Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Arg200Trp (p.R200W)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Arg200Trp (p.R200W) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- Von Hippel-Lindau syndrome
- Source Database
- DisGeNET
- Description
- We evaluated the role of VHL in 8 children with a history of polycythemia and an elevated serum Epo level and found 3 different germline VHL mutations in 4 of them.
- Pubmed
- 12393546
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.658392405606355
- Year of publication
- 2003
Drugs