MCID: CHR687
MIFTS: 40

Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

MalaCards integrated aliases for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

Name: Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 58
Charcot-Marie-Tooth Hereditary Neuropathy 58
Cmt/hmsn 58

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant,X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 44 D002607
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C0007959
Orphanet 58 ORPHA166

Summaries for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

MalaCards based summary : Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy, also known as charcot-marie-tooth hereditary neuropathy, is related to charcot-marie-tooth hereditary neuropathy and hereditary neuropathies. An important gene associated with Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy is MFN2 (Mitofusin 2). The drugs protease inhibitors and HIV Protease Inhibitors have been mentioned in the context of this disorder. Related phenotypes are scoliosis and ataxia

Related Diseases for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 34.9 IGHMBP2 GARS1
2 hereditary neuropathies 31.2 MFN2 LMNA HSPB1 GJB1 DNAJB2
3 sensory peripheral neuropathy 31.2 MFN2 KIF1B GJB1 GDAP1 GARS1 FGD4
4 charcot-marie-tooth disease, demyelinating, type 1a 31.1 MFN2 KIF1B GJB1 GDAP1 EGR2
5 charcot-marie-tooth disease, type 4a 30.9 MFN2 KIF1B GJB1 GDAP1 EGR2 DNAJB2
6 charcot-marie-tooth disease, x-linked dominant, 1 30.9 MFN2 KIF1B GJB1 GDAP1 GARS1 EGR2
7 charcot-marie-tooth disease, demyelinating, type 1c 30.9 KIF1B GJB1 GDAP1 FIG4 FGD4 EGR2
8 3-methylglutaconic aciduria, type iii 30.9 MFN2 INF2 GJB1 GDAP1
9 charcot-marie-tooth disease, demyelinating, type 1b 30.7 MFN2 KIF1B GJB1 GDAP1 GARS1 EGR2
10 neuropathy 29.9 MFN2 LMNA IGHMBP2 HSPB8 HSPB1 GJB1
11 tooth disease 29.6 MFN2 LMNA KIF1B INF2 IGHMBP2 HSPB8
12 charcot-marie-tooth disease 28.9 MFN2 LMNA KIF1B INF2 IGHMBP2 HSPB8
13 charcot-marie-tooth disease type 2a 10.6 MFN2 KIF1B
14 charcot-marie-tooth neuropathy type 2a 10.5 MFN2 KIF1B
15 abnormal pupillary function 10.5 GDAP1 EGR2
16 charcot-marie-tooth disease, axonal, type 2h 10.5 GDAP1 DNAJB2
17 charcot-marie-tooth disease, recessive intermediate b 10.5 GARS1 AARS1
18 charcot-marie-tooth disease, x-linked recessive, 2 10.5 GJB1 EGR2
19 charcot-marie-tooth disease, recessive intermediate a 10.5 MFN2 GDAP1 DNAJB2
20 distal hereditary motor neuronopathy type 2 10.5 HSPB8 HSPB1
21 neuropathy, hereditary motor and sensory, russe type 10.5 GDAP1 EGR2 CTDP1
22 usher syndrome, type iiib 10.5 GARS1 AARS1
23 autosomal dominant intermediate charcot-marie-tooth 10.5 INF2 IGHMBP2
24 charcot-marie-tooth disease, dominant intermediate c 10.5 GDAP1 GARS1 AARS1
25 charcot-marie-tooth disease, dominant intermediate a 10.5 GJB1 GDAP1 CTDP1
26 spinal muscular atrophy, distal, autosomal recessive, 2 10.5 MFN2 HSPB8 GARS1
27 hereditary sensory and autonomic neuropathy type 1 10.5 GDAP1 DNMT1 ATL1
28 hereditary sensory neuropathy 10.5 ELP1 DNMT1 ATL1
29 charcot-marie-tooth disease, dominant intermediate e 10.5 INF2 GDAP1
30 branchiootic syndrome 1 10.5
31 auditory neuropathy spectrum disorder 10.5
32 charcot-marie-tooth disease, type 4j 10.4 GDAP1 FIG4 FGD4
33 charcot-marie-tooth disease, type 4h 10.4 GDAP1 FIG4 FGD4
34 charcot-marie-tooth disease, type 4b1 10.4 GDAP1 FIG4 FGD4
35 charcot-marie-tooth disease, axonal, type 2r 10.4 GDAP1 DNAJB2
36 autosomal dominant distal hereditary motor neuronopathy 10.4 LMNA IGHMBP2
37 charcot-marie-tooth disease, axonal, type 2t 10.4 IGHMBP2 GDAP1 DNAJB2
38 charcot-marie-tooth disease, axonal, type 2p 10.4 GDAP1 DNAJB2
39 rigid spine muscular dystrophy 1 10.4 LMNA BAG3 AARS1
40 distal hereditary motor neuropathies 10.4 IGHMBP2 GARS1
41 charcot-marie-tooth disease, axonal, type 2k 10.4 GDAP1 DNAJB2
42 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4 LMNA HSPB8 BAG3
43 proximal spinal muscular atrophy 10.4 LMNA KIF1B
44 charcot-marie-tooth disease, axonal, type 2a1 10.4 MFN2 KIF1B GDAP1 AARS1
45 charcot-marie-tooth disease, axonal, type 2b2 10.4 MFN2 KIF1B GDAP1 DNAJB2
46 charcot-marie-tooth disease, axonal, type 2j 10.4 MFN2 KIF1B GDAP1 EGR2
47 charcot-marie-tooth disease, demyelinating, type 1f 10.4 GJB1 FGD4
48 charcot-marie-tooth disease, axonal, type 2b1 10.4 MFN2 LMNA GDAP1 DNAJB2
49 spastic paraplegia 55, autosomal recessive 10.4 GDAP1 DNAJB2
50 charcot-marie-tooth disease, type 4b2 10.3 GJB1 GDAP1 FIG4 FGD4

