C178119Level 5

Loss of Function Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

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

**Synonyms:** - Inactivating Gene Mutation - Inactivating Mutation - Loss of Function Mutation

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C132061Inactivating TSHR Gene Mutation

C150448BAP1 Loss of Function Gene Mutation

C150641Homologous Recombination Repair Biallelic Inactivation

C156048Inactivating SETD2 Gene Mutation

C158676CDK12 Loss of Function Mutation

C167090Inactivating BRCA Gene Mutation

C167093Inactivating DAXX Gene Mutation

C167094Inactivating ATRX Gene Mutation

C167095Inactivating ARID1A Gene Mutation

C167109Inactivating CDKN2B Gene Mutation

C174177Inactivating EPCAM Gene Mutation

C175326Inactivating KDM6A Gene Mutation

C175328Inactivating KMT2C Gene Mutation

C175331Inactivating KMT2D Gene Mutation

C175350SMARCA2 Gene Inactivation

C175396Inactivating BRIP1 Gene Mutation

C175397Inactivating FANCG Gene Mutation

C175398Inactivating PALB2 Gene Mutation

C175399Inactivating FANCL Gene Mutation

C175400Inactivating FANCM Gene Mutation

C175401Inactivating FANCE Gene Mutation

C175402Inactivating FANCD2 Gene Mutation

C175403Inactivating FANCF Gene Mutation

C175404Inactivating FANCI Gene Mutation

C175405Inactivating FANCB Gene Mutation

C175406Inactivating FANCC Gene Mutation

C175407Inactivating FANCA Gene Mutation

C176673Inactivating STAT1 Gene Mutation

C176674Inactivating STAT5B Gene Mutation

C179305Inactivating AXIN2 Gene Mutation

C179307Inactivating FBXW7 Gene Mutation

C179340Inactivating BARD1 Gene Mutation

C179343Inactivating CHEK1 Gene Mutation

C179347Inactivating ERCC2 Gene Mutation

C179348Inactivating ERCC3 Gene Mutation

C179353Inactivating MRE11 Gene Mutation

C179354Inactivating NBN Gene Mutation

C179355Inactivating PRKDC Gene Mutation

C179356Inactivating RAD50 Gene Mutation

C179357Inactivating RAD51 Gene Mutation

C179358Inactivating RAD51C Gene Mutation

C179361Inactivating RAD51D Gene Mutation

C179364Inactivating XRCC2 Gene Mutation

C179395Inactivating RNF43 Gene Mutation

C179855PRC2 Loss of Function Gene Mutation

C183348Inactivating POLD1 Gene Mutation

C183349Inactivating PARP1 Gene Mutation

C183538Inactivating PIK3R1 Gene Mutation

C186699Germline DICER1 Loss of Function Gene Mutation

C191409Inactivating RAD51B Gene Mutation

C201719Inactivating STAG2 Gene Mutation

C36334Tumor Suppressor Gene Inactivation

C36699Inactivating Mismatch Repair Gene Mutation

Cross-system equivalences0

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