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: rs1555687386
rs1555687386
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		ATCCC 0.700 CausalMutation CLINVAR A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. 22243968 2012
dbSNP: rs1555687386
rs1555687386
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		ATCCC 0.700 CausalMutation CLINVAR FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination. 19135894 2009
dbSNP: rs1555687386
rs1555687386
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		ATCCC 0.700 CausalMutation CLINVAR Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 16287957 2005
dbSNP: rs1555687386
rs1555687386
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		ATCCC 0.700 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs1555687386
rs1555687386
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		ATCCC 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112 2003
dbSNP: rs1555687386
rs1555687386
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		ATCCC 0.700 CausalMutation CLINVAR Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. 9389648 1997