SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Neoplastic Syndromes, Hereditary ×
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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Formation of a stable heterodimer between Smad2 and Smad4. 11274206 2001
dbSNP: rs377767347
rs377767347
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998