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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:glucosephosphate dehydrogenase deficiency
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Accession:DOID:2862 term browser browse the term
Definition:A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). (DO)
Synonyms:exact_synonym: G6PD Deficiency;   G6PD deficiencies;   GPD Deficiencies;   GPD deficiency;   Glucose 6 Phosphate Dehydrogenase Deficiency;   Glucose-6-Phosphate Dehydrogenase Deficiencies;   Glucosephosphate Dehydrogenase Deficiencies;   deficiency of G-6PD;   deficiency of glucose 6 phosphate dehydrogenase;   hemolytic anemia due to G6PD deficiency
 related_synonym: G6PD IOWA;   G6PD IOWA CITY;   G6PD SPRINGFIELD;   G6PD WALTER REED
 primary_id: MESH:D005955
 xref: GARD:6520;   NCI:C98933
For additional species annotation, visit the Alliance of Genome Resources.


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glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency		 CTD
ClinVar		 PMID:5448 PMID:16832 PMID:472761 PMID:848857 PMID:1303173 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ifng interferon gamma ISO
ISS		 DNA:SNP: :874A>T (human) MouseDO
RGD		 PMID:15718915 RGD:11049178 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:28492532 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 no_association ISO
ISS		 DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)		 MouseDO
RGD		 PMID:15718915 PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 ISO
ISS		 DNA:SNP:promoter:-174G>C (human) MouseDO
RGD		 PMID:15718915 RGD:11049178 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES		 CTD
ClinVar
OMIM		 PMID:5448 PMID:16832 PMID:848857 PMID:1303173 PMID:1303182 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: Favism, susceptibility to ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:28492532 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      congenital hemolytic anemia 204
        glucosephosphate dehydrogenase deficiency 7
          favism 3
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Hemic and Lymphatic Diseases 3296
        hematopoietic system disease 2834
          anemia 666
            normocytic anemia 251
              hemolytic anemia 251
                congenital hemolytic anemia 204
                  glucosephosphate dehydrogenase deficiency 7
                    favism 3
paths to the root