PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Prion Diseases ×
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: C0162534
Disease:
Prion Diseases 		0.750 GeneticVariation BEFREE Familial forms of human prion disease include those associated with the mutations G114V and A117V, which lie in the hydrophobic domain of PrP. 24352465 2014
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.750 GeneticVariation BEFREE We conclude that GSS A117V is indeed a pr</span>ion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established. 24086135 2013
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.750 GeneticVariation BEFREE Molecular dynamics calculations demonstrated the conformational change in the prion protein due to Ala(117)-->Val mutation, which is related to Gerstmann-Sträussler-Sheinker disease, one of the familial prion diseases. 11964260 2002
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.750 GeneticVariation BEFREE Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family. 11385020 2001
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.750 GeneticVariation BEFREE Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. 10506086 1999
dbSNP: rs74315402
rs74315402
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		T 0.750 CausalMutation CLINVAR