Gene: SMAD9
Alternate names for this Gene: MADH6|MADH9|PPH2|SMAD8|SMAD8/9|SMAD8A|SMAD8B
Gene Summary: The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 13
Location in Chromosome : 13q13.3
Description of this Gene: SMAD family member 9
Type of Gene: protein-coding
rs12427600 in
SMAD9 gene and
Adenocarcinoma of large intestine
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs7333607 in
SMAD9 gene and
Adenoma of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs9576132 in
SMAD9 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs556429 in
SMAD9 gene and
Bone Density
PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
rs12427600 in
SMAD9 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
Colorectal Carcinoma
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
Colorectal Neoplasms
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
Malignant neoplasm of large intestine
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs12427600 in
SMAD9 gene and
Malignant tumor of colon
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs397514715 in
SMAD9 gene and
PULMONARY HYPERTENSION, PRIMARY, 2
PMID 21898662 2011 Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
rs146583835 in
SMAD9 gene and
Pulmonary arterial hypertension associated with congenital heart disease
PMID 30029678 2018 Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.