Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Genetic PrP Prion Diseases. 28778873

2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Prion diseases. 28987186

2017
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Genetics of prion diseases. 23518043

2013
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. 21911696

2011
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The genetics of prion diseases. 20216075

2010
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). 16769939

2006
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 16831973

2006
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Prion disease genetics. 16391566

2006
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. 15824374

2005
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR High incidence of genetic human transmissible spongiform encephalopathies in Italy. 15883322

2005
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations of the prion protein gene phenotypic spectrum. 12420099

2002
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. 12451207

2002
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. 11709001

2001
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Genetic influence on the structural variations of the abnormal prion protein. 10963679

2000
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. 10408557

1999
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles. 10541874

1999
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The prion diseases. 9669700

1998
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. 7699395

1994
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. 8250529

1993
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. 7902972

1993