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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:prion disease
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Accession:DOID:649 term browser browse the term
Definition:A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with PRIONS. These diseases are characterized by conversion of a normal protein to a prion configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these incorrectly as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
Synonyms:exact_synonym: Prion Induced Disorder;   Prion Protein Disease;   Prion Protein Diseases;   Prion disease pathway;   Prion-Associated Disorders;   Prion-Induced Disorders;   Spongiform Encephalopathy;   prion diseases
 narrow_synonym: GENETIC PRION DISEASE;   Genetic Prion Diseases;   Inherited Human Transmissible Spongiform Encephalopathies;   Transmissible Dementia;   Transmissible Dementias;   Transmissible Spongiform Encephalopathies;   Transmissible Spongiform Encephalopathy
 related_synonym: Prion Disease, Susceptibility To
 primary_id: MESH:D017096;   RDO:0005908
 xref: ICD10CM:A81.9;   NCI:C128346
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
prion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:15618403 RGD:13782157 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl3 BCL3, transcription coactivator severity ISO RGD PMID:17573907 RGD:40902830 NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse) RGD PMID:23392676 RGD:10401270 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP protein:increased expression:astrocyte RGD PMID:11870871 RGD:4892001 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:microglial cell RGD PMID:11870871 RGD:4892001 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:17573907 RGD:40902830 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO RGD PMID:17573907 RGD:40902830 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
G Notch1 notch receptor 1 ISO RGD PMID:15640354 RGD:13782159 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:hippocampus RGD PMID:19459212 RGD:6483816 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO mRNA:increased expression:hippocampus RGD PMID:19459212 RGD:6483816 NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Ppia peptidylprolyl isomerase A exacerbates ISO RGD PMID:31181281 RGD:150383343 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prion disease, susceptibility to
ClinVar Annotator: match by term: Genetic prion disease
CTD
ClinVar
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Sod1 superoxide dismutase 1 disease_progression ISO DNA:SNP:intron RGD PMID:23349894 PMID:18559949 RGD:13782160, RGD:13782161 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
Creutzfeldt-Jakob disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
JBrowse link
G Cped1 cadherin-like and PC-esterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:50,516,712...50,789,651
Ensembl chr 4:50,516,819...50,788,674
JBrowse link
G Ctss cathepsin S ISO RGD PMID:12368333 RGD:5686913 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Galc galactosylceramidase ISO mRNA:decreased expression:frontal cortex (human) RGD PMID:30009661 RGD:38599170 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Hist2h4a histone cluster 2 H4 family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890
G Il1a interleukin 1 alpha ISO mRNA:increased expression:brain: RGD PMID:8790403 RGD:10045948 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Klrc2 killer cell lectin like receptor C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:163,122,700...163,133,843
Ensembl chr 4:163,122,704...163,133,843
JBrowse link
G Krt73 keratin 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 7:132,927,812...132,936,323
Ensembl chr 7:132,928,256...132,936,280
JBrowse link
G Mapt microtubule-associated protein tau ISO protein:increased expression:CSF (human)
protein:increased expression:CSF, serum (human)
RGD PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804 RGD:127284880, RGD:127284889, RGD:127284887, RGD:127284881 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Msl3l2 male-specific lethal 3-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr20:35,468,877...35,477,037
Ensembl chr20:35,468,888...35,477,757
JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human)
protein:increased expression:CSF, serum (human)
RGD PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804 RGD:127284880, RGD:127284889, RGD:127284887, RGD:127284881 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Prnp prion protein ISO DNA:mutation
ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial
ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease
ClinVar Annotator: match by term: Jakob-Creutzfeldt disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1677164 More... RGD:1599946 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:macrophage, endothelial cell RGD PMID:12663931 RGD:5688237 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:neuron RGD PMID:12663931 RGD:5688237 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO OMIM NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum (human) RGD PMID:20855493 PMID:27929120 RGD:5508781, RGD:127284887 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Serpina3m serpin family A member 3M disease_progression ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239 PMID:29142239 RGD:36947868, RGD:36947868 NCBI chr 6:123,064,796...123,072,087
