Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2M	228179 C4304672 MONDO:0016431	DNM2	Causal	17636067 18394888	Disgenet, Orphanet	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2W	488333 C5567486 MONDO:0014711	HARS1	Causal	26072516	ClinVar, Disgenet, GWAS catalog, Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE	C0007959 MONDO:0015626PS118220MESH:D002607	AARS1	Causal	—	ClinVar, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		ATL1	Causal	—	Disgenet	—
		ATP7A	Causal	—	ClinVar, Disgenet	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more
		BSCL2	Causal	—	Disgenet	—
		CTDP1	Causal	—	Disgenet	Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Formation of HIV-1 elongation complex containing HIV-1 Tat +3 more
		DHX9	Causal	—	Disgenet	RIP-mediated NFkB activation via ZBP1 DEx/H-box helicases activate type I IFN and inflammatory cytokines production mRNA Splicing - Major Pathway
		DNAJB2	Causal	—	Disgenet	Protein processing in endoplasmic reticulum
		DNM2	Causal	15731758 17636067 18394888 18560793 19502294 19623537 22091729 22096584 22451505 25259927 28971531 30648534 32129442	CTD, ClinGen, Disgenet	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
		DNMT1	Causal	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		DRP2	Causal	—	ClinVar, Disgenet, GenCC	—
		DYNC1H1	Causal	—	ClinVar, Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		EGR2	Causal	11523566 15695336 16373334 17325040 17717711 19244508 20513111 26204789 27159987 30481651 30843326 31852952 32896048 7935840 9537424	ClinGen, ClinVar, Disgenet, GWAS catalog	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
		ELP1	Causal	—	Disgenet	—
		FGD4	Causal	15744041 17564959 17564972 19221294 19332693 23171661	ClinGen, Disgenet, GWAS catalog	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		FIG4	Causal	16364647 17572665 21705420 23623387 24598713	CTD, ClinGen, Disgenet, GenCC	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
		GARS1	Causal	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		GDAP1	Causal	11743579 11743580 12499475 15805163 16172208 18492089 24480485 25122658	ClinGen, Disgenet, GWAS catalog	Class I peroxisomal membrane protein import
		GJB1	Causal	—	Disgenet	Oligomerization of connexins into connexons Gap junction assembly
		HINT1	Causal	22961002 24105373 25342199 26059562 30001929 31088288 33404983	ClinGen, ClinVar, Disgenet, GWAS catalog	—
		HSPB1	Causal	—	ClinVar, Disgenet	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
		HSPB8	Causal	—	ClinVar, Disgenet	HSF1-dependent transactivation
		IGHMBP2	Causal	—	ClinVar, Disgenet	—
		INF2	Causal	—	ClinVar, Disgenet	Cytoskeleton in muscle cells
		LITAF	Causal	12525712 15776429 16787513 19541485 23359569 24880540 27927196 28211240	ClinGen, ClinVar, Disgenet, GWAS catalog	Lysosome
		LMNA	Causal	—	ClinVar, Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		LRSAM1	Causal	20865121	CTD, ClinVar, Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
		MFN2	Causal	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MORC2	Causal	28581500	CTD, ClinVar, Disgenet	Fatty acyl-CoA biosynthesis
		MPZ	Causal	10212299 10406984 10553995 15326256 16495463 1724420 19344920 22689911 23290023 7358790 7506095 7693129 9168174 9595994	CTD, ClinGen, Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
		MTMR2	Causal	—	ClinVar, Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		NAGLU	Causal	—	ClinVar, Disgenet	Glycosaminoglycan degradation Metabolic pathways Lysosome +2 more
		NDRG1	Causal	—	ClinVar, Disgenet	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
		NEFL	Causal	10841809 11220745 12477167 12481988 12566280 14733962 17881652 18758688 25552649 28501821 28654681 31715019 34485306 9388258 9398473	ClinGen, ClinVar, Disgenet, GWAS catalog	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		NTRK1	Causal	—	Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
		PMP22	Causal	17275665 17303424 19427269	CTD, ClinVar, Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		PRX	Causal	—	ClinVar, Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		RAB7A	Causal	—	ClinVar, Disgenet	Mitophagy - animal Autophagy - animal Endocytosis +12 more
		REEP1	Causal	—	Disgenet	Olfactory Signaling Pathway
		RETREG1	Causal	—	Disgenet	—
		SBF1	Causal	—	ClinVar, Disgenet	Synthesis of PIPs at the ER membrane RAB GEFs exchange GTP for GDP on RABs
		SBF2	Causal	—	ClinVar, Disgenet	RAB GEFs exchange GTP for GDP on RABs
		SH3TC2	Causal	—	Disgenet	—
