TYMP 1 0 0 0 0 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ACVRL1 1 0 0 0 0 1
ADA, PKIG 0 1 0 0 0 1
ADA2 1 0 0 0 0 1
ADAMTS10 1 0 0 0 0 1
ADAMTSL2 0 1 0 0 0 1
ADAMTSL4, MIR4257 0 1 0 0 0 1
ADAT3, SCAMP4 1 0 0 0 0 1
ADGRG1 0 1 0 0 0 1
ADGRG1, ADGRG3, ADGRG5, CCDC102A, CCL17, CCL22, CFAP20, CFAP263, CIAPIN1, CNGB1, CNOT1, COQ9, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GOT2, KATNB1, KIFC3, LINC02137, LOC101927556, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC121587547, LOC121587548, LOC121847989, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC126862363, 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, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC388282, MIR6772, MMP15, NDRG4, POLR2C, PRSS54, SETD6, SLC38A7, SNORA46, SNORA50A, SPMIP8, USB1, ZNF319 0 1 0 0 0 1
ADGRL1 0 0 1 0 0 1
ADSL 0 1 0 0 0 1
AFF4 1 0 0 0 0 1
AHCY 0 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, ESS2, FAM230F, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC122455341, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIPL1 0 1 0 0 0 1
AKT2 0 0 1 0 0 1
ALDH18A1 1 0 0 0 0 1
ALDH1A3 1 0 0 0 0 1
ALDH3A2 1 0 0 0 0 1
ALG3, EEF1AKMT4, EEF1AKMT4-ECE2, MIR1224, VWA5B2 0 1 0 0 0 1
ALK 1 0 0 0 0 1
ALMS1, ALMS1-IT1 1 0 0 0 0 1
AMDHD2, ATP6V0C 0 1 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 1
ANG, EGILA, RNASE4 0 1 0 0 0 1
ANKH, ANKH-DT 0 1 0 0 0 1
ANO3 0 1 0 0 0 1
ANTXR2 1 0 0 0 0 1
AP3B2, CPEB1 1 0 0 0 0 1
APOA5, ZPR1 0 1 0 0 0 1
APTX 1 0 0 0 0 1
ARCN1 1 0 0 0 0 1
ARHGEF9 0 1 0 0 0 1
ARID1B, LOC115308161, LOC129997523 1 0 0 0 0 1
ARID2 1 0 0 0 0 1
ARMC9 0 1 0 0 0 1
ARMS2, HTRA1 1 0 0 0 0 1
ARSB 1 0 0 0 0 1
ARSG, PRKAR1A 0 1 0 0 0 1
ARSL 1 0 0 0 0 1
ARV1 0 1 0 0 0 1
ARX, LOC109610631 1 0 0 0 0 1
ASH1L 0 1 0 0 0 1
ASPH 1 0 0 0 0 1
ASS1 0 1 0 0 0 1
ASXL1 1 0 0 0 0 1
ASXL2 0 1 0 0 0 1
ATAD3A 0 1 0 0 0 1
ATN1 0 0 1 0 0 1
ATP2B1 0 1 0 0 0 1
ATP2B2 0 1 0 0 0 1
ATP6AP1, FAM50A, GDI1 0 1 0 0 0 1
ATP8A2 0 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 0 1
AUTS2, CT66 1 0 0 0 0 1
AVPR2 0 1 0 0 0 1
B4GALNT1 0 1 0 0 0 1
B4GALT3, PPOX, USP21 1 0 0 0 0 1
BAP1 1 0 0 0 0 1
BAP1, DNAH1 1 0 0 0 0 1
BBS1 1 0 0 0 0 1
BBS10, OSBPL8 1 0 0 0 0 1
BBS5 1 0 0 0 0 1
BCORL1 0 0 1 0 0 1
BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B 1 0 0 0 0 1
BICD2 0 1 0 0 0 1
BICRA 0 1 0 0 0 1
BMP4, MIR5580 0 1 0 0 0 1
BMPER 1 0 0 0 0 1
BORCS6, LOC105371520, LOC130060222, LOC130060223, LOC130060224, LOC130060225, MIR4521, SNORD118, TMEM107 0 1 0 0 0 1
BPHL, TUBB2A 0 1 0 0 0 1
BRRIAR, ITPR1 1 0 0 0 0 1
BRSK2 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 0 1
BTK, TIMM8A 0 1 0 0 0 1
BUB1B 0 1 0 0 0 1
C10orf105, CDH23 0 1 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
C19orf12 0 1 0 0 0 1
C1R, C1RL 0 1 0 0 0 1
CACNA1S 1 0 0 0 0 1
CAMK2B 0 1 0 0 0 1
CAPN3, ZNF106 0 0 1 0 0 1
CARD11 0 1 0 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CASR 0 0 1 0 0 1
CAV3, SSUH2 1 0 0 0 0 1
CC2D2A 0 1 0 0 0 1
CCDC40, GAA 1 0 0 0 0 1
CCDC82 1 0 0 0 0 1
CCDST, FLG 1 0 0 0 0 1
CCND2 0 1 0 0 0 1
CD19 1 0 0 0 0 1
CDAN1 1 0 0 0 0 1
CDC42 0 1 0 0 0 1
CDH11 0 1 0 0 0 1
CDK10 0 1 0 0 0 1
CDK5RAP2 0 1 0 0 0 1
CDK8, LOC130009416 0 1 0 0 0 1
CDKN1C 0 1 0 0 0 1
CDKN2A 1 0 0 0 0 1
CEP164 0 1 0 0 0 1
CEP250 0 1 0 0 0 1
CERKL, ITGA4 0 1 0 0 0 1
CERKL, LOC129935214 0 1 0 0 0 1
CERS1, GDF1, UPF1 0 1 0 0 0 1
CERT1 0 1 0 0 0 1
CFAP410, LOC130066823 1 0 0 0 0 1
CFTR, LOC111674472 1 0 0 0 0 1
CHAMP1, LINC01054 1 0 0 0 0 1
CHAT 0 1 0 0 0 1
CHD3, SCARNA21 0 1 0 0 0 1
CHD8, SNORD8, SNORD9 1 0 0 0 0 1
CHRND 0 1 0 0 0 1
CHRNG 1 0 0 0 0 1
CIC, PAFAH1B3 0 1 0 0 0 1
CLCN1, FAM131B 1 0 0 0 0 1
CLCN2 1 0 0 0 0 1
CLCN3 0 1 0 0 0 1
CLCN5 0 1 0 0 0 1
CLN6 1 0 0 0 0 1
CLP1 1 0 0 0 0 1
CLTC, LOC125177523 0 1 0 0 0 1
CLTC, PTRH2 1 0 0 0 0 1
CNTNAP1 0 1 0 0 0 1
CNTNAP2 1 0 0 0 0 1
COL11A2 1 0 0 0 0 1
COL18A1 0 1 0 0 0 1
COL18A1, MIR6815 0 1 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 1
COL5A1, LOC101448202 0 1 0 0 0 1
COL6A2 1 0 0 0 0 1
COMP 1 0 0 0 0 1
COPB1 0 0 1 0 0 1
COQ4, TRUB2 0 1 0 0 0 1
CP, HPS3 1 0 0 0 0 1
CPLANE1 0 1 0 0 0 1
CR2 1 0 0 0 0 1
CRBN 1 0 0 0 0 1
CREB3, GBA2 1 0 0 0 0 1
CRYGS 1 0 0 0 0 1
CSHL1, GH-LCR, GH1 0 0 1 0 0 1
CSPP1 1 0 0 0 0 1
CSTB 0 1 0 0 0 1
CTBP1 1 0 0 0 0 1
CTLA4 0 1 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 1
CTNS 1 0 0 0 0 1
CTSK 1 0 0 0 0 1
CUL4B 1 0 0 0 0 1
CUX2 1 0 0 0 0 1
CWC27 1 0 0 0 0 1
CXCR4 1 0 0 0 0 1
CXorf65, IL2RG 1 0 0 0 0 1
CYBB 1 0 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 0 1
CYP11B2, LOC106799834 1 0 0 0 0 1
CYP1B1, LOC128772254 0 1 0 0 0 1
CYP24A1 1 0 0 0 0 1
CYP7B1, LOC130000507 0 1 0 0 0 1
DACT1 0 1 0 0 0 1
DAGLA, MYRF 0 1 0 0 0 1
DCAF17 1 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DCX 1 0 0 0 0 1
DDB2 1 0 0 0 0 1
DDHD1 1 0 0 0 0 1
DDX11 1 0 0 0 0 1
DDX25, HYLS1, PUS3 1 0 0 0 0 1
DDX41 1 0 0 0 0 1
DENND5A 1 0 0 0 0 1
DEPDC5 0 1 0 0 0 1
DHTKD1 0 0 1 0 0 1
DHX9 0 1 0 0 0 1
DIABLO 0 0 1 0 0 1
DIS3L2, MIR562 1 0 0 0 0 1
DLD 1 0 0 0 0 1
DLG4 0 1 0 0 0 1
DLL1 0 1 0 0 0 1
DMD, LOC129391296 1 0 0 0 0 1
DNAJC19 1 0 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 1
DNM2 0 1 0 0 0 1
DNMT3B 0 1 0 0 0 1
DOCK7 1 0 0 0 0 1
DPYS 1 0 0 0 0 1
DSC2, DSG2 0 0 1 0 0 1
DSG2 0 1 0 0 0 1
DST 1 0 0 0 0 1
EGR2 1 0 0 0 0 1
EHMT1, LOC130003148 1 0 0 0 0 1
EIF3F 1 0 0 0 0 1
EIF5A 0 1 0 0 0 1
EIF5A, GPS2, NEURL4 0 0 1 0 0 1
ELN 1 0 0 0 0 1
ELOVL4 1 0 0 0 0 1
ELP1 0 1 0 0 0 1
ELP4, PAX6 1 0 0 0 0 1
EMD 1 0 0 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 1 0 0 0 1
EPS8L2 1 0 0 0 0 1
ERCC4, LOC130058543 0 0 1 0 0 1
ERLIN2 0 0 1 0 0 1
ESCO2 1 0 0 0 0 1
EXOSC3 1 0 0 0 0 1
EXT1 0 1 0 0 0 1
EYA1 1 0 0 0 0 1
EYA4 1 0 0 0 0 1
EZH2 0 1 0 0 0 1
F12, PFN3, SLC34A1 0 0 1 0 0 1
FAM111B 0 1 0 0 0 1
FAM171A2, GRN 1 0 0 0 0 1
FANCA, LOC112486223 1 0 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 1
FANCA, LOC130059837, LOC130059838 1 0 0 0 0 1
FANCB 0 0 1 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 1
FARS2 1 0 0 0 0 1
FBN1, LOC113939944 1 0 0 0 0 1
FBXW7 0 1 0 0 0 1
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 0 0 1
FDXR 0 1 0 0 0 1
FDXR, GRIN2C 0 1 0 0 0 1
FERRY3 1 0 0 0 0 1
FGD1 0 1 0 0 0 1
FGD1, TSR2 1 0 0 0 0 1
FGF12 1 0 0 0 0 1
FGF3, LOC109115964 0 1 0 0 0 1
FHL1 0 1 0 0 0 1
FITM2 0 1 0 0 0 1
FKBP14 1 0 0 0 0 1
FKRP 1 0 0 0 0 1
FLNA 1 0 0 0 0 1
FMR1 0 1 0 0 0 1
FOXC1 1 0 0 0 0 1
FOXF1 1 0 0 0 0 1
FOXG1, LINC01551 1 0 0 0 0 1
FOXI3 0 1 0 0 0 1
FOXP3 0 1 0 0 0 1
FRMPD4 0 0 1 0 0 1
FUCA1, LOC126805661 0 1 0 0 0 1
GABBR2 1 0 0 0 0 1
GABRA1 0 1 0 0 0 1
GALT 1 0 0 0 0 1
GAMT 1 0 0 0 0 1
GAMT, LOC130062945 1 0 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 1
GARS1 0 1 0 0 0 1
GATA2 1 0 0 0 0 1
GATA3 0 1 0 0 0 1
GATA4 0 1 0 0 0 1
GBA1, LOC106627981 1 0 0 0 0 1
GBA2 1 0 0 0 0 1
GBF1 0 0 1 0 0 1
GDAP1 1 0 0 0 0 1
GFAP, LOC130060994 0 1 0 0 0 1
GJA1 1 0 0 0 0 1
GJA3 0 1 0 0 0 1
