PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: PARKINSON DISEASE, LATE-ONSET ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET 		0.700 GeneticVariation UNIPROT Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology. 29311685 2018
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET 		0.700 GeneticVariation UNIPROT PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. 19966284 2010
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET 		0.700 GeneticVariation UNIPROT Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236 2003
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET 		0.700 GeneticVariation UNIPROT Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. 12730996 2003