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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.140 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.200 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 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
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Genetic testing by cancer site: colon (polyposis syndromes). 22846733

2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations of SMAD4 account for both LAPS and Myhre syndromes. 22585601

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Natural history and life-threatening complications in Myhre syndrome and review of the literature. 27562837

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914

2006
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. 26420300

2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014