Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Thr472Met (p.T472M)
(
ENST00000351677.7,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Thr472Met (p.T472M) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
- Pubmed
- 21365175
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2011
Drugs