Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING IMPAIRMENT	C1384666	HOXA2	Unknown	—	Disgenet	—
		IKZF2	Unknown	—	Disgenet	—
		ILDR1	Unknown	—	Disgenet	—
		KARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		LIPT1	Unknown	—	Disgenet	Lipoic acid metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		LMX1A	Unknown	—	Disgenet	—
		LRTOMT	Unknown	—	Disgenet	Steroid hormone biosynthesis Tyrosine metabolism Metabolic pathways +2 more
		MAP3K1	Unknown	—	Disgenet	MAPK signaling pathway Ubiquitin mediated proteolysis Tight junction +11 more
		MECP2	Unknown	—	Disgenet	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more
		MITD1	Unknown	—	Disgenet	—
		MSRB3	Unknown	—	Disgenet	Protein repair
		MYH14	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +5 more
		MYH9	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +8 more
		MYO3A	Unknown	—	Disgenet	Motor proteins
		NAV3	Unknown	—	Disgenet	—
		ND4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		ND5	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		NDP	Unknown	—	Disgenet	—
		NSDHL	Unknown	—	Disgenet	Steroid biosynthesis Metabolic pathways Cholesterol biosynthesis
		NTF3	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +4 more
		OTOA	Unknown	—	Disgenet	Post-translational modification: synthesis of GPI-anchored proteins
		OTOGL	Unknown	—	Disgenet	—
		OXR1	Unknown	—	Disgenet	—
		PAX3	Unknown	—	Disgenet	Transcriptional misregulation in cancer HATs acetylate histones
		PCDH15	Unknown	—	Disgenet	—
		PDZD7	Unknown	—	Disgenet	—
		PJVK	Unknown	—	Disgenet	—
		PNPT1	Unknown	—	Disgenet	RNA degradation
		POGZ	Unknown	—	Disgenet	—
		POLD3	Unknown	—	Disgenet	DNA replication Base excision repair Nucleotide excision repair +19 more
		POLR1C	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +7 more
		POLR1D	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +7 more
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		POMT1	Unknown	—	Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		PTPRQ	Unknown	—	Disgenet	—
		PTPRS	Unknown	—	Disgenet	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases Synaptic adhesion-like molecules
		RBFOX1	Unknown	—	Disgenet	—
		RDX	Unknown	—	Disgenet	Tight junction Regulation of actin cytoskeleton Proteoglycans in cancer +2 more
		RPGR	Unknown	—	Disgenet	—
		SEMA3F	Unknown	—	Disgenet	Axon guidance
		SERPINB6	Unknown	—	Disgenet	Amoebiasis Neutrophil degranulation Dissolution of Fibrin Clot
		SIK3	Unknown	—	Disgenet	—
		SIX1	Unknown	—	Disgenet	Transcriptional misregulation in cancer
		SLC26A5	Unknown	—	Disgenet	—
		SLC29A3	Unknown	—	Disgenet	Alcoholism Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		SLC33A1	Unknown	—	Disgenet	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Transport of vitamins, nucleosides, and related molecules +1 more
		SLITRK6	Unknown	—	Disgenet	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases
		SOD1	Unknown	—	Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		SOX10	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SPATC1L	Unknown	—	Disgenet	—
HEARING LOSS	EFO_0004238 MESH:D034381	ILDR1	Unknown	34847940 35661827 37165447	GWAS catalog	—
		LMX1A	Unknown	29971487 34847940 35661827 37165447	CTD, GWAS catalog	—
		NTF3	Unknown	18024279	CTD	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +4 more
		PCDH15	Unknown	30029624	CTD	—
		RPGR	Unknown	12920075	CTD	—
		SLC26A5	Unknown	34273409 34737426 34847940 35661827	CTD, GWAS catalog	—
		SLC29A3	Unknown	20140240	CTD	Alcoholism Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		SLC33A1	Unknown	22243965	CTD	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Transport of vitamins, nucleosides, and related molecules +1 more
		SOD1	Unknown	11474137	CTD	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
HEARING LOSS DISORDER	MONDO:0005365	IKZF2	Unknown	—	GenCC	—
		PNPT1	Unknown	—	GenCC	RNA degradation
		POLD3	Unknown	—	GenCC	DNA replication Base excision repair Nucleotide excision repair +19 more
		SIK3	Unknown	—	GenCC	—
		SPATC1L	Unknown	30177775	GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	LMX1A	Unknown	—	GenCC	—
		LRTOMT	Unknown	20301607 24148127	GWAS catalog	Steroid hormone biosynthesis Tyrosine metabolism Metabolic pathways +2 more
		MYO3A	Unknown	20301607 24148127	ClinVar	Motor proteins
		PNPT1	Unknown	23084290	ClinVar	RNA degradation
		RDX	Unknown	20301607 24148127	CTD	Tight junction Regulation of actin cytoskeleton Proteoglycans in cancer +2 more
		SERPINB6	Unknown	24148127	GWAS catalog	Amoebiasis Neutrophil degranulation Dissolution of Fibrin Clot
		SLC26A5	Unknown	20301607 24148127	ClinVar	—
		SLITRK6	Unknown	23543054	GWAS catalog	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases
SENSORINEURAL HEARING LOSS	C0018784	KARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		LMX1A	Unknown	—	Disgenet	—
		MYH14	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +5 more
		MYH9	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +8 more
		MYO3A	Unknown	—	Disgenet	Motor proteins
		POGZ	Unknown	—	Disgenet	—
		PTPRQ	Unknown	—	Disgenet	—
UNILATERAL DEAFNESS	C2607947	SIX1	Unknown	10512683 19726885 7720577 15141091 10777717 14704789 19389353 19726883 17637804 9770533 10773454 21700001 8617500 16670092 12368906 15226428 22267199 11262400 12843324 14628042 11734542	Disgenet	Transcriptional misregulation in cancer

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Hearing loss

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