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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;   Familial Creutzfeldt-Jakob Diseases;   New Variant Creutzfeldt Jakob Disease;   Transmissible virus dementia;   V CJD (variant Creutzfeldt Jakob disease);   familial Creutzfeldt Jakob disease;   subacute spongiform encephalopathies;   subacute spongiform encephalopathy
 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;   RDO:0004437
 alt_id: OMIM:123400
 xref: 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 1:238,222,689...238,264,381
Ensembl chr 1:238,222,521...238,264,330
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Cped1 cadherin-like and PC-esterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:49,055,988...49,333,729
Ensembl chr 4:49,056,010...49,333,304
JBrowse link
G Ctss cathepsin S ISO RGD PMID:12368333 RGD:5686913 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Galc galactosylceramidase ISO mRNA:decreased expression:frontal cortex (human) RGD PMID:30009661 RGD:38599170 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Hist2h4a histone cluster 2 H4 family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:170,800,539...170,800,979
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr 2:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:brain: RGD PMID:8790403 RGD:10045948 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Klrc2 killer cell lectin like receptor C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:163,433,993...163,445,136
Ensembl chr 4:163,416,351...163,445,302
JBrowse link
G Krt73 keratin 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 7:143,399,878...143,408,316
Ensembl chr 7:143,399,808...143,408,277
JBrowse link
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239 RGD:36947868 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
G Msl3l2 male-specific lethal 3-like 2 (Drosophila) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr20:37,580,002...37,590,015
Ensembl chr20:37,587,687...37,589,198
JBrowse link
G Prnp prion protein ISO DNA:mutation
ClinVar Annotator: match by term: Jakob-Creutzfeldt disease
ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2253724 PMID:2378641 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8909447 PMID:9279329 PMID:9482303 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:12451207 PMID:12572668 PMID:12601712 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15753435 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23349890 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:26268049 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530 PMID:29887139, PMID:1684755 RGD:1599946 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:macrophage, endothelial cell RGD PMID:12663931 RGD:5688237 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:neuron RGD PMID:12663931 RGD:5688237 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO OMIM NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:20855493 RGD:5508781 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebral spinal fluid: RGD PMID:18625222 RGD:13506723 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:10842016 RGD:1581434 NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
JBrowse link
Creutzfeldt-Jakob Disease, Sporadic 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 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Diseases of the Aged 1272
      dementia 701
        Creutzfeldt-Jakob disease 23
          Acquired CJD 0
          Creutzfeldt-Jakob Disease, Heidenhain Variant 0
          Creutzfeldt-Jakob Disease, Sporadic 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              cognitive disorder 1934
                dementia 701
                  Creutzfeldt-Jakob disease 23
                    Acquired CJD 0
                    Creutzfeldt-Jakob Disease, Heidenhain Variant 0
                    Creutzfeldt-Jakob Disease, Sporadic 2
paths to the root