Germline SAMD9L Gene Mutation

Preferred Label : Germline SAMD9L Gene Mutation;

NCIt synonyms : Germline C7orf6 Gene Mutation; Germline UEF1 Gene Mutation; Germline UEF Gene Mutation; Germline DRIF2 Gene Mutation; Germline ATXPC Gene Mutation; Germline Sterile Alpha Motif Domain Containing 9 Like Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SAMD9L gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1907425;

Details

Origin ID

C200423;

UMLS CUI

C5856949;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Hematologic Neoplasm with Germline SAMD9L Mutation [NCIt concept]
- SAMD9L-Associated Hereditary Myelodysplastic Syndrome [NCIt concept]
- SAMD9L-Related Ataxia Pancytopenia Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- SAMD9L Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients