Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Met1035Arg (p.M1035R)
(
ENST00000358273.9,
ENST00000696138.1,
ENST00000356175.7,
ENST00000691014.1 )
NF1 p.Met1035Arg (p.M1035R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1).
- Pubmed
- 8807336
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 1996
Drugs