SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1343555503
rs1343555503
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0003486
Disease:
Aortic Aneurysm 		0.010 GeneticVariation BEFREE In this study, we functionally characterized the Smad4 S271N mutation (the mutation c. 812G>A in Smad4 results in the amino acid substitution Ser271Asn) that was isolated from TAA individuals. 28716708 2017
dbSNP: rs12455792
rs12455792
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0003493
Disease:
Aortic Diseases 		0.010 GeneticVariation BEFREE Our findings identified rs12455792 as a predictor for progression of vascular media pathological changes related thoracic aortic disorders. 28666732 2017