PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Lafora Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147028059
rs147028059
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0751783
Disease:
Lafora Disease 		0.010 GeneticVariation BEFREE Herein, we describe a 13-years-old child with LD due to a <i>NHLRC1</i> (c.386C > A, p.Pro129His) mutation, who has developed diabetes mellitus and was treated with metformin. 30701169 2018