SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Juvenile polyposis syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937 2016
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697 2010
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914 2006
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors. 15014009 2004
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709 2000
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267 2000
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998