otosclerosis Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000362
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Genes

49 genes associated with the otosclerosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
HLA-DRA major histocompatibility complex, class II, DR alpha 2.15785
NOTCH4 notch 4 1.99461
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 1.97023
STAT4 signal transducer and activator of transcription 4 1.61591
TNPO3 transportin 3 1.61591
PSORS1C1 psoriasis susceptibility 1 candidate 1 1.37339
AGER advanced glycosylation end product-specific receptor 1.31377
TNXB tenascin XB 1.31285
CD247 CD247 molecule 1.30781
TNIP1 TNFAIP3 interacting protein 1 1.28282
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 1.27109
RELN reelin 1.21853
SOX5 SRY (sex determining region Y)-box 5 1.15352
HSPA1L heat shock 70kDa protein 1-like 1.13723
STK19 serine/threonine kinase 19 1.12316
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1.11116
ZNF383 zinc finger protein 383 1.09191
MSH5 mutS homolog 5 1.07173
GRB10 growth factor receptor-bound protein 10 1.04365
C6ORF10 chromosome 6 open reading frame 10 1.02164
PRRC2A proline-rich coiled-coil 2A 0.984504
OPCML opioid binding protein/cell adhesion molecule-like 0.896546
ZNF527 zinc finger protein 527 0.870718
CDH18 cadherin 18, type 2 0.840142
DYSF dysferlin 0.836232
SMAD3 SMAD family member 3 0.793451
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.784165
DGKQ diacylglycerol kinase, theta 110kDa 0.773374
RBMS3 RNA binding motif, single stranded interacting protein 3 0.769717
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 0.768197
ZNF423 zinc finger protein 423 0.748122
SLIT3 slit homolog 3 (Drosophila) 0.731918
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.710458
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.702479
SFSWAP splicing factor, suppressor of white-apricot family 0.630475
ARMC9 armadillo repeat containing 9 0.60465
TSPAN16 tetraspanin 16 0.602605
IRAK2 interleukin-1 receptor-associated kinase 2 0.60143
NOL10 nucleolar protein 10 0.598311
CHODL chondrolectin 0.594816
NPAS3 neuronal PAS domain protein 3 0.593729
ZNF585A zinc finger protein 585A 0.593575
C1QB complement component 1, q subcomponent, B chain 0.58687
CDYL2 chromodomain protein, Y-like 2 0.585631
SUSD3 sushi domain containing 3 0.583301
CADPS2 Ca++-dependent secretion activator 2 0.580796
FBXO32 F-box protein 32 0.580561
HPGDS hematopoietic prostaglandin D synthase 0.578589
IL12RB2 interleukin 12 receptor, beta 2 0.522995