MCID: CHR687
MIFTS: 41

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 sensory peripheral neuropathy. An important gene associated with Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy is MFN2 (Mitofusin 2). Related phenotypes are scoliosis and kyphosis

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 93)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 35.0 IGHMBP2 GARS1
2 sensory peripheral neuropathy 31.7 MFN2 GJB1 GDAP1 FGD4 EGR2
3 hereditary neuropathies 31.6 MFN2 HSPB1 GJB1 DNAJB2
4 charcot-marie-tooth disease, demyelinating, type 1a 31.3 MFN2 GJB1 GDAP1 FGD4 EGR2
5 charcot-marie-tooth disease, demyelinating, type 1c 31.1 GJB1 GDAP1 GARS1 FIG4 FGD4 EGR2
6 charcot-marie-tooth disease, demyelinating, type 1b 31.1 MFN2 GJB1 GDAP1 GARS1 EGR2
7 charcot-marie-tooth disease, type 4a 31.0 MFN2 HSPB8 GJB1 GDAP1 GARS1 EGR2
8 tooth disease 30.3 MFN2 IGHMBP2 HSPB8 HSPB1 HINT1 GJB1
9 neuropathy 30.3 MFN2 IGHMBP2 HSPB8 HSPB1 HINT1 GJB1
10 charcot-marie-tooth disease 29.8 MFN2 IGHMBP2 HSPB8 HSPB1 HINT1 GJB1
11 neuropathy, hereditary sensory, type id 10.6 DNM2 ATL1
12 charcot-marie-tooth disease type 5 10.6 GARS1 DYNC1H1
13 genetic motor neuron disease 10.6 MFN2 GARS1 DYNC1H1
14 argyll robertson pupil 10.6 GDAP1 EGR2
15 pupil disease 10.6 GDAP1 EGR2
16 charcot-marie-tooth disease type 2a2a 10.6 MFN2 IGHMBP2 DNAJB2
17 abnormal pupillary function 10.6 GDAP1 EGR2
18 giant axonal neuropathy 2 10.5 HSPB8 BAG3
19 charcot-marie-tooth disease, axonal, type 2h 10.5 GDAP1 DNAJB2
20 charcot-marie-tooth disease, axonal, type 2w 10.5 MFN2 GJB1 GDAP1
21 charcot-marie-tooth disease, dominant intermediate e 10.5 GDAP1 DYNC1H1 DNM2
22 charcot-marie-tooth disease, axonal, type 2u 10.5 GJB1 GARS1 AARS1
23 neuropathy, hereditary motor and sensory, russe type 10.5 GDAP1 EGR2 CTDP1
24 charcot-marie-tooth disease, axonal, type 2n 10.5 GDAP1 GARS1 AARS1
25 myopathy, myofibrillar, 6 10.5 HSPB8 BAG3
26 charcot-marie-tooth disease, axonal, type 2r 10.5 GDAP1 DNAJB2
27 charcot-marie-tooth disease, recessive intermediate a 10.5 MFN2 HSPB8 GDAP1
28 muscular dystrophy, limb-girdle, autosomal dominant 1 10.5 HSPB8 DNAJB2 BAG3
29 charcot-marie-tooth disease, axonal, type 2j 10.5 GDAP1 GARS1 EGR2
30 charcot-marie-tooth disease, recessive intermediate b 10.5 GARS1 AARS1
31 spinal muscular atrophy, distal, autosomal recessive, 2 10.5 MFN2 HSPB8 GARS1
32 spinal muscular atrophy with lower extremity predominance 10.5 IGHMBP2 GARS1 DYNC1H1
33 charcot-marie-tooth disease, x-linked recessive, 2 10.5 MFN2 GJB1 EGR2 DYNC1H1
34 charcot-marie-tooth disease, dominant intermediate b 10.5 GJB1 GDAP1 DNM2
35 charcot-marie-tooth disease, demyelinating, type 1f 10.5 GJB1 GDAP1 DYNC1H1
36 charcot-marie-tooth disease, type 4h 10.5 GDAP1 FIG4 FGD4
37 neuronopathy, distal hereditary motor, type iic 10.5 IGHMBP2 HSPB8
38 charcot-marie-tooth disease, dominant intermediate a 10.5 GJB1 GDAP1 DNM2 CTDP1
39 charcot-marie-tooth disease, type 4j 10.5 GDAP1 FIG4 FGD4
40 charcot-marie-tooth disease, axonal, type 2t 10.5 IGHMBP2 GDAP1 DNAJB2
41 charcot-marie-tooth disease, axonal, type 2p 10.5 GDAP1 DNAJB2
42 hereditary sensory neuropathy 10.5 GDAP1 ELP1 DNMT1 ATL1
43 branchiootic syndrome 1 10.5
44 auditory neuropathy spectrum disorder 10.5
45 charcot-marie-tooth disease, type 4c 10.5 GJB1 GDAP1 FGD4
46 charcot-marie-tooth disease, type 4b1 10.5 GDAP1 FIG4 FGD4 DNM2
47 charcot-marie-tooth disease, axonal, type 2k 10.5 HSPB8 GDAP1 DYNC1H1 DNAJB2
48 motor neuron disease 10.4 MFN2 HSPB1 GARS1 DYNC1H1
49 pontocerebellar hypoplasia, type 6 10.4 GARS1 AARS1
50 distal hereditary motor neuropathies 10.4 IGHMBP2 GARS1