GJC2 1 0 0 0 0 1
GK 0 1 0 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GLDC 1 0 0 0 0 1
GLI1 0 1 0 0 0 1
GLMN 0 1 0 0 0 1
GMPPB 1 0 0 0 0 1
GNAI3, GNAT2, MIR197 0 1 0 0 0 1
GNAT2 1 0 0 0 0 1
GP9 1 0 0 0 0 1
GPC3 1 0 0 0 0 1
GPHN, RDH11 0 1 0 0 0 1
GPHN, RDH12, ZFYVE26 1 0 0 0 0 1
GPR143 1 0 0 0 0 1
GRIA1 0 1 0 0 0 1
GRIA3 0 1 0 0 0 1
GRID2 0 0 1 0 0 1
GRM7 0 0 1 0 0 1
GRN, LOC125177489 1 0 0 0 0 1
GSDME 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 0 0 0 0 1
H1-4 1 0 0 0 0 1
H3-3A 0 1 0 0 0 1
H3-3B 0 1 0 0 0 1
HBA-LCR, NPRL3 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HCN2 1 0 0 0 0 1
HDAC8 1 0 0 0 0 1
HGD 0 1 0 0 0 1
HIBCH 0 1 0 0 0 1
HINT1 1 0 0 0 0 1
HMGB1 0 1 0 0 0 1
HNF1B 0 1 0 0 0 1
HNMT 0 1 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HOXD13 1 0 0 0 0 1
HPS1, MIR4685 1 0 0 0 0 1
HPS4 1 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 1
HSD3B7, STX1B 0 0 1 0 0 1
HSPD1 0 1 0 0 0 1
HTRA1 0 1 0 0 0 1
HUWE1 0 1 0 0 0 1
HYAL2 0 0 1 0 0 1
HYLS1, PUS3 1 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 1
IGF2, INS-IGF2 0 1 0 0 0 1
IKZF1 0 1 0 0 0 1
IL17RC 0 1 0 0 0 1
IMPDH1 1 0 0 0 0 1
IMPDH2, QRICH1 1 0 0 0 0 1
IMPG1 1 0 0 0 0 1
INF2 0 1 0 0 0 1
INPP5E 0 1 0 0 0 1
IRAK1BP1, PHIP 1 0 0 0 0 1
IRF2BPL, LOC107984638 1 0 0 0 0 1
ITGA3 0 1 0 0 0 1
ITGB4 1 0 0 0 0 1
ITPR1 1 0 0 0 0 1
JAG1 1 0 0 0 0 1
JAG1, MIR6870 1 0 0 0 0 1
JAGN1 1 0 0 0 0 1
JARID2 0 1 0 0 0 1
JMJD8, STUB1 1 0 0 0 0 1
KCNA1 1 0 0 0 0 1
KCNB1 1 0 0 0 0 1
KCNC1 0 1 0 0 0 1
KCNC2 1 0 0 0 0 1
KCNC3 1 0 0 0 0 1
KCNE1 1 0 0 0 0 1
KCNK9 1 0 0 0 0 1
KCNMA1 0 1 0 0 0 1
KCNQ3 1 0 0 0 0 1
KCNQ5 0 1 0 0 0 1
KDM3B 1 0 0 0 0 1
KDM4B 0 1 0 0 0 1
KDM6B 1 0 0 0 0 1
KIDINS220 1 0 0 0 0 1
KIF1A, LOC126806583 0 1 0 0 0 1
KIF1C, LOC126862472 0 1 0 0 0 1
KIF21A 1 0 0 0 0 1
KIF26A 0 1 0 0 0 1
KIT 1 0 0 0 0 1
KLF7 1 0 0 0 0 1
KLHL40 1 0 0 0 0 1
KLLN, PTEN 0 1 0 0 0 1
KMT2C 1 0 0 0 0 1
KPNA3 0 0 1 0 0 1
KRAS 1 0 0 0 0 1
KRT10 1 0 0 0 0 1
KRT16 1 0 0 0 0 1
KRT5 1 0 0 0 0 1
KRT6A 0 1 0 0 0 1
L2HGDH 1 0 0 0 0 1
LARGE2, PHF21A 1 0 0 0 0 1
LGI1 1 0 0 0 0 1
LINC02245, SLC1A4 0 1 0 0 0 1
LIPT2 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMBR1, SHH, ZRS 1 0 0 0 0 1
LMBRD2 0 1 0 0 0 1
LMX1B 1 0 0 0 0 1
LOC107372315, OSGEP 1 0 0 0 0 1
LOC107652445, SHOX 1 0 0 0 0 1
LOC108021846, SOX9 0 1 0 0 0 1
LOC108281170, LOC108281180, NF1 1 0 0 0 0 1
LOC108863620, STAR 1 0 0 0 0 1
LOC110011216, PHOX2B 0 1 0 0 0 1
LOC111365204, PRDM13 1 0 0 0 0 1
LOC112529895, SCO1 0 1 0 0 0 1
LOC113875037, LOC125446266, LOC126863197, LOC126863198, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PNPLA4, PUDP, STS, VCX 1 0 0 0 0 1
LOC126806253, STAMBP 0 1 0 0 0 1
LOC126806426, TTN 0 1 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 1
LOC126806529, PAX3 1 0 0 0 0 1
LOC126859697, MLIP 1 0 0 0 0 1
LOC126859807, TNFAIP3 1 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 1
LOC126860392, RP1 0 1 0 0 0 1
LOC126860395, PLAG1 0 1 0 0 0 1
LOC126860971, POLR3A 1 0 0 0 0 1
LOC126860975, ZMIZ1 0 1 0 0 0 1
LOC126861896, MYH6 0 1 0 0 0 1
LOC126861897, MHRT, MIR208B, MYH7 0 1 0 0 0 1
LOC126861897, MHRT, MYH7 1 0 0 0 0 1
LOC126862500, MYH2, MYHAS 0 1 0 0 0 1
LOC126862611, TLK2 1 0 0 0 0 1
LOC126862757, TCF4 1 0 0 0 0 1
LOC129935182, TTN 1 0 0 0 0 1
LOC129992876, SLC39A8 0 0 1 0 0 1
LOC129994569, MIR3936HG, SLC22A5 1 0 0 0 0 1
LOC130003092, TMEM203, TPRN 1 0 0 0 0 1
LOC130009585, UFM1 1 0 0 0 0 1
LOC130056226, SPATA7 0 1 0 0 0 1
LOC130059847, TUBB3 0 0 1 0 0 1
LOC130067016, LZTR1 0 1 0 0 0 1
LOXHD1 0 1 0 0 0 1
LPO, MPO 0 1 0 0 0 1
LRAT 0 1 0 0 0 1
LRRK2 1 0 0 0 0 1
LRSAM1 0 1 0 0 0 1
MAF 1 0 0 0 0 1
MAOA 0 0 1 0 0 1
MAP1B 0 1 0 0 0 1
MAP2K2 0 1 0 0 0 1
MAP4K2, MEN1 1 0 0 0 0 1
MAPK8IP3 0 1 0 0 0 1
MARVELD2 1 0 0 0 0 1
MASP1 1 0 0 0 0 1
MASP2, TARDBP 1 0 0 0 0 1
MAST3 1 0 0 0 0 1
MAZ, MVP-DT, PAGR1, PRRT2 0 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 1
MED12 1 0 0 0 0 1
MED13 1 0 0 0 0 1
MEF2C 0 0 1 0 0 1
MEGF10 0 1 0 0 0 1
MEN1 0 1 0 0 0 1
METTL5 1 0 0 0 0 1
MFSD8 1 0 0 0 0 1
MHRT, MYH7 0 1 0 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 1
MIR5004, SYNGAP1 0 1 0 0 0 1
MIR6084, PINK1 1 0 0 0 0 1
MIR6788, PIEZO2 0 1 0 0 0 1
MIR6795, NOTCH3 1 0 0 0 0 1
MIR6797, RPS19 0 1 0 0 0 1
MKKS 1 0 0 0 0 1
MPDZ 0 1 0 0 0 1
MPO 0 1 0 0 0 1
MPV17 0 1 0 0 0 1
MPV17, TRIM54, UCN 1 0 0 0 0 1
MPV17, UCN 1 0 0 0 0 1
MPZ, SDHC 0 0 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 0 0 0 0 1
MT-CO1, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TF, MT-TI, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TV, MT-TW, MT-TY 0 1 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 1
MT-ND1 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 1
MT-TS1 1 0 0 0 0 1
MT-TW 1 0 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
MYH11, NDE1 0 1 0 0 0 1
MYH3 1 0 0 0 0 1
MYL2 1 0 0 0 0 1
MYO15A 1 0 0 0 0 1
MYO19, PIGW 1 0 0 0 0 1
MYORG 1 0 0 0 0 1
MYOT, PKD2L2-DT 1 0 0 0 0 1
NACC1 1 0 0 0 0 1
NAGA 1 0 0 0 0 1
NARS1 0 1 0 0 0 1
NCAPH2, SCO2 1 0 0 0 0 1
NDP 1 0 0 0 0 1
NDRG1 1 0 0 0 0 1
NDUFAF6 0 0 1 0 0 1
NEK1 1 0 0 0 0 1
NEK8 0 0 1 0 0 1
NEU1 0 1 0 0 0 1
NFIA 0 1 0 0 0 1
NFIB 0 1 0 0 0 1
NFIX 0 1 0 0 0 1
NFKB1 0 1 0 0 0 1
NFKB2, PSD 1 0 0 0 0 1
NHLRC1 1 0 0 0 0 1
NIPA1 1 0 0 0 0 1
NLRP12 0 0 1 0 0 1
NOG 1 0 0 0 0 1
NPHS1 1 0 0 0 0 1
NPR2, SPAG8 0 1 0 0 0 1
NPTX1 0 1 0 0 0 1
NR5A1 1 0 0 0 0 1
NRAS 0 1 0 0 0 1
NSD2 1 0 0 0 0 1
NTRK2 1 0 0 0 0 1
NUDT2 0 1 0 0 0 1
OAT 1 0 0 0 0 1
OFD1 1 0 0 0 0 1
OFD1, TRAPPC2 1 0 0 0 0 1
OPA3 1 0 0 0 0 1
OSBPL2 1 0 0 0 0 1
OTOP2, USH1G 0 1 0 0 0 1
OTX2 1 0 0 0 0 1
P2RX2 1 0 0 0 0 1
P2RX2, POLE 1 0 0 0 0 1
PACS2 1 0 0 0 0 1
PADI3 1 0 0 0 0 1
PAK1 0 1 0 0 0 1
PARK7 0 1 0 0 0 1
PCDH12, RNF14 1 0 0 0 0 1
PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 0 1 0 0 0 1
PDE4D 0 1 0 0 0 1
PDE6C 1 0 0 0 0 1
PDHX 1 0 0 0 0 1
PDX1 0 0 1 0 0 1
PDYN 1 0 0 0 0 1
PEX12 1 0 0 0 0 1
PEX13 1 0 0 0 0 1
PEX6 0 1 0 0 0 1
PHEX, PTCHD1 1 0 0 0 0 1
PHF8 1 0 0 0 0 1
PHKA1 1 0 0 0 0 1
PHKB 1 0 0 0 0 1
PHYH 0 1 0 0 0 1
PIDD1 0 0 1 0 0 1
PIEZO1 1 0 0 0 0 1
PIGA 0 1 0 0 0 1
PIGP 1 0 0 0 0 1
PIGV 1 0 0 0 0 1
PIK3CD 1 0 0 0 0 1
PIK3R2 1 0 0 0 0 1
PINK1 0 1 0 0 0 1
PJVK 1 0 0 0 0 1
PKD1, TSC2 1 0 0 0 0 1
PKHD1 0 1 0 0 0 1
PKLR 0 1 0 0 0 1
PLD1 1 0 0 0 0 1
PLG 1 0 0 0 0 1
PLP1, RAB9B 1 0 0 0 0 1
POC1B, POC1B-DUSP6 1 0 0 0 0 1
POLR2F, SOX10 0 1 0 0 0 1
POU4F3, RBM27-POU4F3 1 0 0 0 0 1
PPM1D 1 0 0 0 0 1
PPOX 0 1 0 0 0 1
PPP2R5C 0 0 1 0 0 1
PQBP1 1 0 0 0 0 1
PRDM15 0 1 0 0 0 1
PRDX3 0 1 0 0 0 1
PREPL, SLC3A1 1 0 0 0 0 1
PRKN 1 0 0 0 0 1
PRMT7 0 1 0 0 0 1
PRNP 1 0 0 0 0 1
PRPF31, TFPT 0 1 0 0 0 1
PRPF4 0 1 0 0 0 1
PRPF8, RILP 0 1 0 0 0 1
PRPH2, UBR2 1 0 0 0 0 1
PRPS1 0 1 0 0 0 1
PRUNE1 1 0 0 0 0 1
PSEN2 1 0 0 0 0 1
PTCHD1 1 0 0 0 0 1
PTS 1 0 0 0 0 1
PUM1 1 0 0 0 0 1
PUS7 1 0 0 0 0 1
PYCR1 0 1 0 0 0 1
PYGM 1 0 0 0 0 1
QRICH1 1 0 0 0 0 1
RAB28 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 1
