conductive hearing impairment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. (Human Phenotype Ontology, HP_0000405)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000405
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACVR1 activin A receptor, type I
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
B3GALTL beta 1,3-galactosyltransferase-like
BEST1 bestrophin 1
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CCBE1 collagen and calcium binding EGF domains 1
CDHR1 cadherin-related family member 1
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
DCHS1 dachsous cadherin-related 1
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DNAI1 dynein, axonemal, intermediate chain 1
EDN1 endothelin 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ERF Ets2 repressor factor
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
GUCA1B guanylate cyclase activator 1B (retina)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HOXA2 homeobox A2
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IGBP1 immunoglobulin (CD79A) binding protein 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM6A lysine (K)-specific demethylase 6A
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
MAK male germ cell-associated kinase
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
NEK2 NIMA-related kinase 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH2 notch 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
OFD1 oral-facial-digital syndrome 1
PAX1 paired box 1
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PGM3 phosphoglucomutase 3
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU3F4 POU class 3 homeobox 4
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
SAG S-antigen; retina and pineal gland (arrestin)
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SF3B4 splicing factor 3b, subunit 4, 49kDa
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC7A14 solute carrier family 7, member 14
SLITRK6 SLIT and NTRK-like family, member 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SOST sclerostin
SPATA7 spermatogenesis associated 7
SQSTM1 sequestosome 1
SRCAP Snf2-related CREBBP activator protein
TBX22 T-box 22
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
ZBTB20 zinc finger and BTB domain containing 20
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513