PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Hallervorden-Spatz Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771071114
rs771071114
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.010 GeneticVariation BEFREE The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with PKAN. 22103354 2012