Disease Term Disease ID Gene Symbol References
Strabismus C0038379 ABCB7
ACO2
ACOX1
ADSL
JAG1
AKT1
ALX3
SLC25A4
ARL3
ARVCF
ASCL1
ATM
RERE
ATP2B3
ALDH7A1
ATP6V1A
ATP6V1E1
ATR
BBS1
BCS1L
FOXL2
BRCA1
BRAF
BRCA2
CA8
CACNA1A
CACNA1B
CACNA1F
CAMK2A
CAMK2B
CDC42
CDH3
CDH11
CHAT
CHD3
CHN1
LYST
CHRNA7
CHRNE
CHRNG
ERCC8
CLCN4
COL11A1
COL11A2
COMT
COX10
COX15
CRYAA
CTBP1
CTNNB1
CYP1B1
DDB2
DDOST
DGUOK
DHCR7
DHCR24
DHODH
CYB5R3
DKC1
DLG3
SARDH
DMPK
DYNC1H1
DVL1
DVL3
ECHS1
EIF2S3
ELN
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERF
EVC
EXT2
EZH2
FANCA
FANCC
FANCD2
FANCE
ACSL4
BPTF
FANCB
FANCF
FANCG
FBN1
FKTN
FGD1
FGF3
FGF8
FGF14
FGFR1
FGFR3
FGFR2
FOXG1
FOXC1
FOXE3
FLI1
FLII
FLNA
FMR1
MTOR
FZD2
GABRD
GALC
GAS1
GATA4
GBA
GFPT1
GGCX
GJA1
GK
GLI1
GLI2
GNAO1
GNAQ
GNAS
GNAT1
GNB1 27108799
GNB3
GP1BB
GRIA4
GRIN1
GRM6
GTF2I
H1-4
H3-3A
HNRNPU
HOXA13
HRAS
HSD17B4
HSPD1
HSPG2
IGF1R
RBPJ
KCNA1
KRAS
L1CAM
LAMB2
LBR
LETM1
LIG4
LIMK1
MAB21L1
SMAD4
MC1R
MDH2
MECP2
MEF2C
MITF
KMT2A
TRPM1
ND1
ND2
ND3
TRIM37
MYH3
MYO5A
NAGA
NDP
NDUFA1
NDUFA2
NDUFA4
NDUFA6
NDUFA9
NDUFA10
NDUFB3
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NEUROD2
NFIX
NHS
NODAL
NONO
NOTCH1
NPHP1
NRAS
ROR2
GPR143
OCA2
OCRL
OPA1
OPHN1
ORC1
OTX2
PAH
PAX2
PAX3
PAX6
PBX1
PDE6B
PDHA1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PITX2
PMM2
POU3F4
PPP2R5D
PRKAR1A
MAP2K1 17366577, 17567882, 16439621, 19156172, 17551924, 17981815, 18042262
MAP2K2
PTCH1
PTEN
PTPN11
PURA
PEX19
PEX2
PEX5
PYCR1
ALDH18A1
QARS1
RAD21
RAD51
RAD51C
RAF1
RAP1A
RAP1B
RASA2
DPF2
RET
REV3L
RFC2
RHO
GRK1
RIT1
RMRP
RPS6KA3
RPS19
RRAS
RREB1
SAG
SALL1
SCN2A
SDHA
SHH
SIM1
SIX3
SKI
SLC2A1
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SON
SOS1
SOS2
SOX2
SOX3
SOX4
SOX5
SOX11
SPTBN2
SSR4
ELOVL4
CDKL5
STXBP1
ABCC8
SURF1
VAMP1
SYT1
TAF1
MAP3K7
TBX1
TBX15
TCF4
TCF12
TCF20
TCOF1
TDGF1
TFAP2A 25590586
TFAP2B
NR2F1
TGFBI
TGIF1
TRIO
HIRA
TWIST1
TYR
TYRP1
UBA1
UBE2A
UBE3A
UFD1
SLC35A2 30817854
KDM6A
VLDLR
BEST1
CLIP2
WHCR
NSD2
NELFA
WNT5A
XPA
XPC
XRCC2
YY1
ZIC1
ZIC2
ZBTB16
BRPF1
USP7
KAT6A
SHOC2
KMT2D
GDF5
LZTR1
USP9X
KDM5C
SMC1A
ARID1A
CDC45
PLA2G6
PRSS12
PPM1D
PEX3
KCNAB2
IKBKG
AP3B1
CASK
CDK13
PTCH2
MPDZ
PEX11B
SUCLA2
DPM1
DPM2
HESX1
SGPL1
MCM3AP
AP1S2
CACNA1G
HERC2
FOXH1
