PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob Disease, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315403
rs74315403
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.030 GeneticVariation BEFREE One such mutation (Asp178 --> Asn) is associated with two distinct disorders: fatal familial insomnia or familial Creutzfeldt-Jakob disease, depending upon the presence of Met or Val at position 129, respectively. 16313190 2005
dbSNP: rs74315403
rs74315403
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.030 GeneticVariation BEFREE Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993. 15806397 2005
dbSNP: rs74315403
rs74315403
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.030 GeneticVariation BEFREE Thus, the amino acid, methionine or valine, at position 129 of the mutant allele, in conjunction with D178N mutation results in significant alterations of PrPres in FFI and CJD178. 7767490 1995