HFE wt Allele - CISMeF

Preferred Label : HFE wt Allele;

NCIt synonyms : MVCD7; Hemochromatosis wt Allele; High Fe Gene; HLA-H; TFQTL2; HH; HFE1; HLAH;

NCIt definition : Human HFE wild-type allele is located in the vicinity of 6p21.3 and is approximately 11 kb in length. This allele, which encodes hereditary hemochromatosis protein, is involved in iron homeostasis. Mutation of the gene is associated with hemochromatosis and microvascular complications of diabetes 7.;

GenBank Accession Number : NM_001300749;

Details

Origin ID

C124876;

UMLS CUI

C4085201;

Automatic exact mappings (from CISMeF team)
- Fucosyltransferase 1 [OMIM gene]
- Hemochromatosis, type 1 [OMIM Phenotype]
- Homeostatic iron regulator [OMIM gene]
- Major histocompatibility complex, class I, a [OMIM gene]
- Microvascular complications of diabetes, susceptibility to, 7 [OMIM Phenotype]
- Transferrin serum level quantitative trait locus 2 [OMIM Phenotype]
- hemochromatosis type 1 [DO Concept]
- homeostatic iron regulator [ORDO Gene]
OMIM relation
- Homeostatic iron regulator [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.3 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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