VHL Gene - CISMeF

Preferred Label : VHL Gene;

NCIt synonyms : Von Hippel-Lindau Tumor Suppressor Gene; VHL;

CISMeF acronym : VHL;

NCIt definition : This gene is involved in transcriptional repression and protein degradation.;

Détails

Origin ID

C18261;

UMLS CUI

C0694897;

Automatic exact mappings (from CISMeF team)
- VHL gene [LOINC component]
- Von Hippel-Lindau disease [ORDO Disease]
- Von hippel-lindau syndrome [OMIM Phenotype]
- Von hippel-lindau tumor suppressor [OMIM gene]
- von Hippel-Lindau disease [MeSH Descriptor]
- von Hippel-Lindau tumor suppressor [ORDO Gene]
- von hippel-lindau disease [MedlinePlus Topic]
HGNC gene
- von Hippel-Lindau tumor suppressor [HGNC gene]
OMIM relation
- Von hippel-lindau tumor suppressor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- VHL gene [LOINC component]
- Von hippel-lindau tumor suppressor [OMIM gene]
- von Hippel-Lindau tumor suppressor [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Von Hippel-Lindau Disease Tumor Suppressor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Inactivating VHL Gene Mutation [NCIt concept]
- VHL Gene Amplification [NCIt concept]
- VHL Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- 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 Uterine Ligament Papillary Cystadenoma [NCIt concept]
gene_mapped_to_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]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]
- Ubiquitination [NCIt concept]
genetic_biomarker_related_to
- VHL Alteration Positive [NCIt concept]
- Von Hippel Lindau Syndrome [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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