Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date. 18823382

2009
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors. 15014009

2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity? 22748914

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709

2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes. 15235019

2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472

2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Retinal involvement in two unrelated patients with Myhre syndrome. 22683461

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination. 19135894

2009
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. 14526373

2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539

2011
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 27302097

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. 11583957

2001
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 16287957

2005
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010