otosclerosis Gene Set

Dataset GAD 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)
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Genes

6 genes associated with the disease otosclerosis in GWAS and other genetic association datasets from the GAD 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
COL1A1 collagen, type I, alpha 1
RELN reelin
TGFB1 transforming growth factor, beta 1