Spastic ataxia

Disease Term Disease ID Gene Symbol Classification References Source
Spastic Ataxia C1849156 AFG3L2 Causal Pathogenic evidence from ClinVar - ClinVar
KIF1C Causal Pathogenic evidence from ClinVar - ClinVar
MARS2 Causal Pathogenic evidence from ClinVar - ClinVar
MTPAP Causal Pathogenic evidence from ClinVar - ClinVar
SACS Causal Pathogenic evidence from ClinVar - ClinVar
VAMP1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNA1G Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLRX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MMADHC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRDM8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TBCE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TUBB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE C3280977 AFG3L2 Causal Pathogenic evidence from ClinVar 22022284, 22964162, 27165006, 27604308, 30544562 ClinVar
TUBB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE C3150925 MTPAP Causal Pathogenic evidence from ClinVar 20970105, 27391121, 27959697 ClinVar
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE C1849140 SACS Causal Pathogenic evidence from ClinVar 10655055, 11788093, 12873855, 14718708, 15156359, 15486997, 15985586, 16007637, 16944349, 16961075, 17290461, 17349660, 17516465, 17716690, 18398442, 18465152, 18484239, 18569450, 18604465, 19208651, 19529988, 19892370, 20368637, 20798953, 20852969, 20876471, 21450511, 21507954, 21597885, 21665375, 21993619, 22751902, 22805644, 22816526, 23043354, 23250129, 23280630, 23338241, 23497566, 24318559, 24384335, 26010040, 26068213, 26288984, 26366743, 27133561, 27871429, 28641335, 28658401 ClinVar
Autosomal dominant spastic ataxia type 1 251282 VAMP1 Causal Pathogenic evidence from ClinVar - ClinVar