rs397507545, PTPN11

N. diseases: 20
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR