Disease Term Disease ID Gene Symbol Classification References Source
Ataxia, Spinocerebellar C0087012 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 25664129 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 11985388, 16899342 ClinVar
CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
SPINOCEREBELLAR ATAXIA 28 C1853249 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537, 20354562, 20725928, 22022284, 22964162, 24293060, 26677414, 27604308, 29053796, 30544562 ClinVar
Spinocerebellar Ataxia Type 1 C0752120 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722, 24896178 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 25664129 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 11985388, 16899342 ClinVar
CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 2 C0752121 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 25664129 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 11985388, 16899342 ClinVar
CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia type 28 101109 AFG3L2 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 4 C0752122 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 25664129 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 11985388, 16899342 ClinVar
CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 5 C0752123 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 25664129 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 11985388, 16899342 ClinVar
CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 6 (disorder) C0752124 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 25664129 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 8988170, 9302278, 9345107, 11985388, 16325861, 16899342, 17575281, 20682717, 21734179, 27250579, 27476654, 29053796 ClinVar
CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 7 C0752125 AFG3L2 Causal Pathogenic evidence from ClinVar 20208537 ClinVar
ANO10 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN1 Causal Pathogenic evidence from ClinVar 11719269, 16122429, 17322884, 18337722 ClinVar
ATXN7 Causal Pathogenic evidence from ClinVar 9288099, 25664129, 27604308 ClinVar
CACNA1A Causal Pathogenic evidence from ClinVar 11985388, 16899342 ClinVar
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 C3150998 ANO10 Causal Pathogenic evidence from ClinVar 21092923, 25182700 ClinVar
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 C4539808 ATG5 Causal Pathogenic evidence from ClinVar 26812546 ClinVar
Spinocerebellar ataxia type 1 98755 ATXN1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia type 7 94147 ATXN7 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia type 6 98758 CACNA1A Causal Pathogenic evidence from ClinVar - ClinVar
SPINOCEREBELLAR ATAXIA 42 C4225205 CACNA1G Causal Pathogenic evidence from ClinVar 26456284, 26715324, 28726809, 29878067 ClinVar
Spinocerebellar ataxia type 42 458803 CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar