Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO DGAT2 MUTATION	487814 C5567515	DGAT2	Unknown	26786738	Disgenet, Orphanet	Glycerolipid metabolism Metabolic pathways Fat digestion and absorption +2 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO KIF5A MUTATION	324611 C4707173 MONDO:0017940	KIF5A	Unknown	21623771	Disgenet, GWAS catalog, Orphanet	Endocytosis Dopaminergic synapse Motor proteins +12 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO TFG MUTATION	435819 C5569028 MONDO:0018567	TFG	Unknown	25098539	Disgenet, Orphanet	Pathways in cancer Thyroid cancer COPII-mediated vesicle transport
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS	401964 C5190585	DCAF8	Unknown	24500646	Disgenet, Orphanet	Neddylation
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1	99946	KIF1B	Unknown	11389829 20301462	Orphanet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2	99947	MFN2	Unknown	20301462	Orphanet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B	99936	RAB7A	Unknown	20301462	Orphanet	Mitophagy - animal Autophagy - animal Endocytosis +12 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C	99937	TRPV4	Unknown	20301462	Orphanet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2D	99938	GARS1	Unknown	20301462	Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD	521414 99939	ATP1A1	Unknown	29499166	Orphanet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD	521414 99939	NEFL	Unknown	20301462	Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F	99940	HSPB1	Unknown	20301462	Orphanet	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I	99942	MPZ	Unknown	20301462	Orphanet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J	99943	MPZ	Unknown	20301462	Orphanet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K	99944 MONDO:0020558	GDAP1	Unknown	20301462	GWAS catalog, Orphanet	Class I peroxisomal membrane protein import
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2L	99945 C4304673	HSPB8	Unknown	20301462	Disgenet, Orphanet	HSF1-dependent transactivation
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N	228174	AARS1	Unknown	20301462	Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O	284232	DYNC1H1	Unknown	20301462 21820100	Orphanet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Q	329258	DHTKD1	Unknown	23141294	Orphanet	Lysine degradation Tryptophan metabolism Lipoic acid metabolism +3 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2U	397735	MARS1	Unknown	23729695	Orphanet	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V	447964 C5569050	NAGLU	Unknown	25818867	Disgenet, Orphanet	Glycosaminoglycan degradation Metabolic pathways Lysosome +2 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y	435387 C5569026	VCP	Unknown	25125609	Disgenet, Orphanet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z	466768 C5569025	MORC2	Unknown	26497905	Disgenet, Orphanet	Fatty acyl-CoA biosynthesis
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B	100044	DNM2	Unknown	15731758 20614582	Orphanet	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C	100045	YARS1	Unknown	16429158	Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D	100046	MPZ	Unknown	10406984	Orphanet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E	93114 C4302667	INF2	Unknown	22187985	Disgenet, Orphanet	Cytoskeleton in muscle cells
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE F	352670 C4749463	GNB4	Unknown	23434117	Disgenet, Orphanet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN	324585 MONDO:0017937 C4755257	MPZ	Unknown	22704856	GWAS catalog, Orphanet, Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE DUE TO COPPER METABOLISM DEFECT	521411 C5569051 MONDO:0033850	SCO2	Unknown	29351582	CTD, Disgenet, Orphanet, ClinGen	Central carbon metabolism in cancer TP53 Regulates Metabolic Genes Respiratory electron transport
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X	466775 C5569024	SPG11	Unknown	26556829	Disgenet, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS	101097	GDAP1	Unknown	20301462	Orphanet	Class I peroxisomal membrane protein import
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A	217055 C4750774	GDAP1	Unknown	12499475 12566285	Disgenet, Orphanet	Class I peroxisomal membrane protein import
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B	254334 C4750786	KARS1	Unknown	20920668	Orphanet, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C	369867 C4750846	PLEKHG5	Unknown	23777631 23844677	Disgenet, Orphanet	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D	435998 C5569027	COX6A1	Unknown	25152455	Orphanet, Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
CHARCOT-MARIE-TOOTH DISEASE	MONDO:0015626PS118220C0007959	ABHD12	Unknown	—	ClinVar	Arachidonate production from DAG
