Gene: SMAD4 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 CausalMutation disease CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 CausalMutation disease CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121 2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.800 CausalMutation disease CLINVAR We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome. 22158539 2011