SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767360
rs377767360
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 25931195 2015
dbSNP: rs377767360
rs377767360
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472 2013
dbSNP: rs377767360
rs377767360
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. 21465659 2011
dbSNP: rs377767360
rs377767360
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648 2005
dbSNP: rs377767360
rs377767360
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709 2000
dbSNP: rs377767360
rs377767360
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724 1999