Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Compared to ND, t-PrP concentrations were significantly decreased in sCJD, iCJD and in genetic prion diseases associated with the three most common mutations E200K, V210I (associated with genetic CJD) and D178N-129M (associated with fatal familial insomnia). 30062673

2019
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Fatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at codon 178 of the prion-protein gene leading to a D178N substitution in the protein determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei. 30890351

2019
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Compared to nonprimarily neurodegenerative neurological and psychiatric diseases, NFL was also elevated in genetic prion diseases associated with the E200K, V210I, P102L, and D178N prion protein gene mutations. 29391125

2018
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. 28324299

2017
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Additionally, increased YKL-40 levels were found in genetic prion diseases associated with the PRNP-D178N (Fatal Familial Insomnia) and PRNP-E200K mutations. 29126445

2017
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. 29245265

2017
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study. 25220284

2015
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE The D178N mutation of the prion protein (PrP) results in the hereditary prion disease fatal familial insomnia (FFI). 25281825

2014
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by the D178N mutation of the prion protein gene (PRNP). 23430483

2013
dbSNP: rs74315403
rs74315403
PRNP
0.800 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
PRNP
0.800 GeneticVariation BEFREE Phenotypic variability in familial prion diseases due to the D178N mutation. 16227536

2005
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Fatal familial insomnia (FFI) is a prion disease exhibiting the PRNP D178N/129M genotype. 15311348

2004
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Familial fatal insomnia (FFI)--a hereditary prion disease caused by a mutation at codon 178 of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein--and its sporadic form, sporadic fatal insomnia (SFI), have similar disease phenotypes. 12849238

2003
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events. 12205650

2002
dbSNP: rs74315403
rs74315403
PRNP
A 0.800 CausalMutation CLINVAR