Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING IMPAIRMENT	C1384666	SPNS2	Unknown	—	Disgenet	—
		STAT1	Unknown	—	Disgenet	Chemokine signaling pathway Necroptosis Osteoclast differentiation +44 more
		STRC	Unknown	—	Disgenet	—
		TBCEL-TECTA	Unknown	—	Disgenet	—
		TCOF1	Unknown	—	Disgenet	Ribosome biogenesis in eukaryotes
		THBS1	Unknown	—	Disgenet	Rap1 signaling pathway p53 signaling pathway Phagosome +17 more
		TJP2	Unknown	—	Disgenet	Tight junction Vibrio cholerae infection Signaling by Hippo +1 more
		TLR4	Unknown	—	Disgenet	NF-kappa B signaling pathway HIF-1 signaling pathway Phagosome +41 more
		TMC1	Unknown	—	Disgenet	—
		TNC	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +6 more
		TOMT	Unknown	—	Disgenet	—
		TPRN	Unknown	—	Disgenet	—
		TSPEAR	Unknown	—	Disgenet	—
		TYR	Unknown	—	Disgenet	Tyrosine metabolism Metabolic pathways Melanogenesis +1 more
		UNC45A	Unknown	—	Disgenet	—
		VAV1	Unknown	—	Disgenet	Rap1 signaling pathway cAMP signaling pathway Chemokine signaling pathway +30 more
		WFS1	Unknown	—	Disgenet	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
		WHRN	Unknown	—	Disgenet	—
HEARING IMPAIRMENT AND INFERTILE MALE SYNDROME	MONDO:0100069	CDC14A	Unknown	27259055 29293958	ClinGen, GWAS catalog	Cell cycle Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase MAPK6/MAPK4 signaling
HEARING LOSS	EFO_0004238 MESH:D034381	ABLIM3	Unknown	34847940 37165447	GWAS catalog	Axon guidance
		ACADVL	Unknown	34847940	GWAS catalog	Fatty acid degradation Metabolic pathways Fatty acid metabolism +3 more
		ACAN	Unknown	34847940 35661827 37165447 39024449	GWAS catalog	Degradation of the extracellular matrix Keratan sulfate biosynthesis Keratan sulfate degradation +4 more
		ADCY1	Unknown	37062025	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADK	Unknown	35661827	GWAS catalog	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		AGO2	Unknown	34847940	GWAS catalog	Pre-NOTCH Transcription and Translation MicroRNA (miRNA) biogenesis Ca2+ pathway +11 more
		AHRR	Unknown	34737426	GWAS catalog	PPARA activates gene expression Phase I - Functionalization of compounds Endogenous sterols +2 more
		ARHGEF28	Unknown	34847940 35661827 36788145 37165447	GWAS catalog	Yersinia infection EPHB-mediated forward signaling
		ARID5B	Unknown	34847940 35661827	GWAS catalog	HDMs demethylate histones
		ARL16	Unknown	35661827	GWAS catalog	—
		ARSA	Unknown	34847940	GWAS catalog	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
		ASTN2	Unknown	34847940	GWAS catalog	—
		BAIAP2L2	Unknown	34847940 36788145	GWAS catalog	—
		BBS2	Unknown	37062025	GWAS catalog	BBSome-mediated cargo-targeting to cilium
		CCDC137	Unknown	35661827	GWAS catalog	—
		CCDC68	Unknown	34847940 35661827	GWAS catalog	—
		CDH23	Unknown	34847940 35661827 37165447	GWAS catalog	—
		CHMP4C	Unknown	34847940 37165447	GWAS catalog	Endocytosis Necroptosis Budding and maturation of HIV virion +4 more
		CLRN2	Unknown	34847940 35661827 37165447	GWAS catalog	—
		COCH	Unknown	35661827	GWAS catalog	—
		COL11A1	Unknown	39024449	GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		CPLX4	Unknown	37062025	GWAS catalog	Synaptic vesicle cycle
		CRIP3	Unknown	36788145 37165447	GWAS catalog	—
		CRYL1	Unknown	35661827	GWAS catalog	Pentose and glucuronate interconversions Metabolic pathways Formation of xylulose-5-phosphate
		CTBP2	Unknown	34594039 34847940 35661827 37165447 39024449	GWAS catalog	Wnt signaling pathway Notch signaling pathway Pathways in cancer +3 more
		DENND1A	Unknown	34847940	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		DLG4	Unknown	35661827	GWAS catalog	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
		DNAJC2	Unknown	35661827	GWAS catalog	Regulation of HSF1-mediated heat shock response
		DSEL	Unknown	34847940	GWAS catalog	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Dermatan sulfate biosynthesis
		DVL2	Unknown	37165447	GWAS catalog	mTOR signaling pathway Wnt signaling pathway Notch signaling pathway +23 more
		EEF1E1	Unknown	37062025	GWAS catalog	Cytosolic tRNA aminoacylation
		STAT1	Unknown	20712533	CTD	Chemokine signaling pathway Necroptosis Osteoclast differentiation +44 more
		TJP2	Unknown	21782914	CTD	Tight junction Vibrio cholerae infection Signaling by Hippo +1 more
		TLR4	Unknown	21148032	CTD	NF-kappa B signaling pathway HIF-1 signaling pathway Phagosome +41 more
		TYR	Unknown	34847940 35661827 37165447	GWAS catalog	Tyrosine metabolism Metabolic pathways Melanogenesis +1 more
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	ADCY1	Unknown	24482543	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		CDC14A	Unknown	27259055	GWAS catalog	Cell cycle Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase MAPK6/MAPK4 signaling
		STRC	Unknown	20301607 24148127	GWAS catalog	—
		TSPEAR	Unknown	22678063	GWAS catalog	—
SENSORINEURAL HEARING LOSS	EFO_1001176 C0018784	ACAN	Unknown	39024449	GWAS catalog	Degradation of the extracellular matrix Keratan sulfate biosynthesis Keratan sulfate degradation +4 more
		CDC14A	Unknown	—	Disgenet	Cell cycle Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase MAPK6/MAPK4 signaling
		CDH23	Unknown	17850630 21228398 11138008 15358736 12522556 17805295 21940737 11090341 12407180 19270079 12075507 12485990 15537665 11857743 11138009 20399731 2706105 23135401 15829536 12910270 20639393	Disgenet	—
		COL11A1	Unknown	39024449	GWAS catalog, Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		CTBP2	Unknown	39024449	GWAS catalog	Wnt signaling pathway Notch signaling pathway Pathways in cancer +3 more
		SPNS2	Unknown	—	Disgenet	—
		STRC	Unknown	—	Disgenet	—
		TBCEL-TECTA	Unknown	39024449	GWAS catalog, Disgenet	—
		TMC1	Unknown	22105175 11850623 19180119 17877751 11850618 18616530 24827932 17250663	Disgenet	—
		WFS1	Unknown	14527944 12955714 16151413 17492394 11161832 11181571 16195229 10521293 11295831 11709537 12073007 18806274 21538838 11260218 15151504 12107816 9771706 20069065 18544103 17603484 23531866 12913071 11317350 12181639 11709538 16806192 12754709 17947299	Disgenet	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
		WHRN	Unknown	22147658 16829577 15654330 12833159 15590699 10819331 11973626 15590698 17171570 15841483 17906286 16434480 12641734	Disgenet	—

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Hearing loss

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