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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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agammaglobulinemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B-cell linker ISO ClinVar Annotator: match by OMIM:613502
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
OMIM
ClinVar
PMID:10583958 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:260,152,881...260,178,360
Ensembl chr 1:260,153,645...260,178,349
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        lymphoproliferative syndrome 680
          agammaglobulinemia 63
            agammaglobulinemia 4 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Immune & Inflammatory Diseases 3590
        immune system disease 2960
          Immunoproliferative Disorders 689
            lymphoproliferative syndrome 680
              agammaglobulinemia 63
                agammaglobulinemia 4 2
paths to the root