Aliases & Classifications for Genetic Prion Diseases

MalaCards integrated aliases for Genetic Prion Diseases:

Name: Genetic Prion Diseases 24 29 6
Transmissible Spongiform Encephalopathies 24 54 3
Tses 24 3
Prion Diseases 73

Characteristics:

GeneReviews:

24
Penetrance The prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovács et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovács et al 2005]...

Summaries for Genetic Prion Diseases

NINDS : 54 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope. Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as "mad cow disease." Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory. Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short forproteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein. Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs. Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.

MalaCards based summary : Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to dementia and prion disease. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways/superpathways is Neuroscience. The drugs Quinacrine and Coal tar have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cerebellum.

CDC : 3 For Questions or Comments on Prions E-mail Us.

GeneReviews: NBK1229

Related Diseases for Genetic Prion Diseases

Diseases related to Genetic Prion Diseases via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 dementia 28.0 APOE PRNP
2 prion disease 10.4
3 diarrhea 9.7
4 cerebritis 9.7
5 scrapie 9.7
6 peripheral nervous system disease 9.7
7 neuropathy 9.7
8 cerebral amyloid angiopathy, cst3-related 9.6 APOE PRNP
9 aphasia 9.6 APOE PRNP
10 dementia, lewy body 9.5 APOE PRNP
11 creutzfeldt-jakob disease 9.5 APOE PRNP
12 central nervous system disease 9.4 APOE PRNP
13 nervous system disease 9.3 APOE PRNP
14 frontotemporal dementia 9.2 APOE PRNP

Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to Genetic Prion Diseases

Symptoms & Phenotypes for Genetic Prion Diseases

Drugs & Therapeutics for Genetic Prion Diseases

Drugs for Genetic Prion Diseases (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Quinacrine Approved, Investigational Phase 2,Not Applicable 83-89-6 237
2
Coal tar Approved Phase 2 8007-45-2
3 Anthelmintics Phase 2,Not Applicable
4 Anti-Infective Agents Phase 2,Not Applicable
5 Antiparasitic Agents Phase 2,Not Applicable
6 Antiprotozoal Agents Phase 2,Not Applicable
7 Antimalarials Phase 2,Not Applicable
8
Thrombin Approved, Investigational
9 Antibodies
10 Immunoglobulins
11 Coagulants
12 Hemostatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2 Quinacrine;Placebo
2 Study of Ruxolitinib in the Treatment of Cachexia in Patients With Tumor-Associated Chronic Wasting Diseases. Active, not recruiting NCT02072057 Phase 2 Ruxolitinib
3 Notification of Donors With Positive Microbiology Markers Unknown status NCT01050881
4 PRION-1: Quinacrine for Human Prion Disease Completed NCT00104663 Not Applicable Quinacrine
5 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Recruiting NCT02837705
6 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
7 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
8 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725

Search NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

Genetic tests related to Genetic Prion Diseases:

# Genetic test Affiliating Genes
1 Genetic Prion Diseases 29

Anatomical Context for Genetic Prion Diseases

MalaCards organs/tissues related to Genetic Prion Diseases:

41
Brain, Testes, Cerebellum

Publications for Genetic Prion Diseases

Articles related to Genetic Prion Diseases:

