otosclerosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

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

Symbol Name Standardized Value
A1BG alpha-1-B glycoprotein 1.61933
COL1A1 collagen, type I, alpha 1 1.56444
RELN reelin 1.36161
NOG noggin 1.22172
NOTCH1 notch 1 1.18626
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.17249
BMP2 bone morphogenetic protein 2 1.14348
ARFRP1 ADP-ribosylation factor related protein 1 1.12825
SLC26A2 solute carrier family 26 (anion exchanger), member 2 1.05471
BMP4 bone morphogenetic protein 4 0.986007
BMP3 bone morphogenetic protein 3 0.966663
CD46 CD46 molecule, complement regulatory protein 0.829869
COL1A2 collagen, type I, alpha 2 0.80936
TGFB1 transforming growth factor, beta 1 0.787623
CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 0.776159
EML1 echinoderm microtubule associated protein like 1 0.728952
PGRMC1 progesterone receptor membrane component 1 0.698715
CRLF1 cytokine receptor-like factor 1 0.666755
HLA-A major histocompatibility complex, class I, A 0.661197
FRZB frizzled-related protein 0.656046
TBPL1 TBP-like 1 0.629635
BMPR1B bone morphogenetic protein receptor, type IB 0.607714
BMP5 bone morphogenetic protein 5 0.605762
ALPPL2 alkaline phosphatase, placental-like 2 0.598351
ALPP alkaline phosphatase, placental 0.597961
ALPL alkaline phosphatase, liver/bone/kidney 0.597181
CALCA calcitonin-related polypeptide alpha 0.582384
FNDC3A fibronectin type III domain containing 3A 0.521502
EGR3 early growth response 3 0.488169
SMAD6 SMAD family member 6 0.487027
FMN1 formin 1 0.451831
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 0.421765
MATN3 matrilin 3 0.420641
CPSF3L cleavage and polyadenylation specific factor 3-like 0.418394
ASPN asporin 0.403811
DYNLT1 dynein, light chain, Tctex-type 1 0.397843
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 0.388166
CHD7 chromodomain helicase DNA binding protein 7 0.355972
GJB2 gap junction protein, beta 2, 26kDa 0.353027
RUNX2 runt-related transcription factor 2 0.309928
BMPR1A bone morphogenetic protein receptor, type IA 0.30342
WIPF2 WAS/WASL interacting protein family, member 2 0.293334
C3 complement component 3 0.284728
XDH xanthine dehydrogenase 0.274376
CALCR calcitonin receptor 0.265849
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 0.250311
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 0.237009
NF2 neurofibromin 2 (merlin) 0.232836
TNF tumor necrosis factor 0.216672
IDS iduronate 2-sulfatase 0.213621
PTH parathyroid hormone 0.198709
BIRC2 baculoviral IAP repeat containing 2 0.190786
MAPK1 mitogen-activated protein kinase 1 0.183835
HLA-C major histocompatibility complex, class I, C 0.182086
TES testin LIM domain protein 0.181222
PI3 peptidase inhibitor 3, skin-derived 0.169091
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.159124
GC group-specific component (vitamin D binding protein) 0.157602