Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Natural history and life-threatening complications in Myhre syndrome and review of the literature. 27562837

2016
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. 26420300

2015
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790

2014
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Genetic testing by cancer site: colon (polyposis syndromes). 22846733

2013
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968

2012
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations of SMAD4 account for both LAPS and Myhre syndromes. 22585601

2012
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539

2011
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914

2006
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004