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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hemochromatosis type 2A
Summary
- Synonym
-
- HFE2A
- Definition
- A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.
- Super Class
- hemochromatosis type 2
External Links
- Disease Ontology
- DOID:0111027
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6NW40 | Repulsive guidance molecule B | |
| Q6ZVN8 | Hemojuvelin | |
| Q96B86 | Repulsive guidance molecule A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0011675 | Arrhythmia |
| HP:0001635 | Congestive heart failure |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001638 | Cardiomyopathy |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0011462 | Young adult onset |
| HP:0001394 | Cirrhosis |
| HP:0000789 | Infertility |
| HP:0001744 | Splenomegaly |
