Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING IMPAIRMENT	C1384666	ACTG1	Causal	—	Disgenet	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +51 more
		ADGRV1	Causal	—	Disgenet	—
		ALMS1	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		BRCA2	Causal	—	Disgenet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		BSND	Causal	—	Disgenet	Stimuli-sensing channels
		CDH23	Causal	—	Disgenet	—
		CHD7	Causal	—	Disgenet	—
		CIB2	Causal	—	Disgenet	—
		CLDN14	Causal	—	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		CLRN1	Causal	—	Disgenet	—
		COCH	Causal	—	Disgenet	—
		COL11A1	Causal	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		COL4A5	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		DIAPH1	Causal	—	Disgenet	Focal adhesion Regulation of actin cytoskeleton Cytoskeleton in muscle cells +5 more
		EDNRB	Causal	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		EYA4	Causal	—	Disgenet	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		FOXI1	Causal	—	Disgenet	—
		GATA3	Causal	—	Disgenet	Th1 and Th2 cell differentiation Th17 cell differentiation Parathyroid hormone synthesis, secretion and action +6 more
		GJB2	Causal	—	Disgenet	Transport of connexons to the plasma membrane
		HEXA	Causal	—	Disgenet	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more
		KCNQ1	Causal	—	Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		KCNQ4	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		LHFPL5	Causal	—	Disgenet	—
		LOXHD1	Causal	—	Disgenet	—
		LRP2	Causal	—	Disgenet	Hedgehog signaling pathway Thyroid hormone synthesis Cholesterol metabolism +4 more
		MANBA	Causal	—	Disgenet	Other glycan degradation Lysosome Neutrophil degranulation +1 more
		MARVELD2	Causal	—	Disgenet	Tight junction
		MITF	Causal	—	Disgenet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		MYO15A	Causal	—	Disgenet	Motor proteins
		MYO6	Causal	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
		MYO7A	Causal	—	Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		OTOF	Causal	—	Disgenet	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		OTOG	Causal	—	Disgenet	—
		PLS1	Causal	—	Disgenet	—
		POU4F3	Causal	—	Disgenet	—
		PTRH2	Causal	—	Disgenet	Ub-specific processing proteases
		SETD5	Causal	—	Disgenet	—
		SLC26A4	Causal	—	Disgenet	Thyroid hormone synthesis Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)
		SMPX	Causal	—	Disgenet	—
		TECTA	Causal	—	Disgenet	Post-translational modification: synthesis of GPI-anchored proteins
		TMIE	Causal	—	Disgenet	—
		TMPRSS3	Causal	—	Disgenet	—
		TRIOBP	Causal	—	Disgenet	—
		USH1C	Causal	—	Disgenet	—
		USH1G	Causal	—	Disgenet	—
		USH2A	Causal	—	Disgenet	—
HEARING LOSS	EFO_0004238 MESH:D034381	GJB2	Causal	35661827	GWAS catalog	Transport of connexons to the plasma membrane
HEARING LOSS	EFO_0004238 MESH:D034381	MSRB3	Causal	21782914	CTD	Protein repair
HEARING LOSS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	MONDO:0033261	NLRP3	Causal	—	ClinVar	Necroptosis NOD-like receptor signaling pathway Cytosolic DNA-sensing pathway +12 more
HEARING LOSS, AUTOSOMAL DOMINANT 37	MONDO:0032802	COL11A1	Causal	30245514 33169910	ClinVar, GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
HEARING LOSS, AUTOSOMAL DOMINANT 71	MONDO:0033258	DMXL2	Causal	—	ClinVar, GenCC	Lysosome
HEARING LOSS, AUTOSOMAL DOMINANT 73	MONDO:0033260	PTPRQ	Causal	29309402	CTD, ClinVar	—
HEARING LOSS, AUTOSOMAL DOMINANT 76	MONDO:0032917	PLS1	Causal	30872814 31397523 31432506 36537221	ClinVar	—
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	BSND	Causal	20301607	GWAS catalog	Stimuli-sensing channels
		CDH23	Causal	20301607 24148127	GWAS catalog	—
		CIB2	Causal	23023331 24148127	GWAS catalog	—
		CLDN14	Causal	20301607 24148127	GWAS catalog	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		GJB2	Causal	20301607 24148127	GWAS catalog	Transport of connexons to the plasma membrane
		LHFPL5	Causal	20301607 24148127	Orphanet	—
		LOXHD1	Causal	20301607 24148127	CTD	—
		MARVELD2	Causal	20301607 24148127	GWAS catalog	Tight junction
		MSRB3	Causal	24148127	GenCC	Protein repair
		MYO15A	Causal	20301607 24148127	GenCC	Motor proteins
		MYO7A	Causal	20301607 24148127	GWAS catalog	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		OTOF	Causal	20301607 24148127	Orphanet	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		OTOG	Causal	23122587	GWAS catalog	—
		PTPRQ	Causal	—	ClinGen, GenCC	—
		SLC26A4	Causal	20301607 24148127	GWAS catalog	Thyroid hormone synthesis Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)
		TECTA	Causal	20301607 24148127	ClinVar	Post-translational modification: synthesis of GPI-anchored proteins
		TMIE	Causal	20301607 24148127	GWAS catalog	—
		TMPRSS3	Causal	20301607 24148127	GWAS catalog	—
		TRIOBP	Causal	16385457 16385458 20510926 23226338 24853665 27014650 27344577 27764096	ClinGen, GWAS catalog	—
		USH1C	Causal	20301607 24148127	GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 110	MONDO:0054860	COCH	Causal	21073934 282874 29449721 31126177	ClinVar, GWAS catalog	—

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Hearing loss

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