Ensembl chr 6:123,064,796...123,072,066
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239 RGD:36947868 NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebral spinal fluid: RGD PMID:18625222 RGD:13506723 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:10842016 RGD:1581434 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO protein:increased expression:CSF (human) RGD PMID:31541342 PMID:27929120 PMID:30309804 RGD:127284880, RGD:127284887, RGD:127284881 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir146a microRNA 146a susceptibility ISO miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
Gerstmann-Straussler-Scheinker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 PMID:1674033 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 OMIM
ClinVar
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
kuru term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein susceptibility ISO ClinVar Annotator: match by term: Kuru, protection against
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16391566 PMID:26061765 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
scrapie term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:27921253 RGD:13782156 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Casp3 caspase 3 ISO RGD PMID:27921253 RGD:13782156 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp9 caspase 9 ISO RGD PMID:27921253 RGD:13782156 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO RGD PMID:22787236 RGD:13782158 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:18396336 RGD:5688145 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Cd209a CD209a antigen ISO RGD PMID:27522473 RGD:40400758 NCBI chr12:1,822,663...1,828,246
Ensembl chr12:1,822,663...1,828,246
JBrowse link
G Cr2 complement C3d receptor 2 ISO RGD PMID:29202042 RGD:127285805 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Jak2 Janus kinase 2 ISO protein:increased expression:brain RGD PMID:17897356 RGD:6483034 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Mir146a microRNA 146a ISO miRNA:increased expression:brain, hippocampus, cerebellum (mouse) RGD PMID:22363497 RGD:126925151 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Negr1 neuronal growth regulator 1 ISO RGD PMID:29087046 RGD:40886276 NCBI chr 2:245,624,460...246,359,605
Ensembl chr 2:245,624,435...246,356,730
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO protein:increased expression:brain: RGD PMID:15772339 RGD:9999196 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
JBrowse link
G Prnp prion protein onset ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11701772 PMID:18717736 PMID:19486493 PMID:21533749 PMID:29157304 RGD:15045596 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO RGD PMID:16730863 RGD:38676483 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701772 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16412998 RGD:1581331 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased expression:brain RGD PMID:17897356 RGD:6483034 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:brain, nucleus RGD PMID:17897356 RGD:6483034 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
Spongiform Encephalopathy with Neuropsychiatric Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features OMIM
ClinVar
PMID:1672296 PMID:1674033 PMID:2180366 PMID:2190844 PMID:2564168 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
Sporadic Creutzfeldt-Jakob Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:19151623 RGD:10395347 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916
JBrowse link
G Mapt microtubule-associated protein tau ISO protein:increased expression:CSF, serum (human) RGD PMID:27929120 RGD:127284887 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain severity ISO protein:increased expression:CSF, serum (human)
protein:increased expression:CSF (human)
RGD PMID:27929120 PMID:29391125 RGD:127284887, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum (human) RGD PMID:27929120 RGD:127284887 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease by infectious agent 1933
      Bacterial Infections and Mycoses 798
        Central Nervous System Infections 218
          prion disease 55
            Cerebral Amyloidosis with Spongiform Encephalopathy + 1
            Creutzfeldt-Jakob disease + 27
            Huntington's disease-like 1 1
            Spongiform Encephalopathy with Neuropsychiatric Features 1
            chronic wasting disease 0
            fatal familial insomnia 3
            kuru 1
            scrapie 20
            variant Creutzfeldt-Jakob disease + 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          neurodegenerative disease 3536
            prion disease 55
              Cerebral Amyloidosis with Spongiform Encephalopathy + 1
              Creutzfeldt-Jakob disease + 27
              Huntington's disease-like 1 1
              Spongiform Encephalopathy with Neuropsychiatric Features 1
              chronic wasting disease 0
              fatal familial insomnia 3
              kuru 1
              scrapie 20
              variant Creutzfeldt-Jakob disease + 0
paths to the root