SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Myhre syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 GeneticVariation disease BEFREE We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Inactivation of Smad4 leads to impaired ocular development and cataract formation. 20735985 2010