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 Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity. 24580733 2014
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 GermlineCausalMutation disease ORPHANET A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012