PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: Parkinsonian Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940285
rs28940285
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders 		0.010 GeneticVariation BEFREE We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. 17055324 2007