nonsyndromic deafness Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (Human Disease Ontology, DOID_0050563)
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76 genes involed in the disease nonsyndromic deafness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACTG1 actin gamma 1
ADCY1 adenylate cyclase 1 (brain)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CABP2 calcium binding protein 2
CCDC50 coiled-coil domain containing 50
CDH23 cadherin-related 23
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16
CIB2 calcium and integrin binding family member 2
CLDN14 claudin 14
COCH cochlin
COL11A2 collagen, type XI, alpha 2
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1
COL4A6 collagen, type IV, alpha 6
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DFNB59 deafness, autosomal recessive 59
DIABLO diablo, IAP-binding mitochondrial protein
DIAPH1 diaphanous-related formin 1
DIAPH3 diaphanous-related formin 3
ELMOD3 ELMO/CED-12 domain containing 3
ESPN espin
ESRRB estrogen-related receptor beta
EYA4 EYA transcriptional coactivator and phosphatase 4
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GRHL2 grainyhead-like 2 (Drosophila)
GRXCR1 glutaredoxin, cysteine rich 1
GRXCR2 glutaredoxin, cysteine rich 2
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
ILDR1 immunoglobulin-like domain containing receptor 1
KARS lysyl-tRNA synthetase
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
LHFPL5 lipoma HMGIC fusion partner-like 5
LOXHD1 lipoxygenase homology domains 1
MARVELD2 MARVEL domain containing 2
MSRB3 methionine sulfoxide reductase B3
MYH14 myosin, heavy chain 14, non-muscle
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
MYO1A myosin IA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOGL otogelin-like
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
PCDH15 protocadherin-related 15
PNPT1 polyribonucleotide nucleotidyltransferase 1
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PTPRQ protein tyrosine phosphatase, receptor type, Q
RDX radixin
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SIX1 SIX homeobox 1
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SMPX small muscle protein, X-linked
STRC stereocilin
STRCP1 stereocilin pseudogene 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
TBC1D24 TBC1 domain family, member 24
TECTA tectorin alpha
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TNC tenascin C
TPRN taperin
TRIOBP TRIO and F-actin binding protein
TSPEAR thrombospondin-type laminin G domain and EAR repeats
USH1C Usher syndrome 1C (autosomal recessive, severe)
WFS1 Wolfram syndrome 1 (wolframin)