| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. (Human Phenotype Ontology, HP_0004860) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0004860 |
| Similar Terms | |
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1 genes associated with the thiamine-responsive megaloblastic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| SLC19A2 | solute carrier family 19 (thiamine transporter), member 2 |
