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ONTOLOGY REPORT - ANNOTATIONS


Term:agammaglobulinemia 4
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Accession:DOID:0060027 term browser browse the term
Definition:A hypogammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation
Synonyms:exact_synonym: AGM4;   B cell linker protein deficiency;   BLNK deficiency;   autosomal recessive agammaglobulinemia 4;   autosomal recessive agammaglobulinemia due to BLNK defect
 primary_id: OMIM:613502
 alt_id: RDO:0009901
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agammaglobulinemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B-cell linker JBrowse link 1 260,187,023 260,254,490 RGD:7240710
RGD:8554872
G Zfp518a zinc finger protein 518A JBrowse link 1 260,152,881 260,178,360 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        agammaglobulinemia 55
          agammaglobulinemia 4 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Immune & Inflammatory Diseases 3092
        immune system disease 2518
          lymphatic system disease 874
            lymphoproliferative syndrome 605
              agammaglobulinemia 55
                agammaglobulinemia 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.