Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu2088Pro (p.L2088P)
(
ENST00000684826.1,
ENST00000358273.9,
ENST00000693617.1,
ENST00000696138.1,
ENST00000691014.1,
ENST00000356175.7,
ENST00000687027.1 )
NF1 p.Leu2088Pro (p.L2088P) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, familial spinal
- Source Database
- DisGeNET
- Description
- Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
- Pubmed
- 11704931
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- 2001
Drugs