		AHNAK2	Unknown	—	Disgenet, GenCC	Salmonella infection
		AIFM1	Unknown	—	ClinVar, Disgenet	Apoptosis Necroptosis
		ARF1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Vibrio cholerae infection +15 more
		ARHGEF10	Unknown	—	ClinVar, Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		ATP6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		BAG3	Unknown	—	ClinVar	Regulation of HSF1-mediated heat shock response
		BICD2	Unknown	—	Disgenet	Viral life cycle - HIV-1 COPI-independent Golgi-to-ER retrograde traffic
		CADM3	Unknown	—	Disgenet	Cell adhesion molecules Adherens junctions interactions Nectin/Necl trans heterodimerization
		CFAP276	Unknown	—	Disgenet, GenCC	—
		CNTNAP1	Unknown	—	ClinVar	Cell adhesion molecules
		CNTNAP2	Unknown	—	Disgenet	Cell adhesion molecules
		COX6A1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		DCTN1	Unknown	—	ClinVar, Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		DCTN2	Unknown	—	ClinVar, Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +14 more
		DGAT2	Unknown	—	ClinVar, Disgenet, GenCC	Glycerolipid metabolism Metabolic pathways Fat digestion and absorption +2 more
		DHTKD1	Unknown	—	ClinVar, Disgenet	Lysine degradation Tryptophan metabolism Lipoic acid metabolism +3 more
		DST	Unknown	—	Disgenet	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
		FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		FBXO38	Unknown	—	Disgenet	—
		GAN	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		GNB4	Unknown	11842130 23434117 27908631 28642160 28793249	ClinGen, ClinVar, Disgenet, GWAS catalog	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
		HADHB	Unknown	—	Disgenet	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation +10 more
		KARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		KIF1B	Unknown	—	ClinVar, Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		KIF5A	Unknown	—	ClinVar	Endocytosis Dopaminergic synapse Motor proteins +12 more
		MARS1	Unknown	11714285 23729695 24354524 27025386 27717217 29582526 31356216 32219202	ClinGen, ClinVar, Disgenet, GWAS catalog	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		PLEKHG5	Unknown	—	ClinVar, Disgenet	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
		SPG11	Unknown	—	ClinVar, Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		TFG	Unknown	—	Disgenet	Pathways in cancer Thyroid cancer COPII-mediated vesicle transport
		VCP	Unknown	—	Disgenet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2	MONDO:0018993	MARS1	Unknown	—	ClinVar	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		NEFL	Unknown	17881652 19158810 20039262 26383514 28654681 29191368 35237613 9388258 9398473	ClinGen, Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		RAB7A	Unknown	12545426 15455439 17046692 17060578 23179371 23616551 24498653 24521780 26791407 29130394 32326241	ClinGen, GWAS catalog	Mitophagy - animal Autophagy - animal Endocytosis +12 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B5	228374 C4749824 MONDO:0016454	NEFL	Unknown	20039262	Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE TYPE 2H	101102	GDAP1	Unknown	20301462	Orphanet	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE TYPE 3	MONDO:0007790	MPZ	Unknown	8816708 12242557	CTD	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE TYPE 4	C4082197	DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		HSPB1	Unknown	—	Disgenet	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
		KIF1B	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		MORC2	Unknown	—	Disgenet	Fatty acyl-CoA biosynthesis
		TRPV4	Unknown	—	Disgenet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	C1842984	GDAP1	Unknown	—	Disgenet	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	C4721887 609260	ATP1A1	Unknown	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		DHTKD1	Unknown	—	Disgenet	Lysine degradation Tryptophan metabolism Lipoic acid metabolism +3 more
		MFN2	Unknown	—	Disgenet, HPO	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B,	MONDO:0014906	MFN2	Unknown	—	ClinVar, GenCC	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	C1861678 118210 MESH:C566138	DGAT2	Unknown	—	Disgenet	Glycerolipid metabolism Metabolic pathways Fat digestion and absorption +2 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	C1861678 118210 MESH:C566138	KIF1B	Unknown	—	CTD, Disgenet, HPO	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	MESH:C563757	MFN2	Unknown	—	CTD	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	600882	RAB7A	Unknown	—	HPO	Mitophagy - animal Autophagy - animal Endocytosis +12 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	601472	GARS1	Unknown	—	HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E	607684	NEFL	Unknown	—	HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE	C5193076	NEFL	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	606595 C1847823	HSPB1	Unknown	—	Disgenet, HPO	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I	607677	MPZ	Unknown	—	HPO	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J	607736	MPZ	Unknown	—	HPO	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ	621095 MONDO:0976227	BAG3	Unknown	—	ClinVar, GenCC, HPO	Regulation of HSF1-mediated heat shock response
