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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 |
|---|---|---|---|
| 48 | ACO1 | aconitase 1 | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 412 | STS | steroid sulfatase | |
| 811 | CALR | calreticulin | |
| 929 | CD14 | CD14 molecule | |
| 2262 | GPC5 | glypican 5 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2524 | FUT2 | fucosyltransferase 2 (H blood group) | |
| 2719 | GPC3 | glypican 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51654 | Glypican-3 | |
| P78333 | Glypican-5 | |
| Q10981 | Galactoside alpha-(1,2)-fucosyltransferase 2 | |
| Q13454 | Tumor suppressor candidate 3 | |
| Q6ZVN8 | Hemojuvelin | |
| Q9NST1 | 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 |
