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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:Creutzfeldt-Jakob disease
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Accession:DOID:11949 term browser browse the term
Definition:A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))
Synonyms:exact_synonym: CJD;   Creutzfeldt Jacob Disease;   Creutzfeldt Jacob syndrome;   Creutzfeldt-Jakob syndrome;   New Variant Creutzfeldt Jakob Disease;   V CJD (variant Creutzfeldt Jakob disease);   familial Creutzfeldt Jakob disease;   familial Creutzfeldt-Jakob diseases;   subacute spongiform encephalopathies;   subacute spongiform encephalopathy;   transmissible virus dementia
 narrow_synonym: CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC;   CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT;   CREUTZFELDT-JAKOB DISEASE, VARIANT;   sCJD;   vCJD
 related_synonym: protection against Creutzfeldt-Jakob disease
 primary_id: MESH:D007562
 alt_id: MIM:123400
 xref: EFO:0004226;   GARD:6956;   ICD10CM:A81.0;   ICD9CM:046.1;   NCI:C26802
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:227,426,939...227,579,497
Ensembl chr 1:227,427,070...227,579,500 		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 chr13:85,462,840...85,640,033 		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 4:51,482,545...51,755,442 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:12368333 RGD:5686913 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440 		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 6:123,182,643...123,245,578 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:brain: RGD PMID:8790403 RGD:10045948 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Klrc2 killer cell lectin like receptor C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:164,808,722...164,819,865
Ensembl chr 4:164,808,722...164,819,865 		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 7:134,806,517...134,815,028 		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 chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		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 chr20:36,011,380...36,019,530 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		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 chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Prnp prion protein ISO
ISS 		DNA:mutation
ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial
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 3:139,630,144...139,658,436 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:macrophage, endothelial cell RGD PMID:12663931 RGD:5688237 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:neuron RGD PMID:12663931 RGD:5688237 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		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 chr20:12,372,348...12,381,081 		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 6:128,829,569...128,836,839 		JBrowse link
G Serpina3n serpin family 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 6:129,088,398...129,097,415 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebral spinal fluid: RGD PMID:18625222 RGD:13506723 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Snora16b small nucleolar RNA, H/ACA box 16B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 8:2,368,882...2,369,014
Ensembl chr 8:10,653,778...10,653,910 		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 chr14:32,400,603...32,415,117 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:10842016 RGD:1581434 NCBI chr12:27,278,517...27,306,547
Ensembl chr12:27,278,517...27,306,471 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,983,387...31,006,838 		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 chr12:26,380,816...26,409,465 		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 6:21,952,631...21,977,116 		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 2:169,646,898...169,696,987 		JBrowse link
G Mapt microtubule-associated protein tau ISO protein:increased expression:CSF, serum (human) RGD PMID:27929120 RGD:127284887 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		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 chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		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 chr20:12,372,348...12,381,081 		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 chr12:26,380,816...26,409,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Diseases of the Aged 1480
      dementia 878
        Creutzfeldt-Jakob disease 27
          Acquired CJD 0
          Creutzfeldt-Jakob Disease, Heidenhain Variant 0
          Sporadic Creutzfeldt-Jakob Disease 7
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              cognitive disorder 2320
                dementia 878
                  Creutzfeldt-Jakob disease 27
                    Acquired CJD 0
                    Creutzfeldt-Jakob Disease, Heidenhain Variant 0
                    Sporadic Creutzfeldt-Jakob Disease 7
paths to the root