Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5981
Gene Symbol: RFC1
RFC1 		0.300 Biomarker phenotype CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		0.300 Biomarker phenotype CTD_human Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. 25848753 2015
Entrez Id: 6157
Gene Symbol: RPL27A
RPL27A 		0.300 Biomarker phenotype CTD_human Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models. 21674502 2011
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.300 Biomarker phenotype CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810 2006