Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CHARCOT-MARIE-TOOTH DISEASE	C0007959 MONDO:0015626PS118220MESH:D002607	HARS1	Unknown	—	ClinVar, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		HK1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more
		HOXD10	Unknown	15146389	CTD, Disgenet	Proteoglycans in cancer MicroRNAs in cancer
		HSPB3	Unknown	—	ClinVar	—
		IFRD1	Unknown	—	Disgenet	—
		ITPR3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +52 more
		JAG1	Unknown	—	Disgenet	Endocrine resistance Notch signaling pathway Apelin signaling pathway +12 more
		JPH1	Unknown	—	Disgenet	—
		LAMA2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		MCM3AP	Unknown	—	ClinVar	—
		MED25	Unknown	—	ClinVar, Disgenet	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
		MME	Unknown	35212467	CTD, ClinVar, Disgenet	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
		MPV17	Unknown	—	ClinVar	Peroxisome Peroxisomal protein import
		MYH14	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +5 more
		NEFH	Unknown	—	ClinVar	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		NGF	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +18 more
		NRG1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Amyotrophic lateral sclerosis +18 more
		PDK3	Unknown	—	ClinVar, Disgenet	Diabetic cardiomyopathy Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid
		PLD3	Unknown	—	Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways +1 more
		PMP2	Unknown	26257172 26828946 27009151 28447247 30249361 31412900 32277537 3323886 37238449	ClinGen, Disgenet, GWAS catalog	—
		POLG	Unknown	—	Disgenet	Base excision repair
		POLR2F	Unknown	—	Disgenet	RNA polymerase Nucleotide excision repair Cytosolic DNA-sensing pathway +34 more
		POLR3B	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
		PRPS1	Unknown	17701896 17701900 22246954 8498830	Disgenet	Pentose phosphate pathway Purine metabolism Metabolic pathways +3 more
		PTRH2	Unknown	—	ClinVar	Ub-specific processing proteases
		RAB33A	Unknown	—	Disgenet	TBC/RABGAPs RAB geranylgeranylation
		SCN11A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		SCN9A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SDHC	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SEMA5A	Unknown	—	Disgenet	Axon guidance Other semaphorin interactions Defective B3GALTL causes Peters-plus syndrome (PpS) +1 more
		SEPTIN9	Unknown	—	Disgenet	Bacterial invasion of epithelial cells Shigellosis
		SETX	Unknown	—	ClinVar, Disgenet	Amyotrophic lateral sclerosis
		SGPL1	Unknown	—	ClinVar	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		SIGMAR1	Unknown	—	ClinVar	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		SLC25A46	Unknown	26168012	CTD, Disgenet	—
		SLC5A7	Unknown	—	Disgenet	Cholinergic synapse Choline metabolism in cancer Acetylcholine Neurotransmitter Release Cycle +2 more
		SORD	Unknown	32367058 33875678 34995833 9604875	CTD, ClinGen, Disgenet, GenCC	Pentose and glucuronate interconversions Fructose and mannose metabolism Metabolic pathways +2 more
		SOX10	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SURF1	Unknown	—	Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
		TRIM2	Unknown	—	ClinVar, Disgenet	Interferon gamma signaling
		WARS1	Unknown	—	ClinVar	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		WNK1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Stimuli-sensing channels
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	118300	PMP22	Unknown	—	HPO	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2K	MONDO:0011916	JPH1	Unknown	—	ClinVar	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 1A	101081 MONDO:0007309	PMP22	Unknown	20301384	ClinGen, GenCC, Orphanet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 2	MONDO:0018993	DNAJB2	Unknown	—	ClinVar	Protein processing in endoplasmic reticulum
CHARCOT-MARIE-TOOTH DISEASE TYPE 2	MONDO:0018993	IGHMBP2	Unknown	—	ClinVar	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B2	MONDO:0011570	MED25	Unknown	20301462	ClinGen, ClinVar, Orphanet	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
CHARCOT-MARIE-TOOTH DISEASE TYPE 2P	300319	LRSAM1	Unknown	20301462	Orphanet	Antigen processing: Ubiquitination & Proteasome degradation
CHARCOT-MARIE-TOOTH DISEASE TYPE 2S	443073	IGHMBP2	Unknown	25439726	Orphanet	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 3	MONDO:0007790	EGR2	Unknown	—	GenCC	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
