CMT1E
MCID: CHR629
MIFTS: 42

Charcot-Marie-Tooth Disease and Deafness (CMT1E)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease and Deafness

MalaCards integrated aliases for Charcot-Marie-Tooth Disease and Deafness:

Name: Charcot-Marie-Tooth Disease and Deafness 57 12 53 29 6
Charcot-Marie-Tooth Disease Type 1e 12 53 59 15
Cmt1e 57 12 59 75
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 57 53 73
Charcot-Marie-Tooth Disease, Type I 29 6 40
Charcot-Marie-Tooth Disease Type 1 12 53 15
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 57 53
Charcot-Marie-Tooth Disease Demyelinating Type 1e 12 75
Hereditary Motor and Sensory Neuropathy Type 1 12 53
Charcot-Marie-Tooth Disease, Type 1e 57 13
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness 12
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 53
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 75
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e; Cmt1e 57
Hereditary Motor and Sensory Neuropathy Type I 73
Charcot-Marie-Tooth Disease-Deafness Syndrome 59
Hereditary Motor and Sensory Neuropathy 1 53
Charcot-Marie-Tooth Neuropathy Type 1e 75
Charcot-Marie-Tooth Neuropathy Type 1 53
Charcot-Marie-Tooth Disease-Deafness 12
Charcot-Marie-Tooth Disease, Type Ie 40
Charcot Marie Tooth Disease Type 1e 53
Charcot-Marie-Tooth Disease 1e 75
Charcot-Marie-Tooth, Type 1 6
Charcot-Marie-Tooth Type 1 53
Cmt 1e 53
Hmsn1 53
Cmt1 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 1e
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
childhood onset
allelic disorders with overlapping phenotypes include cmt1a , hereditary neuropathy with liability to pressure palsies (hnpp, ), and dejerine-sottas syndrome (dss, )


HPO:

32
charcot-marie-tooth disease and deafness:
Onset and clinical course childhood onset juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 118300
Disease Ontology 12 DOID:0050538 DOID:0110153
ICD10 33 G60.0
Orphanet 59 ORPHA90658
MESH via Orphanet 45 C537986 C538078
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C3495591 C1861669 C2931686
MeSH 44 D002607

Summaries for Charcot-Marie-Tooth Disease and Deafness

NIH Rare Diseases : 53 Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. Symptoms often begin between age 5 and 25, and the condition is usually slowly progressive. Signs and symptoms include distal muscle weakness and wasting (atrophy); sensory loss; and slow nerve conduction velocity. It is often associated with pes cavus foot deformity (high arch) and bilateral foot drop. Fewer than 5% of people with CMT1 become wheelchair dependent. CMT1 is inherited in an autosomal dominant manner. There are 6 different subtypes CMT1A CMT1B, CMT1C, CMT1D and CMT1F/ CMT2E, caused by different pathogenic variants (mutations)involving the PMP22 gene (designated CMT1A), or the MPZ, LITAF, EGR2, PMP22 or NEFL genes. Treatment may involve physical or occupational therapy; the use of special shoes, braces or other orthopedic devices; surgery for severe pes cavus; canes or wheelchairs for mobility; and pain medication as needed.

MalaCards based summary : Charcot-Marie-Tooth Disease and Deafness, also known as charcot-marie-tooth disease type 1e, is related to charcot-marie-tooth neuropathy type 1 and charcot-marie-tooth disease, x-linked dominant, 1. An important gene associated with Charcot-Marie-Tooth Disease and Deafness is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include spinal cord and brain, and related phenotypes are sensorineural hearing impairment and split hand

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 1E: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)

