SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767 2007
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079 2004
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112 2003
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259 2000
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724 1999
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244 1998
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652 1996