Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUDITORY NEUROPATHY	C1852271 MONDO:0021944	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
		DIAPH3	Unknown	20624953 23441200	ClinGen, Disgenet, Orphanet	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins
		FDXR	Unknown	—	Disgenet	Pregnenolone biosynthesis Endogenous sterols Electron transport from NADPH to Ferredoxin +1 more
		RAB33A	Unknown	—	Disgenet	TBC/RABGAPs RAB geranylgeranylation
		TIMM8A	Unknown	—	Disgenet	—
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
		CEP135	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		ND6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		OPA1	Unknown	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		RAB33A	Unknown	—	Disgenet	TBC/RABGAPs RAB geranylgeranylation
		RAB9B	Unknown	—	Disgenet	Salmonella infection Measles Neutrophil degranulation +3 more
		SLC17A8	Unknown	—	Disgenet	Synaptic vesicle cycle Retrograde endocannabinoid signaling Glutamatergic synapse +3 more
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1	609129	DIAPH3	Unknown	—	HPO	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2	620384 C5830542 MONDO:0957279	ATP11A	Unknown	35278131 36300302	ClinVar, Disgenet, HPO	Efferocytosis Neutrophil degranulation Ion transport by P-type ATPases
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3	619832 C5676964 MONDO:0859235	TMEM43	Unknown	—	ClinVar, Disgenet, GenCC, HPO	Cytoskeleton in muscle cells
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1	C1836743 MESH:C563790	DIAPH3	Unknown	—	CTD, Disgenet	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins
AUTOSOMAL DOMINANT AUDITORY NEUROPATHY 1	MONDO:0012196	DIAPH3	Causal	—	ClinVar, GenCC, ClinGen	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins

Auditory neuropathy

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