Auditory neuropathy | 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
AUDITORY NEUROPATHY	C1852271 MONDO:0021944	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	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