C36327Level 4

Gene Abnormality

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.

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C120204Defect in the Gene for MIS Type II Receptor

C129264IDH Gene Family Mutation

C129409Core Binding Factor Complex Mutation

C131783DNA Repair Gene Mutation

C132229RAS Family Gene Mutation

C136420JAK Family Gene Mutation

C136421STAT Family Gene Mutation

C136422MEK Family Gene Mutation

C136423ERK Family Gene Mutation

C136425RAF Family Gene Mutation

C136644NOTCH Family Gene Mutation

C137953PI3K/MTOR Pathway Mutation

C141240Receptor Tyrosine Kinase Gene Mutation

C141251CCAAT Enhancer Binding Protein Gene Mutation

C148101Hedgehog Pathway Mutation

C148105GNAI Family Gene Mutation

C150520DNA Damage Response Gene Mutation

C151919Telomere Maintenance Gene Mutation

C154305Histone Gene Mutation

C157553CDK Gene Mutation

C166407Cyclin Gene Mutation

C178119Loss of Function Gene Mutation

C178120Gain of Function Gene Mutation

C183307Meiotic Recombination Gene Mutation

C190003Sensitizing Gene Mutation

C190004Antineoplastic Therapy Resistant Gene Mutation

C193282mRNA Splicing Gene Mutation

C206303Actionable Variation

C206304Non-Actionable Variation

C206671HOX Pathway Mutation

C212832MYC Gene Family Mutation

C36335Abnormal DNA Repair

C36336Deregulation of Protein and Messenger RNA Expression

C36344Oncogene Deregulation

C36664Aberrant DNA Methylation

C45212PDCD1LG2 Gene Overexpression

C45581Gene Amplification Abnormality

C45584Gene Fusion Abnormality

C48301SDH Complex Gene Mutation

Cross-system equivalences0

No cross-system equivalences mapped for this node.

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