inspiratory stridor Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. (Human Phenotype Ontology, HP_0005348)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005348
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Genes

5 genes associated with the inspiratory stridor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
D2HGDH D-2-hydroxyglutarate dehydrogenase
IGHMBP2 immunoglobulin mu binding protein 2
PLP1 proteolipid protein 1
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3