rs74315411, PRNP

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
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
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
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
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
CUI: C1847650
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
0.800 CausalMutation CLINVAR
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.710 GeneticVariation BEFREE Loss of glycosylation associated with the T183A mutation in human prion disease. 15558291 2004
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.710 CausalMutation CLINVAR
Familial Dementia
CUI: C0751071
Disease: Familial Dementia
0.010 GeneticVariation BEFREE This mutant is a homolog of the human T183A mutation of PrP(C) that is associated with early onset of familial dementia. 23787697 2014
Spongiform encephalopathy
CUI: C4281802
Disease: Spongiform encephalopathy
0.010 GeneticVariation BEFREE A heterozygous T183A mutation in the prion protein (PrP) gene, PRNP, was identified in a patient with histopathologically confirmed spongiform encephalopathy. 15558291 2004