SPRN, shadow of prion protein, 503542

N. diseases: 7; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.030 GeneticVariation disease BEFREE In addition, genetic susceptibility of the SPRN gene has been reported in variant Creutzfeldt-Jakob disease (CJD), bovine spongiform encephalopathy (BSE) and scrapie. 31649311 2019
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.030 GeneticVariation disease BEFREE In human prion disease an SPRN signal peptide polymorphism is associated with risk for sporadic Creutzfeldt-Jakob Disease (CJD), while two patients with early-onset variant CJD carried putatively inactive SPRN alleles. 21196244 2011
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.030 GeneticVariation disease LHGDN Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease. 18805828 2008
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease
0.020 GeneticVariation disease BEFREE In addition, genetic susceptibility of the SPRN gene has been reported in variant Creutzfeldt-Jakob disease (CJD), bovine spongiform encephalopathy (BSE) and scrapie. 31649311 2019
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.020 GeneticVariation group BEFREE In human prion disease an SPRN signal peptide polymorphism is associated with risk for sporadic Creutzfeldt-Jakob Disease (CJD), while two patients with early-onset variant CJD carried putatively inactive SPRN alleles. 21196244 2011
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease
0.020 GeneticVariation disease BEFREE In human prion disease an SPRN signal peptide polymorphism is associated with risk for sporadic Creutzfeldt-Jakob Disease (CJD), while two patients with early-onset variant CJD carried putatively inactive SPRN alleles. 21196244 2011
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
0.020 GeneticVariation group BEFREE A genetic screen was carried out of the open reading frame of SPRN by direct sequencing in 522 patients with prion disease, including 107 with variant Creutzfeldt-Jakob disease (vCJD), and 861 healthy controls. 18805828 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 Biomarker disease BEFREE Recently, we proven that [6]-SHO prevents oral squamous cell carcinoma by activating proapoptotic factors in in vitro and in vivo experimental model. 29287195 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Our finding suggested that [6]-SHO is a novel functional agent capable of preventing DMBA induced inflammation and cell proliferation associated tumorigenesis by modulating multiple signalling molecules. 29287195 2018
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic
0.010 GeneticVariation disease BEFREE In human prion disease an SPRN signal peptide polymorphism is associated with risk for sporadic Creutzfeldt-Jakob Disease (CJD), while two patients with early-onset variant CJD carried putatively inactive SPRN alleles. 21196244 2011
New Variant Creutzfeldt-Jakob Disease
0.010 GeneticVariation disease BEFREE A genetic screen was carried out of the open reading frame of SPRN by direct sequencing in 522 patients with prion disease, including 107 with variant Creutzfeldt-Jakob disease (vCJD), and 861 healthy controls. 18805828 2008