RAG1 1 0 0 0 0 1
RANBP2 0 1 0 0 0 1
RBM20 1 0 0 0 0 1
REEP6 1 0 0 0 0 1
RELA 0 1 0 0 0 1
RELA, SIPA1 0 1 0 0 0 1
RETREG1 0 0 1 0 0 1
RETREG3, TUBG1 0 1 0 0 0 1
RLBP1 1 0 0 0 0 1
RNASEH1 0 0 1 0 0 1
RNASEH2B 1 0 0 0 0 1
RNF170 0 1 0 0 0 1
RNU2-2, WDR74 0 1 0 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 0 1
RNU4-2, SIRT4 0 1 0 0 0 1
RPL11 0 0 1 0 0 1
RPL13, SPG7 0 1 0 0 0 1
RPS24 0 1 0 0 0 1
RSPO4 1 0 0 0 0 1
SAMD9 0 1 0 0 0 1
SCAMP5 0 1 0 0 0 1
SCN11A 0 1 0 0 0 1
SCN4A 0 0 1 0 0 1
SCO1 1 0 0 0 0 1
SCUBE3 1 0 0 0 0 1
SEMA6B 0 1 0 0 0 1
SERPINC1 1 0 0 0 0 1
SETD1B 0 1 0 0 0 1
SETD2 0 0 1 0 0 1
SF3B4 1 0 0 0 0 1
SGCA 1 0 0 0 0 1
SGCB 1 0 0 0 0 1
SGSH 1 0 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SHOC2 1 0 0 0 0 1
SHOX 1 0 0 0 0 1
SIX3 0 1 0 0 0 1
SLC12A1 1 0 0 0 0 1
SLC13A3 0 1 0 0 0 1
SLC16A2 0 1 0 0 0 1
SLC22A5 1 0 0 0 0 1
SLC24A1 1 0 0 0 0 1
SLC24A5 0 1 0 0 0 1
SLC25A15 0 1 0 0 0 1
SLC25A4 1 0 0 0 0 1
SLC25A46 1 0 0 0 0 1
SLC26A4 0 1 0 0 0 1
SLC2A10 1 0 0 0 0 1
SLC34A3 0 1 0 0 0 1
SLC35A1 0 1 0 0 0 1
SLC35A2 1 0 0 0 0 1
SLC4A1 0 1 0 0 0 1
SLC4A11 1 0 0 0 0 1
SLC9A6 0 1 0 0 0 1
SMAD2 0 1 0 0 0 1
SMAD4 0 1 0 0 0 1
SMARCB1 0 1 0 0 0 1
SMC3 0 0 1 0 0 1
SMG9 0 1 0 0 0 1
SMPD1 1 0 0 0 0 1
SMPX 1 0 0 0 0 1
SNAP29 0 1 0 0 0 1
SNORA58B, UBAP2L 0 1 0 0 0 1
SNRPB 1 0 0 0 0 1
SOX18 0 1 0 0 0 1
SOX2, SOX2-OT 1 0 0 0 0 1
SOX4 0 1 0 0 0 1
SPG21 1 0 0 0 0 1
SPINK5 1 0 0 0 0 1
SPTBN4 1 0 0 0 0 1
SPTLC2 1 0 0 0 0 1
SRCAP 0 1 0 0 0 1
SRP54 1 0 0 0 0 1
SSBP1 1 0 0 0 0 1
STAR 1 0 0 0 0 1
STAT1 1 0 0 0 0 1
STK11 0 0 0 1 0 1
STK16, TUBA4A, TUBA4B 0 1 0 0 0 1
STUB1 1 0 0 0 0 1
STXBP2 1 0 0 0 0 1
SUCLG1 0 1 0 0 0 1
SUOX 1 0 0 0 0 1
SUZ12 0 1 0 0 0 1
SYN1 0 1 0 0 0 1
SYNCRIP 0 1 0 0 0 1
SYP 0 1 0 0 0 1
TAB2 0 1 0 0 0 1
TACO1 0 1 0 0 0 1
TBC1D20 1 0 0 0 0 1
TBC1D23 0 1 0 0 0 1
TBCEL-TECTA, TECTA 0 1 0 0 0 1
TBL1XR1 0 1 0 0 0 1
TBX19 0 1 0 0 0 1
TBX22 0 1 0 0 0 1
TBX3 0 1 0 0 0 1
TBX5 1 0 0 0 0 1
TEAD3, TULP1 1 0 0 0 0 1
TERT 0 1 0 0 0 1
TFAP2A 1 0 0 0 0 1
TFG 1 0 0 0 0 1
TGFBI 1 0 0 0 0 1
TGFBR2 0 1 0 0 0 1
TH 0 0 1 0 0 1
THOC6 1 0 0 0 0 1
THRA 0 1 0 0 0 1
TIMM8A 1 0 0 0 0 1
TJP2 0 1 0 0 0 1
TK2 1 0 0 0 0 1
TMEM161B 0 1 0 0 0 1
TMEM240 0 1 0 0 0 1
TMEM260 1 0 0 0 0 1
TMEM63A 0 0 1 0 0 1
TMEM63B 0 1 0 0 0 1
TMEM70 1 0 0 0 0 1
TMTC3 0 1 0 0 0 1
TNFAIP3 1 0 0 0 0 1
TNNI2 1 0 0 0 0 1
TNPO3 0 1 0 0 0 1
TOPORS 0 1 0 0 0 1
TOR1A 1 0 0 0 0 1
TP63 0 0 1 0 0 1
TRAPPC9 0 1 0 0 0 1
TRIM8 1 0 0 0 0 1
TRPM3 0 1 0 0 0 1
TSHR 0 1 0 0 0 1
TSPAN12 0 1 0 0 0 1
TTC19 1 0 0 0 0 1
TTC21B 0 1 0 0 0 1
TTC8 1 0 0 0 0 1
TTLL5 1 0 0 0 0 1
TUBB 1 0 0 0 0 1
TUBGCP6 0 1 0 0 0 1
TWNK 1 0 0 0 0 1
UBAP1 1 0 0 0 0 1
UBAP1L 0 1 0 0 0 1
UBAP2L 0 1 0 0 0 1
UBR7 0 1 0 0 0 1
UPF3B 1 0 0 0 0 1
UQCRB 0 1 0 0 0 1
UROD 1 0 0 0 0 1
VAC14 1 0 0 0 0 1
VCAN 1 0 0 0 0 1
VCL 1 0 0 0 0 1
VCP 0 1 0 0 0 1
VMA12 0 1 0 0 0 1
VPS16 1 0 0 0 0 1
WASF1 0 1 0 0 0 1
WASHC5 0 1 0 0 0 1
WDR19 0 0 1 0 0 1
WDR37 0 1 0 0 0 1
WDR62 0 1 0 0 0 1
WDR73 0 1 0 0 0 1
WDR81 1 0 0 0 0 1
WHRN 1 0 0 0 0 1
WNT10A 1 0 0 0 0 1
WWOX 1 0 0 0 0 1
XK 1 0 0 0 0 1
XRCC4 1 0 0 0 0 1
ZBTB7A 0 0 1 0 0 1
ZDHHC9 1 0 0 0 0 1
ZNF142 1 0 0 0 0 1
ZNF462 1 0 0 0 0 1
ZNFX1 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 858
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1611 717 0 0 0 2328
Neurofibromatosis, type 1 59 16 1 0 0 76
Familial cancer of breast 16 14 2 0 1 33
Retinitis pigmentosa 16 8 0 0 0 24
Retinitis pigmentosa 3 14 2 0 0 0 16
CHARGE syndrome 12 1 0 0 0 13
Autosomal dominant optic atrophy classic form 7 5 0 0 0 12
Tuberous sclerosis syndrome 8 3 0 0 0 11
Usher syndrome type 1 7 4 0 0 0 11
Usher syndrome type 2A 9 0 2 0 0 11
Severe early-childhood-onset retinal dystrophy 7 3 0 0 0 10
Hereditary breast ovarian cancer syndrome 6 1 0 1 0 8
Hereditary spastic paraplegia 4 4 3 1 0 0 8
Retinitis pigmentosa 1 7 1 0 0 0 8
Retinitis pigmentosa 39 3 5 0 0 0 8
Androgen resistance syndrome 4 3 0 0 0 7
Cone-rod dystrophy 3 5 1 1 0 0 7
Hereditary spastic paraplegia 7 4 3 0 0 0 7
Polycystic kidney disease, adult type 3 4 0 0 0 7
Stickler syndrome type 1 5 2 0 0 0 7
Developmental and epileptic encephalopathy, 42 1 4 1 0 0 6
Juvenile retinoschisis 2 3 1 0 0 6
Kabuki syndrome 1 3 2 1 0 0 6
Marfan syndrome 4 2 0 0 0 6
Noonan syndrome 1 5 1 0 0 0 6
X-linked Alport syndrome 2 4 0 0 0 6
Achromatopsia 2 4 1 0 0 0 5
Adrenoleukodystrophy 1 4 0 0 0 5
Autosomal dominant non-syndromic intellectual disability 1 4 0 0 0 5
Autosomal recessive nonsyndromic hearing loss 1A 5 0 0 0 0 5
CTCF-related neurodevelopmental disorder 0 2 3 0 0 5
Episodic ataxia type 2 2 3 0 0 0 5
Hereditary nonpolyposis colon cancer 4 1 0 0 0 5
Hypercholesterolemia, familial, 1 4 1 0 0 0 5
Idiopathic basal ganglia calcification 1 3 2 0 0 0 5
Lissencephaly due to TUBA1A mutation 1 3 1 0 0 5
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 4 0 0 0 5
Ovarian cancer 4 0 1 0 0 5
Phelan-McDermid syndrome 5 0 0 0 0 5
Polycystic kidney disease 2 4 1 0 0 0 5
Radio-Tartaglia syndrome 2 3 0 0 0 5
Retinitis pigmentosa 14 5 0 0 0 0 5
Retinitis pigmentosa 25 5 0 0 0 0 5
Retinitis pigmentosa 4 3 2 0 0 0 5
Retinitis pigmentosa 40 1 3 1 0 0 5
Rett syndrome 5 0 0 0 0 5
Severe intellectual disability-progressive spastic diplegia syndrome 4 1 0 0 0 5
Severe myoclonic epilepsy in infancy 1 4 0 0 0 5
Spastic paraplegia 79A, autosomal dominant, with ataxia 2 1 2 0 0 5
Achromatopsia 3 1 0 0 0 4
Autosomal recessive bestrophinopathy 2 2 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 8 2 1 1 0 0 4
Charcot-Marie-Tooth disease X-linked dominant 1 2 2 0 0 0 4
Cobblestone lissencephaly without muscular or ocular involvement 1 3 0 0 0 4
Cohen syndrome 2 2 0 0 0 4
DeSanto-Shinawi syndrome due to WAC point mutation 3 1 0 0 0 4
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 2 2 0 0 4
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 3 1 0 0 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2 1 1 0 0 4
Hereditary leiomyomatosis and renal cell cancer 3 1 0 0 0 4
Hypertrophic cardiomyopathy 1 1 1 2 0 0 4
Leber congenital amaurosis with early-onset deafness 1 0 3 0 0 4
Long QT syndrome 2 3 1 0 0 0 4
Metachromatic leukodystrophy 3 1 0 0 0 4
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 1 3 0 0 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 3 0 1 0 0 4
Myeloperoxidase deficiency 0 4 0 0 0 4
Myoclonic dystonia 11 2 1 1 0 0 4
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 2 1 1 0 0 4
Neutropenia, severe congenital, 1, autosomal dominant 4 0 0 0 0 4
Retinitis pigmentosa 37 3 1 0 0 0 4
Retinoblastoma 4 0 0 0 0 4
Snijders Blok-Campeau syndrome 1 2 1 0 0 4
Stargardt disease 1 2 1 0 0 4
Vitelliform macular dystrophy 2 2 2 0 0 0 4
Wiedemann-Steiner syndrome 4 0 0 0 0 4
Wilson disease 3 1 0 0 0 4
X-linked hydrocephalus syndrome 0 0 4 0 0 4
Acoustic neuroma 0 3 0 0 0 3
Adult hypophosphatasia 2 1 0 0 0 3
Alzheimer disease 3 3 0 0 0 0 3