Description from OMIM: 118300

Related Diseases for Charcot-Marie-Tooth Disease and Deafness

Diseases related to Charcot-Marie-Tooth Disease and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth neuropathy type 1 34.6 EGR2 GJB1 MPZ PMP22
2 charcot-marie-tooth disease, x-linked dominant, 1 33.7 GDAP1 GJB1 MPZ
3 roussy-levy hereditary areflexic dystasia 33.2 MPZ PMP22
4 charcot-marie-tooth disease, demyelinating, type 1f 33.0 GJB1 MPZ PMP22
5 charcot-marie-tooth disease, demyelinating, type 1c 32.8 KIF1B LITAF MPZ PMP22
6 charcot-marie-tooth disease, demyelinating, type 1d 31.6 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
7 hereditary neuropathy with liability to pressure palsy 31.5 LITAF MPZ PMP22
8 charcot-marie-tooth disease, demyelinating, type 1b 31.3 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
9 polyneuropathy 31.0 GDAP1 MPZ PMP22
10 hereditary neuropathies 30.5 GJB1 MFN2 MPZ MTMR2 PMP22
11 neuropathy 30.4 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
12 charcot-marie-tooth disease, demyelinating, type 1a 29.8 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
13 neuropathy, hereditary, with liability to pressure palsies 28.8 COX10 EGR2 GDAP1 GJB1 KIF1B LITAF
14 tooth disease 28.0 EGR2 GDAP1 GJB1 KIF1B LITAF MFN2
15 peripheral nervous system disease 27.9 ARHGEF10 EGR2 GDAP1 GJB1 MFN2 MPZ
16 charcot-marie-tooth disease 25.5 ACKR1 ARHGEF10 COX10 EGR2 GDAP1 GJB1
17 pmp2-related charcot-marie-tooth disease type 1 12.3
18 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.7
19 congenital hypomyelination neuropathy 10.9 MPZ PMP22
20 foot drop 10.9 MPZ PMP22
21 charcot-marie-tooth disease, x-linked recessive, 2 10.8 GJB1 SULT2B1
22 charcot-marie-tooth disease, axonal, type 2i 10.8 KIF1B MPZ
23 charcot-marie-tooth disease, axonal, type 2j 10.8 KIF1B MPZ
24 charcot-marie-tooth disease, axonal, type 2q 10.8 EGR2 MPZ
25 cauda equina syndrome 10.8 EGR2 PMP22
26 charcot-marie-tooth neuropathy type 2a 10.7 KIF1B MFN2
27 charcot-marie-tooth disease type 2a 10.7 KIF1B MFN2
28 charcot-marie-tooth disease, axonal, type 2a1 10.7 KIF1B MFN2
29 charcot-marie-tooth disease, x-linked recessive, 3 10.7 GJB1 SULT2B1
30 amyotrophic neuralgia 10.6 GJB1 KIF1B PMP22
31 brachial plexus neuropathy 10.6 GJB1 KIF1B PMP22
32 charcot-marie-tooth disease, axonal, type 2f 10.6 GJB1 KIF1B MPZ
33 ulnar neuropathy 10.5 ARHGEF10 PMP22
34 charcot-marie-tooth disease, demyelinating, type 4f 10.5 GDAP1 MTMR2
35 neuropathy, hereditary motor and sensory, russe type 10.5 EGR2 SH3TC2
36 charcot-marie-tooth disease, type 4b3 10.5 GDAP1 MTMR2
37 adie pupil 10.5 ARHGEF10 MPZ
38 diabetic neuropathy 10.5 MPZ NTF3 PMP22
39 charcot-marie-tooth disease, type 4b2 10.5 GDAP1 MTMR2
40 charcot-marie-tooth disease, type 4b1 10.4 GDAP1 MTMR2
41 charcot-marie-tooth disease, axonal, type 2k 10.4 GDAP1 KIF1B MFN2
42 axonal neuropathy 10.4 GDAP1 MFN2 PMP22
43 charcot-marie-tooth disease, type 4a 10.4 GDAP1 MTMR2
44 chronic inflammatory demyelinating polyradiculoneuropathy 10.4 MPZ PMP22
45 mononeuropathy 10.2 ARHGEF10 PMP22 SH3TC2
46 nerve compression syndrome 10.2 ARHGEF10 PMP22
47 chronic inflammatory demyelinating polyneuropathy 10.2
48 demyelinating polyneuropathy 10.2
49 charcot-marie-tooth disease, axonal, type 2l 10.1 KIF1B MPZ
50 hereditary motor and sensory neuropathy, type iic 9.9 GDAP1 GJB1 KIF1B MFN2 MPZ

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease and Deafness:



Diseases related to Charcot-Marie-Tooth Disease and Deafness

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease and Deafness

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
pes calcaneovarus
hammertoes

Head And Neck Ears:
sensorineural hearing loss

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Hands:
claw hand deformities


Clinical features from OMIM:

