ATG5, autophagy related 5, 9474

N. diseases: 282; N. variants: 36
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539808
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 		0.300 GeneticVariation disease UNIPROT Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. 26812546 2016