mixed hearing impairment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. (Human Phenotype Ontology, HP_0000410)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000410
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Genes

16 genes associated with the mixed hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANKH ANKH inorganic pyrophosphate transport regulator
CHD7 chromodomain helicase DNA binding protein 7
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20C family with sequence similarity 20, member C
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
HOXA2 homeobox A2
PAX1 paired box 1
PORCN porcupine homolog (Drosophila)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E