		PMP22	Unknown	18698610 12090401	GWAS catalog	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		PRX	Unknown	—	GenCC	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 4	C4082197	IGHMBP2	Unknown	—	Disgenet	—
		LRSAM1	Unknown	—	Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
		PLD3	Unknown	—	Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways +1 more
		SEPTIN9	Unknown	—	Disgenet	Bacterial invasion of epithelial cells Shigellosis
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3	C3695063	PPP6R2	Unknown	—	Disgenet	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 4E	99951 MONDO:0011527	EGR2	Unknown	20301641	ClinVar, GenCC, Orphanet	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1	605588	LMNA	Unknown	—	HPO	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2	605589	MED25	Unknown	—	HPO	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC	616924 C4310790 OMIM:616924	NEFH	Unknown	—	CTD, Disgenet, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	C1842983	JPH1	Unknown	—	Disgenet	—
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	614436 C3280797 OMIM:614436	LRSAM1	Unknown	—	CTD, Disgenet, HPO	Antigen processing: Ubiquitination & Proteasome degradation
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R	615490 C3809655 OMIM:615490	TRIM2	Unknown	—	CTD, Disgenet, HPO	Interferon gamma signaling
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	616155 C4015349 OMIM:616155	IGHMBP2	Unknown	—	CTD, Disgenet, HPO	—
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T	C4015635 617017 OMIM:617017	DNAJB2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T	C4015635 617017 OMIM:617017	MME	Unknown	—	CTD, Disgenet, HPO	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U	C4084821	POLG	Unknown	—	Disgenet	Base excision repair
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	616625 OMIM:616625	HARS1	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A	118220	PMP22	Unknown	—	HPO	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D	607678	EGR2	Unknown	—	HPO	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E	C3495591 MESH:C566136	PMP2	Unknown	—	Disgenet	—
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E	C3495591 MESH:C566136	PMP22	Unknown	—	CTD, Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I	619742 C5676914	POLR3B	Unknown	—	Disgenet, HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	C3540453 614895 OMIM:614895	PLD3	Unknown	—	Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways +1 more
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	C3540453 614895 OMIM:614895	PRX	Unknown	—	CTD, Disgenet, HPO	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K	616684 OMIM:616684	SURF1	Unknown	—	CTD, HPO	TP53 Regulates Metabolic Genes Respiratory electron transport
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B	C1847902	SCN9A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D	C1843075	SDHC	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	C1843247 MESH:C537985	EGR2	Unknown	—	CTD, Disgenet	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E	C2931686	PMP22	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1	C1854154 MESH:C537990	LMNA	Unknown	11799477 17347251 18549403	CTD, Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2	C1854150 MESH:C537991	MED25	Unknown	—	CTD, Disgenet	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	C3888087	SDHC	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2K	MESH:C535418	JPH1	Unknown	—	CTD	—
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM	C1843183 MESH:C539595	LRSAM1	Unknown	22781092 27686364	CTD, Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E	C4721437 MESH:C535301	EGR2	Unknown	—	CTD, Disgenet, ClinGen	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
DNAJ HEAT SHOCK PROTEIN FAMILY MEMBER B2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2	C5569053	DNAJB2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
	C5569053	MME	Unknown	—	Disgenet	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2	443950	DNAJB2	Unknown	25274842	Orphanet	Protein processing in endoplasmic reticulum
PERIPHERAL MYELIN PROTEIN 2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	C5567891	PMP2	Unknown	—	Disgenet	—
PMP2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	476394	PMP2	Unknown	26828946	Orphanet, ClinGen	—
SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4	391351 C4225246	SURF1	Unknown	24027061	Disgenet, Orphanet	TP53 Regulates Metabolic Genes Respiratory electron transport

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Charcot-marie-tooth disease

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