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 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 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 2W	488333 C5567486 MONDO:0014711	HARS1	Causal	26072516	ClinVar, Disgenet, GWAS catalog, Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
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	C5569027 435998	COX6A1	Unknown	25152455	Disgenet, Orphanet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
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
		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
		NAGLU	Causal	—	ClinVar, Disgenet	Glycosaminoglycan degradation Metabolic pathways Lysosome +2 more
		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
		RAB7A	Causal	—	ClinVar, Disgenet	Mitophagy - animal Autophagy - animal Endocytosis +12 more
		TRPV4	Causal	22187434	CTD, Disgenet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
		YARS1	Causal	14606043 16429158 19561293 21732632 24354524 24627108 26138142 26257172 27027447 30373780 31695036	ClinGen, ClinVar, Disgenet, GenCC	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		CADM3	Unknown	—	Disgenet	Cell adhesion molecules Adherens junctions interactions Nectin/Necl trans heterodimerization
		COX6A1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 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
		FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		GNB4	Unknown	11842130 23434117 27908631 28642160 28793249	ClinGen, ClinVar, Disgenet, GWAS catalog	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
		HARS1	Unknown	—	ClinVar, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		HK1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 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 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 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 2Q	MONDO:0014012	DHTKD1	Causal	23141294 28251916 29653220 29661920 30896807	CTD, ClinVar	Lysine degradation Tryptophan metabolism Lipoic acid metabolism +3 more
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 2U	MONDO:0014566	MARS1	Causal	23729695 24354524 24482476 27025386 27717217 29582526 35723632	ClinVar, GWAS catalog	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
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 2X	MONDO:0014726	SPG11	Causal	—	ClinVar, GenCC	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
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 DOMINANT INTERMEDIATE F	MONDO:0014074	GNB4	Causal	23434117 27908631 28642160	ClinVar, Orphanet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
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 RECESSIVE INTERMEDIATE B	MONDO:0013338	KARS1	Causal	20920668 23596069 25330800 26741492 28496994	ClinVar, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE C	MONDO:0014154	PLEKHG5	Causal	23777631	ClinVar, Orphanet	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE D	MONDO:0014467	COX6A1	Causal	10546875 25152455 26302975 27549087	ClinVar, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
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 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 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 2	MONDO:0018993	DNAJB2	Unknown	—	ClinVar	Protein processing in endoplasmic reticulum
		IGHMBP2	Unknown	—	ClinVar	—
		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 2A1	MONDO:0007308	KIF1B	Causal	—	ClinVar, GenCC	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
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 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 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 2H	101102	GDAP1	Unknown	20301462	Orphanet	Class I peroxisomal membrane protein import
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 2S	443073	IGHMBP2	Unknown	25439726	Orphanet	—
CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y	MONDO:0014735	VCP	Causal	25125609 25878907 32165109	ClinVar, Orphanet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
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
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	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
		DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		HSPB1	Unknown	—	Disgenet	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
		IGHMBP2	Unknown	—	Disgenet	—
		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 TYPE 4A	99948 MONDO:0008961	GDAP1	Causal	20301711	ClinVar, GWAS catalog, Orphanet	Class I peroxisomal membrane protein import
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 TYPE 4G	99953 MONDO:0011534	HK1	Causal	19536174	ClinVar, GenCC, Orphanet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more
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, 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	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, 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 2DD	618036 C4747974 MONDO:0054833	ATP1A1	Causal	29499166 31373411	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
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 2FF	619519 C5561981 MONDO:0030433	CADM3	Causal	33889941	ClinVar, Disgenet, GWAS catalog, HPO	Cell adhesion molecules Adherens junctions interactions Nectin/Necl trans heterodimerization
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 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 2S	616155 C4015349 OMIM:616155	IGHMBP2	Unknown	—	CTD, Disgenet, HPO	—
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T	C4015635	DNAJB2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
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 2W	616625 OMIM:616625	HARS1	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
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, 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, DEMYELINATING, IIA 1H	MONDO:0030689	FBLN5	Causal	21576112 23328402 28332470	CTD, ClinVar	Elastic fibre formation Molecules associated with elastic fibres
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 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 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, DEMYELINATING, TYPE 4H	609311	FGD4	Unknown	—	HPO	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J	611228	FIG4	Unknown	—	HPO	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
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, 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, 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 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 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 2A		MFN2	Causal	—	ClinVar	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 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 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
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	C1836336 MESH:C563740	FGD4	Unknown	—	CTD, Disgenet, ClinGen	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	C1970011 MESH:C566984	FIG4	Unknown	—	CTD, Disgenet, ClinGen	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 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
DNAJ HEAT SHOCK PROTEIN FAMILY MEMBER B2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2	C5569053	DNAJB2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2	443950	DNAJB2	Unknown	25274842	Orphanet	Protein processing in endoplasmic reticulum

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Charcot-marie-tooth disease

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