PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72480423
rs72480423
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.010 GeneticVariation BEFREE Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). 15365989 2004