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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
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 CausalMutation CLINVAR A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. 27375208

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. 26900293

2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR JP-HHT phenotype in Danish patients with SMAD4 mutations. 26572829

2016
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 25931195

2015
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Myhre syndrome. 24580733

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 24525918

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome. 24841914

2014
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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 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 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 Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
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 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Genetic testing by cancer site: colon (polyposis syndromes). 22846733

2013