rs28933386, PTPN11

N. diseases: 15
Disease: Low set ears ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001