Disease Term Disease ID Gene Symbol Classification References Source
Spinocerebellar Ataxia Type 7 C0752125 CACNA1G Causal Pathogenic evidence from ClinVar - ClinVar
CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
Ataxia, Spinocerebellar C0087012 CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
MME Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 1 C0752120 CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 2 C0752121 CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 4 C0752122 CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 5 C0752123 CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar Ataxia Type 6 (disorder) C0752124 CWF19L1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL5 Causal Pathogenic evidence from ClinVar - ClinVar
GRID2 Causal Pathogenic evidence from ClinVar - ClinVar
GRM1 Causal Pathogenic evidence from ClinVar - ClinVar
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 C4015301 CWF19L1 Causal Pathogenic evidence from ClinVar 25361784, 26197978, 30167849 ClinVar
SPINOCEREBELLAR ATAXIA 26 C1836395 EEF2 Causal Pathogenic evidence from ClinVar 23001565 ClinVar
Spinocerebellar ataxia type 26 101112 EEF2 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia type 38 423296, C4518337 ELOVL5 Causal Pathogenic evidence from ClinVar 25065913 ClinVar
SPINOCEREBELLAR ATAXIA 27 C1836383 FGF14 Causal Pathogenic evidence from ClinVar 12489043, 15470364, 16211615, 26089778 ClinVar
Spinocerebellar ataxia type 27 98764 FGF14 Causal Pathogenic evidence from ClinVar - ClinVar
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 C4015505 GRID2 Causal Pathogenic evidence from ClinVar 20395510, 23611888, 24078737, 25841024, 27418511 ClinVar
SPINOCEREBELLAR ATAXIA 44 C4521563 GRM1 Causal Pathogenic evidence from ClinVar 28886343 ClinVar
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 C3553816 GRM1 Causal Pathogenic evidence from ClinVar 22901947, 26308914 ClinVar
SPINOCEREBELLAR ATAXIA 15 C1847725 ITPR1 Causal Pathogenic evidence from ClinVar 17590087, 18579805, 22986007, 27062503, 27108797 ClinVar
SPINOCEREBELLAR ATAXIA 29 C1861732 ITPR1 Causal Pathogenic evidence from ClinVar 22986007, 26257172, 26770814, 27062503, 27108797, 28659154, 29925855 ClinVar
Spinocerebellar ataxia type 15/16 98769, C4274322 ITPR1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia type 29 208513 ITPR1 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia 13 C1854488 KCNC3 Causal Pathogenic evidence from ClinVar 16501573, 19953606, 21479265, 22289912, 23734863, 25152487, 25756792 ClinVar
Spinocerebellar ataxia type 13 98768 KCNC3 Causal Pathogenic evidence from ClinVar - ClinVar
Spinocerebellar ataxia 19 C1846367 KCND3 Causal Pathogenic evidence from ClinVar 22890214, 23280837, 23280838, 28895081 ClinVar
Spinocerebellar ataxia type 19/22 98772 KCND3 Causal Pathogenic evidence from ClinVar - ClinVar
SPINOCEREBELLAR ATAXIA 43 C4310763 MME Causal Pathogenic evidence from ClinVar 27583304 ClinVar