Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker BEFREE PARK2 is an autosomal recessive parkinsonism caused by parkin gene mutations. 26626785

2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Parkin (PARK2) gene mutations are the predominant cause of autosomal recessive parkinsonism. 22445249

2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Parkin (PARK2) gene mutations are the major cause of autosomal recessive parkinsonism. 18987353

2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Mutations in PINK1 and PARK2 cause autosomal recessive parkinsonism, a neurodegenerative disorder that is characterized by the loss of dopaminergic neurons. 19684592

2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Mutations of the Park2 gene cause autosomal recessive parkinsonism with neuropathological findings consistent with neurofibrillary tangles and tau immunoreactive lesions. 18022644

2008
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism. 17676595

2007
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Early-onset autosomal recessive parkinsonism is associated with parkin gene mutations. 15197707

2004
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Mutations in the parkin gene are responsible for autosomal recessive parkinsonism. 14678753

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. 12781588

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Parkin gene mutations have been detected in families with early-onset autosomal recessive parkinsonism. 12815654

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE One early onset subject presented a mutation in the parkin gene consistent with autosomal recessive parkinsonism. 12548339

2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Autosomal recessive parkinsonism associated with mutations in the parkin gene represents a monogenic form of hereditary parkinsonism. 11911988

2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Parkin gene mutations are present in Spanish patients with early onset and/or an autosomal recessive parkinsonism. 12397156

2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE On the other hand, mutations in the parkin gene cause autosomal recessive parkinsonism of early onset. 11697518

2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE A gene causing autosomal recessive parkinsonism of juvenile onset has been mapped to chromosome 6 (PARK 2), and the causative gene has been identified and named parkin. 11128611

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE Mutations in the Parkin gene are responsible for autosomal recessive parkinsonism. 11193165

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation BEFREE We have analysed the 12 coding exons of the parkin gene in 35 mostly European families with early onset autosomal recessive parkinsonism. 10072423

1999