Ataxia

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive ataxia due to ubiquinone deficiency 139485 COQ8A Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive ataxia, Beauce type 88644 SYNE1 Causal Pathogenic evidence from ClinVar - ClinVar
Ataxias, Hereditary C0004138 ABHD12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
FXN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
SACS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19892370 -
SETX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
SIL1 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 27604308 -
TPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
TTPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26981194 -
WFS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30171196 -
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) C1969796 KIF1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24319291, 24482476, 24808017, 26633545, 28687974 -
Ataxia, Spastic, 3, Autosomal Recessive C1969645 MARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16672289, 22448145, 25754315, 27604308 -
Autosomal recessive ataxia due to PEX10 deficiency 247815 PEX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATAXIA, SENSORY, AUTOSOMAL DOMINANT C1837015 RNF170 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21115467 -
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT C1970107 TAPBPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VAMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22958904, 27957547 -