SNX14, sorting nexin 14, 57231

N. diseases: 59; N. variants: 12
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 Our results characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction. 25848753 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO