Charcot-marie-tooth Disease malady

NIH Rare Diseases: Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in at least 30 genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.³⁰

MalaCards: Charcot-marie-tooth Disease, also known as CMT, is related to tooth disease and charcot-marie-tooth disease type 1. An important gene associated with Charcot-marie-tooth Disease is MPZ (myelin protein zero), and among its related pathways is Endocytosis. The compounds phosphatidylinositol 3-phosphate and 2,3-cyclic nucleotide have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and spinal cord, and related mouse phenotypes are skeleton and respiratory system.

MedlinePlus: Charcot-marie-tooth disease (cmt) is a group of genetic nerve disorders. it is named after the three doctors who first identified it. in the united states, cmt affects about 1 in 3,300 people. cmt affects your peripheral nerves. peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. symptoms usually start around the teen years. foot problems such as high arches or hammertoes can be early symptoms. as cmt progresses, your lower legs may weaken. later, your hands may also become weak. there is no cure. the disease can be so mild you don't realize you have it or severe enough to make you weak. many people with cmt lead active lives and have a normal life span. physical therapy, occupational therapy, braces and other devices and sometimes surgery can help you cope. genetics home reference²³

NINDS: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the³¹

Genetics Home Reference: Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves and result in problems with movement and sensation. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.¹⁷

Wikipedia: Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, hereditary...⁴⁴ more...

Aliases & Descriptions:

charcot-marie-tooth disease 6 7 44 30 17 31 8 32 23 43 cmt 44 15 30 17 hereditary motor and sensory neuropathy 44 30 17 peroneal muscular atrophy 6 44 17 hmsn 44 30 17 pma 44 17 charcot-marie-tooth hereditary neuropathy 15 hereditary motor and sensory neuropathies 43 peroneal muscular atrophy nos (disorder) 6

charcot-marie-tooth disease (disorder) 6 charcot marie tooth muscular atrophy 6 dejerine-sottas disease (disorder) 43 cmt - charcot-marie-tooth disease 6 roussy-levy syndrome (disorder) 43 charcot marie tooth disease 30 dejerine-sottas syndrome 44 roussy-levy syndrome 44

Disease types for charcot-marie-tooth disease family:

charcot-marie-tooth disease type 2	charcot-marie-tooth disease type 1
charcot-marie-tooth disease type 4	charcot-marie-tooth disease type 3
charcot-marie-tooth disease type x	charcot-marie-tooth disease type 1a
charcot-marie-tooth disease type 1b	charcot-marie-tooth disease type 1c
charcot-marie-tooth disease type 1d	charcot-marie-tooth disease type 1e
charcot-marie-tooth disease type 1f	charcot-marie-tooth disease type 2a
charcot-marie-tooth disease type 2b	charcot-marie-tooth disease type 2b1
charcot-marie-tooth disease type 2b2	charcot-marie-tooth disease type 2c
charcot-marie-tooth disease type 2d	charcot-marie-tooth disease type 2e
charcot-marie-tooth disease type 2f	charcot-marie-tooth disease type 2g
charcot-marie-tooth disease type 2h	charcot-marie-tooth disease type 2i
charcot-marie-tooth disease type 2j	charcot-marie-tooth disease type 2k
charcot-marie-tooth disease type 4b1	charcot-marie-tooth disease type 4b2
charcot-marie-tooth disease type 4e	charcot-marie-tooth disease, type 2a1
charcot-marie-tooth disease, type 2a2	charcot-marie-tooth disease, type 4f