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	607831 C1842983	GDAP1	Unknown	—	Disgenet, HPO	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	608673 C1837552 OMIM:608673	HSPB8	Unknown	—	CTD, Disgenet, HPO	HSF1-dependent transactivation
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N	613287 C2750090 MESH:C567653	AARS1	Unknown	—	CTD, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	614228 C3280220 OMIM:614228	DYNC1H1	Unknown	—	CTD, Disgenet, HPO	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q	615025 C3554366 OMIM:615025	DHTKD1	Unknown	—	CTD, Disgenet, HPO	Lysine degradation Tryptophan metabolism Lipoic acid metabolism +3 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U	616280 C4084821 OMIM:616280	MARS1	Unknown	—	CTD, Disgenet, HPO, ClinGen	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	616491 OMIM:616491	NAGLU	Unknown	—	CTD, HPO	Glycosaminoglycan degradation Metabolic pathways Lysosome +2 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X	616668 OMIM:616668	SPG11	Unknown	—	CTD, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y	616687 OMIM:616687	VCP	Unknown	—	CTD, HPO	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	616688 OMIM:616688	MORC2	Unknown	—	CTD, HPO	Fatty acyl-CoA biosynthesis
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B	118200	MPZ	Unknown	—	HPO	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F	607734 C1843164	NEFL	Unknown	—	Disgenet, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H	619764 C5676926	FBLN5	Unknown	—	Disgenet, HPO	Elastic fibre formation Molecules associated with elastic fibres
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A	214400	GDAP1	Unknown	—	HPO	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B	606482 C1847902 MESH:C564703	DNM2	Unknown	—	CTD, Disgenet, HPO	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	608323 C1842237 MESH:C564257	YARS1	Unknown	—	CTD, Disgenet, HPO, ClinGen	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D	607791 C1843075 MESH:C564333	MPZ	Unknown	—	CTD, Disgenet, HPO	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	614455 OMIM:614455	INF2	Unknown	—	CTD, HPO	Cytoskeleton in muscle cells
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F	615185 OMIM:615185	GNB4	Unknown	—	CTD, HPO, ClinGen	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	608340 C1842197 MESH:C564256	GDAP1	Unknown	—	CTD, Disgenet, HPO	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B	613641 C3150897 OMIM:613641	KARS1	Unknown	—	CTD, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	615376 C3809309 OMIM:615376	PLEKHG5	Unknown	—	CTD, Disgenet, HPO	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	616039 OMIM:616039	COX6A1	Unknown	—	CTD, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F	MESH:C537987	NEFL	Unknown	—	CTD	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B	C1833219 MESH:C537989	RAB7A	Unknown	—	CTD, Disgenet	Mitophagy - animal Autophagy - animal Endocytosis +12 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D	C1832274 MESH:C537993	GARS1	Unknown	—	CTD, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2E	C1843225 MESH:C537994	NEFL	Unknown	—	CTD, Disgenet, ClinGen	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2F	MESH:C535413	HSPB1	Unknown	—	CTD	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	C3888087 MESH:C535416	MPZ	Unknown	—	CTD, Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	C1843153 MESH:C535417	MPZ	Unknown	—	CTD, Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2K	MESH:C535418	GDAP1	Unknown	—	CTD	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A	C1859198 MESH:C535419	GDAP1	Unknown	—	CTD, Disgenet	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM	C1843183	GDAP1	Unknown	—	Disgenet, ClinGen	Class I peroxisomal membrane protein import
CHARCOT-MARIE-TOOTH DISEASE, TYPE IA	C0270911	ATP6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
CHARCOT-MARIE-TOOTH DISEASE, TYPE IB	C0270912	MPZ	Unknown	—	Disgenet, ClinGen	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	C1847903	DNM2	Unknown	—	Disgenet, ClinGen	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more

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Charcot-marie-tooth disease

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