CBLN2, cerebellin 2 precursor, 147381

N. diseases: 19; N. variants: 2
Disease: Idiopathic pulmonary arterial hypertension ×
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 		0.030 GeneticVariation disease BEFREE In addition to rare mutations as a monogenic cause of HPAH, common variants in the gene encoding cerebellin 2 increase the risk of PAH by approximately two-fold. 27770446 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.030 GeneticVariation disease BEFREE In addition to rare mutations as a monogenic cause of HPAH, common variants in cerebellin 2 (CBLN2) increase the risk of PAH by approximately twofold. 24442418 2014
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.030 AlteredExpression disease BEFREE CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs. 23502781 2013