Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:VHL_gene
|
| gptkbp:associatedWith |
gptkb:von_Hippel-Lindau_disease
|
| gptkbp:canBe |
germline mutation
somatic mutation |
| gptkbp:cause |
hereditary cancer syndrome
abnormal blood vessel growth |
| gptkbp:detects |
genetic testing
|
| gptkbp:disrupts |
tumor suppressor function
|
| gptkbp:firstDescribed |
1993
|
| gptkbp:foundIn |
gptkb:chromosome_3p25-26
|
| https://www.w3.org/2000/01/rdf-schema#label |
VHL gene mutation
|
| gptkbp:impact |
hypoxia-inducible factor regulation
|
| gptkbp:inheritsFrom |
autosomal dominant
|
| gptkbp:riskFactor |
gptkb:hemangioblastoma
gptkb:pheochromocytoma renal cell carcinoma |
| gptkbp:bfsParent |
gptkb:renal_cell_carcinoma
gptkb:advanced_renal_cell_carcinoma |
| gptkbp:bfsLayer |
6
|