FAS Gene Mutation

Preferred Label : FAS Gene Mutation;

NCIt synonyms : TNFRSF6 Gene Mutation; Tumor Necrosis Factor Receptor Superfamily, Member 6 Gene Mutation; TNF Receptor Superfamily Member 6 Gene Mutation; Fas Cell Surface Death Receptor Gene Mutation; CD95 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the FAS gene.;

Details

Origin ID

C39579;

UMLS CUI

C1517086;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Autoimmune Lymphoproliferative Syndrome with FAS Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FAS Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutation [NCIt concept]
is_not_molecular_abnormality_of_disease
- Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FADD Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Germline FASLG Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation [NCIt concept]
molecular_abnormality_involves_gene
- FAS Gene [NCIt concept]

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