PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Genetic PrP Prion Diseases. 28778873 2018
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Prion diseases. 28987186 2017
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Genetics of prion diseases. 23518043 2013
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. 21911696 2011
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The genetics of prion diseases. 20216075 2010
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). 16769939 2006
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 16831973 2006
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Prion disease genetics. 16391566 2006
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. 15824374 2005
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR High incidence of genetic human transmissible spongiform encephalopathies in Italy. 15883322 2005
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. 12451207 2002
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations of the prion protein gene phenotypic spectrum. 12420099 2002
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. 11709001 2001
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Genetic influence on the structural variations of the abnormal prion protein. 10963679 2000
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles. 10541874 1999
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. 10408557 1999
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The prion diseases. 9669700 1998
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 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
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 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
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. 8250529 1993