Diseases related to charcot-marie-tooth disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 218)

id	Related Disease	Score	Top Affiliating Genes
1	tooth disease	43.6	MPZ, GJB1, EGR2, PMP22
2	charcot-marie-tooth disease type 1	39.8	NAB1, LITAF, CMT1A, MPZ, GJB1, ERBB3
3	charcot-marie-tooth disease type 1a	39.5	CMT1A, PMP22
4	charcot-marie-tooth disease type 2	37.6	KIF1B, LMNA, RAB7A, CMT2B, MPZ, GZMH
5	charcot-marie-tooth disease type 1b	37.3	MPZ, PMP22
6	charcot-marie-tooth disease type 4	37.2	KIF2B, KIF20A, RAB11A, MTMR2, SBF1, SBF2
7	charcot-marie-tooth disease type 2a	36.4	KIF1B, MFN2, DVL1
8	charcot-marie-tooth disease type 4b1	36.0	MTMR2, MTM1, SBF2
9	charcot-marie-tooth disease type 1c	35.8	LITAF, EMP2
10	charcot-marie-tooth disease type 2b	35.8	RAB7A, CMT2B
11	hereditary neuropathies	35.8	LMNA, MTMR2, MPZ, MAG, GJB1, PLP1
12	charcot-marie-tooth disease type 1e	35.8	CMT1A, PMP22
13	hereditary neuropathy with liability to pressure palsy	35.5	MPZ, GJB1, SH3TC2, PMP22
14	hereditary neuropathy with liability to pressure palsies	35.5	MPZ, GJB1, SH3TC2, PMP22
15	charcot-marie-tooth disease type 4b2	35.4	SBF1, SBF2
16	charcot-marie-tooth disease type x	34.8	GJB1, PLP1
17	hypertrophic neuropathy of dejerine-sottas	34.5	NAB2, NAB1, TSPAN4
18	charcot-marie-tooth neuropathy type 2	34.5	KIF1B, LMNA, RAB7A, MPZ, MFN2, HSPB1
19	charcot-marie-tooth disease type 3	34.4	CMT1A, MPZ, GJB1, EGR2, PRX, PMP22
20	charcot-marie-tooth neuropathy x	34.3	CMTX3, GJB1, PRPS1
21	sensory neuropathy type 1	33.8	GJB1, SPTLC1, PMP22
22	charcot-marie-tooth neuropathy type 1	33.6	LITAF, CMT1A, MPZ, GJB1, EGR2, PMP22
23	charcot-marie-tooth neuropathy type 4b2	33.5	MTMR2, MTM1, SBF2
24	charcot-marie-tooth neuropathy type 1a	33.2	MPZ, PMP22
25	paralysis	32.6	CNTF, SCN4A, MPZ, FIG4, MAG, HSPB1
26	charcot-marie-tooth neuropathy type 4e	32.4	MPZ, EGR2, PMP22
27	early-onset glaucoma	32.1	MTMR2, MTM1, SBF1, SBF2
28	charcot-marie-tooth neuropathy type 2a	32.0	KIF1B, MFN2, TOMM40
29	charcot-marie-tooth neuropathy type 4	32.0	MTMR2, MTM1, SBF2, FIG4, FGD4, SH3TC2
30	roussy-levy syndrome	32.0	MPZ, PMP22
31	motor peripheral neuropathy	31.9	MPZ, PMP22
32	polyneuropathy	31.0	CNTF, KIF1B, MPZ, MFN2, MAG, GJB1
33	optic atrophy	31.0	MFN1, MFN2, PLP1, DNM1L, PRPS1, OPA1
34	spinal muscular atrophy	31.0	LMNA, MTM1, HSPB8, TRPV4, NDUFS4, GARS
35	muscular atrophy	30.7	CNTF, LMNA, MTM1, MPZ, HSPB1, HSPB8
36	charcot-marie-tooth neuropathy	30.5	KIF1B, LMNA, RAB7A, LITAF, CMT1A, CMT2B
37	inherited peripheral neuropathy	30.1	CMT1A, MPZ, HSPB8, GJB1, EGR2, PMP22
38	laryngitis	29.9	MPZ, GSTP1, HSPB1, GJB2, ERBB3, ERBB2
39	peripheral neuropathy	29.7	CNTF, KIF1B, NAB2, NAB1, LMNA, CMT1A
40	distal hereditary motor neuropathy	29.7	CLIP2, GZMH, MAGI2, HSPB1, HSPB8, PTPN12
41	lateral sclerosis	29.6	CNTF, FIG4, GSTP1, MAG, HSPB1, HSPB8
42	amyotrophic lateral sclerosis	29.5	CNTF, FIG4, GSTP1, MAG, HSPB1, HSPB8
43	glaucoma	29.3	CNTF, MTMR2, MTM1, SBF1, SBF2, GSTP1
44	neuropathy, recurrent, with pressure palsies	29.0	CMT1A, PMP22
45	myopathy	28.6	LMNA, SCN4A, MTMR2, MTMR1, MTM1, SBF1
46	multiple sclerosis	28.6	CNTF, KIF1B, BTG1, MPZ, GSTP1, MAG
47	neuropathy	26.7	CNTF, KIF2B, KIF1B, NAB2, NAB1, LMNA
48	hearing loss	25.9	SCN4A, MPZ, GJB1, GJB2, NTF3, PRPS1
49	tremor	25.8	MPZ, FIG4, GSTP1, TNNT1, PLP1, POLG
50	breast cancer	25.6	CNTF, BTG1, LPAR1, LMNA, RAB7A, RAB11A

