Auditory neuropathy | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUDITORY NEUROPATHY	C1852271	AIFM1	Causal	—	Disgenet	Apoptosis Necroptosis
		CACNA1A	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CDH2	Causal	—	Disgenet	Cell adhesion molecules Arrhythmogenic right ventricular cardiomyopathy Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +3 more
		KIF5A	Causal	—	Disgenet	Endocytosis Dopaminergic synapse Motor proteins +12 more
		MFN2	Causal	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MYO7A	Causal	—	Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		NEFL	Causal	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		NOTCH3	Causal	—	Disgenet	Endocrine resistance Notch signaling pathway Apelin signaling pathway +13 more
		OPA1	Causal	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		OTOF	Causal	—	Disgenet	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		SLC52A3	Causal	—	Disgenet	Vitamin digestion and absorption Vitamin B2 (riboflavin) metabolism
		TP63	Causal	—	Disgenet	MicroRNAs in cancer Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic Genes +5 more
		TRPV4	Causal	—	Disgenet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
		TWNK	Causal	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
		WFS1	Causal	—	Disgenet	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
AUDITORY NEUROPATHY SPECTRUM DISORDER	C2732267	AIFM1	Causal	—	Disgenet	Apoptosis Necroptosis
		DIAPH1	Causal	—	Disgenet	Focal adhesion Regulation of actin cytoskeleton Cytoskeleton in muscle cells +5 more
		H1-4	Causal	—	Disgenet	Apoptosis induced DNA fragmentation Formation of Senescence-Associated Heterochromatin Foci (SAHF)
		OTOF	Causal	—	Disgenet	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
		PLP1	Causal	—	Disgenet	—
		SLC52A2	Causal	—	Disgenet	Vitamin B2 (riboflavin) metabolism
		TBC1D24	Causal	—	Disgenet	TBC/RABGAPs
		TUBB4A	Causal	—	Disgenet	Phagosome Gap junction Motor proteins +37 more
AUTOSOMAL DOMINANT AUDITORY NEUROPATHY 1	MONDO:0012196	DIAPH3	Causal	—	ClinVar, GenCC, ClinGen	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins