| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. (Human Phenotype Ontology, HP_0004446) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0004446 |
| Similar Terms | |
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6 genes associated with the stomatocytosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ABCG5 | ATP-binding cassette, sub-family G (WHITE), member 5 |
| ABCG8 | ATP-binding cassette, sub-family G (WHITE), member 8 |
| GP1BA | glycoprotein Ib (platelet), alpha polypeptide |
| RHAG | Rh-associated glycoprotein |
| SLC4A1 | solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
| STOM | stomatin |
