Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING LOSS, AUTOSOMAL DOMINANT 74	MONDO:0029137	PDE1C	Causal	—	ClinVar, GenCC	Purine metabolism Metabolic pathways Calcium signaling pathway +5 more
HEARING LOSS, AUTOSOMAL DOMINANT 75	MONDO:0032911	TRRAP	Causal	—	ClinVar, GenCC	ATP-dependent chromatin remodeling Human T-cell leukemia virus 1 infection Formation of the beta-catenin:TCF transactivating complex +1 more
HEARING LOSS, AUTOSOMAL DOMINANT 77	MONDO:0030058	ABCC1	Causal	30029678 31273342 31448785	ClinVar, Disgenet	Antifolate resistance ABC transporters Sphingolipid signaling pathway +7 more
HEARING LOSS, AUTOSOMAL DOMINANT 78	MONDO:0033665	SLC12A2	Causal	32294086	ClinVar, GWAS catalog	Salivary secretion Pancreatic secretion Vibrio cholerae infection +1 more
HEARING LOSS, AUTOSOMAL DOMINANT 79	MONDO:0033668	SCD5	Causal	27288323 31972369 33229591	CTD, ClinVar	Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism +5 more
HEARING LOSS, AUTOSOMAL DOMINANT 80	MONDO:0030998	GREB1L	Causal	29955957 32585897	ClinVar, GWAS catalog	—
HEARING LOSS, AUTOSOMAL DOMINANT 82	MONDO:0030719	ATP2B2	Causal	—	ClinVar, GenCC	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
HEARING LOSS, AUTOSOMAL DOMINANT 83	MONDO:0030723	MAP1B	Causal	—	ClinVar	Viral life cycle - HIV-1
HEARING LOSS, AUTOSOMAL DOMINANT 84	MONDO:0030724	ATP11A	Causal	—	ClinVar, GenCC	Efferocytosis Neutrophil degranulation Ion transport by P-type ATPases
HEARING LOSS, AUTOSOMAL DOMINANT 85	MONDO:0859366	USP48	Causal	—	ClinVar, GenCC	Ub-specific processing proteases
HEARING LOSS, AUTOSOMAL DOMINANT 86	MONDO:0859524	THOC1	Causal	—	ClinVar	Nucleocytoplasmic transport Spliceosome Transport of Mature mRNA derived from an Intron-Containing Transcript +2 more
HEARING LOSS, AUTOSOMAL DOMINANT 87	MONDO:0859525	PI4KB	Causal	31640787 33358777	ClinVar, GenCC	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +1 more
HEARING LOSS, AUTOSOMAL DOMINANT 88	MONDO:0859527	EPHA10	Causal	—	ClinVar, GenCC	EPH-Ephrin signaling EPHA-mediated growth cone collapse EPH-ephrin mediated repulsion of cells
HEARING LOSS, AUTOSOMAL DOMINANT 89	MONDO:0859528	ATOH1	Causal	—	ClinVar, GenCC	—
HEARING LOSS, AUTOSOMAL DOMINANT 90	MONDO:0958232	MYO3A	Causal	—	ClinVar, GenCC	Motor proteins
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	CABP2	Causal	22981119	Orphanet	—
		CLIC5	Causal	24781754	CTD	—
		ESPN	Causal	20301607 24148127	GWAS catalog	—
		GIPC3	Causal	24148127	GWAS catalog	—
		GPSM2	Causal	20301607 24148127	Orphanet	G alpha (i) signalling events
		GRXCR1	Causal	20301607 24148127	GWAS catalog	—
		GRXCR2	Causal	24619944	GWAS catalog	—
		ILDR1	Causal	24148127	Disgenet	—
		KARS1	Causal	23768514	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		MPZL2	Causal	29961571	Disgenet	—
		OTOA	Causal	20301607 24148127	GWAS catalog	Post-translational modification: synthesis of GPI-anchored proteins
		OTOGL	Causal	23122586	CTD	—
		PCDH15	Causal	20301607 24148127	GWAS catalog	—
		PDZD7	Causal	—	ClinGen, GenCC	—
		PJVK	Causal	20301607 24148127	ClinGen	—
		TMC1	Causal	20301607 24148127	Disgenet	—
		TPRN	Causal	20301607 24148127	CTD	—
		WHRN	Causal	20301607 24148127	Disgenet	—
HEARING LOSS, AUTOSOMAL RECESSIVE 106	MONDO:0033198	EPS8L2	Causal	23918390 26282398 28281779	ClinVar, GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 107	MONDO:0033199	WBP2	Causal	26881968	ClinVar, GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 109	MONDO:0033202	ESRP1	Causal	29107558	ClinVar	Signaling by BRAF and RAF fusions FGFR2 alternative splicing
HEARING LOSS, AUTOSOMAL RECESSIVE 111	MONDO:0029142	MPZL2	Causal	—	ClinVar, GenCC	—
HEARING LOSS, AUTOSOMAL RECESSIVE 113	MONDO:0032732	CEACAM16	Causal	29703829 30514912	ClinVar, GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 114	MONDO:0032761	GRAP	Causal	30610177	CTD, ClinVar	Signaling by SCF-KIT
HEARING LOSS, AUTOSOMAL RECESSIVE 115	MONDO:0032762	SPNS2	Causal	25356849	CTD, ClinVar	—
HEARING LOSS, AUTOSOMAL RECESSIVE 116	MONDO:0033670	CLDN9	Causal	31175426	ClinVar, GWAS catalog	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
HEARING LOSS, AUTOSOMAL RECESSIVE 117	MONDO:0030905	CLRN2	Causal	33496845	ClinVar, GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 119	MONDO:0030480	AFG2B	Causal	34626583	ClinGen, ClinVar, Disgenet	—
HEARING LOSS, AUTOSOMAL RECESSIVE 120	MONDO:0859374	MINAR2	Causal	—	ClinVar, GenCC	—
HEARING LOSS, AUTOSOMAL RECESSIVE 121	MONDO:0957825	GPR156	Causal	—	ClinVar, GenCC	Neuroactive ligand-receptor interaction
HEARING LOSS, AUTOSOMAL RECESSIVE 122	MONDO:0958228	TMTC4	Causal	—	ClinVar	—
HEARING LOSS, AUTOSOMAL RECESSIVE 123	MONDO:0958277	STX4	Causal	36355422	ClinVar, GWAS catalog	SNARE interactions in vesicular transport Vasopressin-regulated water reabsorption Disinhibition of SNARE formation +3 more
HEARING LOSS, AUTOSOMAL RECESSIVE 125	MONDO:0971152	GAS2	Causal	—	ClinVar, GenCC	Caspase-mediated cleavage of cytoskeletal proteins
HEARING LOSS, AUTOSOMAL RECESSIVE 57	MONDO:0033201	PDZD7	Causal	20440071 26416264 26849169 29048736 30622556 6416264	CTD, ClinVar	—
HEARING LOSS, AUTOSOMAL RECESSIVE 94	MONDO:0032749	NARS2	Causal	25807530	CTD, ClinVar	Aminoacyl-tRNA biosynthesis

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Hearing loss

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