Hearing loss | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SENSORINEURAL HEARING LOSS	C0018784 EFO_1001176	EDN3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction +3 more
		F2	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Complement and coagulation cascades +17 more
		F5	Unknown	—	Disgenet	Complement and coagulation cascades Platelet degranulation Common Pathway of Fibrin Clot Formation +4 more
		FADD	Unknown	—	Disgenet	Platinum drug resistance Apoptosis Apoptosis - multiple species +36 more
		FGF3	Unknown	21480479 18435799 17236138 1846319 18701883 2470007 1922362 15809038 3574458 3023852 18583612 21108385 17656375 17906623 16329133	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +29 more
		GABRA1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GGPS1	Unknown	—	Disgenet	Terpenoid backbone biosynthesis Metabolic pathways Cholesterol biosynthesis +1 more
		HARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		HLA-B	Unknown	—	Disgenet	Endocytosis Phagosome Cellular senescence +24 more
		IFNG	Unknown	—	Disgenet	Proteasome Cytokine-cytokine receptor interaction HIF-1 signaling pathway +33 more
		IL2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor PI3K-Akt signaling pathway +21 more
		IRX5	Unknown	—	Disgenet	—
		ITGA2	Unknown	—	Disgenet	Virion - Rotavirus Phagosome PI3K-Akt signaling pathway +18 more
		KCNE1	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
		LARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		MBL2	Unknown	—	Disgenet	Phagosome Complement and coagulation cascades Staphylococcus aureus infection +3 more
		MRPS7	Unknown	—	Disgenet	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MYO1A	Unknown	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection
		NEFL	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		PEX6	Unknown	—	Disgenet	Peroxisome Peroxisomal protein import
		PLSCR4	Unknown	—	Disgenet	—
		RAB33A	Unknown	—	Disgenet	TBC/RABGAPs RAB geranylgeranylation
		RET	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +6 more
		RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
		SCP2	Unknown	—	Disgenet	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		SLC19A2	Unknown	—	Disgenet	Vitamin digestion and absorption Vitamin B1 (thiamin) metabolism
		SLC52A2	Unknown	—	Disgenet	Vitamin B2 (riboflavin) metabolism
		TBCEL	Unknown	39024449	GWAS catalog	—
		TBX1	Unknown	—	Disgenet	—
		TCF19	Unknown	—	Disgenet	—
		TENM1	Unknown	—	Disgenet	—
		TFAM	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
		TNF	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
		TOP1MT	Unknown	—	Disgenet	—
		TOP3A	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
		USP31	Unknown	—	Disgenet	—
		ZSCAN10	Unknown	—	Disgenet	Transcriptional regulation of pluripotent stem cells

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