Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE The study population included 477 CJD patients (266 with fCJD,145 with sporadic CJD (sCJD) and 66 patients of Libyan origin but negative family history) from the Israeli registry of CJD conducted since 1954. 31814268

2020

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE To detect disease-associated prion protein (PrP<sup>Sc</sup> ) in the vagus nerve in different forms and molecular subtypes of Creutzfeldt-Jakob disease (CJD), we applied 3 different anti-PrP antibodies. 30801763

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal degenerative encephalopathy caused by a pathologically altered form of the prion protein (PrP). 30856268

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE While the structural characteristics of the disease-related proteinase K-resistant prion protein (resPrP<sup>D</sup>) associated with the CJD group are fairly well established, many features of GSS-associated resPrP<sup>D</sup> are unclear. 31142381

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Although there have been no reports of facial mimicry in patients with Creutzfeldt-Jakob disease (CJD), we encountered a patient with genetic CJD with prion protein gene codon 180 mutation (V180I gCJD) who apparently showed this interesting clinical finding. 31387445

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE We encountered an autopsy case of sporadic Creutzfeldt-Jakob disease (CJD) pathologically classified as MM1+2C-type, where Western blot analysis of prion protein (PrP) mainly showed type-1 scrapie PrP (PrP<sup>Sc</sup> ) but also, partially, mixed type-2 PrP<sup>Sc</sup> . 31062411

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE Misfolding and aggregation of the human prion protein (PrP) cause neurodegenerative transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease. 30935958

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE Misfolded prion protein (PrP<sup>Sc</sup>) is known for its role in fatal neurodegenerative conditions, such as Creutzfeldt-Jakob disease. 31401689

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation. 30266397

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Inherited mutations in the Prion protein (PrP), encoded by the <i>PRNP</i> gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI). 31340582

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE Infectious prions comprising abnormal prion protein, which is produced by structural conversion of normal prion protein, are responsible for transmissible spongiform encephalopathies including Creutzfeldt-Jakob disease in humans. 30753318

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE Misfolding and aggregation of prion protein (PrP) causes neurodegenerative diseases like Creutzfeldt-Jakob disease (CJD) and scrapie. 30792490

2019

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Sporadic Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is generally regarded as a spontaneous neurodegenerative illness, arising either from a spontaneous PRNP somatic mutation or a stochastic PrP structural change. 29887134

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE The prion protein is responsible for pathological states in fatal transmissible spongiform conditions, such as Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. 30320270

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE The introduction of prion RT-QuIC, an ultrasensitive specific assay for the in vivo detection of the abnormal prion protein, has significantly increased the potential for an early and accurate clinical diagnosis of Creutzfeldt-Jakob disease (CJD). 30010123

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE The prion protein (PrP) is a cell surface protein that in disease misfolds and becomes infectious causing Creutzfeldt-Jakob disease in humans, scrapie in sheep, and chronic wasting disease in deer and elk. 30242186

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE Creutzfeldt-Jakob disease (CJD), also known as corticostriate spinal degeneration, subacute spongiform encephalopathy or infectious spongiform encephalopathy, is a type of degenerative disease of the central nervous system caused by prion protein (PrP) infection, which is the most common type of human PrP disease. 29399090

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE Targeted expression of genes coding for proteins specific to astrocytes, oligodendrocytes and myelin was performed in frontal cortex area 8 of Creutzfeldt-Jakob disease methionine/methionine and valine/valine (CJD MM1 and VV2, respectively) compared with controls. 30009661

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Here we review recent advances on the epidemiologic, clinical, and neuropathologic features of cases that phenotypically resemble CJD linked to point and insert mutations of the PRNP gene. 29887139

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE The clinical presentation of CJD is variable, and factors such as prion protein polymorphic variants, prion strain, and other genetic or environmental contributions may affect the disease progression, confounding the appearance or abundance of biomarkers in the CSF. 30149773

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Evaluation of transmission properties is important for the differential diagnosis of a subgroup of acquired Creutzfeldt-Jakob disease (CJD) with methionine homozygosity at polymorphic codon 129 of the PRNP gene, an intermediate type abnormal prion protein (PrP), and kuru plaques, denoted as acquired CJD-MMiK. 29329906

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 AlteredExpression BEFREE Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder that, according to the most well accepted hypothesis (1), is caused by replicating, transmissible, abnormal forms of a host-encoded prion protein (prions). 29518068

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 Biomarker BEFREE The essential role of the cellular prion protein (PrP<sup>C</sup>) in prion disorders such as Creutzfeldt-Jakob disease is well documented. 29151170

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE A popular corollary proposal, that prions arise by spontaneous misfolding of normal prion protein leading to sporadic cases of CJD, BSE, and scrapie, is more problematic and may serve to discourage continued search for environmental sources of exposure to TSE agents. 29887130

2018

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation BEFREE Abbreviations: PRNP: prion protein gene; SNP: single nucleotide polymorphism; CJD: Creutzfeldt-Jakob disease; CWD: chronic wasting disease; TME: transmissible mink encephalopathy; FSE: feline spongiform encephalopathy; MD: molecular dynamics; ER: endoplasmic reticulum; GPI: glycosylphosphatidylinositol; NMR: nuclear magnetic resonance; ORF: open reading frame; GWAS: genome-wide association study; NAPA: non-adaptive prion amplification; HMM: hidden Markov model; NCBI: National Center for Biotechnology Information. 30165784

2018