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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: MIM: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 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Chmp3 charged multivesicular body protein 3 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,576,453...103,622,566
Ensembl chr 4:103,576,515...103,623,959 		JBrowse link
G Immt inner membrane mitochondrial protein ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109 		JBrowse link
G Kdm3a lysine demethylase 3A ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073 		JBrowse link
G Mrpl35 mitochondrial ribosomal protein L35 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,865,812...103,876,687
Ensembl chr 4:103,865,812...103,880,887 		JBrowse link
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020 		JBrowse link
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		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 4:103,375,846...103,432,890
Ensembl chr 4:103,379,908...103,433,051 		JBrowse link
G Rnf103 ring finger protein 103 ISO ClinVar Annotator: match by term: Cd8 deficiency, familial ClinVar PMID:28492532 NCBI chr 4:103,526,456...103,542,529
Ensembl chr 4:103,526,502...103,555,919 		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 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      primary immunodeficiency disease 4429
        CD8 Deficiency, Familial 11
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5767
        immune system disease 5044
          primary immunodeficiency disease 4429
            CD8 Deficiency, Familial 11
paths to the root