Amyotrophic lateral sclerosis type 1 2 1 0 0 0 3
Amyotrophic lateral sclerosis type 10 1 0 2 0 0 3
Asphyxiating thoracic dystrophy 3 1 2 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 1 1 1 0 0 3
Autosomal recessive ataxia, Beauce type 3 0 0 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 3 0 0 0 0 3
Charlevoix-Saguenay spastic ataxia 1 0 2 0 0 3
Choroideremia 2 1 0 0 0 3
Coffin-Siris syndrome 1 3 0 0 0 0 3
Complex cortical dysplasia with other brain malformations 5 0 3 0 0 0 3
Congenital myotonia, autosomal dominant form 3 0 0 0 0 3
Duchenne muscular dystrophy 3 0 0 0 0 3
Ectopia lentis 2, isolated, autosomal recessive 1 2 0 0 0 3
Familial amyloid nephropathy with urticaria AND deafness 2 1 0 0 0 3
Fanconi anemia complementation group A 3 0 0 0 0 3
Frontotemporal dementia 3 0 0 0 0 3
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 3 0 0 0 0 3
Glycogen storage disease, type II 3 0 0 0 0 3
Hypercholesterolemia, autosomal dominant, type B; Muscle AMP deaminase deficiency 0 0 3 0 0 3
Hypertrophic cardiomyopathy 4 2 1 0 0 0 3
Hypogonadotropic hypogonadism 7 with or without anosmia 2 0 1 0 0 3
Intellectual disability, X-linked 21 0 3 0 0 0 3
Intellectual disability, autosomal dominant 39 2 0 1 0 0 3
Iodotyrosyl coupling defect 2 0 1 0 0 3
KBG syndrome 2 0 1 0 0 3
Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 3 0 0 0 3
Kury-Isidor syndrome 0 3 0 0 0 3
Leber congenital amaurosis 13 2 1 0 0 0 3
Leukoencephalopathy with calcifications and cysts 1 1 1 0 0 3
Macrocephaly-autism syndrome 2 1 0 0 0 3
Mucopolysaccharidosis, MPS-III-A 3 0 0 0 0 3
Non-syndromic X-linked intellectual disability 0 3 0 0 0 3
Osteogenesis imperfecta type I 1 2 0 0 0 3
Papillary carcinoma of the corpus uteri 3 0 0 0 0 3
Pervasive developmental disorder 1 2 0 0 0 3
Pitt-Hopkins syndrome 3 0 0 0 0 3
Renal hypodysplasia/aplasia 3 3 0 0 0 0 3
Retinitis pigmentosa 11 2 1 0 0 0 3
Retinitis pigmentosa 20 1 2 0 0 0 3
Retinitis pigmentosa 26 1 2 0 0 0 3
Roifman syndrome 1 2 0 0 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 2 0 0 0 3
Usher syndrome 2 1 0 0 0 3
Adult polyglucosan body disease 1 1 0 0 0 2
Alagille syndrome due to a JAG1 point mutation 2 0 0 0 0 2
Angelman syndrome 1 0 1 0 0 2
Ataxia-telangiectasia syndrome 1 1 0 0 0 2
Auditory neuropathy-optic atrophy syndrome 0 2 0 0 0 2
Autoimmune lymphoproliferative syndrome type 1 1 1 0 0 0 2
Autoinflammatory syndrome, familial, Behcet-like 1 2 0 0 0 0 2
Autosomal dominant cerebellar ataxia 1 1 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 9 1 1 0 0 0 2
Autosomal recessive cerebellar ataxia 1 1 0 0 0 2
Autosomal recessive inherited pseudoxanthoma elasticum 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 16 0 1 1 0 0 2
Bardet-Biedl syndrome 1 1 0 0 0 2
Bardet-Biedl syndrome 9 2 0 0 0 0 2
Bethlem myopathy 1A 1 1 0 0 0 2
Bietti crystalline corneoretinal dystrophy 1 1 0 0 0 2
Birt-Hogg-Dube syndrome 2 0 0 0 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 2 0 0 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 0 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 0 2 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 1 0 0 2
Capillary malformation-arteriovenous malformation 1 1 1 0 0 0 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 1 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2T 1 1 0 0 0 2
Charcot-Marie-Tooth disease, axonal, type 2EE 1 1 0 0 0 2
Childhood onset GLUT1 deficiency syndrome 2 1 1 0 0 0 2
Coffin-Siris syndrome 8 0 1 1 0 0 2
Cognitive impairment with or without cerebellar ataxia 1 0 1 0 0 2
Complex cortical dysplasia with other brain malformations 1 2 0 0 0 0 2
Cone-rod dystrophy 2 0 0 0 0 2
Cone-rod dystrophy 12 2 0 0 0 0 2
Congenital multicore myopathy with external ophthalmoplegia 0 2 0 0 0 2
Congenital myopathy 2c, severe infantile, autosomal dominant 1 1 0 0 0 2
Congenital stationary night blindness 2A 2 0 0 0 0 2
Cornelia de Lange syndrome 6 0 1 1 0 0 2
Craniosynostosis-anal anomalies-porokeratosis syndrome 1 1 0 0 0 2
Developmental and epileptic encephalopathy 92 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 2 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 4 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 7 1 1 0 0 0 2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 1 0 0 0 2
Early-onset autosomal dominant Alzheimer disease 2 0 0 0 0 2
Early-onset myopathy with fatal cardiomyopathy 1 0 1 0 0 2
Ectodermal dysplasia 13, hair/tooth type 0 0 2 0 0 2
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1 1 0 0 0 2
Eichsfeld type congenital muscular dystrophy 2 0 0 0 0 2
Encephalopathy due to GLUT1 deficiency 1 1 0 0 0 2
Endometrial carcinoma 2 0 0 0 0 2
Epilepsy, early-onset, vitamin B6-dependent 0 2 0 0 0 2
Exudative vitreoretinopathy 4 1 1 0 0 0 2
Faundes-Banka syndrome 0 1 1 0 0 2
Feingold syndrome type 1 1 1 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 0 1 1 0 0 2
Genitopatellar syndrome; Epilepsy, familial temporal lobe, 1 2 0 0 0 0 2
Global developmental delay with speech and behavioral abnormalities 1 1 0 0 0 2
Glycogen storage disease IXa1 1 1 0 0 0 2
Gorlin syndrome 1 1 0 0 0 2
Growth delay due to insulin-like growth factor I resistance 2 0 0 0 0 2
Hematuria, benign familial, 1 1 1 0 0 0 2
Hereditary spastic paraplegia 0 1 1 0 0 2
Hereditary spastic paraplegia 10 0 1 1 0 0 2
Hereditary spastic paraplegia 39 0 1 1 0 0 2
Hereditary spastic paraplegia 3A 0 1 1 0 0 2
Hereditary spastic paraplegia 48 0 0 2 0 0 2
Hereditary spastic paraplegia 50 0 0 2 0 0 2
Hereditary spastic paraplegia 5A 2 0 0 0 0 2
Hermansky-Pudlak syndrome 1 2 0 0 0 0 2
Hypertrophic cardiomyopathy 26 0 2 0 0 0 2
Hypomyelinating leukodystrophy 6 1 1 0 0 0 2
Immunodeficiency, common variable, 2 0 2 0 0 0 2
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 2 0 0 0 2
Intellectual disability, X-linked 102 1 1 0 0 0 2
Intellectual disability, X-linked, syndromic, Houge type 1 1 0 0 0 2
Intellectual disability, autosomal dominant 14 1 1 0 0 0 2
Intellectual disability, autosomal dominant 43 2 0 0 0 0 2
Intellectual disability, autosomal dominant 45 1 1 0 0 0 2
Intellectual disability, autosomal dominant 55, with seizures 2 0 0 0 0 2
Intellectual disability, autosomal dominant 56 0 1 1 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 0 0 0 2
Joubert syndrome 5 0 0 2 0 0 2
Kabuki syndrome 2 2 0 0 0 0 2
Kleefstra syndrome 1 1 0 0 0 2
Kleefstra syndrome 1 2 0 0 0 0 2
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 1 0 0 2
Lamb-Shaffer syndrome 0 2 0 0 0 2
Li-Fraumeni syndrome 0 2 0 0 0 2
Long QT syndrome 1 1 1 0 0 0 2
Macrocephaly-developmental delay syndrome 0 1 1 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 1 0 0 2
Megalencephaly-capillary malformation-polymicrogyria syndrome 2 0 0 0 0 2
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2 0 0 0 0 2
Meier-Gorlin syndrome 1 0 1 1 0 0 2
