Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26574
Gene Symbol: AATF
AATF
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE [<sup>11</sup>C]Deuterodeprenyl ([<sup>11</sup>C]DED) is a tracer that has been used for reactive astrocyte detection in Alzheimer's disease, Creutzfeldt-Jakob disease and amyotrophic lateral sclerosis, among others, with some limitations. 31379487

2019

Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE In either case, dysfunction of this critical toxin-elimination pathway in CJD and AD suggests that selectively increasing cerebrovascular P-gp function could open new therapeutic pathways for the prevention and/or treatment of a number of proteopathic disorders of the central nervous system. 16523342

2006

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 Biomarker BEFREE Expression of the prion protein gene (Prnp) and production of the PrP protein are essential requirements for acquisition and spread of transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease (CJD) in humans. 11679089

2001

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene. 10932276

2000

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE The epidemiological data suggests a very high familial incidence of CJD in this population and a molecular genetic research elucidated that CJD segregates with a point mutation at codon 200 of the PrP gene resulting in the substitution of Lysine for Glutamate. 7858176

1994

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE Among the dozen known mutations in the PrP gene which segregate with the inherited prion diseases, only 2 mutations have been described in Israel so far: the codon 200 mutation in Creutzfeldt-Jakob disease (CJD) affected Libyan Jews, and the codon 102 mutation in 1 Jewish Gerstmann-Straussler-Scheinker (GSS) affected pedigree of German origin. 9531435

1998

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE We have compared the immunomorphological spectrum of the deposition of the disease-associated prion protein (PrP(Sc)) in the cerebral and cerebellar cortex of 32 Creutzfeldt-Jakob disease (CJD) patients with the PrP gene (PRNP) E200K mutation to 45 sporadic CJD and 14 other genetic prion disease cases. 12677444

2003

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE In Creutzfeldt-Jakob disease (CJD), the type (type 1 or 2) of abnormal isoform of the prion protein (PrP(Sc)) in the brain and the genotype at codon 129 of the PrP gene are major determinants of clinicopathological phenotype. 15604452

2005

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 Biomarker BEFREE Sequencing of the patient's Prp gene did not reveal the abnormalities expected in a familial case of CJD. 8978943

1996

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE There was no significant correlation between variables affecting CJD (i.e., disease subtype, prion strain, PRNP genotype) and those defining the AD/PART spectrum (i.e., ABC score, Thal phase, prevalence of CAA and Braak stage), and no difference in the distribution of APOE ε4 and ε2 genotypes among CJD subtypes. 30961668

2019

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V). 8647879

1996

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. 19703264

2010

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE Furthermore, the linkage of mutations within the PRNP gene with phenotypic appearance of Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome points to importance of the PrP gene. 7922109

1994

Entrez Id: 102
Gene Symbol: ADAM10
ADAM10
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE Our data indicate that ADAM10 is unlikely to confer genetic susceptibility to CJD. 12782344

2003

Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 GeneticVariation BEFREE Expression levels and localization of transcription factors cAMP response element binding protein (CREB(1) and CREB(2)) and c-Fos, as well as levels of up-stream mitogen-activated protein kinases/extracellular signal-regulated kinases (ERK-1 and ERK-2) and p38 kinase, were examined in the brains (frontal cortex) of eleven cases with Creutzfeldt-Jakob disease (CJD) and five age-matched controls. 17548164

2007

Entrez Id: 51327
Gene Symbol: AHSP
AHSP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE A test is needed to identify blood donors who are in the preclinical phase of variant Creutzfeldt-Jakob disease (CJD). alpha-Hemoglobin stabilizing protein (AHSP; syn. 18503615

2008

Entrez Id: 199
Gene Symbol: AIF1
AIF1
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE Western blotting confirmed more prominent AIF-1 immunoreactive bands of approximately 50 kDa in four CJD patients compared to three controls. 12887599

2003

Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 GeneticVariation BEFREE Expression levels and localization of transcription factors cAMP response element binding protein (CREB(1) and CREB(2)) and c-Fos, as well as levels of up-stream mitogen-activated protein kinases/extracellular signal-regulated kinases (ERK-1 and ERK-2) and p38 kinase, were examined in the brains (frontal cortex) of eleven cases with Creutzfeldt-Jakob disease (CJD) and five age-matched controls. 17548164

2007

Entrez Id: 213
Gene Symbol: ALB
ALB
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE This observation raises the possibility of transmission of Creutzfeldt-Jakob disease by the graft itself or the associated albumin transfusions and, on a wider extent, by nonneural tissue. 7654078

1995

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE A quantitative Western blot analysis also revealed that MT-I/II protein accumulated in CJD brain with a short disease duration, whereas MT-III in CJD brain with a long disease duration was statistically significantly reduced in comparison to the normal brains. 10940676

2000

Entrez Id: 248
Gene Symbol: ALPI
ALPI
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE This sensitive exogenous strong-stop reaction revealed that CJD infectious fractions contained a series of potential retroviral RNAs including apparent transcripts of endogenous hamster IAP genes. 2108258

1990

Entrez Id: 250
Gene Symbol: ALPP
ALPP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE This sensitive exogenous strong-stop reaction revealed that CJD infectious fractions contained a series of potential retroviral RNAs including apparent transcripts of endogenous hamster IAP genes. 2108258

1990

Entrez Id: 275
Gene Symbol: AMT
AMT
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.010 Biomarker BEFREE Disappointingly, none of the four new 2-AMTs prolonged the lives of mice expressing a chimeric human/mouse PrP transgene inoculated with Creutzfeldt-Jakob disease prions. 26224882

2015

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 Biomarker BEFREE However, the roles of PRNP in AD, and APOE in CJD are controversial. 21799773

2011

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.100 GeneticVariation BEFREE The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. The French Research Group on Epidemiology of Human Spongiform Encephalopathies. 7968026

1994