(show top 50) (show all 88)
# Title Authors Year
1
Autologous neural progenitor cell transplantation into newborn mice modeling for E200K genetic prion disease delays disease progression. ( 29494865 )
2018
2
Cross-seeding of prions by aggregated I+-synuclein leads to transmissible spongiform encephalopathy. ( 28797122 )
2017
3
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
4
PrP-C1 fragment in cattle brains reveals features of the transmissible spongiform encephalopathy associated PrP<sup>sc</sup>. ( 28119056 )
2017
5
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
6
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
7
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. ( 26193641 )
2015
8
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. ( 26488179 )
2015
9
Clinical findings and diagnosis in genetic prion diseases in Germany. ( 26076917 )
2015
10
Further characterisation of transmissible spongiform encephalopathy phenotypes after inoculation of cattle with two temporally separated sources of sheep scrapie from Great Britain. ( 26205536 )
2015
11
Ascertainment bias causes false signal of anticipation in genetic prion disease. ( 25279981 )
2014
12
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. ( 24686303 )
2014
13
First Demonstration of Transmissible Spongiform Encephalopathy-associated Prion Protein (PrPTSE) in Extracellular Vesicles from Plasma of Mice Infected with Mouse-adapted Variant Creutzfeldt-Jakob Disease by in Vitro Amplification. ( 25157106 )
2014
14
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. ( 25220284 )
2014
15
Genetic prion disease: no role for the immune system in disease pathogenesis? ( 25239861 )
2014
16
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. ( 24903967 )
2014
17
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. ( 23555862 )
2013
18
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. ( 23922744 )
2013
19
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. ( 23808898 )
2013
20
Dissociation between transmissible spongiform encephalopathy (TSE) infectivity and proteinase K-resistant PrP(Sc) levels in peripheral tissue from a murine transgenic model of TSE disease. ( 23487470 )
2013
21
Use of murine bioassay to resolve ovine transmissible spongiform encephalopathy cases showing a bovine spongiform encephalopathy molecular profile. ( 21919992 )
2012
22
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. ( 22198568 )
2012
23
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. ( 22874564 )
2012
24
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. ( 21293298 )
2011
25
Genetic prion disease-associated myelodysplasia and SIADH in siblings. ( 22097952 )
2011
26
Differentiation of ruminant transmissible spongiform encephalopathy isolate types, including bovine spongiform encephalopathy and CH1641 scrapie. ( 20943889 )
2011
27
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. ( 21232818 )
2011
28
Experimental interspecies transmission studies of the transmissible spongiform encephalopathies to cattle: comparison to bovine spongiform encephalopathy in cattle. ( 21908269 )
2011
29
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan. ( 19696976 )
2010
30
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. ( 19444528 )
2009
31
Reflections on a half-century in the field of transmissible spongiform encephalopathy. ( 19618333 )
2009
32
High-resolution differentiation of transmissible spongiform encephalopathy strains by quantitative N-terminal amino acid profiling (N-TAAP) of PK-digested abnormal prion protein. ( 19053160 )
2009
33
Surveillance for transmissible spongiform encephalopathy in scavengers of white-tailed deer carcasses in the chronic wasting disease area of Wisconsin. ( 19697235 )
2009
34
Rapid typing of transmissible spongiform encephalopathy strains with differential ELISA. ( 18394279 )
2008
35
PrP genetics in ruminant transmissible spongiform encephalopathies. ( 18284908 )
2008
36
The early history of the transmissible spongiform encephalopathies exemplified by scrapie. ( 18951958 )
2008
37
Transmissible spongiform encephalopathy strain-associated diversity of N-terminal proteinase K cleavage sites of PrP(Sc) from scrapie-infected and bovine spongiform encephalopathy-infected mice. ( 18484354 )
2008
38
ApoE distribution and family history in genetic prion diseases in Germany. ( 18157657 )
2008
39
Spiroplasma spp. from transmissible spongiform encephalopathy brains or ticks induce spongiform encephalopathy in ruminants. ( 17761489 )
2007
40
Transmissible spongiform encephalopathy agent clearance by the immunoaffinity and anion-exchange chromatography steps of the ReFacto manufacturing process. ( 17880447 )
2007
41
Polymorphisms of the prion gene promoter region that influence classical bovine spongiform encephalopathy susceptibility are not applicable to other transmissible spongiform encephalopathies in cattle. ( 17709775 )
2007
42
Profiling the culprit in Alzheimer's disease (AD): bacterial toxic proteins - Will they be significant for the aetio-pathogenesis of AD and the transmissible spongiform encephalopathies? ( 17337124 )
2007
43
Is vaccination against transmissible spongiform encephalopathy feasible? ( 17633306 )
2007
44
Atypical scrapie in a Swiss goat and implications for transmissible spongiform encephalopathy surveillance. ( 17459826 )
2007
45
A potential blood test for transmissible spongiform encephalopathies by detecting carbohydrate-dependent aggregates of PrPres-like proteins in scrapie-Infected hamster plasma. ( 18094541 )
2007
46
Molecular aspects of disease pathogenesis in the transmissible spongiform encephalopathies. ( 16691009 )
2006
47
Immunohistochemical features of PrP(d) accumulation in natural and experimental goat transmissible spongiform encephalopathies. ( 16542672 )
2006
48
High incidence of genetic human transmissible spongiform encephalopathies in Italy. ( 15883322 )
2005
49
Genetic prion disease: the EUROCJD experience. ( 16187142 )
2005
50
Transmissible spongiform encephalopathy risk assessment: the UK experience. ( 16022687 )
2005

Variations for Genetic Prion Diseases

ClinVar genetic disease variations for Genetic Prion Diseases:

