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.;

Details

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_has_abnormality
- VHL Gene Inactivation [NCIt concept]
gene_involved_in_molecular_abnormality
- VHL Gene Amplification [NCIt concept]
- VHL Gene Inactivation [NCIt concept]
- VHL Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Central Nervous System Hemangioblastoma [NCIt concept]
- Hereditary Clear Cell Renal Cell Carcinoma [NCIt concept]
- Pancreatic Neuroendocrine Tumor [NCIt concept]
- Pancreatic Serous Cystadenoma [NCIt concept]
- Retinal Hemangioblastoma [NCIt concept]
- Uterine Ligament Papillary Cystadenoma Associated with von Hippel-Lindau Disease [NCIt concept]
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Pancreatic Serous Adenoma [NCIt concept]
gene_mapped_to_disease
- Advanced Pancreatic Neuroendocrine Tumor [NCIt concept]
- Advanced Pancreatic Neuroendocrine Tumor G1 [NCIt concept]
- Advanced Pancreatic Neuroendocrine Tumor G2 [NCIt concept]
- Brain Stem Hemangioblastoma [NCIt concept]
- Central Nervous System Hemangioblastoma [NCIt concept]
- Cerebellar Hemangioblastoma [NCIt concept]
- Cerebral Hemangioblastoma [NCIt concept]
- Functioning Pancreatic Neuroendocrine Tumor [NCIt concept]
- Functioning Pancreatic Neuroendocrine Tumor G2 [NCIt concept]
- Hereditary Clear Cell Renal Cell Carcinoma [NCIt concept]
- Locally Advanced Pancreatic Neuroendocrine Tumor [NCIt concept]
- Locally Advanced Pancreatic Neuroendocrine Tumor G3 [NCIt concept]
- Malignant Pancreatic Gastrinoma [NCIt concept]
- Malignant Pancreatic Glucagonoma [NCIt concept]
- Malignant Pancreatic Insulinoma [NCIt concept]
- Malignant Pancreatic Somatostatinoma [NCIt concept]
- Malignant Pancreatic Vipoma [NCIt concept]
- Medullary Hemangioblastoma [NCIt concept]
- Metastatic Pancreatic Neuroendocrine Tumor [NCIt concept]
- Metastatic Pancreatic Neuroendocrine Tumor G1 [NCIt concept]
- Metastatic Pancreatic Neuroendocrine Tumor G2 [NCIt concept]
- Metastatic Pancreatic Neuroendocrine Tumor G3 [NCIt concept]
- Non-Functioning Pancreatic Delta Cell Neuroendocrine Tumor [NCIt concept]
- Non-Functioning Pancreatic Neuroendocrine Tumor [NCIt concept]
- Non-Functioning Pancreatic Neuroendocrine Tumor G1 [NCIt concept]
- Non-Functioning Pancreatic Neuroendocrine Tumor G2 [NCIt concept]
- Pancreatic ACTH-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Delta Cell Neuroendocrine Tumor [NCIt concept]
- Pancreatic Gastrin-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Gastrinoma [NCIt concept]
- Pancreatic Glucagon-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Glucagonoma [NCIt concept]
- Pancreatic Insulin-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Insulinoma [NCIt concept]
- Pancreatic Neuroendocrine Microtumor [NCIt concept]
- Pancreatic Neuroendocrine Tumor [NCIt concept]
- Pancreatic Neuroendocrine Tumor G1 [NCIt concept]
- Pancreatic Neuroendocrine Tumor G2 [NCIt concept]
- Pancreatic Neuroendocrine Tumor G3 [NCIt concept]
- Pancreatic Neuroendocrine Tumor by AJCC v8 Stage [NCIt concept]
- Pancreatic Serotonin-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Serous Cystadenoma [NCIt concept]
- Pancreatic Somatostatin-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Somatostatinoma [NCIt concept]
- Pancreatic VIP-Producing Neuroendocrine Tumor [NCIt concept]
- Pancreatic Vipoma [NCIt concept]
- Retinal Hemangioblastoma [NCIt concept]
- Spinal Hemangioblastoma [NCIt concept]
- Stage I Pancreatic Neuroendocrine Tumor AJCC v8 [NCIt concept]
- Stage II Pancreatic Neuroendocrine Tumor AJCC v8 [NCIt concept]
- Stage III Pancreatic Neuroendocrine Tumor AJCC v8 [NCIt concept]
- Stage IV Pancreatic Neuroendocrine Tumor AJCC v8 [NCIt concept]
- Unresectable Pancreatic Neuroendocrine Tumor [NCIt concept]
- Unresectable Pancreatic Neuroendocrine Tumor G3 [NCIt concept]
- Uterine Ligament Papillary Cystadenoma Associated with von Hippel-Lindau Disease [NCIt concept]
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel Lindau Syndrome-Associated Pancreatic Serous Adenoma [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]

Keyword's position in hierarchy(ies) :

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