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to charcot-marie-tooth disease:

²²

MGI Mouse Phenotypes related to charcot-marie-tooth disease:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	8.0	ERBB2, DARC, SH3TC2, NDUFS4, HIP1, DVL1
2	respiratory system phenotype	MP:0005388	8.0	NTF3, NDUFS4, EGR2, HIP1, DNM1L, PRX
3	normal phenotype	MP:0002873	7.7	NTF3, NDUFS4, EGR2, HIP1, TSG101, DVL1
4	reproductive system phenotype	MP:0005389	7.4	EGR4, EGR2, PLP1, NRG2, NTF3, HIP1
5	muscle phenotype	MP:0005369	7.2	NDRG1, NDUFS4, HIP1, DNM1L, DNM2, OPA1
6	integument phenotype	MP:0010771	7.0	NDUFS4, EGR2, TSG101, DNM1L, PRX, SOX10
7	homeostasis/metabolism phenotype	MP:0005376	6.1	NTF3, PLEK, PLP1, NDRG1, NDUFS4, EGR2
8	behavior/neurological phenotype	MP:0005386	5.6	MYH6, FIG4, MFN1, MFN2, MAG, HOXD10
9	cellular phenotype	MP:0005384	5.4	DNM1L, TSG101, HIP1, EGR4, EGR2, NDUFS4
10	nervous system phenotype	MP:0003631	5.1	CNTF, MFN1, MFN2, MAGI2, MAG, HOXD10
11	mortality/aging	MP:0010768	4.6	HIP1, EGR2, NDUFS4, NDRG1, PLP1, NRG2
12	growth/size phenotype	MP:0005378	4.3	TSG101, HIP1, EGR2, NDUFS4, NDRG1, PLP1

Articles related to charcot-marie-tooth disease:

(show top 50)    (show all 316)

