CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 25359263 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO