PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Fatal Familial Insomnia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 CausalMutation disease CLINVAR
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease CTD_human
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE FFI is linked to a missense mutation at codon 178 of the prion protein gene, PRNP, coupled with the presence of the codon methionine at position 129, the locus of a methionine-valine polymorphism. 10389103 1999
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is linked to a mutation at codon 178 (C178) of the prion protein gene (PRNP). 11595148 2001
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. 1347910 1992
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. 1439789 1992
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is an autosomal dominant disease linked to a mutation in the prion protein gene. 14732629 2004
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele. 21071944 2010
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease 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
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is a hereditary autosomal-dominant prion disease linked to a mutation of the prion protein gene and characterized by sleep and autonomic abnormalities at onset followed by motor disturbances. 24375448 2014
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene. 26074146 2015
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). 27056979 2016
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal Familial Insomnia (FFI) is a genetic prion disease caused by a point mutation in the prion protein gene (PRNP) characterized by prominent thalamic atrophy, diffuse astrogliosis and moderate deposition of PrP<sup>Sc</sup> in the brain. 28387370 2017
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. 28549449 2017
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is an autosomal dominant disease due to the D178N mutation of PRNP gene coupling with homozygous methionine (Met) at codon 129. 29569252 2018
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is a rare prion disease commonly inherited in an autosomal dominant pattern from a mutation in the PRioN Protein (PRNP) gene. 30012679 2018
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease 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
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). 31122137 2019
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. 8618678 1996
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene. 8780067 1996
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M). 9270595 1997
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the PRNP gene that results in aspartic acid to asparagine substitution, in coupling phase with methionine at position 129. 9521257 1998
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is linked to a mutation at codon 178 of the prion protein gene, coupled with the methionine codon at position 129, the site of a methionine/valine polymorphism. 9669705 1998
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE A broadening spectrum of human prion diseases has now been identified including novel entities such as Fatal Familial Insomnia and variants of CJD and GSS characterised by specific abnormalities in the human prion protein (PrP) gene on chromosome 20. 8841969 1996
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades. gPrDs are caused by mutations in the prion protein gene (PRNP), and have been historically classified based on their clinicopathological features as genetic Jakob-Creutzfeldt disease (gJCD), Gerstmann-Sträussler-Scheinker (GSS), or Fatal Familial Insomnia (FFI). 27943639 2017