Microcephaly-digital anomalies-intellectual disability syndrome 2 0 0 0 0 2
Migraine, familial hemiplegic, 1 1 0 1 0 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 1 1 0 0 0 2
Mucocutaneous ulceration, chronic 0 2 0 0 0 2
Mucopolysaccharidosis, MPS-III-B 0 2 0 0 0 2
Multifocal pattern dystrophy simulating fundus flavimaculatus 2 0 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 0 1 0 0 2
Multiple endocrine neoplasia, type 1 1 1 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2 0 0 0 0 2
Myasthenic syndrome, congenital, 22 1 1 0 0 0 2
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 1 1 0 0 0 2
Nephrotic syndrome, type 3 0 0 2 0 0 2
Neurodevelopmental disorder with hearing loss and spasticity 0 1 1 0 0 2
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 1 0 0 0 2
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 0 2 0 0 0 2
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 1 0 1 0 0 2
Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0 2 0 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 2 0 0 0 2
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2 0 0 0 0 2
Neutropenia, severe congenital, 9, autosomal dominant 0 1 1 0 0 2
Niemann-Pick disease, type C1 1 1 0 0 0 2
O'Donnell-Luria-Rodan syndrome 2 0 0 0 0 2
Oculocutaneous albinism type 1A 1 1 0 0 0 2
Okur-Chung neurodevelopmental syndrome 1 1 0 0 0 2
Parenti-mignot neurodevelopmental syndrome 0 1 1 0 0 2
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 1 1 0 0 2
Progressive retinal dystrophy due to retinol transport defect 0 2 0 0 0 2
Rare epilepsy 0 2 0 0 0 2
Retinitis pigmentosa 56 1 1 0 0 0 2
Retinitis pigmentosa 7 1 1 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 0 0 2
Schwannomatosis 0 1 1 0 0 2
Scimitar syndrome 0 0 2 0 0 2
Seckel syndrome 10 1 0 1 0 0 2
Sensorineural hearing loss disorder; Global developmental delay; ZSCAN10 Deficiency 2 0 0 0 0 2
Severe early-childhood-onset retinal dystrophy; Stargardt disease 1 1 0 0 0 2
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 1 1 0 0 0 2
Smith-Magenis syndrome 2 0 0 0 0 2
Spastic paraplegia 30A, autosomal dominant 0 2 0 0 0 2
Spinocerebellar ataxia type 14 1 0 1 0 0 2
Spinocerebellar ataxia type 19/22 0 2 0 0 0 2
Spinocerebellar ataxia type 6 2 0 0 0 0 2
Spongy degeneration of central nervous system 1 1 0 0 0 2
Syndromic X-linked intellectual disability Raymond type 1 1 0 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 1 1 0 0 0 2
Thanatophoric dysplasia type 1 2 0 0 0 0 2
Tuberous sclerosis 2 2 0 0 0 0 2
Undetermined early-onset epileptic encephalopathy 1 1 0 0 0 2
Upshaw-Schulman syndrome 1 1 0 0 0 2
Usher syndrome type 1; Usher syndrome type 1D 0 2 0 0 0 2
Usher syndrome type 1D 1 1 0 0 0 2
Usher syndrome type 2C 1 1 0 0 0 2
Vertebral, cardiac, renal, and limb defects syndrome 2 0 1 1 0 0 2
Vitelliform macular dystrophy 3 1 1 0 0 0 2
Wieacker-Wolff syndrome 1 1 0 0 0 2
Wieacker-Wolff syndrome, female-restricted 0 2 0 0 0 2
X-linked Opitz G/BBB syndrome 1 0 1 0 0 2
X-linked agammaglobulinemia 0 2 0 0 0 2
X-linked cone-rod dystrophy 1 2 0 0 0 0 2
X-linked intellectual disability, Cantagrel type 2 0 0 0 0 2
3-methylglutaconic aciduria type 5 1 0 0 0 0 1
46,XY sex reversal 3 1 0 0 0 0 1
7q11.23 microduplication syndrome 1 0 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 0 0 1
ALG3-congenital disorder of glycosylation 0 1 0 0 0 1
APC-related attenuated familial adenomatous polyposis 1 0 0 0 0 1
Achondrogenesis, type IB 1 0 0 0 0 1
Achromatopsia 4 0 1 0 0 0 1
Adams-Oliver syndrome 1 0 0 0 0 1
Adams-Oliver syndrome 5 0 0 1 0 0 1
Aicardi Goutieres syndrome 0 1 0 0 0 1
Aicardi-Goutieres syndrome 6 1 0 0 0 0 1
Alexander disease 0 1 0 0 0 1
Alkaptonuria 0 1 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 1 0 0 0 1
Alstrom syndrome 1 0 0 0 0 1
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2 1 0 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 0 1
Alzheimer disease 4 1 0 0 0 0 1
Amyotrophic lateral sclerosis 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 12 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 9 0 1 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 0 1
Aneurysm-osteoarthritis syndrome 0 1 0 0 0 1
Angioedema, hereditary, 4 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 0 0 1
Arterial tortuosity syndrome 1 0 0 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 0 0 1
Astrocytic tumor 1 0 0 0 0 1
Ateleiotic dwarfism 0 0 1 0 0 1
Atrioventricular septal defect 4 0 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 1 0 0 0 1
Autosomal dominant Alport syndrome 0 1 0 0 0 1
Autosomal dominant epidermolytic ichthyosis 1 0 0 0 0 1
Autosomal dominant non-syndromic intellectual disability; Intellectual disability, autosomal dominant 56 1 0 0 0 0 1
Autosomal dominant non-syndromic intellectual disability; Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 10 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 23 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 36 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 41 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss; Autosomal dominant nonsyndromic hearing loss 64 0 0 1 0 0 1
Autosomal dominant severe congenital neutropenia 0 1 0 0 0 1
Autosomal recessive DOPA responsive dystonia 0 0 1 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 0 1
Autosomal recessive complex spastic paraplegia 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 4B 1 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 1 0 0 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 0 0 0 0 1
Autosomal recessive non-syndromic intellectual disability 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 7 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84A 1 0 0 0 0 1
Autosomal recessive primary microcephaly 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 16 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 18 0 0 1 0 0 1
Baralle-Macken syndrome 0 0 1 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 0 1
Bardet-Biedl syndrome 5 1 0 0 0 0 1
Bartter disease type 1 1 0 0 0 0 1
Becker muscular dystrophy 0 1 0 0 0 1
Behavioral variant of frontotemporal dementia 0 0 1 0 0 1
Benign familial infantile epilepsy 0 1 0 0 0 1
Benign hereditary chorea 0 1 0 0 0 1
Bent bone dysplasia 0 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 0 0 1
Blepharophimosis-impaired intellectual development syndrome 1 0 0 0 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 0 1 0 0 1
Branchiooculofacial syndrome 1 0 0 0 0 1
Branchiootorenal syndrome 1 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 0 0 1
Brugada syndrome 0 1 0 0 0 1
Brugada syndrome 1 1 0 0 0 0 1
Brunner syndrome 0 0 1 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 1 0 0 0 1
CBL-related disorder 0 1 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 0 1
Cardiac valvular defect, developmental 1 0 0 0 0 1
