rs121918462, PTPN11

N. diseases: 13
Disease: Congenital thrombocytopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital thrombocytopenia
CUI: C0272278
Disease: Congenital thrombocytopenia
0.010 GeneticVariation BEFREE A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 23446178 2013