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	—
		AFG2B	Unknown	—	Disgenet	—
		ATP2B2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		CABP2	Unknown	—	Disgenet	—
		CEACAM16	Unknown	—	Disgenet	—
		CLDN9	Unknown	—	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		CLIC5	Unknown	—	Disgenet	—
		GAS2	Unknown	—	Disgenet	Caspase-mediated cleavage of cytoskeletal proteins
		GIPC3	Unknown	—	Disgenet	—
		GPSM2	Unknown	—	Disgenet	G alpha (i) signalling events
		GRXCR1	Unknown	—	Disgenet	—
		ILDR1	Unknown	—	Disgenet	—
		KARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		MSRB3	Unknown	—	Disgenet	Protein repair
		MYO3A	Unknown	—	Disgenet	Motor proteins
		OTOA	Unknown	—	Disgenet	Post-translational modification: synthesis of GPI-anchored proteins
		OTOGL	Unknown	—	Disgenet	—
		PCDH15	Unknown	—	Disgenet	—
HEARING LOSS	EFO_0004238 MESH:D034381	GJB2	Causal	35661827	GWAS catalog	Transport of connexons to the plasma membrane
		MSRB3	Causal	21782914	CTD	Protein repair
		CDH23	Unknown	34847940 35661827 37165447	GWAS catalog	—
		COCH	Unknown	35661827	GWAS catalog	—
		COL11A1	Unknown	39024449	GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		EYA4	Unknown	34847940 35661827 37165447 39024449	GWAS catalog	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		GAS2	Unknown	39024449	GWAS catalog	Caspase-mediated cleavage of cytoskeletal proteins
		ILDR1	Unknown	34847940 35661827 37165447	GWAS catalog	—
		MYO6	Unknown	35661827 36788145	GWAS catalog	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
		PCDH15	Unknown	30029624	CTD	—
HEARING LOSS DISORDER	MONDO:0005365	FOXI1	Unknown	29242249 9843211 16932748 41833579 15173882 8825632 7957066 12642503 17503324	ClinGen, GWAS catalog	—
		GAS2	Unknown	—	GenCC	Caspase-mediated cleavage of cytoskeletal proteins
		GJB2	Unknown	—	ClinGen	Transport of connexons to the plasma membrane
		KCNQ4	Unknown	—	GenCC	Cholinergic synapse Voltage gated Potassium channels
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 82	MONDO:0030719	ATP2B2	Causal	—	ClinVar, GenCC	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
HEARING LOSS, AUTOSOMAL DOMINANT 90	MONDO:0958232	MYO3A	Causal	—	ClinVar, GenCC	Motor proteins
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	BSND	Causal	20301607	GWAS catalog	Stimuli-sensing channels
		CABP2	Causal	22981119	Orphanet	—
		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
		CLIC5	Causal	24781754	CTD	—
		GIPC3	Causal	24148127	GWAS catalog	—
		GJB2	Causal	20301607 24148127	GWAS catalog	Transport of connexons to the plasma membrane
		GPSM2	Causal	20301607 24148127	Orphanet	G alpha (i) signalling events
		GRXCR1	Causal	20301607 24148127	GWAS catalog	—
		ILDR1	Causal	24148127	Disgenet	—
		KARS1	Causal	23768514	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		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)
		OTOA	Causal	20301607 24148127	GWAS catalog	Post-translational modification: synthesis of GPI-anchored proteins
		OTOF	Causal	20301607 24148127	Orphanet	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		OTOG	Causal	23122587	GWAS catalog	—
		OTOGL	Causal	23122586	CTD	—
		PCDH15	Causal	20301607 24148127	GWAS catalog	—
		CEACAM16	Unknown	29703829	GWAS catalog	—
		MYO3A	Unknown	20301607 24148127	ClinVar	Motor proteins
		MYO6	Unknown	20301607 24148127	Orphanet	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
HEARING LOSS, AUTOSOMAL RECESSIVE 110	MONDO:0054860	COCH	Causal	21073934 282874 29449721 31126177	ClinVar, GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE 113	MONDO:0032732	CEACAM16	Causal	29703829 30514912	ClinVar, GWAS catalog	—
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 119	MONDO:0030480	AFG2B	Causal	34626583	ClinGen, ClinVar, Disgenet	—
HEARING LOSS, AUTOSOMAL RECESSIVE 125	MONDO:0971152	GAS2	Causal	—	ClinVar, GenCC	Caspase-mediated cleavage of cytoskeletal proteins
SENSORINEURAL HEARING LOSS	C0018784 EFO_1001176	BSND	Unknown	12574213 19646679 9463315 11734858 16849430 11687798	Disgenet	Stimuli-sensing channels
		CDH23	Unknown	17850630 21228398 11138008 15358736 12522556 17805295 21940737 11090341 12407180 19270079 12075507 12485990 15537665 11857743 11138009 20399731 2706105 23135401 15829536 12910270 20639393	Disgenet	—
		CLDN14	Unknown	12913076 19561606 22246673 10830953 15880785 11163249	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
		COL11A1	Unknown	39024449	GWAS catalog, Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		DIAPH1	Unknown	15864301 1350680 17182868 24781755 12021256 12034774 26463574	Disgenet	Focal adhesion Regulation of actin cytoskeleton Cytoskeleton in muscle cells +5 more
		EYA4	Unknown	39024449	GWAS catalog, Disgenet	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		GAS2	Unknown	39024449	GWAS catalog	Caspase-mediated cleavage of cytoskeletal proteins
		GATA3	Unknown	—	Disgenet	Th1 and Th2 cell differentiation Th17 cell differentiation Parathyroid hormone synthesis, secretion and action +6 more
		GIPC3	Unknown	11836571 17690910 21660509 21326233 9286457	Disgenet	—
		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
		GPSM2	Unknown	—	Disgenet	G alpha (i) signalling events
		KARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		KCNQ4	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		LRP2	Unknown	—	Disgenet	Hedgehog signaling pathway Thyroid hormone synthesis Cholesterol metabolism +4 more
		MYO15A	Unknown	—	Disgenet	Motor proteins
		MYO3A	Unknown	—	Disgenet	Motor proteins
		MYO6	Unknown	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection Salmonella infection +2 more
		MYO7A	Unknown	—	Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
UNILATERAL DEAFNESS	C2607947	COL4A5	Unknown	1598909 8651292 2004755 1689491 1352287 7706490 1330889 2349482 25575550 1635357 1783380 8596916 9150741 21729787 1577459 1453602 7987301 12796257 6650503 8120014 1672282 8281136 1363780 8662866 8171024 8825605 1376965 8132760 1733850 8356449 16133187	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more

«‹12 3…8 ›»

Hearing loss

Bookmark This Disease