Source: CTD_human

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 Biomarker CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890

2013
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		1.000 Biomarker CTD_human Two proteins related to neurodegenerative diseases have been described as copper binding proteins: the amyloid precursor protein (APP), a protein related to Alzheimer's disease, and the Prion protein (PrP), related to Creutzfeldt-Jakob disease. 12572668

2003
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		1.000 Biomarker CTD_human [Gerstmann-Sträussler-Scheinker syndrome with a Pro102Leu mutation in the prion protein gene and atypical MRI findings, hyperthermia, tachycardia, and hyperhidrosis]. 10203975

1999
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker CTD_human

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 Biomarker CTD_human

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890

2013
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		0.600 Biomarker CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890

2013
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker CTD_human Copper reduction by copper binding proteins and its relation to neurodegenerative diseases. 12572668

2003
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		0.600 Biomarker CTD_human Copper reduction by copper binding proteins and its relation to neurodegenerative diseases. 12572668

2003
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C1847650
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		0.600 Biomarker CTD_human

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0036457
Disease: Scrapie
Scrapie 		0.550 Biomarker CTD_human The aim of this study is to investigate the profile of ovine PrP gene by amino acid polymorphism at codons 136, 141, 154, and 171 for determining the genetic predisposition to the Scrapie disease for the tribal sheep and rams, with different numbers and distribution in Bulgaria. 21533749

2011
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0036457
Disease: Scrapie
Scrapie 		0.550 Biomarker CTD_human The effect of metal imbalances on scrapie neurodegeneration. 19486493

2010
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0036457
Disease: Scrapie
Scrapie 		0.550 Biomarker CTD_human Scrapie infection stimulated Gpc-1 autoprocessing and the generated HS degradation products colocalized with intracellular aggregates of the disease-related scrapie prion protein isoform (PrP(Sc)). 18717736

2008
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0036457
Disease: Scrapie
Scrapie 		0.550 Biomarker CTD_human Oxidative impairment in scrapie-infected mice is associated with brain metals perturbations and altered antioxidant activities. 11701772

2001
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.500 Biomarker CTD_human Prion diseases are caused by the misfolding and aggregation of the prion protein (PrP). 17257012

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.500 Biomarker CTD_human Physiopathologic implications of the structural and functional domains of the prion protein. 17274528

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.500 Biomarker CTD_human Conversion of the normal membrane-bound prion protein (PrP-sen) to its pathological isoform (PrP-res) is a key event in the pathogenesis of transmissible spongiform encephalopathies. 11994310

2002
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.500 Biomarker CTD_human However, the interplay between PrPs (PrP(C), PrP(Sc) and possibly other abnormal species), copper, anti-oxidation activity and pathogenesis of prion diseases remain unclear. 11701772

2001
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022802
Disease: Kuru
Kuru 		0.500 Biomarker CTD_human

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.400 Biomarker CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.390 Biomarker CTD_human Hypoxia induced overexpression of PrP(C) in gastric cancer cell lines. 17387271

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.370 Biomarker CTD_human Downregulation of PrP(C) makes gastric cancer cells more sensitive to hypoxia induced drug sensitivity. 17387271

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.330 Biomarker CTD_human Hypoxia induced overexpression of PrP(C) in gastric cancer cell lines. 17387271

2007
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.330 Biomarker CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785

2007