118300

Human phenotypes related to Charcot-Marie-Tooth Disease and Deafness:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 split hand 32 HP:0001171
3 hyporeflexia 32 HP:0001265
4 areflexia 32 HP:0001284
5 pes cavus 32 HP:0001761
6 hammertoe 32 HP:0001765
7 talipes calcaneovalgus 32 HP:0001884
8 distal muscle weakness 32 HP:0002460
9 distal sensory impairment 32 HP:0002936
10 steppage gait 32 HP:0003376
11 decreased motor nerve conduction velocity 32 HP:0003431
12 limb muscle weakness 32 HP:0003690
13 distal amyotrophy 32 HP:0003693
14 foot dorsiflexor weakness 32 HP:0009027

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease and Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
2 cellular MP:0005384 9.85 ADCY10 COX10 EGR2 GDAP1 GJB1 LITAF
3 homeostasis/metabolism MP:0005376 9.8 ACKR1 ADCY10 COX10 EGR2 GDAP1 GJB1
4 nervous system MP:0003631 9.4 COX10 EGR2 GDAP1 GJB1 KIF1B LITAF

Drugs & Therapeutics for Charcot-Marie-Tooth Disease and Deafness

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease and Deafness

Genetic Tests for Charcot-Marie-Tooth Disease and Deafness

Genetic tests related to Charcot-Marie-Tooth Disease and Deafness:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease and Deafness 29 PMP22
2 Charcot-Marie-Tooth Disease, Type I 29

Anatomical Context for Charcot-Marie-Tooth Disease and Deafness

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease and Deafness:

41
Spinal Cord, Brain

Publications for Charcot-Marie-Tooth Disease and Deafness

Articles related to Charcot-Marie-Tooth Disease and Deafness:

# Title Authors Year
1
A unique point mutation in the PMP22 gene is associated with Charcot- Marie-Tooth disease and deafness. ( 10330345 )
1999

Variations for Charcot-Marie-Tooth Disease and Deafness

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease and Deafness:

75
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Ala67Pro VAR_009661 rs104894623
2 PMP22 p.Thr23Arg VAR_029961
3 PMP22 p.Trp28Arg VAR_029963 rs104894626

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease and Deafness:

