PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751037529
rs751037529
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
G 0.810 CausalMutation CLINVAR
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
C 0.800 CausalMutation CLINVAR
dbSNP: rs137853057
rs137853057
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
A 0.800 CausalMutation CLINVAR
dbSNP: rs137853058
rs137853058
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
T 0.800 CausalMutation CLINVAR
dbSNP: rs137853060
rs137853060
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
A 0.800 CausalMutation CLINVAR
dbSNP: rs147757966
rs147757966
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT
dbSNP: rs397514694
rs397514694
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
A 0.800 CausalMutation CLINVAR
dbSNP: rs55774500
rs55774500
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
T 0.800 CausalMutation CLINVAR
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0684249
Disease:
Carcinoma of lung
A 0.720 CausalMutation CLINVAR
dbSNP: rs137853055
rs137853055
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
A 0.710 CausalMutation CLINVAR
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0919267
Disease:
ovarian neoplasm
A 0.700 CausalMutation CLINVAR
dbSNP: rs137853056
rs137853056
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
T 0.700 CausalMutation CLINVAR
dbSNP: rs1562485799
rs1562485799
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
C 0.700 CausalMutation CLINVAR
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1843632
Disease:
LEPROSY, SUSCEPTIBILITY TO, 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0919267
Disease:
ovarian neoplasm
A 0.700 CausalMutation CLINVAR
dbSNP: rs397518439
rs397518439
Entrez Id: 5071;135138
Gene Symbol: PRKN;PACRG
PRKN;PACRG
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
A 0.700 CausalMutation CLINVAR
dbSNP: rs55961220
rs55961220
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700 GeneticVariation UNIPROT
dbSNP: rs747427602
rs747427602
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET
0.700 GeneticVariation UNIPROT
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
dbSNP: rs137853057
rs137853057
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
dbSNP: rs137853058
rs137853058
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
dbSNP: rs137853060
rs137853060
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
dbSNP: rs397514694
rs397514694
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
dbSNP: rs55774500
rs55774500
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998