Activating PTPN11 Gene Mutation

Preferred Label : Activating PTPN11 Gene Mutation;

NCIt synonyms : PTP-1D Activating Mutation; SHP2 Activating Mutation; PTP2C Activating Mutation; SH-PTP2 Activating Mutation; SHP-2 Activating Mutation; PTPN11 Activating Mutation; BPTP3 Activating Mutation; Protein Tyrosine Phosphatase, Non-Receptor Type 11 Activating Mutation; PTPN11 Activating Gene Mutation; Activating PTPN11 Mutation;

NCIt definition : A change in the nucleotide sequence of the PTPN11 gene that that results in constitutive activation of both tyrosine-protein phosphatase non-receptor type 11 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL537979;

Details

Origin ID

C139794;

UMLS CUI

C4682497;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- PTPN11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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