PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315411
rs74315411
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1847650
Disease:
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		0.800 GeneticVariation UNIPROT The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion Protein. 12214108 2000
dbSNP: rs74315411
rs74315411
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1847650
Disease:
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		0.800 GeneticVariation UNIPROT Familial spongiform encephalopathy associated with a novel prion protein gene mutation. 9266722 1997
dbSNP: rs74315411
rs74315411
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1847650
Disease:
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		G 0.800 CausalMutation CLINVAR
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1847650
Disease:
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		G 0.700 CausalMutation CLINVAR
dbSNP: rs74315414
rs74315414
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1847650
Disease:
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		A 0.700 CausalMutation CLINVAR