PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: Parkinson Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315359
rs74315359
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE Thr-313 was the primary phosphorylation site, a residue mutated to a non-phosphorylatable form (T313M) in a frequent variant of PD. 22238344 2012
dbSNP: rs74315359
rs74315359
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE However, the heterozygous T313M mutation does not act as a PD susceptibility factor, which is in contrast to several reports of mutations affecting only 1 PINK1 allele discovered in sporadic PD. 17030667 2006