		SLC12A6	Causal	—	Disgenet	Cation-coupled Chloride cotransporters Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
		SPTLC1	Causal	21618344 20097765 30420926 27604308	ClinVar, Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		SPTLC2	Causal	20920666 27604308	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		TRPV4	Causal	22187434	CTD, Disgenet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
		TTR	Causal	—	Disgenet	Thyroid hormone synthesis Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +4 more
		YARS1	Causal	14606043 16429158 19561293 21732632 24354524 24627108 26138142 26257172 27027447 30373780 31695036	ClinGen, ClinVar, Disgenet, GenCC	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2C	MONDO:0011633	TRPV4	Causal	12682323 15668982 20037586 20037587 20037588 21288981 21454511 606071	ClinVar, GWAS catalog	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2CC	MONDO:0014836	NEFH	Causal	23825401 27040688 28544463 28709447 29587262 30992180 9388258 9763431	CTD, ClinGen, ClinVar	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2F	MONDO:0011687	HSPB1	Causal	15122254 21785432 26675522 27492805 28144995	CTD, ClinGen, ClinVar	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2K	MONDO:0011916	GDAP1	Causal	11743579 15805163 16941080 18021315 18231710 19782751 20685671 20849849 21753178 21890626 24480485 25168384 606598 8268915 9933296	ClinVar, GWAS catalog	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2L	MONDO:0012096	HSPB8	Causal	15021985 15122253 15565283 20157854 20538880 21983727 21985219 8817349	ClinVar, Disgenet	HSF1-dependent transactivation
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2N	MONDO:0013212	AARS1	Causal	20045102 22009580 22206013 30124830	ClinGen, ClinVar, GenCC	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2O	MONDO:0013644	DYNC1H1	Causal	20697106 206987106 21820100 218820100 22349677 22459677 22847149 25025039 26392352 28196890 29243232 32656949	CTD, ClinVar	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P	MONDO:0013753	LRSAM1	Causal	22012984 22781092 23519028 24894446 27615052 27686364 29845787 30996334 35842440	ClinGen, ClinVar, GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2S	MONDO:0014511	IGHMBP2	Causal	—	ClinVar, GenCC	—
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2T	MONDO:0014866	DNAJB2	Causal	20395441 22522442 25274842 27083531 27449489 33481221	ClinGen, GWAS catalog	Protein processing in endoplasmic reticulum
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2V	MONDO:0014665	NAGLU	Causal	25818867 282780 36648562	ClinVar, GWAS catalog	Glycosaminoglycan degradation Metabolic pathways Lysosome +2 more
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Z	MONDO:0014736	MORC2	Causal	26497905 26659848 26912637 27105897 27329773 28581500 28771897 30624633 33844363 34059105 34189813 35332768 35904125	ClinGen, ClinVar, GenCC	Fatty acyl-CoA biosynthesis
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE B	MONDO:0011674	DNM2	Causal	11533912 15731758 16775378 19502294 22091729 22396310 22451505 602378	ClinVar, GenCC	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE C	MONDO:0012012	YARS1	Causal	16429158 19561293 24354524 24627108 30340945 30373780 31832804	ClinVar	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE D	MONDO:0011909	MPZ	Causal	10406984	CTD, ClinVar	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE E	MONDO:0013758	INF2	Causal	22187985 23349293 24174593 24750328 25676889 26086034 27030671	ClinGen, ClinVar, GWAS catalog	Cytoskeleton in muscle cells
CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE A	MONDO:0012014	GDAP1	Causal	11743579 11743580 16941080 20685671 21753178 23456260 24480485 25403865 606598 8268915 9933296	ClinVar, GWAS catalog	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE TYPE 1B	101082 MONDO:0007307	MPZ	Causal	20301384	ClinVar, GenCC, Orphanet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 1C	101083 MONDO:0010995	LITAF	Causal	11713717 12525712 15122712 20301384 22539601 23166352 23576546 24604904 25058650 603795	ClinGen, ClinVar, Orphanet	Lysosome
