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Details of G6PD gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| G6PD | --- | P11413 | G6PD_HUMAN | 2539 | Q16765 | Q8IU70 | 1QKI 2BH9 2BHL 1QKI | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]: Deficiency of G6PD is associated with hemolytic anemia in two different situations. First | G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals | ||||||||
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of erythrocytes, Abnormality of glycolysis, Abnormality of metabolism/homeostasis, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the gallbladder, Abnormality of the immune system, Abnormality of the integument, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the skin, Abnormality of the spleen, All, Anemia, Anemia due to reduced life span of red cells, Anemia of inadequate production, Cholecystitis, Cholelithiasis, Cholestasis, Congenital hemolytic anemia, Decreased glucosephosphate isomerase activity, Dermatological manifestations of systemic disorders, Drug-sensitive hemolytic anemia, Episodic hemolytic anemia, Generalized abnormality of skin, Hemolytic anemia, Jaundice, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Phenotypic abnormality, Splenomegaly, Visceromegaly.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||