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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: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.


show annotations for term's descendants           Sort by:
 
coronin-1A deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar Annotator: match by OMIM:615401
OMIM
ClinVar
PMID:18836449, PMID:19097825, PMID:23522482, PMID:25073507, PMID:25741868, PMID:28492532 NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary immunodeficiency disease 2348
        combined immunodeficiency 148
          severe combined immunodeficiency 91
            coronin-1A deficiency 9
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            combined immunodeficiency 148
              severe combined immunodeficiency 91
                coronin-1A deficiency 9
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.