Disease Term Disease ID Gene Symbol References
Cerebral cortical atrophy C4551583 ACO2
AMPD2
APP
RERE
ALDH7A1
ATRX
KIF1A
BRAF
CACNA1E
CDC42
CLCN4
DDB2
DGUOK
DKC1
DYRK1A
EIF4G1
ELN
EMX2
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
FGFR1
FOXG1
FMR1
GABRD
B4GALNT1
GBA
GNAQ
GRIA4
GRN
GTF2E2
GTF2I
HSD17B10
HTT
HIC1
HRAS
KRAS
LIMK1
LMNB1
MECP2
KMT2A
ATP6
COX1
COX2
COX3
ND1
ND4
ND5
ND6
MTRR
TRNF
TRNH
TRNL1
TRNQ
TRNS1
TRNS2
TRNT 8511015, 22638997, 29760464, 30236074
TRNW
MUC1
MVK
MYO7A
NDP
NOTCH3
OPHN1
PAFAH1B1
PRDX1
PARN
PEX7
PIGA
PPP2R2B
MAP2K1
MAP2K2
PRNP
PSEN1
PSEN2
ALDH18A1
RAD21
RAP1A
RAP1B
RFC2
RPS6KA3
ATXN2
SHH
SIX3
SKI
SLC2A3
SNCA
SORL1
SPG7
CDKL5
STXBP1
TBCD
HNF1B
TERT
TYROBP
UBE3A
UBTF
USH2A
KDM6A
VARS1
CLIP2
WFS1
XPA
XPC
YWHAE
RNF113A
KMT2D
SMC1A
TRRAP
CNTNAP1 27668699
KCNAB2
IKBKG
CASK
ST3GAL5
SQSTM1
AP1S2
BAZ1B
SMC3
CTDP1
AP4M1
LARGE1
ZNHIT3
PLAA
NRXN1
PIGL
MPDU1
GABBR2
GTF2IRD1
FRMPD4
USH1C
BCAP31
SLC25A15
ABCA7
TOMM40
SLC9A6
CIB2
POMT1
AP4B1
PLK4
CLP1
POLR3A
AP4S1
PLPBP
EXOSC8
DOLK
NTNG1
TRAK1
RAB3GAP1
RAB18
POGZ
RHOBTB2
VPS13A
CAMTA1
BICD2
DNAJC13
SPECC1L
ATP13A2
AP4E1
PIGN
RAB3GAP2
CIZ1
NIPBL
WHRN
MMACHC
CHMP2B
SETBP1
CNTNAP2
GIGYF2
TINF2
TBL2
TUBGCP4
GPKOW
MMADHC
TBK1
PYCR2
GMPPB
POMT2
TRAPPC12
OTUD6B
RTEL1
TREM2
TMCO1
NDE1
VPS13C
RNF125
TMEM70
RMND1
DARS2
SETD5
SLC35C1
SLC39A4
PIGV
IARS2
POLR3B
VPS35
HDAC8
KMT2E
KLHL7
TWNK
SNX14
JPH3
KCNT1
ALS2
GBA2
EPG5
PRUNE1
GUF1
PRDM16
CDH23
SLC39A8
ACD
PCDH15
FKRP
FA2H
SLC52A2
ALG13
PDZD7
PGAP1
SPG11
TRAPPC9
ADGRV1
TUBGCP6
RFT1
MARS2
PIGS
SLC52A3
NUS1
LRRK2
TRAPPC6B
USH1G
TBC1D20
GLYCTK
MPLKIP
B3GLCT
ARX
ASXL1
PHACTR1
SLC13A5
NEXMIF
LIPT2
GTF2H5
CISD2
OCLN