Disease: Short stature ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO