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 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 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 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 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 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 GeneticVariation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. 21572342

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
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: 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: 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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.150 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
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: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.130 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.130 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: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer. 23139211

2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007