Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Formation of a stable heterodimer between Smad2 and Smad4. 11274206

2001
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267

2000
dbSNP: rs377767347
rs377767347
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs377767360
rs377767360
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
dbSNP: rs377767360
rs377767360
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709

2000
dbSNP: rs377767360
rs377767360
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Myhre syndrome. 24580733

2014
dbSNP: rs397518413
rs397518413
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. 24841914

2014
dbSNP: rs587780124
rs587780124
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587781359
rs587781359
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587781618
rs587781618
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs730881956
rs730881956
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GGC 0.700 CausalMutation CLINVAR

dbSNP: rs786201200
rs786201200
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs786203560
rs786203560
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR

dbSNP: rs786203560
rs786203560
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR JP-HHT phenotype in Danish patients with SMAD4 mutations. 26572829

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. 26900293

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012