Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation phenotype BEFREE Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia. 30871974 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 CausalMutation phenotype CLINVAR