id	Title	Authors	Year	Affiliating Genes
1	Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease. (21827951)	Sakakura M.... Sanders C.R.	2011	PMP22
2	Recessive axonal Charcot-Marie-Tooth disease due to c ompound heterozygous mitofusin 2 mutations. (21715711)	Polke J.M.... Reilly M.M.	2011	MFN2
3	A novel mutation in the nerve-specific 5'UTR of the G JB1 gene causes X-linked Charcot-Marie-Tooth disease. (21504505)	Murphy S.M.... Reilly M.M.	2011	GJB1
4	Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. (19950375)	Benson B.... Blitzer A.	2010	NEFL, MPZ, PRX
5	The 5' regulatory sequence of the PMP22 in the patien ts with Charcot-Marie-Tooth disease. (20842290)	Sinkiewicz-Darol E.... KochaA8ski A.	2010	PMP22
6	Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. (19427854)	Cartoni R.... Martinou J.C.	2009	MFN2
7	Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. (19427269)	Burns J.... Ryan M.M.	2009	PMP22
8	POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. (18195151)	Harrower T.... Chinnery P.F.	2008	POLG
9	Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. (18421898)	Kabzinska D.... Lupski J.R.	2007	GDAP1
10	Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. (16307437)	Massa R.... Modesti A.	2006	ERBB2, ERBB3
11	Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. (17039978)	Kabzinska D.... Hausmanowa-Petrusewicz I.	2006	GDAP1
12	Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551. (17297707)	Jakubiczka S.... Wieacker P.	2006	MPZ
13	Molecular genetics of X-linked Charcot-Marie-Tooth disease. (16775370)	Kleopa K.A.... Scherer S.S.	2006	GJB1
14	SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. (15776429)	Saifi G.M.... Lupski J.R.	2005	NEDD4, HGS, TSG101
15	X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. (15468313)	Vondracek P.... Fajkusova L.	2005	GJB1, DLX4
16	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot- Marie-Tooth disease family. (15947997)	Chung K.W.... Choi B.O.	2005	EGR2, GJB1
17	Neurotrophin-3 therapy for Charcot-Marie-Tooth disease type 1A. (16157894)	Pleasure D.E.... Chance P.F.	2005	NTF3
18	GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. (15772096)	Pedrola L.... Palau F.	2005	GDAP1
19	Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease (16321242)	Guo P.... Liang J.H.	2005	HSPB1, GJB1, PMP22
20	Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease. (16086267)	Zhang F.F.... Guo P.	2005	HSPB8
21	Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. (15805163)	Claramunt R.... Palau F.	2005	GDAP1
22	De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease. (15625576)	KochaA8ski A.... KabziA8ska D.	2004	PMP22
23	A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease. (14742601)	Santoro L.... Bellone E.	2004	MPZ
24	Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (12566280)	Jordanova A.... Timmerman V.	2003	NEFL
25	Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (12690580)	Antonellis A.... Green E.D.	2003	GARS
26	Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. (14557576)	Lus G.... De Jonghe P.	2003	NEFL, KIF1B
27	Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. (12477167)	Yoshihara T.... Sobue G.	2002	NEFL
28	Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. (11713717)	Street V.A.... Chance P.F.	2002	LITAF, EMP2
29	Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. (12402337)	Numakura C.... Hayasaka K.	2002	EGR2, GJB1, PMP22
30	Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1). (11393532)	Matsuyama W.... Osame M.	2001	GJB1
31	A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (11239949)	Yoshihara T.... Sobue G.	2001	EGR2
32	Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (11220745)	De Jonghe P.... Timmerman V.	2001	NEFL
33	Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. (10891594)	Wang H.L.... Fang W.	2000	GJB1
34	Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ). (11085599)	Ekici A.B.... Grehl H.	2000	GJB1, PMP22, MPZ
35	Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. (10848494)	Delague V.... Claustres M.	2000	MAG, PRX
36	Charcot-Marie-Tooth disease type 1A (CMT1A) and hered itary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. (10998431)	Seeman P.... Rautenstrauss B.	2000	PMP22
37	Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. (10644431)	Othmane K.B.... Vance J.M.	1999	SBF2
38	Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation. (9455987)	Tachi N.... Sasaki K.	1997	MPZ
39	Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. (9354338)	Oh S.... Bargiello T.A.	1997	GJB1
40	Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. (9401007)	Rouger H.... Brice A.	1997	GJB1
41	Charcot-Marie-Tooth disease and related peripheral neuropathies. (10975746)	De Jonghe P.... Van Broeckhoven C.	1997	GJB1, PMP22, MPZ
42	A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. (9040744)	Marrosu M.G.... Muntoni F.	1997	PMP22
43	Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. (8786387)	Haney C.... Trapp B.D.	1996	PMP22
44	Cation binding at the node of Ranvier in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. (8781657)	Yoshikawa H.... Yanagihara T.	1996	PMP22, MPZ
45	Mutations in the myelin protein zero gene associated with Charcot- Marie-Tooth disease type 1B. (7550231)	Latour P.... Vandenberghe A.	1995	MPZ
46	Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication (7612387)	Yamamoto M.... Hayasaka K.	1995	PMP22
47	Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie- Tooth disease (CMTX1). (8162049)	Fairweather N.... Haites N.E.	1994	GJB1
48	Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. (7518101)	Patel P.I.... Lupski J.R.	1994	PMP22, MPZ
49	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. (8510709)	Roa B.B.... Lupski J.R.	1993	PMP22
50	Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. (1552536)	MacMillan J.C.... Harper P.S.	1992	PMP22

