Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING LOSS	EFO_0004238 MESH:D034381	TSBP1	Unknown	35661827	GWAS catalog	—
		TTN	Unknown	37062025	GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		TTYH2	Unknown	37062025	GWAS catalog	Stimuli-sensing channels
		TUB	Unknown	34847940 35661827 37165447	GWAS catalog	—
		UBE2R2	Unknown	37062025	GWAS catalog	Ubiquitin mediated proteolysis Synthesis of active ubiquitin: roles of E1 and E2 enzymes Antigen processing: Ubiquitination & Proteasome degradation
		USH1G	Unknown	30029624	CTD	—
		UTP15	Unknown	34847940 37165447	GWAS catalog	Ribosome biogenesis in eukaryotes Major pathway of rRNA processing in the nucleolus and cytosol
		ZNF185	Unknown	35661827	GWAS catalog	—
		ZNF318	Unknown	34847940 35661827 36788145 37165447	GWAS catalog	—
		ZNF66	Unknown	37062025	GWAS catalog	—
		ZNF85	Unknown	37062025	GWAS catalog	—
		ZRANB1	Unknown	35661827	GWAS catalog	Degradation of beta-catenin by the destruction complex Ovarian tumor domain proteases
HEARING LOSS DISORDER	MONDO:0005365	FOXI1	Unknown	29242249 9843211 16932748 41833579 15173882 8825632 7957066 12642503 17503324	ClinGen, GWAS catalog	—
		GJB2	Unknown	—	ClinGen	Transport of connexons to the plasma membrane
		KCNQ4	Unknown	—	GenCC	Cholinergic synapse Voltage gated Potassium channels
		THOC1	Unknown	32776944	Disgenet	Nucleocytoplasmic transport Spliceosome Transport of Mature mRNA derived from an Intron-Containing Transcript +2 more
HEARING LOSS, AUTOSOMAL DOMINANT 72	MONDO:0033259	SLC44A4	Unknown	28013291 28859437	ClinVar, GWAS catalog	Choline metabolism in cancer Synthesis of PC Transport of bile salts and organic acids, metal ions and amine compounds
HEARING LOSS, AUTOSOMAL DOMINANT 81	MONDO:0030549	ELMOD3	Unknown	—	ClinVar	—
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	DCDC2	Unknown	25601850	GWAS catalog	—
		ELMOD3	Unknown	24039609	Disgenet	—
		EPS8	Unknown	24741995	Disgenet	—
		EPS8L2	Unknown	26282398	GWAS catalog	—
		GRAP	Unknown	30610177	GWAS catalog	Signaling by SCF-KIT
		MET	Unknown	25941349	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +37 more
		NARS2	Unknown	25807530	Orphanet	Aminoacyl-tRNA biosynthesis
		PPIP5K2	Unknown	29590114	ClinGen, Disgenet	Phosphatidylinositol signaling system Synthesis of pyrophosphates in the cytosol
		RIPOR2	Unknown	24958875	GWAS catalog	—
		ROR1	Unknown	27162350	GWAS catalog	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
		S1PR2	Unknown	26805784	Orphanet	Sphingolipid signaling pathway Neuroactive ligand-receptor interaction G alpha (i) signalling events +1 more
		SLC22A4	Unknown	27023905 33643381	ClinGen, GWAS catalog	Choline metabolism in cancer Organic cation transport
		SYNE4	Unknown	23348741 20301607	GWAS catalog	—
		TMEM132E	Unknown	25331638 31656313	ClinGen, HPO	—
		WBP2	Unknown	26881968 28302725	ClinGen, GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 100	MONDO:0032740	PPIP5K2	Unknown	—	ClinVar, GenCC	Phosphatidylinositol signaling system Synthesis of pyrophosphates in the cytosol
HEARING LOSS, AUTOSOMAL RECESSIVE 108	MONDO:0033200	ROR1	Unknown	27162350	ClinVar, GWAS catalog	Wnt signaling pathway WNT5A-dependent internalization of FZD2, FZD5 and ROR2
HEARING LOSS, AUTOSOMAL RECESSIVE 99	MONDO:0032776	TMEM132E	Unknown	239240 246942 25331638 31656313	ClinVar, GenCC	—
SENSORINEURAL HEARING LOSS	C0018784 EFO_1001176	ACTB	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +54 more
		AFG3L2	Unknown	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		AIFM1	Unknown	—	Disgenet	Apoptosis Necroptosis
		ANKRD24	Unknown	—	Disgenet	—
		ATP6V0A4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		BCAP31	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Human papillomavirus infection Apoptotic cleavage of cellular proteins +2 more
		BRF1	Unknown	—	Disgenet	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
		BSND	Unknown	12574213 19646679 9463315 11734858 16849430 11687798	Disgenet	Stimuli-sensing channels
		CARMIL1	Unknown	—	Disgenet	Factors involved in megakaryocyte development and platelet production
		CEP78	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CLCNKA	Unknown	—	Disgenet	Stimuli-sensing channels
		CLDN14	Unknown	12913076 19561606 22246673 10830953 15880785 11163249	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		COX18	Unknown	—	Disgenet	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		DBH	Unknown	—	Disgenet	Tyrosine metabolism Metabolic pathways Catecholamine biosynthesis
		DIAPH1	Unknown	15864301 1350680 17182868 24781755 12021256 12034774 26463574	Disgenet	Focal adhesion Regulation of actin cytoskeleton Cytoskeleton in muscle cells +5 more
		DMD	Unknown	40465716	GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		EDN3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
		F2	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Complement and coagulation cascades +17 more
		GJB2	Unknown	12121355 9358053 10607953 19050930 14505035 12080392 10981905 17036313 20815033 12752120 10982180 12172392 11977173 12121617 15666300 16773579 18985073 11179004 1324944 12189493 10633135 11935342 9139825 10830906 9620796 12176036 10218527 11134236	Disgenet	Transport of connexons to the plasma membrane
		KCNQ4	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		NARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis
		THOC1	Unknown	—	Disgenet	Nucleocytoplasmic transport Spliceosome Transport of Mature mRNA derived from an Intron-Containing Transcript +2 more

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Hearing loss

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