Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu1411Phe (p.L1411F)
(
ENST00000691014.1,
ENST00000356175.7,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Leu1411Phe (p.L1411F) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis-Noonan syndrome
- Source Database
- DisGeNET
- Description
- Features of NS have been observed in individuals with NF1 -a condition known as neurofibromatosis-Noonan syndrome (NFNS).The major gene causing NFNS is NF1.
- Pubmed
- 19845691
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.481900093104562
- Year of publication
- 2009
Drugs