Genes related to charcot-marie-tooth disease according to GeneCards:

(show top 50)    (show all 91)

id	Symbol	Description	Score	GeneCards Section Context
1	MPZ	myelin protein zero	11.1	Summaries, Publications
2	GDAP1	ganglioside induced differentiation associated protein 1	11.1	Publications, Summaries
3	EGR2	early growth response 2	11.1	Summaries, Publications
4	NEFL	neurofilament, light polypeptide	11.1	Summaries, Publications
5	PMP22	peripheral myelin protein 22	11.1	Publications, Summaries
6	MFN2	mitofusin 2	11.1	Summaries, Publications
7	KIF1B	kinesin family member 1B	11.1	Summaries, Publications
8	HSPB1	heat shock 27kDa protein 1	11.1	Summaries, Publications
9	GJB1	gap junction protein, beta 1, 32kDa	11.1	Publications, Summaries
10	MTMR2	myotubularin related protein 2	11.1	Orthologs, Publications, Summaries
11	LITAF	lipopolysaccharide-induced TNF factor	11.1	Summaries, Publications
12	NDRG1	N-myc downstream regulated 1	11.1	Summaries, Publications
13	LMNA	lamin A/C	11.1	Publications, Summaries
14	SBF2	SET binding factor 2	11.1	Publications, Summaries, Orthologs
15	MED25	mediator complex subunit 25	11.1	Summaries, Publications
16	HSPB8	heat shock 22kDa protein 8	11.1	Summaries, Publications
17	HOXD10	homeobox D10	11.1	Summaries, Publications
18	SH3TC2	SH3 domain and tetratricopeptide repeats 2	11.1	Summaries, Publications
19	PRPS1	phosphoribosyl pyrophosphate synthetase 1	11.1	Summaries
20	FIG4	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	11.1	Summaries
21	FGD4	FYVE, RhoGEF and PH domain containing 4	11.1	Summaries, Publications
22	DVL1	dishevelled, dsh homolog 1 (Drosophila)	11.1	Summaries
23	CMTDI2	Charcot-Marie-Tooth disease, dominant intermediate 2	11.1	Aliases & Descriptions
24	CMT2G	Charcot-Marie-Tooth disease, axonal, type 2G	11.1	Aliases & Descriptions
25	LRSAM1	leucine rich repeat and sterile alpha motif containing 1	11.1	Publications, Summaries
26	NRG2	neuregulin 2	11.1	Publications, Summaries
27	CMT2H	Charcot-Marie-Tooth disease, axonal, type 2H	11.1	Publications, Aliases & Descriptions
28	CMT1A	Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)	11.1	Publications
29	DNM2	dynamin 2	11.1	Publications
30	PRX	periaxin	11.1	Publications
31	GARS	glycyl-tRNA synthetase	11.1	Publications
32	RAB7A	RAB7A, member RAS oncogene family	11.1	Publications
33	CMT2B	Charcot-Marie-Tooth neuropathy 2B	11.1
34	AARS	alanyl-tRNA synthetase	11.1	Publications
35	YARS	tyrosyl-tRNA synthetase	11.1	Publications
36	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.1	Publications
37	NTF3	neurotrophin 3	11.1	Publications
38	SBF1	SET binding factor 1	11.1	Publications, Orthologs
39	EMP2	epithelial membrane protein 2	11.1	Publications
40	MYH6	myosin, heavy chain 6, cardiac muscle, alpha	11.1	Publications
41	PLP1	proteolipid protein 1	11.1	Publications
42	ERBB3	v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	11.1	Publications
43	ERBB2	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	11.1	Publications
44	DLX4	distal-less homeobox 4	11.1	Publications
45	GZMH	granzyme H (cathepsin G-like 2, protein h-CCPX)	11.1
46	KIF2B	kinesin family member 2B	11.1	Publications
47	KIF20A	kinesin family member 20A	11.1	Publications
48	TSPAN4	tetraspanin 4	11.1
49	NEFM	neurofilament, medium polypeptide	11.1	Publications
50	NAB1	NGFI-A binding protein 1 (EGR1 binding protein 1)	11.1

Pathways related to charcot-marie-tooth disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Endocytosis20	9.2	RAB7A, RAB11A, ERBB3, TSG101, DNM1L, DNM2

Compounds related to charcot-marie-tooth disease according to GeneDecks:

(show all 19)

id	Compound	Score	Top Affiliating Genes
1	phosphatidylinositol 3-phosphate32	10.7	MTM1
2	2,3-cyclic nucleotide32	10.2	MPZ, MAG, PLP1
3	ganglioside32	10.1	PMP22, NTF3, MAG, MPZ, CNTF
4	tyrosine32	8.1	GARS, DARC, NTF3, NRG2, PLEK, EGR2
5	atp32	7.7	TOMM40, DNM1L, OPA1, POLG, NEFL, AARS
6	lipid32	7.3	CNTF, PLEK, PLP1, NDUFS4, HIP1, TTF2
7	cysteine32	INF	NDRG1, NDUFS4, TTF2, PMP22, NEDD4, GARS
8	pyrophosphate32 18	INF	GARS, AARS, NEDD4, POLG, PRPS1, LRSAM1
9	arginine32	INF	GJB1, ERBB2, NTF3, PLEK, PLP1, PMP22
10	phosphoric acid32 18	INF	GARS, AARS, NEDD4, POLG, PRPS1, LRSAM1
11	serine32	INF	SPTLC1, PLEK, NDRG1, NDUFS4, TTF2, PMP22
12	aminoacyl-trna32	INF	GARS, AARS, , YARS
13	Adenosine monophosphate9 18 9	INF	GARS, AARS, NEDD4, PRPS1, LRSAM1,
14	alanine32	INF	PLEK, TTF2, POLG, NEDD4, NEFM, AARS
15	anticodon32	INF	GARS, AARS, , YARS
16	gaba32 42	INF	GARS, PMP22, PLP1, NTF3, GJB1,
17	trna32	INF	GARS, AARS, TTF2, , YARS
18	calcium32 9 18 9	INF	PLEK, PLP1, NDRG1, NDUFS4, TTF2, DNM1L
19	threonine32	INF	NDUFS4, NDRG1, PLEK, NTF3, PTPN12, ERBB3

Cellular components related to charcot-marie-tooth disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neurofilament	GO:005883	10.2	PRPH, NEFL, NEFM
2	cytosol	GO:005829	INF	MYH6, NDRG1, DVL1, DNM1L, DNM2, PRPS1
3	cytoplasm	GO:005737	INF	TSG101, TTF2, HIP1, EGR2, LRSAM1, NDRG1

Biological processes related to charcot-marie-tooth disease according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	peripheral nervous system development	GO:007422	10.4	PMP22, SOX10, EGR2, NTF3, ERBB3
2	non-lytic virus budding	GO:046755	10.3	LRSAM1, TSG101
3	Schwann cell differentiation	GO:014037	10.3	EGR2, ERBB3, NAB1, NAB2
4	mitochondrial fusion	GO:008053	10.2	MFN1, MFN2, OPA1
5	myelination	GO:042552	10.0	NAB2, NAB1, LPAR1, SBF2, NTF3, EGR2
6	cell death	GO:008219	9.9	GARS, POLG, PLP1, DYNC1H1, TRPV4, HSPB8
7	cellular membrane organization	GO:016044	9.5	HGS, DNM2, TSG101, GJB2, GJB1
8	diadenosine tetraphosphate biosynthetic process	GO:015966	INF	, GARS
9	tRNA aminoacylation for protein translation	GO:006418	INF	GARS, AARS, , YARS

Molecular functions related to charcot-marie-tooth disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activity	GO:003924	9.4	DNM2, DNM1L, MFN2, MFN1, RAB11A, RAB7A
2	protein binding	GO:005515	4.4	HGS, NDRG1, LRSAM1, EGR2, HIP1, TTF2