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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 PITRM1 Causal ClinVar, Disgenet, HPO
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 ATG7 Causal ClinGen, ClinVar, Disgenet, GWAS catalog, HPO
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 PRDX3 Causal ClinVar, Disgenet, GWAS catalog, HPO
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 TDP1 Causal ClinVar, Disgenet, GWAS catalog, HPO
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 SETX Causal — ClinVar, GenCC, HPO
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 COA7 Causal CTD, ClinVar, Disgenet, HPO
All104 Causal56 Unknown95