deafness Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.|An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.|A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. (Experimental Factor Ontology, EFO_0001063)
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Genes

91 genes co-occuring with the biological term deafness in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ACTG1 actin gamma 1
AK2 adenylate kinase 2
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
BSND barttin CLCNK-type chloride channel accessory beta subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDH23 cadherin-related 23
CIB2 calcium and integrin binding family member 2
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN14 claudin 14
COCH cochlin
COQ6 coenzyme Q6 monooxygenase
COX1
CRYM crystallin, mu
DFNA53 deafness, autosomal dominant 53
DFNB31 deafness, autosomal recessive 31
DFNB33 deafness, autosomal recessive 33
DFNM1 deafness (recessive, nonsyndromic) modifier 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPH3 diphthamide biosynthesis 3
ESPN espin
EXOC2 exocyst complex component 2
FGF3 fibroblast growth factor 3
FOXI1 forkhead box I1
GATA3 GATA binding protein 3
GIPC3 GIPC PDZ domain containing family, member 3
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GJD2 gap junction protein, delta 2, 36kDa
GRHL2 grainyhead-like 2 (Drosophila)
GTPBP3 GTP binding protein 3 (mitochondrial)
HOXA1 homeobox A1
JAG1 jagged 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MARVELD2 MARVEL domain containing 2
MCOLN3 mucolipin 3
MMP1 matrix metallopeptidase 1
MSRB3 methionine sulfoxide reductase B3
MT-ATP6 ATP synthase F0 subunit 6
MT-TL1 tRNA
MTO1 mitochondrial tRNA translation optimization 1
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
MYO1A myosin IA
MYO6 myosin VI
MYO7A myosin VIIA
OPA1 optic atrophy 1 (autosomal dominant)
OTOF otoferlin
OTOS otospiralin
PCDH15 protocadherin-related 15
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRJ protein tyrosine phosphatase, receptor type, J
RFT1 RFT1 homolog (S. cerevisiae)
RNR1 RNA, ribosomal cluster 1
SERAC1 serine active site containing 1
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLITRK6 SLIT and NTRK-like family, member 6
SMPX small muscle protein, X-linked
SOX10 SRY (sex determining region Y)-box 10
TALDO1 transaldolase 1
TBC1D24 TBC1 domain family, member 24
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TJP2 tight junction protein 2
TMC1 transmembrane channel-like 1
TMC2 transmembrane channel-like 2
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TPRN taperin
TRIOBP TRIO and F-actin binding protein
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TXN thioredoxin
USH1C Usher syndrome 1C (autosomal recessive, severe)
WFS1 Wolfram syndrome 1 (wolframin)