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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 brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. (DO)
Synonyms:exact_synonym: Prion Induced Disorder;   Prion Protein Disease;   Prion Protein Diseases;   Prion-Associated Disorders;   Prion-Induced Disorders;   prion disease pathway;   prion diseases;   spongiform encephalopathy
 narrow_synonym: Genetic Prion Diseases;   INHERITED PRION DISEASE;   Inherited Human Transmissible Spongiform Encephalopathies;   Transmissible Dementia;   Transmissible Dementias;   Transmissible Spongiform Encephalopathies;   genetic prion disease;   transmissible spongiform encephalopathy
 related_synonym: Prion Disease, Susceptibility To
 primary_id: MESH:D017096
 xref: EFO:0004720;   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 1:80,053,440...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: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy
CTD
ClinVar
PMID:1353341 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 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
Cerebral Amyloidosis with Spongiform Encephalopathy 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: Amyloidosis cerebral with spongiform encephalopathy ClinVar PMID:1353341 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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 2:183,086,437...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 LOC120094448 small nucleolar RNA SNORA16B/SNORA16A family ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 8:2,368,882...2,369,014
Ensembl chr 8:2,368,882...2,369,014
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...35,477,025
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
ISS
DNA:mutation
ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial | ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease
OMIM:123400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1672296 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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD
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 6:123,323,623...123,331,181
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 chr14:32,046,408...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
ISS
ClinVar Annotator: match by term: Fatal familial insomnia
OMIM:600072
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
MouseDO
CTD
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome
CTD
OMIM
ClinVar
PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 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 Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838
JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354
JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926
JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541
JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166
JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330
JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655
JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680
JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630
JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566
JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820
JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517
JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831
JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081
JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008
JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962
JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
CTD
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
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728
JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080
JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550
JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710
JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531
JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066
JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336
JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614
JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125
JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559
JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722
JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
JBrowse link
kuru 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: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
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
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...68,327,380
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 molecule 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
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1353341 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 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 21140
    disease by infectious agent 2211
      Bacterial Infections and Mycoses 1070
        Central Nervous System Infections 293
          prion disease 112
            Cerebral Amyloidosis with Spongiform Encephalopathy + 1
            Creutzfeldt-Jakob disease + 28
            Huntington's disease-like 1 57
            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 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          neurodegenerative disease 4873
            prion disease 112
              Cerebral Amyloidosis with Spongiform Encephalopathy + 1
              Creutzfeldt-Jakob disease + 28
              Huntington's disease-like 1 57
              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