otosclerosis Gene Set

Dataset	GeneRIF Biological Term Annotations
Category	structural or functional annotations
Type	biological term
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

14 genes co-occuring with the biological term otosclerosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol	Name
AGT	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
BMP2	bone morphogenetic protein 2
BMP4	bone morphogenetic protein 4
CD46	CD46 molecule, complement regulatory protein
COL1A1	collagen, type I, alpha 1
COL1A2	collagen, type I, alpha 2
NOG	noggin
OTSC1	otosclerosis 1
OTSC3	otosclerosis 3
OTSC4	otosclerosis 4
OTSC5	otosclerosis 5
RELN	reelin
TGFB1	transforming growth factor, beta 1
VDR	vitamin D (1,25- dihydroxyvitamin D3) receptor