Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 Biomarker GENOMICS_ENGLAND We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539

2011
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 Biomarker GENOMICS_ENGLAND Inactivation of Smad4 leads to impaired ocular development and cataract formation. 20735985

2010