Disease Term Disease ID Gene Symbol References
Choreoathetosis C0085583 ADAR
ATM
ATP1A2
ATP1A3
CACNA1B
CACNA1C
DDC
DLAT
ATN1
ERCC2
ERCC6
FTL
GCDH
GCH1
GNAO1
GNAS
HSD17B10
HPRT1
HSPD1
IREB2
KCNA1
KCNQ2
KCNQ3
MECP2
MIPEP
ATP6
MMUT
NDUFA1
NDUFA9
NEUROD2
PDHA1
PLP1
POLG
PTS
PURA
QDPR
SCN2A
SCN8A
SLC2A1
SPR
CDKL5
STXBP1
SUOX
SYT1
NKX2-1
XPA
CASK
ST3GAL5
AP1S2
PIGQ
XPR1
KMT2B
TUBB4A
SLC30A9
PNKP
SETX
PIK3R5
PIGN
NUP62
FRRS1L
PNKD
NDUFA13
PIGP
GTPBP2
APTX
ELP2
GJC2
GUF1
IRF2BPL
MRPS34
NDUFAF5
SLC25A22
PANK2
DCAF17
OPA3
CLPB
TRIM8
PNPT1
PRRT2
MICOS13
NADK2
SIK1
ARX
SLC25A42