SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 Biomarker group BEFREE Inhibition of Smad4 SUMOylation impaired spatial learning and memory in rats by downregulating TPM2, a gene associated with skeletal myopathies. 29183317 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 Biomarker group CTD_human Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011