pulmonary hypertension Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. (Experimental Factor Ontology, EFO_0001361)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003548
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Genes

8 gene mutations causing the pulmonary hypertension phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADORA2A adenosine A2a receptor
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CAV1 caveolin 1, caveolae protein, 22kDa
LMNA lamin A/C
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIP vasoactive intestinal peptide