ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: KUFOR-RAKEB SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749798211
rs749798211
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016