Disease Term Disease ID Gene Symbol References
Cerebellar atrophy C0740279 ACO2
ACY1
ADSL
SLC25A4
ATP1A3
ATP2B3
ATP6V1A
KIF1A 26486474
BCS1L
CA8
CACNA1A
SCARB2
CDC42
LYST
ERCC8
CLCN7
TPP1
COL4A1
CRAT
CTSD
CYB5A
CYP27A1
DAB1
CYB5R3
DNMT1
EEF2
CLN8
ERCC3
ERCC5
ERCC6
FAT2
FKTN
FGF12
FGF14
FMR1
GNAO1
GRID2
GRN
GRM1
HARS1
HTT
IFRD1
STT3A
ITPR1
KCNA1
KCNC3
KCND3
KCNJ10
KCNMA1
MAG
MAN2B1
MDH2
MECP2
ATXN3
MME
MRE11
MVK
MYH3
NDUFA9
NDUFS1
NDUFS4
NEUROD2
OPA1
PCNA
PDYN
PEX10
EXOSC9
POLG
PPP2R2B
PRKCG
DNAJC3
PRNP
PSEN1 24121961
PEX2
PCYT2 31637422, 22764088
RFC1
ATXN1
ATXN7
ATXN8OS
SCN2A
SCN8A
SLC1A3
SPG7
SPTAN1
SPTBN2
ELOVL4
CDKL5
STXBP1
TAF1
TBCD
TBCE
TBP
TK2
TOP3A
TRPC3
UBTF
UCHL1
SLC35A2
VARS1
VLDLR
XRCC1
ZIC1
AIMP2
NUP214
LAGE3
PLA2G6
CNTNAP1 27668699
DEGS1
CASK
CTSF
GPAA1
CACNA1G
PIGQ
AP4M1
SLC33A1
CACNA2D2 15331424
ZNHIT3
COG1
PMPCB
MPDU1
TECPR2
DNM1L 26604000, 27145208
BCAP31
ATP6AP2
ALG3
STUB1
WARS2
TUBB4A
COG5
SLC9A6
NOP56
RNASEH2A
POMT1
MTHFS
FARS2
AP4B1
PLK4
KIF1C
PNPLA6
MAGED2
AFG3L2
POLR3A
WDR45
AP4S1
POLG2
PNKP
DHX30
SETX
EMC1 27657687, 26942288
SPART
POGZ
AGTPBP1
SYNE1
ATP13A2
EXOSC2
AP4E1
SLC39A14
PIK3R5
PIGN
PLD3
FRRS1L
CIZ1
ATXN10
TXN2
RTTN
ABHD12 29571850
SACS
CYFIP2
COQ2
PCLO
RRM2B
EXOSC3
YARS2 26604000, 27145208
SEPSECS
PIGP
UFM1
LIPT1
PIGT
PTRH2
WWOX
ATP8A2
RNF216
GTPBP2
GDAP2
APTX
TTC19
ADPRS
ANO10
MSTO1
DARS2
ATAD3A
VPS53
FOXRED1
OSGEP
PACS1
POLR3B
CCDC88A
NGLY1
TDP1
VPS11
TWNK
MFF
COQ8A
COQ9
RARS2
MCOLN1
SNX14
SCYL1
GBA2
OVOL2 28711739
PRUNE1
ELOVL5
ZNF335
SLC39A8
IRF2BPL
COA7
FKRP
FA2H
SRD5A3
NARS2
SLC25A22
ALG9
UBA5
L2HGDH
OPA3
TSEN2
COL18A1
LNPK
CLPB
TRIM8
TMEM47
COG8
NKX6-2
WDR73
SERAC1
REPS1
RFT1
COG7
MGME1 28711739
MARS2
PIGS
TRAPPC6B
WDR81
MICOS13
TBC1D20
TANGO2 26805781
NADK2
TTBK2
BEAN1
SIK1
CKAP2L
KCTD7
TMEM92
ARX
FCSK
IBA57
VWA3B
STT3B
SAMD9L
HEPACAM
BRAT1
RNASEH1
SYT14
MFSD8
RNU12
SUMF1
TMEM240
TGM6
TUBB2B
ATXN8
CRPPA
BIVM-ERCC5
EMC1-AS1 27657687, 26942288