PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities. 20005032 2010
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.100 Biomarker phenotype HPO
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.100 Biomarker phenotype HPO
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		0.100 Biomarker phenotype HPO
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.100 Biomarker group HPO
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C2931859
Disease: Acquired CJD
Acquired CJD 		0.030 GeneticVariation disease BEFREE PrP(Sc) isoforms derived from wild-type and mutant PrP are distinct both from each other and from those seen in sporadic and acquired CJD. 16597650 2006
CUI: C2931859
Disease: Acquired CJD
Acquired CJD 		0.030 GeneticVariation disease BEFREE The transmission properties of acquired CJD-MMiK were quite different from those of sporadic CJD with the same PRNP codon 129 genotype. 29329906 2018
CUI: C2931859
Disease: Acquired CJD
Acquired CJD 		0.030 Biomarker disease BEFREE Thus, we propose that the distinctive combination of 129 M/M genotype, kuru plaques, and intermediate type PrP(Sc) , represents a reliable criterion for the identification of acquired CJD cases among presumed sporadic cases. 26669818 2016
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 Biomarker group BEFREE The application of L-PRP in AIDS patients with crural chronic ulcers: A pilot study. 29120855 2018
CUI: C4303462
Disease: Acquired prion disease
Acquired prion disease 		0.010 GeneticVariation disease BEFREE A common human prion-protein-gene (PRNP) polymorphism (encoding either methionine or valine at codon 129) is a strong susceptibility factor for sporadic and acquired prion disease. 11704923 2001
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.010 Biomarker disease BEFREE Cellular prion protein is increased in the plasma and peri-infarcted brain tissue after acute stroke. 17149767 2007
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 Biomarker group BEFREE Here, we identified PrP as being critical for tumor necrosis factor (TNF) α-triggered signaling in a human melanoma cell line, M2, and a pancreatic ductal cell adenocarcinoma cell line, BxPC-3. 28900035 2017
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.010 AlteredExpression disease BEFREE Since overexpression of neuronal proteins gamma-synuclein (γ-Syn) and cellular prion protein (PrP<sup>C</sup>) is always detected in advanced stages of cancer diseases which involve metastasis, this study aimed to investigate whether γ-Syn or PrP<sup>C</sup> overexpression in colorectal adenocarcinoma, LS 174T cells affects angiogenesis of endothelial cells, EA.hy 926 (EA). 29527422 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE Consistently, the expression of PrPc was higher in the highly invasive than in the lowly invasive lung adenocarcinoma cell lines. 31477838 2020
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.060 AlteredExpression disease BEFREE Unlike chondrosarcoma, in glioblastoma, PRP-1 does not have any inhibitory activity on cell proliferation, because in glioblastoma miR-302-367 cluster plays an opposite role, its expression is sufficient to suppress the stemness inducing properties. 26094604 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.060 Biomarker disease BEFREE Thus, PrPc is emerging as a key in maintaining glioblastoma cancer stem cells' (GSCs) phenotype, thereby strongly affecting GBM infiltration and relapse. 31618844 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.060 GeneticVariation disease BEFREE Here we report alternative splicing within exon 2 of the PrP gene (PRNP) in the human glioblastoma cell line T98G. 18445040 2008
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.060 Biomarker disease BEFREE Cellular prion protein controls stem cell-like properties of human glioblastoma tumor-initiating cells. 27229535 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.060 Biomarker disease BEFREE Disruption of prion protein-HOP engagement impairs glioblastoma growth and cognitive decline and improves overall survival. 25151961 2015