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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:CD8 Deficiency, Familial
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Accession:DOID:9006804 term browser browse the term
Synonyms:primary_id: MESH:C563824;   RDO:0012985
 alt_id: OMIM:608957


show annotations for term's descendants           Sort by:
CD8 Deficiency, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd8a CD8 subunit alpha ISO ClinVar Annotator: match by term: Cd8 deficiency, familial
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11435463 PMID:16199547 PMID:17576681 PMID:17658607 More... NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Chmp3 charged multivesicular body protein 3 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,520,820...71,559,593
Ensembl chr 6:71,520,781...71,559,593 		JBrowse link
G Immt inner membrane protein, mitochondrial ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,806,200...71,852,250
Ensembl chr 6:71,808,315...71,854,372 		JBrowse link
G Kdm3a lysine (K)-specific demethylase 3A ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974 		JBrowse link
G Mrpl35 mitochondrial ribosomal protein L35 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,789,981...71,800,768
Ensembl chr 6:71,789,981...71,803,953 		JBrowse link
G Polr1a polymerase (RNA) I polypeptide A ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,886,037...71,956,419
Ensembl chr 6:71,886,037...71,961,919 		JBrowse link
G Ptcd3 pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,857,622...71,886,080
Ensembl chr 6:71,857,622...71,885,734 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694 		JBrowse link
G Rmnd5a required for meiotic nuclear division 5 homolog A ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,365,623...71,417,491
Ensembl chr 6:71,365,618...71,417,621 		JBrowse link
G Rnf103 ring finger protein 103 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:71,470,828...71,487,864
Ensembl chr 6:71,470,878...71,487,865 		JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 6:72,074,555...72,131,555
Ensembl chr 6:72,074,576...72,131,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        CD8 Deficiency, Familial 11
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          primary immunodeficiency disease 3856
            CD8 Deficiency, Familial 11
paths to the root