SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Myhre syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.710 GeneticVariation BEFREE We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. 31595668 2019
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		T 0.710 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121 2014
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		T 0.710 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014