SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Disease: Idiopathic pulmonary hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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