PHOX2B
AP3D1
BAZ1B
PIGQ
SMC3
CTDP1
FIBP
AP4M1
ARHGEF2
SLC24A1
LARGE1
RAB11B
NOG
CACNA2D2
ADGRG1
TRIP12
TRIP11
LONP1
NRXN1
RECQL4
PEX16
PIGL
TBX4
MPDU1
POLR1C
GTF2IRD1
SEC24C
SEMA3E
CEP104
FRMPD4
TMEM94
KIAA0586
ZEB2
ARNT2
KIF14
MAFB
AMMECR1
MED12
SLC12A6
DNM1L
HUWE1
PQBP1
LRPPRC
BCAP31
LPAR6
ALG3
CD96
APC2
TUBB3
YAP1
MAD2L2
PIBF1
COG5
SLC9A6
DEAF1
POMT1
MAB21L2
CTCF
FARS2
CLDN16
AP4B1
YME1L1
PLK4
RAI1
KDM5B
GJB6
CPLX1
SRCAP
PNPLA6
CLP1
TLK2
MID2
AP4S1
ERLIN2
PLPBP
HPS5
TREX1
PNKP
MRAS
PUF60
DHX30
MAST1
SETX
ZNF423
IQSEC2
SPART
POGZ
PLXND1
MAPK8IP3
PACS2
KATNIP
DDHD2
CAMTA1
AGTPBP1
SATB2
RPGRIP1L
NEDD4L
SYNE1
SPECC1L
MED13L
ADNP
ATP13A2
AP4E1
MACF1
KAT6B
PIK3R5
ATP6V0A2
LEMD3
KCNE5
NIPBL
NDUFAF3
SIN3A
SH2B1
TMEM98
CNTNAP2
AUTS2
TRAF3IP1
FBXL3
HIBCH
TBL2
B9D1
FOXP1
TUBGCP4
DLL1
SETD2
NDUFAF4
UBE2T
ANKRD11
HOOK2
GMPPB
ALG6
POMT2
SLC25A24
NSDHL
CDON
EXOSC3
GMNN 26637980
YARS2
NDUFA13
POLR1D
MLXIPL
ABHD5
NDUFAF1
ZDHHC9
SLC45A2
TACO1
GLRX5
PIGP
CCDC174
TMEM216
TIMMDC1
PHF21A
WAC
DACT1
ACTL6B 31134736
TMEM138
LARP7
LIPT1
PIGT
DYNC2LI1
SUFU
ATP8A2
INPP5K
BCL11A
FGFRL1
PRMT7
TMCO1
NDUFB11
MAGEL2
DLL4
AHI1
NSUN2
NCAPG2
MKS1
ADPRS
PHIP
FANCL
RFWD3
SETD5
FANCI
FOXRED1
POMGNT1
CHD7
OSGEP
PEX26
PACS1
FRMD4A
HHAT
NUP133
AGK
NGLY1
ERMARD
MCTP2
VPS11
CENPJ
TMEM126B
HDAC8
ZC4H2
NDUFA12
KLHL7
INPP5E
KIF15
COQ8A
CABP4
GJC2
SALL4
THOC2
MCOLN1
GATAD2B
TBC1D24
SHROOM4
ARID1B 26350204, 22426309
ARHGAP31
PCDH19
HACE1
CC2D2A
DOCK6
FANCM
MPP4
NYX
ALX4
TRAPPC11
PIEZO2
PRDM16
SLC39A8
IFIH1
NSD1
NXN
SIL1
PORCN
TMEM237
RSRC2
CPLANE1
COLEC11
NDUFAF5
CCDC28B
FKRP
FA2H
TMEM231
TCTN1
PALB2
SLC25A22
SNIP1
HPS6
EHMT1
CSPP1
TCTN2
L2HGDH
CEP290
TTI2
FBXO11
ARMC9
NUBPL
WDR26
SLC19A3
COL18A1
ASXL3 27075689
SLC2A10
TRIM8
MED25
PUS3
MFRP
CDCA7
BRIP1
KIAA1109
ANTXR1
POMK
RNF135
SLX4
NKX6-2
COL25A1
SLC9A7
WDR73
DISP1
PIGY
SHANK3
TUBGCP6
UBE3B
RSPRY1
TMEM67
MTRFR
RFT1
NDUFAF2
STRADA
CACNA2D4
CEP41
KRT71
SCAMP4
ADAT3
CHST14
RAB39B
TWIST2
KRT74
TRAPPC6B
MTFMT
WDR81
NDUFA11
DMBX1
NAXE
PROKR2
EVC2
NDUFAF6
A2ML1
KRT25
B3GALNT2
CLDN19
SIK1
CEP120
VPS13B
ARX
ASXL1
ARID2
UBR1
FCSK
LIPH
ARL13B
HYLS1
JMJD1C
EBF3 28017372
NALCN 26923739
CHAMP1
KANSL1
SLC13A5
LAMA1
UNC80
EOGT
SLC6A19
LRIT3
TUBB2B
NDUFS7
NHLRC2
KIF7
ALG11
GPR179
PRSS56
PET100