Aliases: VHL1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| 3p- Syndrome | susceptibility germline |
mechanism: Deletion Including the VHL Locus
|
| Chuvash Polycythemia | causative germline |
mechanism: Impaired pVHL Binding to Hydroxylated HIF-alpha
|
| Non-functional Pancreatic Neuroendocrine Tumor | susceptibility germline | |
| Clear Cell Renal Cell Carcinoma |
untyped
Germline and Somatic Inactivating Mutations
|
|
| Pheochromocytoma and Paraganglioma |
untyped
Germline Loss-of-Function Mutations
|
|
| Renal Cell Carcinoma |
untyped
Somatic loss of function
|
|
| Von Hippel-Lindau Disease |
untyped
Germline Loss-of-Function Mutations
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| von Hippel-Lindau disease MONDO:0008667 | AD | Definitive 2020-05-14 |
Von Hippel-Lindau Disease
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.