SAMD9L wt Allele

Preferred Label : SAMD9L wt Allele;

NCIt synonyms : Sterile Alpha Motif Domain Containing 9 Like wt Allele; Sterile Alpha Motif Domain Containing 9-Like Gene; UEF; ATXPC; UEF1; KIAA2005; C7orf6; DRIF2; FLJ39885; Chromosome 7 Open Reading Frame 6 Gene;

NCIt definition : Human SAMD9L wild-type allele is located in the vicinity of 7q21.2 and is approximately 18 kb in length. This allele, which encodes sterile alpha motif domain-containing protein 9-like protein, plays a role in signaling regulation, tumor suppression and endocytosis. Mutations in the gene are associated with myeloid disorders, hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome.;

NCI Metathesaurus CUI : CL1378652;

GenBank Accession Number : AB095926;

Details

Origin ID

C168735;

UMLS CUI

C5239082;

Automatic exact mappings (from CISMeF team)
- Ataxia-pancytopenia syndrome [OMIM Phenotype]
- sterile alpha motif domain containing 9 like [ORDO Gene]
OMIM relation
- Sterile alpha motif domain-containing protein 9-like [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 SAMD9L Mutation [NCIt concept]
- SAMD9L-Related Ataxia Pancytopenia Syndrome [NCIt concept]

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