SNX14, sorting nexin 14, 57231

N. diseases: 59; N. variants: 12
Disease: Cerebellar Hemiataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia 		0.300 Biomarker phenotype CTD_human Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. 25848753 2015