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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 15B
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Accession:DOID:9001633 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Functional studies show impaired differentiation and activation of immune cells
Synonyms:exact_synonym: IMD15B
 primary_id: OMIM:615592
 alt_id: RDO:9001006
For additional species annotation, visit the Alliance of Genome Resources.


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Immunodeficiency 15B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit JBrowse link 16 68,860,018 68,866,718 RGD:8554872
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit JBrowse link 16 68,876,442 68,913,628 RGD:8554872
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 JBrowse link 16 74,260,551 74,264,142 RGD:8554872
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 16 70,876,557 70,909,443 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 74,177,233 74,230,809 RGD:7240710
RGD:8554872
G Polb DNA polymerase beta JBrowse link 16 74,237,001 74,260,272 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:8554872
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:8554872
G Smim19 small integral membrane protein 19 JBrowse link 16 74,408,085 74,422,070 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872
G Vdac3 voltage-dependent anion channel 3 JBrowse link 16 74,292,466 74,308,910 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      primary immunodeficiency disease 983
        IMMUNODEFICIENCY 15 14
          Immunodeficiency 15B 14
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Immune & Inflammatory Diseases 3138
        immune system disease 2553
          primary immunodeficiency disease 983
            IMMUNODEFICIENCY 15 14
              Immunodeficiency 15B 14
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.