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ONTOLOGY REPORT - ANNOTATIONS


Term:coronin-1A deficiency
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Accession:DOID:0060019 term browser browse the term
Definition:A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)
Synonyms:exact_synonym: IMD8;   Immunodeficiency 8
 related_synonym: T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS
 primary_id: OMIM:615401
 alt_id: DOID:9005234;   RDO:9000935;   RDO:9002913
For additional species annotation, visit the Alliance of Genome Resources.


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coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:7240710
RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Rhoh ras homolog family member H JBrowse link 14 43,961,756 43,992,587 RGD:8554872
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 51
            coronin-1A deficiency 8
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            X-linked monogenic disease 857
              combined T cell and B cell immunodeficiency 66
                severe combined immunodeficiency 51
                  coronin-1A deficiency 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.