Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914

2006
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		G 0.800 GeneticVariation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
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
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267

2000
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709

2000
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
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
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
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
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		T 0.800 CausalMutation CLINVAR A structural basis for mutational inactivation of the tumour suppressor Smad4. 9214508

1997
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR JP-HHT phenotype in Danish patients with SMAD4 mutations. 26572829

2016