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:



Diseases related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Human phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
5 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
6 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
7 decreased nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000762
8 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
9 paralysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003470
10 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
11 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
12 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
13 distal amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003693

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.17 GJB1
2 Decreased viability GR00107-A-1 10.17 HSPB8
3 Decreased viability GR00221-A-1 10.17 ELP1 HSPB8
4 Decreased viability GR00221-A-2 10.17 ELP1
5 Decreased viability GR00221-A-4 10.17 HSPB8
6 Decreased viability GR00240-S-1 10.17 LMNA
7 Decreased viability GR00301-A 10.17 ELP1 HSPB8
8 Decreased viability GR00381-A-1 10.17 FGD4 FIG4 HSPB1 INF2
9 Decreased viability GR00402-S-2 10.17 AARS1 ATL1 BAG3 CTDP1 DNAJB2 DNMT1
10 no effect GR00402-S-1 9.62 AARS1 ATL1 BAG3 CTDP1 DNAJB2 DNMT1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 AARS1 ATL1 BAG3 DNMT1 EGR2 ELP1
2 cardiovascular system MP:0005385 10.25 AARS1 BAG3 EGR2 ELP1 FIG4 GDAP1
3 growth/size/body region MP:0005378 10.24 AARS1 BAG3 DNMT1 EGR2 ELP1 FGD4
4 cellular MP:0005384 10.18 AARS1 BAG3 DNMT1 EGR2 ELP1 GDAP1
5 integument MP:0010771 9.97 AARS1 BAG3 DNMT1 EGR2 ELP1 FIG4
6 mortality/aging MP:0010768 9.97 AARS1 BAG3 DNMT1 EGR2 ELP1 FIG4
7 limbs/digits/tail MP:0005371 9.8 ATL1 EGR2 ELP1 FIG4 GDAP1 KIF1B
8 muscle MP:0005369 9.65 AARS1 BAG3 ELP1 FIG4 GARS1 HSPB8
9 nervous system MP:0003631 9.44 AARS1 DNMT1 EGR2 ELP1 FGD4 FIG4

Drugs & Therapeutics for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Drugs for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
protease inhibitors
2 HIV Protease Inhibitors
3 4-des-dimethylaminotetracycline
4 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
2 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075

Search NIH Clinical Center for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy

Genetic Tests for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Anatomical Context for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Publications for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Articles related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

# Title Authors PMID Year
1
Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. 61
24654889 2014
2
Rehabilitation interventions for foot drop in neuromuscular disease. 61
17443532 2007
3
[Hereditary motor and sensory neuropathy of Charcot-Marie-Tooth disease]. 61
7735430 1995
4
Degeneration of anterior horn cell in neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type II): a Golgi study. 61
7687811 1993
5
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. 61
1683643 1991
6
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). 61
2239969 1990
7
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. 61
3467805 1987
8
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease. 61
6295678 1982
9
Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. 61
6157795 1980

