PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Parkinson's Disease in Saudi Patients: A Genetic Study. 26274610 2015
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423 1999
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. 16769863 2006
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Lewy bodies and parkinsonism in families with parkin mutations. 11558785 2001
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. 17766365 2008
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074 2000
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. 18211709 2008
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. 16643317 2006
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism. 12397156 2002
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. 23770917 2013
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Autoregulation of Parkin activity through its ubiquitin-like domain. 21694720 2011
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease. 16227559 2005
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Molecular findings in familial Parkinson disease in Spain. 12056932 2002
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. 23275044 2013
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. 16339143 2006
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants. 25907632 2015
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain. 21348451 2011
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Parkin analysis in early onset Parkinson's disease. 18519021 2008
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR PARKIN Inactivation Links Parkinson's Disease to Melanoma. 26683220 2016
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR RING finger 1 mutations in Parkin produce altered localization of the protein. 14519684 2003
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China. 24831986 2014
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR How much phenotypic variation can be attributed to parkin genotype? 12891670 2003
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.500 CausalMutation disease CLINVAR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.460 CausalMutation disease CLINVAR
CUI: C1843632
Disease: LEPROSY, SUSCEPTIBILITY TO, 2
LEPROSY, SUSCEPTIBILITY TO, 2 		0.400 CausalMutation disease CLINVAR