Gene: SMAD4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875322
rs281875322
SMAD4
G 0.700 CausalMutation CLINVAR Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 27302097

2016
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937

2016
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. 27375208

2016
dbSNP: rs281875322
rs281875322
SMAD4
G 0.700 CausalMutation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 GeneticVariation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 GeneticVariation CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.700 GeneticVariation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
dbSNP: rs587783060
rs587783060
SMAD4
CA 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472

2013
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs1060500740
rs1060500740
SMAD4
C 0.700 GeneticVariation CLINVAR Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. 21572342

2012
dbSNP: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555687377
rs1555687377
SMAD4
A 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555687386
rs1555687386
SMAD4
ATCCC 0.700 CausalMutation CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968

2012
dbSNP: rs1568208715
rs1568208715
SMAD4
C 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1568211187
rs1568211187
SMAD4
T 0.700 CausalMutation CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968

2012
dbSNP: rs281875322
rs281875322
SMAD4
G 0.700 CausalMutation CLINVAR Mutations of SMAD4 account for both LAPS and Myhre syndromes. 22585601

2012
dbSNP: rs281875322
rs281875322
SMAD4
G 0.700 CausalMutation CLINVAR Retinal involvement in two unrelated patients with Myhre syndrome. 22683461

2012
dbSNP: rs281875322
rs281875322
SMAD4
G 0.700 CausalMutation CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968

2012
dbSNP: rs587781618
rs587781618
SMAD4
A 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 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
dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs281875322
rs281875322
SMAD4
G 0.700 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539

2011