Variations for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSPB1 NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)SNV Pathogenic 157529 rs587781250 7:75933134-75933134 7:76303817-76303817
2 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
3 MARS1 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)SNV Pathogenic 187857 rs781249411 12:57909709-57909709 12:57515926-57515926
4 GJB1 NM_000166.6(GJB1):c.116C>T (p.Ala39Val)SNV Pathogenic 188136 rs786204095 X:70443673-70443673 X:71223823-71223823
5 MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)SNV Pathogenic 208148 rs281865128 1:161276216-161276216 1:161306426-161306426
6 MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)SNV Pathogenic 208146 rs797044845 1:161277101-161277101 1:161307311-161307311
7 MFN2 NM_014874.3(MFN2):c.746C>T (p.Ser249Phe)SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025
8 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>ASNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009
9 SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=)SNV Pathogenic 216120 rs776221160 5:148427425-148427425 5:149047862-149047862
10 GJB1 NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)SNV Pathogenic 216038 rs779696968 X:70443862-70443862 X:71224012-71224012
11 MPZ NM_000530.8(MPZ):c.646-10_650deldeletion Pathogenic 217234 rs863225026 1:161275763-161275777 1:161305973-161305987
12 MPZ NM_000530.8(MPZ):c.90C>G (p.Ile30Met)SNV Pathogenic 217235 rs770546306 1:161277192-161277192 1:161307402-161307402
13 DNAJB2 NM_001039550.2(DNAJB2):c.352+1G>ASNV Pathogenic 217886 rs756614404 2:220146784-220146784 2:219282062-219282062
14 MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503
15 MORC2 NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)SNV Pathogenic 218308 rs864309504 22:31345795-31345795 22:30949809-30949809
16 MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)SNV Pathogenic 221065 rs864622732 1:161277176-161277176 1:161307386-161307386
17 SH3TC2 NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs)deletion Pathogenic 220822 rs864622664 5:148389857-148389857 5:149010294-149010294
18 GJB1 NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)SNV Pathogenic 234612 rs116840821 X:70444113-70444113 X:71224263-71224263
19 RETREG1 NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter)SNV Pathogenic 328 rs137852739 5:16477845-16477845 5:16477736-16477736
20 RETREG1 NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter)SNV Pathogenic 330 rs137852737 5:16565897-16565897 5:16565788-16565788
21 HSPB1 NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)SNV Pathogenic 220419 rs770272088 7:75932279-75932279 7:76302962-76302962
22 GDAP1 NM_018972.4(GDAP1):c.579+1G>ASNV Pathogenic 220379 rs864622501 8:75274214-75274214 8:74361979-74361979
23 MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)SNV Pathogenic 2268 rs28940291 1:12052717-12052717 1:11992660-11992660
24 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)SNV Pathogenic 2269 rs28940292 1:12071567-12071567 1:12011510-12011510
25 MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His)SNV Pathogenic 2271 rs28940294 1:12061480-12061480 1:12001423-12001423
26 MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)SNV Pathogenic 2278 rs119103265 1:12062090-12062090 1:12002033-12002033
27 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)SNV Pathogenic 2281 rs119103268 1:12052746-12052746 1:11992689-11992689
28 SH3TC2 NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)SNV Pathogenic 2483 rs80338934 5:148389835-148389835 5:149010272-149010272
29 HSPB8 NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn)SNV Pathogenic 2617 rs104894345 12:119624885-119624885 12:119187080-119187080
30 HSPB8 NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)SNV Pathogenic 2618 rs104894351 12:119624883-119624883 12:119187078-119187078
31 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)SNV Pathogenic 4193 rs104894077 8:75274121-75274121 8:74361886-74361886
32 GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)SNV Pathogenic 4198 rs104894078 8:75272419-75272419 8:74360184-74360184
33 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005
34 KIF1B NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu)SNV Pathogenic 4658 rs121908160 1:10318660-10318660 1:10258602-10258602
35 TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)SNV Pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823
36 TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820
37 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666
38 CTDP1 NM_004715.4(CTDP1):c.863+389C>TSNV Pathogenic 5301 rs113994102 18:77470825-77470825 18:79710825-79710825
39 ELP1 NM_003640.5(ELP1):c.2204+6T>CSNV Pathogenic 6085 rs111033171 9:111662096-111662096 9:108899816-108899816
40 YARS1 NM_003680.3(YARS1):c.586G>A (p.Glu196Lys)SNV Pathogenic 6189 rs121908834 1:33263369-33263369 1:32797768-32797768
41 RAB7A NM_004637.5(RAB7A):c.484G>A (p.Val162Met)SNV Pathogenic 7346 rs121909079 3:128526470-128526470 3:128807627-128807627
42 AARS1 NM_001605.2(AARS1):c.986G>A (p.Arg329His)SNV Pathogenic 8466 rs267606621 16:70302259-70302259 16:70268356-70268356
43 MT-ATP6 NC_012920.1:m.9185T>CSNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185
44 GJB1 NM_000166.6(GJB1):c.415G>A (p.Val139Met)SNV Pathogenic 10433 rs104894812 X:70443972-70443972 X:71224122-71224122
45 GJB1 NM_000166.6(GJB1):c.283G>A (p.Val95Met)SNV Pathogenic 10441 rs104894821 X:70443840-70443840 X:71223990-71223990
46 GJB1 NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)SNV Pathogenic 10446 rs104894824 X:70443721-70443721 X:71223871-71223871
47 MPZ NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)SNV Pathogenic 14166 rs121913583 1:161276660-161276660 1:161306870-161306870
48 MPZ NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)SNV Pathogenic 14167 rs121913584 1:161276676-161276676 1:161306886-161306886
49 MPZ NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)SNV Pathogenic 14174 rs121913589 1:161276653-161276653 1:161306863-161306863
50 MPZ NM_000530.8(MPZ):c.242A>G (p.His81Arg)SNV Pathogenic 14179 rs121913594 1:161276704-161276704 1:161306914-161306914

Expression for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy.

Pathways for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

GO Terms for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

Cellular components related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.53 KIF1B INF2 IGHMBP2 HSPB8 HSPB1 GJB1
2 chaperone complex GO:0101031 8.96 HSPB8 BAG3

Biological processes related to Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.16 MFN2 GDAP1
2 response to unfolded protein GO:0006986 9.13 MFN2 HSPB1 DNAJB2
3 positive regulation of aggrephagy GO:1905337 8.62 HSPB8 BAG3

Sources for Charcot-Marie-Tooth Disease/hereditary Motor and Sensory...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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