SAMD9 wt Allele

Preferred Label : SAMD9 wt Allele;

NCIt synonyms : Chromosome 7 Open Reading Frame 5 Gene; Expressed in Aggressive Fibromatosis Gene; KIAA2004; OEF1; OEF2; Sterile Alpha Motif Domain Containing 9 wt Allele; C7orf5; DRIF1; NFTC; MIRAGE; FLJ20073;

NCIt definition : Human SAMD9 wild-type allele is located in the vicinity of 7q21.2 and is approximately 19 kb in length. This allele, which encodes sterile alpha motif domain-containing protein 9, may be involved in extra-osseous calcification, inflammatory responses and endosomal vesicle fusion. Mutation of the gene is associated with normophosphatemic familial tumoral calcinosis and MIRAGE syndrome.;

NCI Metathesaurus CUI : CL552111;

GenBank Accession Number : AB095925;

Details

Origin ID

C150315;

UMLS CUI

C4723868;

Automatic exact mappings (from CISMeF team)
- Mirage syndrome [OMIM Phenotype]
- Tumoral calcinosis, normophosphatemic, familial [OMIM Phenotype]
- mirage [MeSH concept]
- mirage [MeSH Supplementary Concept]
- sterile alpha motif domain containing 9 [ORDO Gene]
OMIM relation
- Sterile alpha motif domain-containing protein 9 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline SAMD9 Mutation [NCIt concept]

Keyword's position in hierarchy(ies) :

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