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hemochromatosis type 1
Summary
- Synonym
-
- HFE1
- symptomatic form of HFE-related hereditary hemochromatosis
- symptomatic form of classic hemochromatosis
- symptomatic form of hemochromatosis type 1
- Definition
- A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
- Super Class
- hemochromatosis
External Links
- Disease Ontology
- DOID:0111029
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2817 | GPC1 | glypican 1 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3958 | LGALS3 | galectin 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 6401 | SELE | selectin E | |
| 6402 | SELL | selectin L | |
| 6718 | AKR1D1 | aldo-keto reductase family 1 member D1 |
Related Glycoprotein
