Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEARING LOSS	EFO_0004238 MESH:D034381	NUCKS1	Unknown	35661827	GWAS catalog	—
		NUP62	Unknown	34594039	GWAS catalog	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +25 more
		OLFM4	Unknown	34847940	GWAS catalog	Neutrophil degranulation
		OR4A5	Unknown	34847940	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
		OR4C46	Unknown	35661827	GWAS catalog	Olfactory transduction Olfactory Signaling Pathway
		OTUD1	Unknown	37062025	GWAS catalog	—
		P3R3URF-PIK3R3	Unknown	36788145 37165447	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +101 more
		PAFAH1B1	Unknown	35661827	GWAS catalog	Ether lipid metabolism Metabolic pathways Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal +13 more
		PDCD6	Unknown	36788145	GWAS catalog	—
		PDZD2	Unknown	37062025	GWAS catalog	—
		PELO	Unknown	34847940	GWAS catalog	mRNA surveillance pathway
		PHLDB1	Unknown	34847940 35661827 37165447	GWAS catalog	—
		PIK3R3	Unknown	36788145 37165447 39024449	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +116 more
		PLEKHG4B	Unknown	34847940	GWAS catalog	—
		PMPCB	Unknown	35661827	GWAS catalog	Processing of SMDT1
		PNP	Unknown	37062025	GWAS catalog	Purine metabolism Nicotinate and nicotinamide metabolism Metabolic pathways +4 more
		PSMC2	Unknown	35661827	GWAS catalog	Proteasome Alzheimer disease Parkinson disease +58 more
		PTK2	Unknown	35661827 37165447	GWAS catalog	Endocrine resistance ErbB signaling pathway Chemokine signaling pathway +37 more
		PTPRK	Unknown	20068591	GWAS catalog	EGFR downregulation
		RAB29	Unknown	35661827	GWAS catalog	RAB geranylgeranylation
		RNASE10	Unknown	37062025	GWAS catalog	—
		RPL7	Unknown	37165447	GWAS catalog	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RREB1	Unknown	39024449	GWAS catalog	—
		SCART1	Unknown	37062025	GWAS catalog	—
		SH3PXD2B	Unknown	19669234	CTD	—
		SLC22A7	Unknown	36788145	GWAS catalog	Bile secretion Organic anion transport
		SLC25A10	Unknown	35661827	GWAS catalog	Proximal tubule bicarbonate reclamation Sulfide oxidation to sulfate Organic anion transporters +1 more
		SLC26A4	Unknown	22116360 29320412	CTD	Thyroid hormone synthesis Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)
		SLC35B3	Unknown	37062025	GWAS catalog	Transport and synthesis of PAPS Transport of nucleotide sugars
		SLC6A14	Unknown	35661827	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Variant SLC6A14 may confer susceptibility towards obesity
		SMIM38	Unknown	35661827	GWAS catalog	—
		SNAP91	Unknown	35661827	GWAS catalog	Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		SOX11	Unknown	37165447	GWAS catalog	—
		SPDL1	Unknown	34847940	GWAS catalog	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +3 more
		SPTBN1	Unknown	34847940 35661827 37165447	GWAS catalog	Cytoskeleton in muscle cells NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins +2 more
		SVIP	Unknown	39024449	GWAS catalog	Protein processing in endoplasmic reticulum Neutrophil degranulation
		SYCE3	Unknown	35661827	GWAS catalog	—
		SYNJ2	Unknown	34847940 35661827 36788145 37165447	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		TBC1D24	Unknown	35661827	GWAS catalog	TBC/RABGAPs
		TBL2	Unknown	36788145 37165447	GWAS catalog	—
		TCERG1L	Unknown	34262104	GWAS catalog	—
		TCF7L2	Unknown	37062025	GWAS catalog	Wnt signaling pathway Hippo signaling pathway Adherens junction +26 more
		TFDP2	Unknown	37062025	GWAS catalog	Cell cycle Activation of NOXA and translocation to mitochondria Transcription of E2F targets under negative control by DREAM complex +13 more
		THRB	Unknown	39024449	GWAS catalog	Neuroactive ligand-receptor interaction Hormone signaling Thyroid hormone signaling pathway +2 more
		TMEM213	Unknown	35661827	GWAS catalog	—
		TMPRSS3	Unknown	35661827 39024449	GWAS catalog	—
		TMPRSS9	Unknown	34847940 35661827 37165447	GWAS catalog	—
		TNKS	Unknown	37062025	GWAS catalog	TCF dependent signaling in response to WNT Degradation of AXIN XAV939 inhibits tankyrase, stabilizing AXIN +2 more
		TRIM48	Unknown	34847940	GWAS catalog	Interferon gamma signaling
		TRIOBP	Unknown	34847940 35661827 37165447	GWAS catalog	—
HEARING LOSS, AUTOSOMAL RECESSIVE	MONDO:0019588	TBC1D24	Unknown	24387994	Disgenet	TBC/RABGAPs
SENSORINEURAL HEARING LOSS	EFO_1001176 C0018784	PIK3R3	Unknown	39024449	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +116 more
		RREB1	Unknown	39024449	GWAS catalog	—
		SLC26A4	Unknown	9500541 15531480 9398842 9618166 12788906 17690912 19287372 12920581 17940114 10861298 20442411 11317356 18310264 11932316 10449762 11274445 10190331 10878664 10902795 10404839 15679828 18285825 9618167 12107249 17503324 19426954 12354788 16570074	Disgenet	Thyroid hormone synthesis Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)
		SPTBN1	Unknown	39024449	GWAS catalog	Cytoskeleton in muscle cells NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins +2 more
		SVIP	Unknown	39024449	GWAS catalog	Protein processing in endoplasmic reticulum Neutrophil degranulation
		THRB	Unknown	39024449	GWAS catalog	Neuroactive ligand-receptor interaction Hormone signaling Thyroid hormone signaling pathway +2 more
		TMPRSS3	Unknown	39024449 11462234 11137999 11907649 12920079 23255163 16021470 11424922 21454591 12393794	GWAS catalog, Disgenet	—

«‹1…3 456 7 ›»

Hearing loss

Bookmark This Disease