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

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 GJB1
2 Decreased viability GR00055-A-2 9.7 GJB1
3 Decreased viability GR00107-A-1 9.7 HSPB8
4 Decreased viability GR00221-A-1 9.7 ELP1 HSPB8
5 Decreased viability GR00221-A-2 9.7 ELP1
6 Decreased viability GR00221-A-4 9.7 HSPB8
7 Decreased viability GR00249-S 9.7 ATL1 BAG3 GJB1 HSPB1
8 Decreased viability GR00301-A 9.7 ELP1 HSPB8
9 Decreased viability GR00381-A-1 9.7 FGD4 FIG4 HSPB1
10 Decreased viability GR00386-A-1 9.7 BAG3 DNMT1 EGR2 HINT1
11 Decreased viability GR00402-S-2 9.7 ELP1 FGD4 GARS1 GJB1

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 10.34 AARS1 ATL1 BAG3 DNAJB2 DNMT1 DYNC1H1
2 growth/size/body region MP:0005378 10.2 AARS1 BAG3 DNM2 DNMT1 DYNC1H1 EGR2
3 cardiovascular system MP:0005385 10.18 AARS1 BAG3 DNM2 DYNC1H1 EGR2 ELP1
4 cellular MP:0005384 10.18 AARS1 BAG3 DNM2 DNMT1 EGR2 ELP1
5 mortality/aging MP:0010768 9.97 AARS1 BAG3 DNM2 DNMT1 DYNC1H1 EGR2
6 integument MP:0010771 9.86 AARS1 BAG3 DNAJB2 DNMT1 EGR2 ELP1
7 muscle MP:0005369 9.65 AARS1 BAG3 DNM2 DYNC1H1 ELP1 FIG4
8 nervous system MP:0003631 9.47 AARS1 DNM2 DNMT1 DYNC1H1 EGR2 ELP1

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

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:

6 (show top 50) (show all 3201) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPZ NM_000530.8(MPZ):c.224A>T (p.Asp75Val)SNV Pathogenic 14184 rs121913597 1:161277058-161277058 1:161307268-161307268
2 MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)SNV Pathogenic 14185 rs121913598 1:161277151-161277151 1:161307361-161307361
3 MPZ NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)SNV Pathogenic 14188 rs121913601 1:161277049-161277049 1:161307259-161307259
4 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met)SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785
5 LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)SNV Pathogenic 14487 rs57318642 1:156106994-156106994 1:156137203-156137203
6 LMNA NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)SNV Pathogenic 14488 rs60864230 1:156100449-156100449 1:156130658-156130658
7 LMNA NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)SNV Pathogenic 14489 rs57920071 1:156106775-156106775 1:156136984-156136984
8 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
9 LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His)SNV Pathogenic 14499 rs57520892 1:156106995-156106995 1:156137204-156137204
10 EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563
11 GJB1 NM_000166.6(GJB1):c.187G>A (p.Val63Ile)SNV Pathogenic 21081 rs116840818 X:70443744-70443744 X:71223894-71223894
12 GJB1 NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)SNV Pathogenic 21082 rs116840819 X:70443780-70443780 X:71223930-71223930
13 GJB1 NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)SNV Pathogenic 21084 rs116840815 X:70443600-70443600 X:71223750-71223750
14 GJB1 NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)SNV Pathogenic 21086 rs116840821 X:70444113-70444113 X:71224263-71224263
15 RETREG1 NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs)deletion Pathogenic 21257 rs137852736 5:16617062-16617063 5:16616953-16616954
16 SH3TC2 NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)SNV Pathogenic 21689 rs80338925 5:148407326-148407326 5:149027763-149027763
17 DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)SNV Pathogenic 30029 rs387906738 14:102446843-102446843 14:101980506-101980506
18 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009
19 ATL1 NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys)SNV Pathogenic 30579 rs1555365597 14:51089912-51089912 14:50623194-50623194
20 LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs)duplication Pathogenic 30860 rs786200930 9:130265125-130265126 9:127502846-127502847
21 GDAP1 NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)SNV Pathogenic 38411 rs281865060 8:75272408-75272408 8:74360173-74360173
22 FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg)SNV Pathogenic 38445 rs63749871 12:32755151-32755151 12:32602217-32602217
23 EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His)SNV Pathogenic 41008 rs281865137 10:64573256-64573256 10:62813496-62813496
24 MPZ NM_000530.8(MPZ):c.244T>C (p.Tyr82His)SNV Pathogenic 41017 rs281865124 1:161276702-161276702 1:161306912-161306912
25 MPZ NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)SNV Pathogenic 41024 rs267607247 1:161275743-161275743 1:161305953-161305953
26 NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)SNV Pathogenic 41236 rs58982919 8:24813737-24813737 8:24956223-24956223
27 LITAF NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)SNV Pathogenic 41229 rs281865134 16:11647434-11647434 16:11553578-11553578
28 GDAP1 NM_018972.4(GDAP1):c.368A>G (p.His123Arg)SNV Pathogenic 50558 rs397515442 8:75272429-75272429 8:74360194-74360194
29 NEFL NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)SNV Pathogenic 66671 rs62636503 8:24811293-24811293 8:24953779-24953779
30 NEFL NM_006158.4(NEFL):c.23C>A (p.Pro8Gln)SNV Pathogenic 66687 rs61491953 8:24814007-24814007 8:24956493-24956493
31 LMNA NM_170707.4(LMNA):c.1908C>T (p.Ser636=)SNV Pathogenic 66875 rs80356814 1:156108488-156108488 1:156138697-156138697
32 NEFL NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu)SNV Pathogenic 155738 rs587777882 8:24811160-24811160 8:24953646-24953646
33 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
34 MARS1 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)SNV Pathogenic 187857 rs781249411 12:57909709-57909709 12:57515926-57515926
35 GJB1 NM_000166.6(GJB1):c.116C>T (p.Ala39Val)SNV Pathogenic 188136 rs786204095 X:70443673-70443673 X:71223823-71223823
36 NEFL NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)SNV Pathogenic 192322 rs191346286 8:24811218-24811218 8:24953704-24953704
37 MFN2 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025
38 MPZ NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)SNV Pathogenic 208149 rs121913586 1:161276204-161276204 1:161306414-161306414
39 MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)SNV Pathogenic 208148 rs281865128 1:161276216-161276216 1:161306426-161306426
40 MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)SNV Pathogenic 208146 rs797044845 1:161277101-161277101 1:161307311-161307311
41 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>ASNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009
42 SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=)SNV Pathogenic 216120 rs776221160 5:148427425-148427425 5:149047862-149047862
43 GJB1 NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)SNV Pathogenic 216038 rs779696968 X:70443862-70443862 X:71224012-71224012
44 MPZ NM_000530.8(MPZ):c.646-10_650deldeletion Pathogenic 217234 rs863225026 1:161275763-161275777 1:161305973-161305987
45 MPZ NM_000530.8(MPZ):c.90C>G (p.Ile30Met)SNV Pathogenic 217235 rs770546306 1:161277192-161277192 1:161307402-161307402
46 PMP22 NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)SNV Pathogenic 217237 rs863225028 17:15134390-15134390 17:15231073-15231073
47 DNAJB2 NM_006736.6(DNAJB2):c.352+1G>ASNV Pathogenic 217886 rs756614404 2:220146784-220146784 2:219282062-219282062
48 MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503
49 MORC2 NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)SNV Pathogenic 218308 rs864309504 22:31345795-31345795 22:30949809-30949809
50 MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)SNV Pathogenic 221065 rs864622732 1:161277176-161277176 1:161307386-161307386

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 cytosol GO:0005829 9.77 MFN2 HSPB8 HSPB1 HINT1 GDAP1 GARS1
2 cytoplasm GO:0005737 9.55 IGHMBP2 HSPB8 HSPB1 HINT1 GJB1 GDAP1
3 chaperone complex GO:0101031 9.16 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 fission GO:0000266 9.26 GDAP1 DNM2
2 mitochondrial fusion GO:0008053 9.16 MFN2 GDAP1
3 response to unfolded protein GO:0006986 9.13 MFN2 HSPB1 DNAJB2
4 positive regulation of aggrephagy GO:1905337 8.62 HSPB8 BAG3

Molecular functions 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 nucleotide binding GO:0000166 9.76 MFN2 IGHMBP2 HINT1 GARS1 DYNC1H1 DNM2
2 hydrolase activity GO:0016787 9.23 MFN2 IGHMBP2 HINT1 GARS1 FIG4 DNM2
3 tRNA binding GO:0000049 9.13 IGHMBP2 ELP1 AARS1

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

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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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