SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Brachydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.400 Biomarker disease CTD_human Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.400 Biomarker disease HPO