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: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.760 CausalMutation CLINVAR

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 CausalMutation CLINVAR

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 CausalMutation CLINVAR

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: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR A structural basis for mutational inactivation of the tumour suppressor Smad4. 9214508

1997
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. 9389648

1997
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. 9582123

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 9582123

1998
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: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease. 9811934

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR SMAD genes in juvenile polyposis. 10441006

1999
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 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: 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709

2000
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: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267

2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267

2000
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Formation of a stable heterodimer between Smad2 and Smad4. 11274206

2001
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003