Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING IMPAIRMENT	C1384666	ABHD12	Unknown	—	Disgenet	Arachidonate production from DAG
		AFG2B	Unknown	—	Disgenet	—
		APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ATP2B2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		ATP6V1B1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		B3GNT4	Unknown	—	Disgenet	Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways Keratan sulfate biosynthesis +1 more
		BCL2L1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Platinum drug resistance Ras signaling pathway +28 more
		BDP1	Unknown	—	Disgenet	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter
		BMP2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +5 more
		C10ORF105	Unknown	—	Disgenet	—
		CABP2	Unknown	—	Disgenet	—
		CACNA1D	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CACNA2D2	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CDK20	Unknown	—	Disgenet	—
		CEACAM16	Unknown	—	Disgenet	—
		CHSY1	Unknown	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Chondroitin sulfate biosynthesis +1 more
		CLCC1	Unknown	—	Disgenet	—
		CLDN9	Unknown	—	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		CLIC5	Unknown	—	Disgenet	—
		COL11A2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		COL4A3	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		COL4A4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		COL9A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		COL9A3	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		CYTB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		DHX30	Unknown	—	Disgenet	—
		DIABLO	Unknown	—	Disgenet	Apoptosis Apoptosis - multiple species Release of apoptotic factors from the mitochondria +4 more
		DIAPH3	Unknown	—	Disgenet	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins
		DMBX1	Unknown	—	Disgenet	—
		DNMT1	Unknown	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		DSPP	Unknown	—	Disgenet	ECM-receptor interaction ECM proteoglycans
		ERAL1	Unknown	—	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		ERCC6	Unknown	—	Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ESRRB	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Nuclear Receptor transcription pathway
		EYA1	Unknown	—	Disgenet	Transcriptional misregulation in cancer Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		FASN	Unknown	—	Disgenet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +8 more
		FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		FOXP4	Unknown	—	Disgenet	—
		GAS2	Unknown	—	Disgenet	Caspase-mediated cleavage of cytoskeletal proteins
		GIPC3	Unknown	—	Disgenet	—
		GJB3	Unknown	—	Disgenet	Gap junction assembly
		GJB6	Unknown	—	Disgenet	Gap junction assembly
		GPSM2	Unknown	—	Disgenet	G alpha (i) signalling events
		GRHL2	Unknown	—	Disgenet	—
		GRXCR1	Unknown	—	Disgenet	—
		GSDME	Unknown	—	Disgenet	Cytosolic DNA-sensing pathway
		HGF	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +29 more
		HIVEP1	Unknown	—	Disgenet	—
HEARING LOSS	MESH:D034381 EFO_0004238	APOE	Unknown	19738398	CTD	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		BCL2L1	Unknown	17697574	CTD	EGFR tyrosine kinase inhibitor resistance Platinum drug resistance Ras signaling pathway +28 more
		C10ORF105	Unknown	35661827	GWAS catalog	—
		CACNA2D2	Unknown	27798183	CTD	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		COL11A2	Unknown	35661827	GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		COL9A3	Unknown	35661827 37165447	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		DNMT1	Unknown	21532572	CTD	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		ERCC6	Unknown	25440059	CTD	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		GAS2	Unknown	39024449	GWAS catalog	Caspase-mediated cleavage of cytoskeletal proteins
		GJB6	Unknown	35661827	GWAS catalog	Gap junction assembly
		GSDME	Unknown	21782914	CTD	Cytosolic DNA-sensing pathway
HEARING LOSS DISORDER	MONDO:0005365	GAS2	Unknown	—	GenCC	Caspase-mediated cleavage of cytoskeletal proteins
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	BDP1	Unknown	24312468	CTD	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter
		CEACAM16	Unknown	29703829	GWAS catalog	—
		COL11A2	Unknown	20301607 24148127	GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		ESRRB	Unknown	20301607 24148127	GWAS catalog	Signaling pathways regulating pluripotency of stem cells Nuclear Receptor transcription pathway
		GJB3	Unknown	10587579	GWAS catalog	Gap junction assembly
		GJB6	Unknown	20301607 24148127	Orphanet	Gap junction assembly
		HGF	Unknown	20301607 24148127	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +29 more
HEARING LOSS, AUTOSOMAL RECESSIVE 112	MONDO:0032639	BDP1	Unknown	—	ClinVar, GenCC	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter
SENSORINEURAL HEARING LOSS	C0018784 EFO_1001176	APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		COL11A2	Unknown	7559422 9188673 2591970 16637051 16609882 8431643 14234962 2321911 25633957 15558753 16033917 8838804 7859284 11289713 9805126 22246659 10677296 2760050 8486632 10581026 15372529 1906426 7833911 9506662	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		COL9A1	Unknown	23967202 16909383 21421862 31315069	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		CYTB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		FOXP4	Unknown	—	Disgenet	—
		GAS2	Unknown	39024449	GWAS catalog	Caspase-mediated cleavage of cytoskeletal proteins
		GIPC3	Unknown	11836571 17690910 21660509 21326233 9286457	Disgenet	—
		GJB3	Unknown	10587579 9704026 12452892 9843210 19050930 14583444 9843209 11309368 10757647 11175305 16549784 17446259 10594760 10798362 19755382 12019212 1828175 12165562 9347797	Disgenet	Gap junction assembly
		GPSM2	Unknown	—	Disgenet	G alpha (i) signalling events
		GSDME	Unknown	—	Disgenet	Cytosolic DNA-sensing pathway
		HGF	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +29 more

«‹12 3…7 ›»

Hearing loss

Bookmark This Disease