SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker group CTD_human Smad2 and Smad3 coordinately regulate craniofacial and endodermal development. 15183723 2004
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker group CTD_human Mice trans-heterozygous for both Smad2 and nodal mutations display a range of phenotypes, including gastrulation defects, complex craniofacial abnormalities such as cyclopia, and defects in left-right patterning, indicating that Smad2 may mediate nodal signalling in these developmental processes. 9655392 1998