C178120Level 5

Gain of Function Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of a gene that results in increased expression or activity for the encoded protein.

**Synonyms:** - Activating Gene Mutation - Activating Mutation - Gain of Function Mutation

GET/api/v1/systems/nci_thesaurus/nodes/C178120

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C126340Activating PI3K Gene Mutation

C126345Activating STAT3 Gene Mutation

C126346Activating STAT1 Gene Mutation

C128901Activating RAS Mutation

C132060Activating TSHR Gene Mutation

C134499Activating RAF Mutation

C141370Activating ERBB3 Mutation

C142101Activating MTOR Gene Mutation

C146723Activating ROS1 Gene Mutation

C150434Activating CD79A Gene Mutation

C150435Activating CD79B Gene Mutation

C150436Activating EML4/ALK Gene Mutation

C150623Activating FLT3 Gene Mutation

C153103Activating FGFR Gene Mutation

C156761Activating PPM1D Gene Mutation

C157580Activating PTEN Gene Mutation

C157593Activating JAK3 Gene Mutation

C157594Activating MYD88 Gene Mutation

C157595Activating IRAK1 Gene Mutation

C157596Activating TYK2 Gene Mutation

C158058Activating NOTCH3 Mutation

C158059Activating NOTCH2 Mutation

C158062Activating NOTCH4 Mutation

C160877Activating ERK Family Gene Mutation

C173884Activating CBL Gene Mutation

C176671Activating JAK1 Gene Mutation

C176689Activating NTRK Family Gene Mutation

C180795Activating AKT3 Gene Mutation

C180796Activating AKT2 Gene Mutation

C189228Activating MAP2K1 Gene Mutation

C189345Activating MAP2K2 Gene Mutation

C191958Activating ESR1 Gene Mutation

C199573Activating Histone Family Gene Mutation

C201120Activating XPO1 Gene Mutation

C212084Activating STAT5B Gene Mutation

C213457Activating AXL Gene Mutation

C213458Activating FLT1 Gene Mutation

C213460Activating KDR Gene Mutation

C213461Activating FLT4 Gene Mutation

C213463Activating TEK Gene Mutation

C219644Activating IDH1 Gene Mutation

C219645Activating IDH2 Gene Mutation

Cross-system equivalences0

No cross-system equivalences mapped for this node.

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