SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Disease: LOEYS-DIETZ SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		0.800 GeneticVariation UNIPROT Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		0.800 GeneticVariation UNIPROT Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 21778426 2011
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		T 0.800 CausalMutation CLINVAR