CHARCOT-MARIE-TOOTH DISEASE TYPE 1D	101084 MONDO:0011890	EGR2	Causal	20301384	ClinVar, GenCC, Orphanet	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 1E	90658 MONDO:0007311	PMP22	Causal	10330345 20301384 24175617 601097	ClinVar, GWAS catalog, Orphanet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 1F	101085 MONDO:0011902	NEFL	Causal	16619203 19158810 20039262 20301384 8468353	ClinVar, Disgenet, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2	MONDO:0012231	MFN2	Causal	16043786 16087932 16835246 17215403 21508331 23781337	ClinVar, GWAS catalog	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B	MONDO:0010949	RAB7A	Causal	105068 10636124 11094113 12545426 15455439 19392663 20028791 23188822 26791407 7573046	CTD, ClinVar	Mitophagy - animal Autophagy - animal Endocytosis +12 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1	98856 MONDO:0011569	LMNA	Causal	11799477 14985400 1521950 18585512 18926329 193996 20301462 25829471 29029073 3042067	ClinVar, Disgenet, Orphanet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2D	MONDO:0011091	GARS1	Causal	12690580 16982418 17035524 17101916 17595294 19470612 20169446 24807208 25420567 26244500 31173493 31557132 31628756 32181591 8541851 8872480 9879677	CTD, ClinGen, ClinVar	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE TYPE 2E	MONDO:0011894	NEFL	Causal	20301462	ClinVar, Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2I	MONDO:0011889	MPZ	Causal	20301462	CTD, ClinVar	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 2J	MONDO:0011903	MPZ	Causal	20301462	CTD, ClinVar	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 4	C4082197 MONDO:0018995	FGD4	Causal	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		FIG4	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
		GDAP1	Causal	—	Disgenet	Class I peroxisomal membrane protein import
		MFN2	Causal	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MTMR2	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		NDRG1	Causal	—	Disgenet	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
		PRX	Causal	10839370 11133365 11157804 12112076 16770524 21079185 8575326	ClinGen, Disgenet, GWAS catalog	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SBF1	Causal	—	ClinVar, Disgenet	Synthesis of PIPs at the ER membrane RAB GEFs exchange GTP for GDP on RABs
		SBF2	Causal	—	Disgenet	RAB GEFs exchange GTP for GDP on RABs
		SH3TC2	Causal	—	Disgenet	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 4A	99948 MONDO:0008961	GDAP1	Causal	20301711	ClinVar, GWAS catalog, Orphanet	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1	99955 MONDO:0011066	MTMR2	Causal	10802647 16249189 20301641 22028665 8817345	ClinVar, GWAS catalog, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2	99956 MONDO:0011475	SBF2	Causal	12554688 15477569 12687498 15304601 20301641	ClinGen, ClinVar, GWAS catalog, Orphanet	RAB GEFs exchange GTP for GDP on RABs
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3	363981 C3695063 MONDO:0014117	SBF1	Causal	11994405 21210780 23749797 24799518 28005197 28902413	ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet	Synthesis of PIPs at the ER membrane RAB GEFs exchange GTP for GDP on RABs
CHARCOT-MARIE-TOOTH DISEASE TYPE 4C	99949 MONDO:0011113	SH3TC2	Causal	20301514	ClinVar, GenCC, Orphanet	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 4D	99950 MONDO:0011085	NDRG1	Causal	10831399 12872253 15082788 20301641 21303696 24136616 27982524 28776325	ClinVar, Disgenet, Orphanet	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
CHARCOT-MARIE-TOOTH DISEASE TYPE 4F	C2608082 99952 MONDO:0013959	PRX	Causal	20301641	Disgenet, ClinVar, GenCC, Orphanet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 4H	99954 MONDO:0012250	FGD4	Causal	153601 15744041 17564972 20301641 23171661 23926620	ClinVar, GWAS catalog, Orphanet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
CHARCOT-MARIE-TOOTH DISEASE TYPE 4J	139515 MONDO:0012640	FIG4	Causal	20301641 24228289	ClinVar, GenCC, Orphanet	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B	617087 C4310725 OMIM:617087	MFN2	Causal	—	CTD, Disgenet, HPO	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, IIA 2II	MONDO:0031068	SLC12A6	Causal	27485015 31439721	ClinVar, Orphanet	Cation-coupled Chloride cotransporters Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE	607706 MONDO:0011898 OMIM:607706	GDAP1	Causal	—	CTD, ClinVar, HPO	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882 C4693509 MONDO:0036484	NEFL	Causal	—	ClinVar, Disgenet, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A		MFN2	Causal	—	ClinVar	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE IA	C0270911	PMP22	Causal	—	Disgenet, ClinVar	EGR2 and SOX10-mediated initiation of Schwann cell myelination

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Charcot-marie-tooth disease

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