Carnitine palmitoyl transferase II deficiency, neonatal form 1 0 0 0 0 1
Cataract 14 multiple types 0 1 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 1 0 0 0 0 1
Cerebral cavernous malformation 1 0 0 0 0 1
Cerebral cavernous malformation 1 1 0 0 0 0 1
Cerebro-costo-mandibular syndrome 1 0 0 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 1 0 0 0 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 0 1
Charcot-Marie-Tooth disease 0 1 0 0 0 1
Charcot-Marie-Tooth disease X-linked recessive 5 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1B 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4D 1 0 0 0 0 1
Childhood apraxia of speech 0 1 0 0 0 1
Childhood-onset epilepsy syndrome 0 1 0 0 0 1
Choroidal dystrophy, central areolar 2 1 0 0 0 0 1
Christianson syndrome 0 1 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 0 0 1
Chromosome 4q21 deletion syndrome 1 0 0 0 0 1
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness 1 0 0 0 0 1
Clark-Baraitser syndrome 1 0 0 0 0 1
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 0 0 1 0 0 1
Cleidocranial dysostosis 1 0 0 0 0 1
Coffin-Siris syndrome 0 1 0 0 0 1
Coffin-Siris syndrome 6 1 0 0 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 1 0 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 1 0 0 0 1
Cone dystrophy 3 1 0 0 0 0 1
Cone dystrophy 4 1 0 0 0 0 1
Cone-rod dystrophy 15 0 1 0 0 0 1
Cone-rod dystrophy 18 1 0 0 0 0 1
Cone-rod dystrophy 19 1 0 0 0 0 1
Cone-rod dystrophy and hearing loss 1 1 0 0 0 0 1
Congenital amegakaryocytic thrombocytopenia 1 1 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 0 1
Congenital heart defects, multiple types, 2; Polyvalvular heart disease syndrome 0 1 0 0 0 1
Congenital isolated adrenocorticotropic hormone deficiency 0 1 0 0 0 1
Congenital long QT syndrome 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 1
Congenital myasthenic syndrome 4A 1 0 0 0 0 1
Congenital myopathy 10b, mild variant 0 1 0 0 0 1
Congenital nongoitrous hypothyroidism 6 0 1 0 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 1 0 0 0 1
Cranioectodermal dysplasia 4 0 0 1 0 0 1
Craniofacial microsomia 2 0 1 0 0 0 1
Crouzon syndrome 1 0 0 0 0 1
Cystic fibrosis 1 0 0 0 0 1
Danon disease 1 0 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 1
Deficiency of adenosine deaminase 2 1 0 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 1 0 0 0 0 1
Dent disease type 2 1 0 0 0 0 1
Dentinogenesis imperfecta type 2 1 0 0 0 0 1
Desmin-related myofibrillar myopathy 0 1 0 0 0 1
Developmental and epileptic encephalopathy 1 0 0 0 0 1
Developmental and epileptic encephalopathy 103 1 0 0 0 0 1
Developmental and epileptic encephalopathy 119 0 1 0 0 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 13 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 17 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 36 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 62 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 64 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 65 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 67 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 9 0 0 1 0 0 1
Developmental delay and seizures with or without movement abnormalities 1 0 0 0 0 1
Developmental delay with or without epilepsy 0 1 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 1 0 0 0 1
Developmental delay with variable neurologic and brain abnormalities 0 1 0 0 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 0 0 1
Developmental malformations-deafness-dystonia syndrome 1 0 0 0 0 1
Diamond-Blackfan anemia 1 0 1 0 0 0 1
Diamond-Blackfan anemia 3 0 1 0 0 0 1
Diamond-Blackfan anemia 6 1 0 0 0 0 1
Diamond-Blackfan anemia 7 0 0 1 0 0 1
Diencephalic-mesencephalic junction dysplasia 1 0 0 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 0 1
Dilated cardiomyopathy 1NN 0 1 0 0 0 1
Distal arthrogryposis type 2B1 1 0 0 0 0 1
Distal myopathy with anterior tibial onset 1 0 0 0 0 1
Distal myopathy, Tateyama type 1 0 0 0 0 1
Dominant hereditary optic atrophy 1 0 0 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 1 0 0 0 0 1
Dystonia 12 1 0 0 0 0 1
Dystonic disorder; Global developmental delay; Seizure; Visual impairment; Hearing impairment; Microcephaly; Spastic tetraparesis 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, classic type, 1 0 1 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 0 1
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 1 0 0 0 0 1
Epilepsy with myoclonic atonic seizures 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 17 1 0 0 0 0 1
Episodic ataxia type 1 1 0 0 0 0 1
Exudative vitreoretinopathy 5 0 1 0 0 0 1
FOXG1 disorder 1 0 0 0 0 1
Fabry disease 1 0 0 0 0 1
Familial Mediterranean fever 1 0 0 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 0 1
Familial cold autoinflammatory syndrome 1 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 0 1
Familial hyperthyroidism due to mutations in TSH receptor 0 1 0 0 0 1
Familial hypocalciuric hypercalcemia 1 0 0 1 0 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 0 1
Familial isolated dilated cardiomyopathy 0 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 1 0 0 0 1
Familial melanoma 1 0 0 0 0 1
Familial multiple meningioma 0 1 0 0 0 1
Familial multiple polyposis syndrome 1 0 0 0 0 1
Fanconi anemia complementation group D2 1 0 0 0 0 1
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 1 0 0 0 0 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 1 0 0 0 0 1
Fliedner-Zweier syndrome 0 1 0 0 0 1
Floating-Harbor syndrome 0 1 0 0 0 1
Focal segmental glomerulosclerosis 7 1 0 0 0 0 1
Foveal hypoplasia 1; Irido-corneo-trabecular dysgenesis 1 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 1 0 0 0 1
Fumarase deficiency 0 0 1 0 0 1
GNE myopathy 1 0 0 0 0 1
Gabriele de Vries syndrome 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 0 1 0 0 1
Genitopatellar syndrome 0 1 0 0 0 1
Glioma susceptibility 1 0 0 1 0 0 1
Global developmental delay 1 0 0 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 1 0 0 0 0 1
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 0 1 0 0 1
Glycine encephalopathy 1 1 0 0 0 0 1
Glycogen storage disease IXb 1 0 0 0 0 1
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 0 1 0 0 0 1
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0 0 1 0 0 1
Granulomatous disease, chronic, X-linked 1 0 0 0 0 1
Greig cephalopolysyndactyly syndrome 0 1 0 0 0 1
Hearing loss, autosomal dominant 80 0 0 1 0 0 1
Hearing loss, autosomal dominant 82 0 1 0 0 0 1
Hearing loss, autosomal recessive 106 1 0 0 0 0 1
Hereditary angioedema type 3 0 0 1 0 0 1
Hereditary ataxia 0 1 0 0 0 1
Hereditary ataxia; Chorea 1 0 0 0 0 1
Hereditary cavernous hemangioma of brain 1 0 0 0 0 1
Hereditary pheochromocytoma and paraganglioma 1 0 0 0 0 1
Hereditary sensory and autonomic neuropathy type 7 0 1 0 0 0 1
