Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Tyr279Ser (p.Y279S)
(
ENST00000687906.1,
ENST00000351677.7,
ENST00000392597.5,
ENST00000688597.1,
ENST00000635625.1,
ENST00000639857.2,
ENST00000690210.1 )
PTPN11 p.Tyr279Cys (p.Y279C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr279Ser (p.Y279S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr279Cys (p.Y279C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Dwarfism
- Source Database
- DisGeNET
- Description
- Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM).
- Pubmed
- 21339643
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2011
Drugs