nonsyndromic genetic hearing loss | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
nonsyndromic genetic hearing loss		ACTG1	Causal	—	ClinGen	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +51 more
		CDH23	Causal	—	ClinGen	—
		CEACAM16	Causal	—	ClinGen	—
		COCH	Causal	—	ClinGen	—
		EYA4	Causal	—	ClinGen	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		GJB2	Causal	—	ClinGen	Transport of connexons to the plasma membrane
		ILDR1	Causal	—	ClinGen	—
		KCNQ4	Causal	—	ClinGen	Cholinergic synapse Voltage gated Potassium channels
		LOXHD1	Causal	—	ClinGen	—
		MYO15A	Causal	—	ClinGen	Motor proteins
		MYO3A	Causal	—	ClinGen	Motor proteins
		MYO6	Causal	18348273 23485424 24105371 25999546	ClinGen	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
		MYO7A	Causal	—	ClinGen	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		OTOF	Causal	—	ClinGen	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		OTOG	Causal	—	ClinGen	—
		OTOGL	Causal	—	ClinGen	—
		POU3F4	Causal	—	ClinGen	—
		RDX	Causal	—	ClinGen	Tight junction Regulation of actin cytoskeleton Proteoglycans in cancer +2 more
		STRC	Causal	—	ClinGen	—
		SYNE4	Causal	—	ClinGen	—
		TECTA	Causal	—	ClinGen	Post-translational modification: synthesis of GPI-anchored proteins
		TMC1	Causal	—	ClinGen	—
		TMPRSS3	Causal	—	ClinGen	—
		WFS1	Causal	—	ClinGen	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		ADCY1	Unknown	—	ClinGen	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		BDP1	Unknown	—	ClinGen	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter
		CABP2	Unknown	—	ClinGen	—
		CCDC50	Unknown	—	ClinGen	—
		CDC14A	Unknown	—	ClinGen	Cell cycle Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase MAPK6/MAPK4 signaling
		CIB2	Unknown	—	ClinGen	—
		CLDN14	Unknown	—	ClinGen	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		CLRN2	Unknown	—	ClinGen	—
		COL11A2	Unknown	—	ClinGen	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		CRYM	Unknown	—	ClinGen	Lysine catabolism
		DCDC2	Unknown	—	ClinGen	—
		DIABLO	Unknown	—	ClinGen	Apoptosis Apoptosis - multiple species Release of apoptotic factors from the mitochondria +4 more
		DMXL2	Unknown	—	ClinGen	Lysosome
		ELMOD3	Unknown	—	ClinGen	—
		EPS8L2	Unknown	—	ClinGen	—
		ESPN	Unknown	—	ClinGen	—
		ESRP1	Unknown	—	ClinGen	Signaling by BRAF and RAF fusions FGFR2 alternative splicing
		ESRRB	Unknown	—	ClinGen	Signaling pathways regulating pluripotency of stem cells Nuclear Receptor transcription pathway
		GIPC3	Unknown	—	ClinGen	—
		GRAP	Unknown	—	ClinGen	Signaling by SCF-KIT
		GRHL2	Unknown	—	ClinGen	—
		GRXCR1	Unknown	—	ClinGen	—
		GRXCR2	Unknown	—	ClinGen	—
		GSDME	Unknown	—	ClinGen	Cytosolic DNA-sensing pathway
		HGF	Unknown	—	ClinGen	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +29 more
		HOMER2	Unknown	—	ClinGen	FoxO signaling pathway Glutamatergic synapse Neurexins and neuroligins

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