Germline SAMD9 Gene Mutation

Preferred Label : Germline SAMD9 Gene Mutation;

NCIt synonyms : Germline NFTC Gene Mutation; Germline MIRAGE Gene Mutation; Germline Sterile Alpha Motif Domain Containing 9 Gene Mutation; Germline OEF1 Gene Mutation; Germline OEF2 Gene Mutation; Germline Expressed in Aggressive Fibromatosis Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SAMD9 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1907435;

Details

Origin ID

C200424;

UMLS CUI

C5856229;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Hematologic Neoplasm with Germline SAMD9 Mutation [NCIt concept]
- SAMD9-Associated Hereditary Myelodysplastic Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- SAMD9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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