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: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.420 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 Biomarker disease CTD_human Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.400 Biomarker group CTD_human Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.400 GeneticVariation group GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.400 GeneticVariation group GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		0.300 Biomarker phenotype GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		0.300 Biomarker disease GENOMICS_ENGLAND Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas. 26122142 2015
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation disease ORPHANET Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 21920918 2011
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C1969342
Disease: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED 		0.300 Biomarker disease CTD_human
CUI: C1969343
Disease: Pulmonary Hypertension, Primary, Fenfluramine-Associated
Pulmonary Hypertension, Primary, Fenfluramine-Associated 		0.300 Biomarker disease CTD_human
CUI: C3714844
Disease: Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia 		0.300 Biomarker disease CTD_human
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		0.300 Biomarker disease CTD_human
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.200 Biomarker phenotype RGD Dysregulated bone morphogenetic protein signaling in monocrotaline-induced pulmonary arterial hypertension. 17347486 2007
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.110 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.110 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.110 GeneticVariation disease BEFREE The SMAD8 alteration in a third of breast and colon cancers makes it a significant novel tumor marker as well as a potential therapeutic target. 14996722 2004
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0346629
Disease: Malignant neoplasm of large intestine
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