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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 disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.
Synonyms:exact_synonym: G6PD Deficiencies;   G6PD Deficiency;   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
 alt_id: RDO:0002526
 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 ClinVar Annotator: match by synonym: Hemolytic anemia due to 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: G6PD WALTER REED
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5448, PMID:16832, PMID:472761, PMID:848857, PMID:1303173, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999339, PMID:2253938, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2602358, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2895981, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4125296, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4728291, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8447319, PMID:8471773, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9410474, PMID:9427729, PMID:9589612, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:15914531, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19589177, PMID:19594365, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23757202, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)
RGD PMID:15718915, PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
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 MINNESOTA
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6pd a-
ClinVar Annotator: match by term: G6PD MALAGA
ClinVar Annotator: match by term: G6PD AURES
CTD
ClinVar
OMIM
PMID:5448, PMID:16832, PMID:848857, PMID:1303173, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999409, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8241497, PMID:8447319, PMID:8471773, PMID:8490627, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9427729, PMID:9589612, PMID:9674740, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:10782016, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12130518, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19422023, PMID:19589177, PMID:19594365, PMID:19632868, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22906837, PMID:22963789, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27519946, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            glucosephosphate dehydrogenase deficiency 7
              favism 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          anemia 417
            normocytic anemia 182
              hemolytic anemia 182
                congenital hemolytic anemia 138
                  glucosephosphate dehydrogenase deficiency 7
                    favism 3
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.