abnormal carotid body physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control (Mammalian Phenotype Ontology, MP_0003438)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003438
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2 gene mutations causing the abnormal carotid body physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein