Disease Term Disease ID Gene Symbol References
Impaired cognition C0338656 ACTN1 26252872
ADCY2 26252872
ADD3
AKT1
ALOX12B
BIN1 30503753
SLC25A4
APP 25288670
FAS
ATM
ATP1A3
ATP2B2 26252872
ATR
AUH
BDNF
BNIP3L 26252872
BRAF
C1QA
C1R
CACNA1C 28696432
KRIT1
CD36 26252872
CDH4 26252872
CENPE
CHRM3
CHRNG
CLU 30503753
COL1A1
COL3A1
COL4A1 17938367
COL5A1
COL5A2
CR1 30503753
CTNS
CTSK
DCC
DDB2
DGUOK
DHCR7
DMD
EBF1 26252872
EDN3
EPRS1
ERCC2
ERCC3
ERCC4
ERCC5
ERF
FBN1
FKTN
GPC4
FGD1
FGF14
FGFR3
FLNA
MTOR
GABRD
GABRG2
GBE1
GCDH
GDNF
GJB2
GLA
GM2A
GNAS
GRID2
GRIN2B
HARS1
CFH
CFHR1
INSR
IRAK1
ITGA7
ITPR1
KCNMA1
KCNQ2
KCNQ3
KIF5A
KRT6A
KRT6B
KRT16
KRT17
KRT81
KRT83
KRT86
LAMA2
LAMP2
LASP1 26252872
MAG
MAOA
MECP2
MEOX1
ND5
RNR1
TRNF
TRNH
TRNK
TRNL1
TRNP
TRNQ
TRNS1
TRNS2
MYH3
NAGA
NFIA
NOTCH3 19528524
NPC1
NPHP1
OCRL
PCNT
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PGM3
PIK3CA
POLG
PKIB 26252872
PRKCG
HTRA1 26063658
PTCH1
PTEN
NECTIN2 30503753, 31201950
PEX19
PEX2
PEX5
RBBP8
RMRP
RTN2 26252872
ATXN1
SCN1A
SCN1B
SCN2A
SCN8A
SCN9A
SDHA
SDHB
SDHC
SDHD
ST6GAL1 28560309
SLC2A1
SLC18A2
SORL1 30503753
SPAST
SPP1
SPR
SPTBN2
STAT1
STAT4
SULT2B1
TGFBR2 26252872
TGM1
TK2
TP53
TSC1
TSC2
HIRA 26252872
UBA1
USH2A
XPA
XPC
XRCC4
GDF5
SMC1A
LAGE3
PICALM 30503753
CDC45 26252872
LTBP4
PEX3
IKBKG
CADPS 26252872
EIF4G3 26252872
PEX11B
EIF2B5 603896
CACNA1G
PHOX2B
SLC7A7
SMC3
CTDP1
LARGE1
CRLF1
PLAA
PEX16
ATG5
MPDU1
GDF3
TTC37
DNAJC6
AP5Z1
TSFM
RBM12
AASS
SLC25A15
TRAIP
KATNB1
SLC30A9
SEC23B
POMT1
PLK4
WDR4
GJB6
SDCCAG8
CFHR3
PPARGC1A 26252872
TBC1D8 26252872
POLG2
PDCD10
PNKP
DOLK
CEP152
MYT1L 26252872
SPART
PSD3 26252872
ATP13A2
ABCA5
CLCF1
DSTYK
MTO1
ABCA12
PTPN22
GMPPB
SEC61A1
POMT2
RRM2B
HP1BP3 26252872
SOST
TPRKB
UBR5 22833209
TRIM34 26252872
TSPEAR-AS1 27736875
TSPEAR 27736875
GNG2 26252872
RIN2
TMCO1
ADAMTSL4
LZTFL1
RBFOX1 26252872
APTX
TTC19
POMGNT1
OSGEP
PEX26
NUP133
CENPJ
TWNK
PARP6 22833209
NUP107
GJC2
KCNT1
ALOXE3
IRF2BPL
ROBO3
NSD1
SMYD3 31201950
PORCN
ALG12
FKRP
FA2H 31135052
BBS10
ALG9
CLMP
ALG13
PANK2
OPA3
SPG11
COASY
CCM2
ADGRV1
ATRIP
POMK
NKX6-2
WDR73
ALG2
MTRFR
BBIP1
MARS2
STX1B
TP53RK
CYP2U1
SDR9C7
TMEM132D 26252872
TTC8
MTFMT
CCDC78
METTL23
CYP4F22
C22orf39 26252872
BBS5
DNAJC21
VPS37A
DSG4
PPM1N 26252872
B3GALNT2
ARL6IP6
CEP120
NAGS
BBS12
TTC21A 26252872
IBA57
TSNARE1 26252872
NAALADL2 31201950
CFAP299 26252872
MAGI3 26252872
MYO1H
TAFA2 29339520
TMEM240
TUBB2B
NIPAL4
HCN1
GDF6
LINC02389 31201950
TRIM6-TRIM34 26252872
LIPN
SDHAF1
PFN1P1 26252872
KLLN
BIVM-ERCC5
LINC01505 26252872
KCNMA1-AS1
LINC01814 26252872