Hereditary spastic paraplegia 26 0 1 0 0 0 1
Hereditary spastic paraplegia 30 0 1 0 0 0 1
Hereditary spastic paraplegia 46 1 0 0 0 0 1
Hereditary spastic paraplegia 56 1 0 0 0 0 1
Hereditary spastic paraplegia 57 1 0 0 0 0 1
Hereditary spastic paraplegia 77 1 0 0 0 0 1
Hereditary spherocytosis type 1 1 0 0 0 0 1
Hermansky-Pudlak syndrome with pulmonary fibrosis 1 0 0 0 0 1
Heterotaxy, visceral, 7, autosomal 0 0 1 0 0 1
Histiocytic medullary reticulosis 1 0 0 0 0 1
Houge-Janssens syndrome 1 0 0 1 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 0 1
Hydrolethalus syndrome 1 1 0 0 0 0 1
Hypercalcemia, infantile, 1 1 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 1 0 0 0 0 1
Hyperkalemic periodic paralysis 0 0 1 0 0 1
Hypertriglyceridemia 1 0 1 0 0 0 1
Hypertrophic cardiomyopathy 10 1 0 0 0 0 1
Hypertrophic cardiomyopathy 11 0 0 1 0 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 1 0 0 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 0 1 0 0 1
Hypomyelinating leukodystrophy 2 1 0 0 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 2 0 1 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 1 0 0 0 1
Imagawa-Matsumoto syndrome 0 1 0 0 0 1
Imerslund-Grasbeck syndrome type 2 1 0 0 0 0 1
Immunodeficiency 11b with atopic dermatitis 0 1 0 0 0 1
Immunodeficiency 91 and hyperinflammation 1 0 0 0 0 1
Immunodeficiency, common variable, 10 1 0 0 0 0 1
Immunodeficiency, common variable, 12 0 1 0 0 0 1
Inborn glycerol kinase deficiency 0 1 0 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 1 0 0 0 1
Infantile convulsions and choreoathetosis 0 1 0 0 0 1
Inherited acute myeloid leukemia 1 0 0 0 0 1
Intellectual developmental disorder 61 1 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 0 1
Intellectual developmental disorder with autism and speech delay 1 0 0 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 0 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 0 0 1
Intellectual developmental disorder with or without peripheral neuropathy 0 1 0 0 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 66 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 67 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 70 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 0 1 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 0 1
Intellectual disability, X-linked 93 1 0 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 0 0 1
Intellectual disability, autosomal dominant 1 0 1 0 0 0 1
Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 0 0 1
Intellectual disability, autosomal dominant 24 0 1 0 0 0 1
Intellectual disability, autosomal dominant 29 1 0 0 0 0 1
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 0 1 0 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 0 0 1
Intellectual disability, autosomal dominant 41 0 1 0 0 0 1
Intellectual disability, autosomal dominant 47 0 1 0 0 0 1
Intellectual disability, autosomal dominant 48 0 1 0 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 0 1
Intellectual disability, autosomal dominant 52 0 1 0 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 1 0 0 0 1
Intellectual disability, autosomal recessive 51 0 1 0 0 0 1
Intellectual disability, autosomal recessive 53; Pervasive developmental disorder 1 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
Intellectual disability-strabismus syndrome 1 0 0 0 0 1
Isolated asymptomatic elevation of creatine phosphokinase 0 1 0 0 0 1
Isolated macular dystrophy 0 1 0 0 0 1
Isolated microphthalmia 8 1 0 0 0 0 1
Joubert syndrome 1 0 1 0 0 0 1
Joubert syndrome 17 0 1 0 0 0 1
Joubert syndrome 30 0 1 0 0 0 1
Joubert syndrome 9 0 1 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 1 0 0 0 0 1
Knobloch syndrome 1 0 0 0 0 1
Knobloch syndrome 1 0 1 0 0 0 1
Kostmann syndrome 0 1 0 0 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
LEOPARD syndrome 3 1 0 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 0 1
Leber congenital amaurosis 1 0 0 0 0 1
Leber congenital amaurosis 10 1 0 0 0 0 1
Leber congenital amaurosis 14 0 1 0 0 0 1
Leber congenital amaurosis 15; Leber congenital amaurosis 1 0 0 0 0 1
Leber congenital amaurosis 3 1 0 0 0 0 1
Leigh syndrome 1 0 0 0 0 1
Leigh syndrome, mitochondrial 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 1 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 0 0 0 1
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 1 0 0 0 0 1
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0 1 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 0 0 0 1
Li-Campeau syndrome 0 1 0 0 0 1
Liang-Wang syndrome 0 1 0 0 0 1
Lipid proteinosis 1 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 0 1
Loeys-Dietz syndrome 0 1 0 0 0 1
Loeys-Dietz syndrome 2 0 1 0 0 0 1
Loeys-Dietz syndrome 6 0 1 0 0 0 1
Lowe syndrome 0 1 0 0 0 1
Lung cancer 0 0 1 0 0 1
Lynch syndrome 4 0 0 1 0 0 1
MELAS syndrome 1 0 0 0 0 1
MIRAGE syndrome 0 1 0 0 0 1
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 0 1 0 0 1
Macular dystrophy with central cone involvement 1 0 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 1 0 0 1
Mast syndrome 1 0 0 0 0 1
Maternally-inherited spastic paraplegia 1 0 0 0 0 1
Maturity-onset diabetes of the young type 1 0 0 1 0 0 1
Maturity-onset diabetes of the young type 4 0 0 1 0 0 1
Mayer-Rokitansky-Küster-Hauser syndrome type 2 1 0 0 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 1
Medulloblastoma 0 1 0 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 0 1
Meningioma 0 0 1 0 0 1
Menke-Hennekam syndrome 1 0 1 0 0 0 1
Merosin deficient congenital muscular dystrophy 0 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblJ 0 1 0 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 0 1
Microphthalmia with brain and digit anomalies 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 9 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 17 0 0 1 0 0 1
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 0 1 0 0 1
Miyoshi muscular dystrophy 3 1 0 0 0 0 1
Mosaic neurofibromatosis type 1 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 0 1 0 0 1
Muenke syndrome 1 0 0 0 0 1
Multiple benign circumferential skin creases on limbs 1 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 0 1
Multiple congenital exostosis 0 1 0 0 0 1
Muscular dystrophy, adult-onset, with leukoencephalopathy 0 0 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 1 0 0 0 1
Myoclonic epilepsy of Lafora 1 0 1 0 0 0 1
Myofibrillar myopathy 5 1 0 0 0 0 1
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 1 0 0 0 0 1
Nail-patella syndrome 1 0 0 0 0 1
Nephroblastoma 1 0 0 0 0 1
Nephrogenic diabetes insipidus 0 1 0 0 0 1
Nephronophthisis 15 0 1 0 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 1 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; Global developmental delay with speech and behavioral abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 0 1 0 0 1
