Preferred Label : COL3A1 wt Allele;
NCIt synonyms : Collagen, Type III, Alpha 1 Gene; Collagen Type III Alpha 1 Chain wt Allele; Collagen, Type III, Alpha-1 Gene; Ehlers-Danlos Syndrome Type IV, Autosomal Dominant Gene; EDS4A; Collagen, Fetal Gene; Collagen, Blood Vessel Gene;
NCIt definition : Human COL3A1 wild-type allele is located in the vicinity of 2q32.2 and is approximately
38 kb in length. This allele, which encodes collagen alpha-1(III) chain protein, is
involved in collagen formation. Mutations in this gene are associated with Ehlers-Danlos
syndrome type IV, aortic and arterial aneurysms and lipoblastoma.;
NCI Metathesaurus CUI : CL541465;
GenBank Accession Number : X15332;
Origin ID : C143053;
UMLS CUI : C4553375;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
