Otosclerosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. (Experimental Factor Ontology, EFO_0004213)
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Genes

145 genes co-occuring with the disease Otosclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
RELN reelin 2.471
COL1A1 collagen, type I, alpha 1 2.419
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 2.314
MEPE matrix extracellular phosphoglycoprotein 2.236
GJB2 gap junction protein, beta 2, 26kDa 2.231
COCH cochlin 2.203
NOG noggin 2.173
BMP4 bone morphogenetic protein 4 2.146
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 2.068
BMP2 bone morphogenetic protein 2 1.989
COL1A2 collagen, type I, alpha 2 1.986
POU3F4 POU class 3 homeobox 4 1.88
GDF6 growth differentiation factor 6 1.794
OTOF otoferlin 1.786
TMPRSS3 transmembrane protease, serine 3 1.774
MYO7A myosin VIIA 1.736
SLC26A4 solute carrier family 26 (anion exchanger), member 4 1.73
TGFB1 transforming growth factor, beta 1 1.73
MYO15A myosin XVA 1.723
SLC26A2 solute carrier family 26 (anion exchanger), member 2 1.689
GJB6 gap junction protein, beta 6, 30kDa 1.683
CCDC154 coiled-coil domain containing 154 1.682
SAXO2 stabilizer of axonemal microtubules 2 1.67
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 1.663
ATOH1 atonal homolog 1 (Drosophila) 1.657
SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 1.655
CDH23 cadherin-related 23 1.639
CD46 CD46 molecule, complement regulatory protein 1.614
ATP11B ATPase, class VI, type 11B 1.59
ZNRD2 zinc ribbon domain containing 2 1.572
CCDC97 coiled-coil domain containing 97 1.568
CCDC59 coiled-coil domain containing 59 1.557
FOXL1 forkhead box L1 1.548
EYA4 EYA transcriptional coactivator and phosphatase 4 1.541
NF2 neurofibromin 2 (merlin) 1.519
EYA1 EYA transcriptional coactivator and phosphatase 1 1.514
POU4F3 POU class 4 homeobox 3 1.506
CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 1.506
TMC1 transmembrane channel-like 1 1.478
BMP5 bone morphogenetic protein 5 1.475
OTOS otospiralin 1.467
EHBP1L1 EH domain binding protein 1-like 1 1.461
ACAN aggrecan 1.46
ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 1.437
C6ORF163 chromosome 6 open reading frame 163 1.43
USH1C Usher syndrome 1C (autosomal recessive, severe) 1.415
IBSP integrin-binding sialoprotein 1.412
CCDC106 coiled-coil domain containing 106 1.405
WHRN whirlin 1.404
ESYT3 extended synaptotagmin-like protein 3 1.395
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4 1.382
PJVK pejvakin 1.379
TMPRSS4 transmembrane protease, serine 4 1.37
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 1.366
CCDC192 coiled-coil domain containing 192 1.365
MYO6 myosin VI 1.361
PTX4 pentraxin 4, long 1.352
GJC3 gap junction protein, gamma 3, 30.2kDa 1.335
PPP2R5B protein phosphatase 2, regulatory subunit B', beta 1.335
HLA-A major histocompatibility complex, class I, A 1.333
COL2A1 collagen, type II, alpha 1 1.324
COG5 component of oligomeric golgi complex 5 1.322
GDF5 growth differentiation factor 5 1.319
CCDC50 coiled-coil domain containing 50 1.318
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 1.317
OTOR otoraplin 1.312
FAM20A family with sequence similarity 20, member A 1.309
CRTAP cartilage associated protein 1.306
VSX1 visual system homeobox 1 1.304
P3H1 prolyl 3-hydroxylase 1 1.299
ADCY4 adenylate cyclase 4 1.298
TCF25 transcription factor 25 (basic helix-loop-helix) 1.297
PCDH15 protocadherin-related 15 1.294
RBMXL1 RNA binding motif protein, X-linked-like 1 1.289
CNMD chondromodulin 1.288
TSPEAR thrombospondin-type laminin G domain and EAR repeats 1.278
FAM20C family with sequence similarity 20, member C 1.277
PRSS21 protease, serine, 21 (testisin) 1.261
SMIM8 small integral membrane protein 8 1.248
ARSJ arylsulfatase family, member J 1.243
MATN3 matrilin 3 1.242
TNF tumor necrosis factor 1.242
DRG2 developmentally regulated GTP binding protein 2 1.24
KRTAP10-5 keratin associated protein 10-5 1.237
PTH parathyroid hormone 1.228
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 1.223
OR10G2 olfactory receptor, family 10, subfamily G, member 2 1.222
DCTPP1 dCTP pyrophosphatase 1 1.217
COL11A2 collagen, type XI, alpha 2 1.194
HOXA2 homeobox A2 1.19
SH3PXD2B SH3 and PX domains 2B 1.179
BMP3 bone morphogenetic protein 3 1.176
BMP1 bone morphogenetic protein 1 1.175
ZAN zonadhesin (gene/pseudogene) 1.172
MINDY4B MINDY family member 4B 1.151
ILDR1 immunoglobulin-like domain containing receptor 1 1.145
ACE angiotensin I converting enzyme 1.141
NOMO3 NODAL modulator 3 1.14
RPN2 ribophorin II 1.134
RUNX2 runt-related transcription factor 2 1.129
RWDD2A RWD domain containing 2A 1.128
RERGL RERG/RAS-like 1.118
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1.115
ESD esterase D 1.115
AHSG alpha-2-HS-glycoprotein 1.109
COPS3 COP9 signalosome subunit 3 1.105
TELO2 telomere maintenance 2 1.104
SLC26A5 solute carrier family 26 (anion exchanger), member 5 1.1
SOX14 SRY (sex determining region Y)-box 14 1.099
TBC1D24 TBC1 domain family, member 24 1.095
SIX1 SIX homeobox 1 1.087
FKBP10 FK506 binding protein 10, 65 kDa 1.087
SAXO1 stabilizer of axonemal microtubules 1 1.084
FAM111A family with sequence similarity 111, member A 1.082
LMX1A LIM homeobox transcription factor 1, alpha 1.079
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 1.078
ASPN asporin 1.075
ZDHHC7 zinc finger, DHHC-type containing 7 1.07
BMP7 bone morphogenetic protein 7 1.067
BGLAP bone gamma-carboxyglutamate (gla) protein 1.056
LOXHD1 lipoxygenase homology domains 1 1.052
FGF3 fibroblast growth factor 3 1.052
SALL1 spalt-like transcription factor 1 1.048
FGF9 fibroblast growth factor 9 1.048
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 1.047
OTOGL otogelin-like 1.044
COTL1 coactosin-like F-actin binding protein 1 1.041
ATRN attractin 1.035
HRC histidine rich calcium binding protein 1.033
CIB2 calcium and integrin binding family member 2 1.033
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 1.026
BDNF brain-derived neurotrophic factor 1.025
GYPC glycophorin C (Gerbich blood group) 1.023
FRZB frizzled-related protein 1.023
CDH7 cadherin 7, type 2 1.015
C11ORF87 chromosome 11 open reading frame 87 1.015
HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 1.013
ANGPTL7 angiopoietin-like 7 1.012
CRYM crystallin, mu 1.009
FGF8 fibroblast growth factor 8 (androgen-induced) 1.009
CDH20 cadherin 20, type 2 1.008
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.006
MYH14 myosin, heavy chain 14, non-muscle 1.005
KCNJ15 potassium channel, inwardly rectifying subfamily J, member 15 1.003
HLA-B major histocompatibility complex, class I, B 1.002