Episodic ataxia

Disease Term Disease ID Gene Symbol References
Episodic Ataxia C1720189 ATP1A2
ATP1A3
CACNA1A 25735478
CACNB4 10762541
GNAO1
KCNA1 17575281
NEUROD2
NFIX
OTC
PDHA1
SCN2A 20956790
SLC1A3
SLC2A1
CDKL5
STXBP1
CASK
PIGQ
PNKP
UBR4 23982692
PIGP
SLC25A22
TRIM8
SIK1
ARX
SLC6A19
Episodic ataxia type 2 (disorder) C1720416 CACNA1A 9488686, 27250579, 24270521, 24420976, 15293273, 8898206, 11723274, 17575281, 10408533, 11971066, 15173248, 11814735, 28742085, 27476654, 23038654, 19232643, 23071170, 28169007, 16325861, 10371528, 26795593, 25735478, 10987655, 11176968, 10024348, 27066515, 14718690, 19486177, 15452324, 12756131, 21734179, 12420090, 21696515, 20129625, 18602318, 19182766, 11985388, 25274239, 9302278
EPISODIC ATAXIA, TYPE 5 C1866039 CACNB4 10762541, 18446307
Episodic ataxia type 1 C1719788, 37612 KCNA1 19307729, 24578548, 15532032, 12077175, 8845167, 8541859, 17575281, 10355668, 11026449, 17156368, 11013453, 8871592, 19903818, 17136396, 7842011, 9600245, 27730449
EPISODIC ATAXIA, TYPE 6 (disorder) C2675211 SLC1A3 19139306, 27829685, 16116111
Episodic ataxia type 6 209967 SLC1A3
Episodic ataxia type 5 211067 CACNB4