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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:Fanconi anemia complementation group G
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Accession:DOID:0111086 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: FANCG
 primary_id: OMIM:614082
 xref: NCI:C125708
For additional species annotation, visit the Alliance of Genome Resources.



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Fanconi anemia complementation group G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by OMIM:614082
ClinVar Annotator: match by term: Fanconi anemia, complementation group G
OMIM
ClinVar
PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      congenital hypoplastic anemia 116
        Fanconi anemia 48
          Fanconi anemia complementation group G 2
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          bone marrow disease 605
            Bone Marrow Failure Disorders 177
              aplastic anemia 165
                congenital hypoplastic anemia 116
                  Fanconi anemia 48
                    Fanconi anemia complementation group G 2
paths to the root