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: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 GeneticVariation disease BEFREE PASMCs were obtained from 12 patients with PAH including 9 patients with idiopathic PAH (IPAH) and 3 patients with heritable PAH (HPAH) (2 patients with BMPR2 mutation and one patient with SMAD9 mutation) who underwent lung transplantation. 30180189 2018
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 GeneticVariation disease BEFREE However, current guidelines, clinical practices, and available gene panels focus the diagnosis of PAH on a relatively low number of genes and variants associated with the bone morphogenic proteins and transforming Growth Factor-β pathways, such as the BMPR2, ACVRL1, CAV1, ENG, and SMAD9. 28768485 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 Biomarker disease GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 GeneticVariation disease BEFREE Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension. 23590310 2013
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 GeneticVariation disease BEFREE We studied a family in which multiple members had pulmonary arterial hypertension without identifiable mutations in any of the genes known to be associated with the disease, including BMPR2, ALK1, ENG, SMAD9, and CAV1. 23883380 2013
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 Biomarker disease BEFREE Our findings suggest the involvement of SMAD8 in the pathogenesis of PAH. 19211612 2009
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 Biomarker disease 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: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 Biomarker disease HPO
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 Biomarker disease CTD_human
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 Biomarker disease GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 GeneticVariation disease BEFREE Here, we tested ataluren in lung- or blood-derived cells from patients with HPAH with nonsense mutations in BMPR2 (n = 6) or SMAD9 (n = 1). 23590310 2013
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 GeneticVariation disease BEFREE Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, the activin receptor-like kinase 1 (ALK1) gene, and SMAD8 gene have been reported in heritable pulmonary arterial hypertension (HPAH) and in idiopathic pulmonary arterial hypertension (IPAH). 22374147 2012
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 GermlineCausalMutation disease ORPHANET Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 21920918 2011
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 Biomarker disease BEFREE Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 21920918 2011
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 Biomarker disease CTD_human
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.600 GeneticVariation disease UNIPROT Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. 21898662 2011
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.600 CausalMutation disease CLINVAR
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.510 Biomarker disease GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.510 Biomarker disease BEFREE Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, the activin receptor-like kinase 1 (ALK1) gene, and SMAD8 gene have been reported in heritable pulmonary arterial hypertension (HPAH) and in idiopathic pulmonary arterial hypertension (IPAH). 22374147 2012
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.510 Biomarker disease MGD Defective pulmonary vascular remodeling in Smad8 mutant mice. 19419974 2009
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.420 Biomarker disease GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.420 GeneticVariation disease BEFREE Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension. 23590310 2013
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.420 GeneticVariation disease BEFREE We studied a family in which multiple members had pulmonary arterial hypertension without identifiable mutations in any of the genes known to be associated with the disease, including BMPR2, ALK1, ENG, SMAD9, and CAV1. 23883380 2013