Neurodevelopmental disorder with involuntary movements 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 0 0 1
Neurodevelopmental disorder with poor growth and skeletal anomalies 0 1 0 0 0 1
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 1 0 0 0 0 1
Neurofibroma 1 0 0 0 0 1
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 0 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 11 1 0 0 0 0 1
Neuroocular syndrome 0 1 0 0 0 1
Neurooculocardiogenitourinary syndrome 0 1 0 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 0 1
Nonsyndromic congenital nail disorder 4 1 0 0 0 0 1
Noonan syndrome 1 0 0 0 0 1
Noonan syndrome 10 1 0 0 0 0 1
Noonan syndrome 4 1 0 0 0 0 1
Noonan syndrome 6 0 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 0 1 0 0 0 1
Oculocutaneous albinism 0 1 0 0 0 1
Oculocutaneous albinism type 6 0 1 0 0 0 1
Oculopharyngeal muscular dystrophy 1 1 0 0 0 0 1
Odonto-onycho-dermal dysplasia 1 0 0 0 0 1
Optic atrophy 3 1 0 0 0 0 1
Optic atrophy 9 0 1 0 0 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 1 0 0 0 0 1
Ornithine aminotransferase deficiency 1 0 0 0 0 1
Osteodysplastic primordial dwarfism, type 1 1 0 0 0 0 1
Osteogenesis imperfecta 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 0 0 1
POLR-related leukodystrophy 1 0 0 0 0 1
PTEN hamartoma tumor syndrome 0 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 0 1
Papillary tumor of the pineal region 1 0 0 0 0 1
Paramyotonia congenita of Von Eulenburg 1 0 0 0 0 1
Partial androgen insensitivity syndrome 1 0 0 0 0 1
Patterned dystrophy of the retinal pigment epithelium 1 0 0 0 0 1
Patterned macular dystrophy 1 1 0 0 0 0 1
Pelizaeus-Merzbacher disease 1 0 0 0 0 1
Periventricular nodular heterotopia 9 0 1 0 0 0 1
Perlman syndrome 1 0 0 0 0 1
Pervasive developmental disorder; Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1 0 0 0 0 1
Piebaldism 1 0 0 0 0 1
Pigmentary pallidal degeneration 1 0 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 1
Polycystic kidney disease 8 0 0 1 0 0 1
Polycystic kidney disease, adult type; Autosomal dominant polycystic kidney disease 1 0 0 0 0 1
Polydactyly of a triphalangeal thumb 1 0 0 0 0 1
Polydactyly, postaxial, type A1 1 0 0 0 0 1
Polydactyly, postaxial, type A8 0 1 0 0 0 1
Polymicrogyria 0 1 0 0 0 1
Postaxial polydactyly type B; Postaxial polydactyly type A 0 1 0 0 0 1
Potassium-aggravated myotonia 0 0 1 0 0 1
Primary dilated cardiomyopathy 1 0 0 0 0 1
Primary erythromelalgia 0 0 1 0 0 1
Primary peritoneal carcinoma 0 0 1 0 0 1
Primrose syndrome 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 1 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 0 1 0 0 1
Proximal symphalangism 1A 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 1
Rare genetic epilepsy; Rare genetic intellectual disability 1 0 0 0 0 1
Rauch-Steindl syndrome 1 0 0 0 0 1
Renal cell carcinoma 1 0 0 0 0 1
Renal cysts and diabetes syndrome 0 1 0 0 0 1
Retinal dystrophy with or without macular staphyloma 0 1 0 0 0 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 1 0 0 0 0 1
Retinitis pigmentosa 12 1 0 0 0 0 1
Retinitis pigmentosa 2 1 0 0 0 0 1
Retinitis pigmentosa 33 1 0 0 0 0 1
Retinitis pigmentosa 42 0 1 0 0 0 1
Retinitis pigmentosa 45 1 0 0 0 0 1
Retinitis pigmentosa 49 1 0 0 0 0 1
Retinitis pigmentosa 62 1 0 0 0 0 1
Retinitis pigmentosa 88 1 0 0 0 0 1
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 0 1 0 0 0 1
Right atrial isomerism 0 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Rubinstein-Taybi syndrome 0 1 0 0 0 1
Russell-Silver syndrome 0 1 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 0 1
SLC35A1-congenital disorder of glycosylation 0 1 0 0 0 1
SLC35A2-congenital disorder of glycosylation 1 0 0 0 0 1
SLC39A8-CDG 0 0 1 0 0 1
Sandhoff disease 0 1 0 0 0 1
Seizures, benign familial neonatal, 1 0 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 0 0 0 1
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 1 0 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 0 1
Short stature with nonspecific skeletal abnormalities 0 1 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 1 0 0 0 0 1
Short stature-advanced bone age-early-onset osteoarthritis syndrome 1 0 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 1 0 0 0 0 1
Shukla-Vernon syndrome 0 0 1 0 0 1
Sialidosis type 2 0 1 0 0 0 1
Smith-Lemli-Opitz syndrome 0 1 0 0 0 1
Sotos syndrome 1 0 0 0 0 1
Spastic ataxia 11, autosomal dominant 0 1 0 0 0 1
Spastic ataxia 2 0 1 0 0 0 1
Spastic ataxia; Cerebellar ataxia 1 0 0 0 0 1
Spastic paraplegia 18a, autosomal dominant 0 0 1 0 0 1
Spastic paraplegia 88, autosomal dominant 0 0 1 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 1 0 0 0 1
Spastic paraplegia, mitochondrial 0 1 0 0 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 0 0 0 1
Spermatogenic failure 36 0 0 1 0 0 1
Spinocerebellar ataxia 47 1 0 0 0 0 1
Spinocerebellar ataxia 48 0 0 1 0 0 1
Spinocerebellar ataxia type 14; Autosomal dominant cerebellar ataxia 0 0 1 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 0 1
Spinocerebellar ataxia type 5 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 0 0 0 1
Split hand-foot malformation 4 0 0 1 0 0 1
Spondyloepiphyseal dysplasia, Kimberley type 1 0 0 0 0 1
Stankiewicz-Isidor syndrome 1 0 0 0 0 1
Supravalvar aortic stenosis 1 0 0 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 0 1
Syndromic microphthalmia type 5 1 0 0 0 0 1
Tay-Sachs disease 0 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 1 0 0 0 0 1
Thomsen and Becker disease 0 1 0 0 0 1
Thrombocytopenia 1 1 0 0 0 0 1
Treacher Collins syndrome 1 0 0 0 0 1
Treacher Collins syndrome 1 1 0 0 0 0 1
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 1 0 0 0 0 1
Trisomy 12p 1 0 0 0 0 1
Tuberous sclerosis 2; Tuberous sclerosis syndrome 1 0 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 1 0 0 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 0 0 1
Uncombable hair syndrome 1 1 0 0 0 0 1
Unverricht-Lundborg syndrome 0 1 0 0 0 1
Usher syndrome type 1C 1 0 0 0 0 1
Usher syndrome type 1F 0 1 0 0 0 1
Usher syndrome type 1G 1 0 0 0 0 1
Usher syndrome type 2 1 0 0 0 0 1
Usher syndrome type 2D 1 0 0 0 0 1
Usher syndrome type 3A 0 1 0 0 0 1
Variegate porphyria 1 0 0 0 0 1
Variegate porphyria, childhood-onset 0 1 0 0 0 1
Ververi-Brady syndrome 1 0 0 0 0 1
Ververi-Brady syndrome 1 1 0 0 0 0 1
Visceral myopathy 2 0 1 0 0 0 1
Vissers-Bodmer syndrome 0 1 0 0 0 1
Wagner disease 1 0 0 0 0 1
Warburg micro syndrome 4 1 0 0 0 0 1
Warsaw breakage syndrome 1 0 0 0 0 1
Williams syndrome 1 0 0 0 0 1
Woolly hair-skin fragility syndrome 0 0 1 0 0 1
X-linked chondrodysplasia punctata 1 1 0 0 0 0 1
X-linked cone-rod dystrophy 3 1 0 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 0 1
XK-related neurodegenerative disease 1 0 0 0 0 1
Xeroderma pigmentosum, group D 0 1 0 0 0 1

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