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: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. 11583957 2001
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267 2000
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709 2000
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR A structural basis for mutational inactivation of the tumour suppressor Smad4. 9214508 1997
dbSNP: rs121912578
rs121912578
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma 		0.800 GeneticVariation UNIPROT
dbSNP: rs121912578
rs121912578
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912581
rs121912581
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		0.710 GeneticVariation BEFREE We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. 31595668 2019
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		T 0.710 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121 2014
dbSNP: rs397518413
rs397518413
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0796081
Disease:
Myhre syndrome 		T 0.710 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
dbSNP: rs12968012
rs12968012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0013595
Disease:
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs80338965
rs80338965
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038 2017
dbSNP: rs80338965
rs80338965
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
dbSNP: rs80338965
rs80338965
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
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: 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