SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 Biomarker disease BEFREE Lowering SMAD9 as a potential novel anabolic mechanism for osteoporosis therapeutics warrants further investigation.© 2019 The Authors. 31525280 2020
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation disease BEFREE The risk of EH increased in the <i>SMAD9</i> gene rs397514716 locus dominant model (adjusted OR = 1.370, 95% CI: 1.183-1.559, <i>P</i><0.001) and recessive model (adjusted OR = 1.803, 95% CI: 1.470-1.983, <i>P</i><0.001). 30617053 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 Biomarker disease BEFREE Ablation of Hepatocyte Smad1, Smad5, and Smad8 Causes Severe Tissue Iron Loading and Liver Fibrosis in Mice. 31127639 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.010 Biomarker disease BEFREE We found that Smad8;Alb-Cre<sup>+</sup> mice exhibited no iron phenotype, whereas Smad158;Alb-Cre<sup>+</sup> mice had greater iron overload than Smad15;Alb-Cre<sup>+</sup> mice. 31127639 2019
CUI: C0032584
Disease: polyps
polyps
0.010 GeneticVariation phenotype BEFREE HEK cells transfected to express SMAD9(V90M) had reduced expression of phosphatase and tensin homolog; this reduction was also observed in a polyp from the patient. 26122142 2015
CUI: C4303092
Disease: Cystic echinococcosis
Cystic echinococcosis
0.010 Biomarker phenotype BEFREE In the present study, we identified two members of the Smad proteins, Smad8 and Smad4 homologues (termed as EgSmadE and EgSmadD, respectively), from Echinococcus granulosus, the causative agent of cystic echinococcosis (CE). 25039015 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 Biomarker group BEFREE A subset of Smad8 mutants had pulmonary adenomas uncovering a function for Smad8 in normal growth control. 19419974 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 Biomarker group BEFREE These findings implicate Smad8 in both pulmonary hypertension and lung tumorigenesis and support Smad8 as a candidate gene for PAH in humans. 19419974 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE These findings implicate Smad8 in both pulmonary hypertension and lung tumorigenesis and support Smad8 as a candidate gene for PAH in humans. 19419974 2009
Associated Pulmonary Arterial Hypertension
0.010 GeneticVariation disease BEFREE A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 19211612 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 PosttranslationalModification group BEFREE Elucidation of epigenetic inactivation of SMAD8 in cancer using targeted expressed gene display. 14996722 2004
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 PosttranslationalModification group BEFREE Elucidation of epigenetic inactivation of SMAD8 in cancer using targeted expressed gene display. 14996722 2004
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 AlteredExpression disease BEFREE Radical prostatectomy (RP) specimens from 74 patients with clinically localized PC (median follow-up 51 months, range 15-152), 44 benign prostatic hypertrophy (BPH) lesions, and 4 normal prostates (NPs) were assessed for BMP2, Smad8, and Smad4 expression using immunohistochemistry. 15042598 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 AlteredExpression disease BEFREE Small hairpin RNA-based gene silencing and gene overexpression approaches reveal that Smads 1 and 5 mediate, whereas Smad8 represses, rapamycin-induced cell death and expression of the bone morphogenetic protein (BMP) transcriptional target Id1 in human prostate cancer cell lines. 22452883 2012
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 AlteredExpression disease BEFREE Small hairpin RNA-based gene silencing and gene overexpression approaches reveal that Smads 1 and 5 mediate, whereas Smad8 represses, rapamycin-induced cell death and expression of the bone morphogenetic protein (BMP) transcriptional target Id1 in human prostate cancer cell lines. 22452883 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 AlteredExpression disease BEFREE These data suggest that decreased BMP2, nuclear smad8 and nuclear Smad4 expression are associated with the progression to PC, and in particular loss of BMP2 and Smad4 are related to progression to a more aggressive phenotype. 15042598 2004
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 AlteredExpression disease BEFREE These data suggest that decreased BMP2, nuclear smad8 and nuclear Smad4 expression are associated with the progression to PC, and in particular loss of BMP2 and Smad4 are related to progression to a more aggressive phenotype. 15042598 2004
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Malignant neoplasm of large intestine
0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
Malignant neoplasm of large intestine
0.100 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.100 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
0.100 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019