C93102Level 5

Deleterious Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A genetic variation that is known to be associated with an increased risk of disease.

**Synonyms:** - Deleterious - Disease-Causing Mutation - Driver Mutation - deleterious mutation - disease-causing mutation

GET/api/v1/systems/nci_thesaurus/nodes/C93102

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C131620Deleterious Germline Mutation

C131774Deleterious BRIP1 Gene Mutation

C131775Deleterious PALB2 Gene Mutation

C131776Deleterious BARD1 Gene Mutation

C131777Deleterious MSH2 Gene Mutation

C131778Deleterious MSH6 Gene Mutation

C131779Deleterious MLH1 Gene Mutation

C131780Deleterious PMS2 Gene Mutation

C134505Deleterious CDK12 Gene Mutation

C134509Deleterious PPP2R2A Gene Mutation

C134510Deleterious FANCL Gene Mutation

C134511Deleterious CHEK2 Gene Mutation

C134512Deleterious CHEK1 Gene Mutation

C134513Deleterious ATM Gene Mutation

C136970Deleterious EPCAM Gene Mutation

C141233Deleterious BRCA Gene Mutation

C141248Deleterious Homologous Recombination Pathway Gene Mutation

C146675Deleterious PTEN Gene Mutation

C146676Deleterious TP53 Gene Mutation

C150148Deleterious ATR Gene Mutation

C150149Deleterious FANCA Gene Mutation

C150150Deleterious FANCC Gene Mutation

C150151Deleterious FANCD2 Gene Mutation

C150152Deleterious FANCE Gene Mutation

C150153Deleterious FANCF Gene Mutation

C150154Deleterious FANCM Gene Mutation

C150496Deleterious IKZF1 Gene Mutation

C154915Deleterious DNA Damage Response Gene Mutation

C156008Deleterious HDAC2 Gene Mutation

C156010Deleterious GEN1 Gene Mutation

C156011Deleterious RAD51 Gene Mutation

C156012Deleterious ERCC3 Gene Mutation

C156013Deleterious ABRAXAS1 Gene Mutation

C160878Deleterious CYSLTR2 Gene Mutation

C160879Deleterious GNAQ Gene Mutation

C160888Deleterious PLCB4 Gene Mutation

C162041Deleterious FBXW7 Gene Mutation

C162514Deleterious GNA11 Gene Mutation

C162744Deleterious STK11 Gene Mutation

C162745Deleterious DICER1 Gene Mutation

C162746Deleterious SMARCA4 Gene Mutation

C162747Deleterious CDH1 Gene Mutation

C170410Deleterious POLE Gene Mutation

C170425Deleterious CDKN2A Gene Mutation

C170426Deleterious POLD1 Gene Mutation

C170431Deleterious GREM1 Gene Mutation

C171071Deleterious BAP1 Gene Mutation

C171073Deleterious ATRX Gene Mutation

C171074Deleterious BLM Gene Mutation

C171075Deleterious ARID1A Gene Mutation

C172343Deleterious IDH1 Gene Mutation

C172344Deleterious IDH2 Gene Mutation

C172345Deleterious RPA1 Gene Mutation

C172346Deleterious SEM1 Gene Mutation

C172347Deleterious WRN Gene Mutation

C172353Deleterious NF1 Gene Mutation

C172354Deleterious NF2 Gene Mutation

C172355Deleterious PIK3R1 Gene Mutation

C172356Deleterious TSC1 Gene Mutation

C172357Deleterious TSC2 Gene Mutation

C180781Deleterious ALK Gene Mutation

C180797Deleterious RET Gene Mutation

C180798Deleterious ROS1 Gene Mutation

C180974Deleterious RECQL Gene Mutation

C183252Deleterious BRAF Gene Mutation

C191948Deleterious SPOP Gene Mutation

C210642Deleterious APC Gene Mutation

C210643Deleterious SMAD4 Gene Mutation

C211671Deleterious MET Gene Mutation

C211672Deleterious NTRK Family Gene Mutation

C222347Deleterious PDGFR Family Gene Mutation

Cross-system equivalences0

No cross-system equivalences mapped for this node.

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