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: rs387906850
rs387906850
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: rs387906850
rs387906850
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: rs387906850
rs387906850
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3 		T 0.800 CausalMutation CLINVAR