6
(show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh38 Chromosome 20, 4699380: 4699403
3 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
4 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh38 Chromosome 20, 4699525: 4699525
5 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
6 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh38 Chromosome 20, 4699570: 4699570
7 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
8 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh38 Chromosome 20, 4699818: 4699818
9 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh37 Chromosome 20, 4680398: 4680398
10 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh38 Chromosome 20, 4699752: 4699752
11 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
12 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh38 Chromosome 20, 4699813: 4699813
13 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
14 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh38 Chromosome 20, 4699870: 4699870
15 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
16 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh38 Chromosome 20, 4699848: 4699848
17 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
18 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh38 Chromosome 20, 4699534: 4699534
19 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
20 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs74315408 GRCh38 Chromosome 20, 4699758: 4699758
21 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh37 Chromosome 20, 4680413: 4680413
22 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh38 Chromosome 20, 4699767: 4699767
23 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
24 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh38 Chromosome 20, 4699780: 4699780
25 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
26 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh38 Chromosome 20, 4699533: 4699533
27 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
28 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh38 Chromosome 20, 4699533: 4699533
29 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
30 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh38 Chromosome 20, 4699655: 4699655
31 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344
32 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh38 Chromosome 20, 4699698: 4699698
33 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh38 Chromosome 20, 4699448: 4699448
34 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh37 Chromosome 20, 4680094: 4680094
35 PRNP NM_000311.4(PRNP): c.-22C> G single nucleotide variant Uncertain significance rs886056741 GRCh38 Chromosome 20, 4686501: 4686501
36 PRNP NM_000311.4(PRNP): c.-22C> G single nucleotide variant Uncertain significance rs886056741 GRCh37 Chromosome 20, 4667147: 4667147
37 PRNP NM_000311.4(PRNP): c.-18C> T single nucleotide variant Likely benign rs537449340 GRCh38 Chromosome 20, 4686505: 4686505
38 PRNP NM_000311.4(PRNP): c.-18C> T single nucleotide variant Likely benign rs537449340 GRCh37 Chromosome 20, 4667151: 4667151
39 PRNP NM_000311.4(PRNP): c.372C> G (p.Gly124=) single nucleotide variant Likely benign rs201423990 GRCh38 Chromosome 20, 4699592: 4699592
40 PRNP NM_000311.4(PRNP): c.372C> G (p.Gly124=) single nucleotide variant Likely benign rs201423990 GRCh37 Chromosome 20, 4680238: 4680238
41 PRNP NM_000311.4(PRNP): c.*994C> T single nucleotide variant Uncertain significance rs886056746 GRCh37 Chromosome 20, 4681622: 4681622
42 PRNP NM_000311.4(PRNP): c.*994C> T single nucleotide variant Uncertain significance rs886056746 GRCh38 Chromosome 20, 4700976: 4700976
43 PRNP NM_000311.4(PRNP): c.*1063G> A single nucleotide variant Likely benign rs58499385 GRCh37 Chromosome 20, 4681691: 4681691
44 PRNP NM_000311.4(PRNP): c.*1063G> A single nucleotide variant Likely benign rs58499385 GRCh38 Chromosome 20, 4701045: 4701045
45 PRNP NM_000311.4(PRNP): c.*1588C> T single nucleotide variant Uncertain significance rs886056750 GRCh38 Chromosome 20, 4701570: 4701570
46 PRNP NM_000311.4(PRNP): c.*1588C> T single nucleotide variant Uncertain significance rs886056750 GRCh37 Chromosome 20, 4682216: 4682216
47 PRNP NM_000311.4(PRNP): c.-310T> A single nucleotide variant Uncertain significance rs765471807 GRCh38 Chromosome 20, 4686213: 4686213
48 PRNP NM_000311.4(PRNP): c.-310T> A single nucleotide variant Uncertain significance rs765471807 GRCh37 Chromosome 20, 4666859: 4666859
49 PRNP NM_000311.4(PRNP): c.-245C> G single nucleotide variant Benign rs13040327 GRCh38 Chromosome 20, 4686278: 4686278
50 PRNP NM_000311.4(PRNP): c.-245C> G single nucleotide variant Benign rs13040327 GRCh37 Chromosome 20, 4666924: 4666924

Expression for Genetic Prion Diseases

Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for Genetic Prion Diseases

Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 APOE PRNP

GO Terms for Genetic Prion Diseases

Cellular components related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.96 APOE PRNP
2 amyloid-beta complex GO:0106003 8.62 APOE PRNP

Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.26 APOE PRNP
2 long-term memory GO:0007616 9.16 APOE PRNP
3 negative regulation of amyloid-beta formation GO:1902430 8.96 APOE PRNP
4 negative regulation of long-term synaptic potentiation GO:1900272 8.62 APOE PRNP

Molecular functions related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 8.62 APOE PRNP

Sources for Genetic Prion Diseases

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....