Inactivating VHL Gene Mutation

Preferred Label : Inactivating VHL Gene Mutation;

NCIt synonyms : VHL Tumor-Suppressor Gene Inactivation; Inactivating VHL1 Gene Mutation; VHL Gene Inactivation; Loss of Function VHL Mutation; Inactivating Von Hippel Lindau Tumor Suppressor Gene Mutation; Loss of Function VHL Gene Mutation; Inactivating VHL Mutation; Loss of Function Von Hippel-Lindau Tumor Suppressor Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the VHL gene that either inhibits expression or results in the translation of an inactive von Hippel-Lindau disease tumor suppressor protein.;

Details

Origin ID

C36687;

UMLS CUI

C1519884;

Molecular abnormality of diseases
- Non-Hereditary Clear Cell Renal Cell Carcinoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- BAP1-Mutated Clear Cell Renal Cell Carcinoma [NCIt concept]
- Hereditary Clear Cell Renal Cell Carcinoma [NCIt concept]
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Benign Pancreatic Serous Neoplasm [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Central Nervous System Hemangioblastoma [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Clear Cell Renal Cell Carcinoma [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Pancreatic Neuroendocrine Tumor [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Pancreatic Serous Cystadenoma [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Pancreatic Serous Microcystic Adenoma [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Retinal Hemangioblastoma [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Uterine Ligament Papillary Cystadenoma [NCIt concept]
molecular_abnormality_involves_gene
- VHL Gene [NCIt concept]

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