Disease: Dwarfism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0013336
Disease:
Dwarfism 		0.010 GeneticVariation BEFREE We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1. 19725129 2009