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: 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: rs1057519962
rs1057519962
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152018
Disease:
Esophageal carcinoma
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: C0278701
Disease:
Gastric Adenocarcinoma
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
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: C0278701
Disease:
Gastric Adenocarcinoma
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: C0009404
Disease:
Colorectal Neoplasms
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: 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: C0278701
Disease:
Gastric Adenocarcinoma
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: C0009404
Disease:
Colorectal Neoplasms
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
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: C0278701
Disease:
Gastric Adenocarcinoma
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
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: 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: C0152018
Disease:
Esophageal carcinoma
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: C0152018
Disease:
Esophageal carcinoma
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: 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: 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: 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: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0152018
Disease:
Esophageal carcinoma
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: C0009404
Disease:
Colorectal Neoplasms
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)
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
G 0.700 CausalMutation CLINVAR Severe constipation in a patient with Myhre syndrome: a case report. 26636501 2016
dbSNP: rs281875322
rs281875322
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
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
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