PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: New Variant Creutzfeldt-Jakob Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799990
rs1799990
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0376329
Disease:
New Variant Creutzfeldt-Jakob Disease 		0.030 GeneticVariation BEFREE To reevaluate this possibility and to analyze in detail the transmission properties of vCJD prions to transgenic animals carrying distinct codon 129 genotype, we performed intracerebral inoculation of vCJD prions to humanized knock-in mice carrying all possible codon 129 genotypes (129M/M, 129M/V, or 129V/V). 23792955 2013
dbSNP: rs1799990
rs1799990
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0376329
Disease:
New Variant Creutzfeldt-Jakob Disease 		0.030 GeneticVariation BEFREE So far, all clinical cases of new variant Creutzfeldt-Jakob disease (vCJD), thought to result from the Bovine Spongiform Encephalopathy (BSE) prion agent, have shown Methionine-Methionine (M/M) homozygosity at the M129V polymorphism of the PRNP gene. 19495414 2009
dbSNP: rs1799990
rs1799990
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0376329
Disease:
New Variant Creutzfeldt-Jakob Disease 		0.030 GeneticVariation BEFREE Surprisingly, we succeeded in the transmission of vCJD prions to humanized knock-in mice not only with codon 129 Met/Met but also with codon 129 Met/Val. 16480953 2006