Episodic ataxia

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