Otosclerosis Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0029899
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Genes

42 genes associated with the disease Otosclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ANGPT2 angiopoietin 2
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BPTF bromodomain PHD finger transcription factor
CD28 CD28 molecule
CD46 CD46 molecule, complement regulatory protein
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CP ceruloplasmin (ferroxidase)
GC group-specific component (vitamin D binding protein)
GDF6 growth differentiation factor 6
GH2 growth hormone 2
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HMGB1 high mobility group box 1
HNF4A hepatocyte nuclear factor 4, alpha
IGF1 insulin-like growth factor 1 (somatomedin C)
IL6 interleukin 6
ITGAV integrin, alpha V
MAPK3 mitogen-activated protein kinase 3
MEPE matrix extracellular phosphoglycoprotein
NOG noggin
PON1 paraoxonase 1
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
RELN reelin
REN renin
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SP1 Sp1 transcription factor
STRC stereocilin
TGFB1 transforming growth factor, beta 1
THEMIS thymocyte selection associated
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
ZNF383 zinc finger protein 383
ZNF410 zinc finger protein 410