Peripheral 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
PERIPHERAL NEUROPATHY	C0031117 EFO_0003100	ABCA4	Causal	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		BAG3	Causal	—	Disgenet	Regulation of HSF1-mediated heat shock response
		CHRNG	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
		GDAP1	Causal	—	Disgenet	Class I peroxisomal membrane protein import
		GJB1	Causal	—	Disgenet	Oligomerization of connexins into connexons Gap junction assembly
		HINT1	Causal	—	Disgenet	—
		IGHMBP2	Causal	—	Disgenet	—
		KIF5A	Causal	—	Disgenet	Endocytosis Dopaminergic synapse Motor proteins +12 more
		MFN2	Causal	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MME	Causal	—	Disgenet	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
		MPZ	Causal	—	Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
		NEFL	Causal	24554482	Disgenet, GWAS catalog	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		NGF	Causal	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		NGLY1	Causal	—	Disgenet	Protein processing in endoplasmic reticulum N-glycan trimming in the ER and Calnexin/Calreticulin cycle
		PMP2	Causal	—	Disgenet	—
		PMP22	Causal	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		PRX	Causal	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SH3TC2	Causal	—	Disgenet	—
		SLC12A6	Causal	—	Disgenet	Cation-coupled Chloride cotransporters Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
		SPTLC3	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more