6
(show top 50) (show all 563)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh37 Chromosome 17, 15142892: 15142892
2 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh38 Chromosome 17, 15239575: 15239575
3 PMP22 NM_000304.3(PMP22): c.36C> A (p.His12Gln) single nucleotide variant Pathogenic rs104894622 GRCh37 Chromosome 17, 15164009: 15164009
4 PMP22 NM_000304.3(PMP22): c.36C> A (p.His12Gln) single nucleotide variant Pathogenic rs104894622 GRCh38 Chromosome 17, 15260692: 15260692
5 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
6 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh38 Chromosome 17, 15239591: 15239591
7 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh37 Chromosome 17, 15162507: 15162507
8 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh38 Chromosome 17, 15259190: 15259190
9 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh38 Chromosome 17, 15231045: 15231056
10 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh37 Chromosome 17, 15134362: 15134373
11 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh37 Chromosome 17, 15134248: 15134248
12 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh38 Chromosome 17, 15230931: 15230931
13 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh37 Chromosome 1, 161276537: 161276537
14 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh38 Chromosome 1, 161306747: 161306747
15 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
16 MPZ NM_000530.7(MPZ): c.293G> C (p.Arg98Pro) single nucleotide variant Pathogenic rs121913589 GRCh38 Chromosome 1, 161306863: 161306863
17 MPZ NM_000530.7(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh37 Chromosome 1, 161276654: 161276654
18 MPZ NM_000530.7(MPZ): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs121913590 GRCh38 Chromosome 1, 161306864: 161306864
19 MPZ NM_000530.7(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh37 Chromosome 1, 161276653: 161276653
20 MPZ NM_000530.7(MPZ): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs121913589 GRCh38 Chromosome 1, 161306863: 161306863
21 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
22 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
23 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh37 Chromosome 1, 161277151: 161277151
24 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh38 Chromosome 1, 161307361: 161307361
25 MPZ NM_000530.7(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh37 Chromosome 1, 161277049: 161277049
26 MPZ NM_000530.7(MPZ): c.233C> T (p.Ser78Leu) single nucleotide variant Pathogenic rs121913601 GRCh38 Chromosome 1, 161307259: 161307259
27 MPZ NM_000530.7(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh37 Chromosome 1, 161276512: 161276512
28 MPZ NM_000530.7(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh38 Chromosome 1, 161306722: 161306722
29 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh37 Chromosome 10, 64573323: 64573323
30 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh38 Chromosome 10, 62813563: 62813563
31 MPZ NM_000530.7(MPZ): c.487G> C (p.Gly163Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281865128 GRCh37 Chromosome 1, 161276216: 161276216
32 MPZ NM_000530.7(MPZ): c.487G> C (p.Gly163Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281865128 GRCh38 Chromosome 1, 161306426: 161306426
33 MPZ NM_000530.7(MPZ): c.314C> T (p.Pro105Leu) single nucleotide variant Uncertain significance rs786204215 GRCh38 Chromosome 1, 161306842: 161306842
34 MPZ NM_000530.7(MPZ): c.314C> T (p.Pro105Leu) single nucleotide variant Uncertain significance rs786204215 GRCh37 Chromosome 1, 161276632: 161276632
35 MPZ NM_000530.7(MPZ): c.182A> G (p.Asp61Gly) single nucleotide variant Likely pathogenic rs786204119 GRCh37 Chromosome 1, 161277100: 161277100
36 MPZ NM_000530.7(MPZ): c.182A> G (p.Asp61Gly) single nucleotide variant Likely pathogenic rs786204119 GRCh38 Chromosome 1, 161307310: 161307310
37 PMP22 NM_000304.3(PMP22): c.308A> G (p.Gln103Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786204064 GRCh38 Chromosome 17, 15239482: 15239482
38 PMP22 NM_000304.3(PMP22): c.308A> G (p.Gln103Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786204064 GRCh37 Chromosome 17, 15142799: 15142799
39 PMP22 NM_000304.3(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 GRCh38 Chromosome 17, 15239605: 15239605
40 PMP22 NM_000304.3(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 GRCh37 Chromosome 17, 15142922: 15142922
41 MPZ NM_000530.7(MPZ): c.487G> A (p.Gly163Arg) single nucleotide variant Pathogenic rs281865128 GRCh38 Chromosome 1, 161306426: 161306426
42 MPZ NM_000530.7(MPZ): c.487G> A (p.Gly163Arg) single nucleotide variant Pathogenic rs281865128 GRCh37 Chromosome 1, 161276216: 161276216
43 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472
44 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh38 Chromosome 17, 15259155: 15259155
45 MPZ NM_000530.7(MPZ): c.419C> G (p.Ser140Cys) single nucleotide variant Likely pathogenic rs863224449 GRCh37 Chromosome 1, 161276527: 161276527
46 MPZ NM_000530.7(MPZ): c.419C> G (p.Ser140Cys) single nucleotide variant Likely pathogenic rs863224449 GRCh38 Chromosome 1, 161306737: 161306737
47 MPZ NM_000530.7(MPZ): c.310G> T (p.Asp104Tyr) single nucleotide variant Uncertain significance rs777378929 GRCh37 Chromosome 1, 161276636: 161276636
48 MPZ NM_000530.7(MPZ): c.310G> T (p.Asp104Tyr) single nucleotide variant Uncertain significance rs777378929 GRCh38 Chromosome 1, 161306846: 161306846
49 NEFL NM_006158.4(NEFL): c.1407G> A (p.Glu469=) single nucleotide variant Benign/Likely benign rs543609297 GRCh38 Chromosome 8, 24953558: 24953558
50 NEFL NM_006158.4(NEFL): c.1407G> A (p.Glu469=) single nucleotide variant Benign/Likely benign rs543609297 GRCh37 Chromosome 8, 24811072: 24811072

Expression for Charcot-Marie-Tooth Disease and Deafness

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease and Deafness.

Pathways for Charcot-Marie-Tooth Disease and Deafness

Pathways related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease and Deafness

Cellular components related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.92 ADCY10 KIF1B MTMR2 NTF3

Biological processes related to Charcot-Marie-Tooth Disease and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fission GO:0000266 9.32 COX10 GDAP1
2 mitochondrial fusion GO:0008053 9.26 GDAP1 MFN2
3 myelination in peripheral nervous system GO:0022011 9.16 ARHGEF10 SH3TC2
4 myelination GO:0042552 9.13 EGR2 MPZ PMP22
5 peripheral nervous system development GO:0007422 8.8 EGR2 NTF3 PMP22

Sources for Charcot-Marie-Tooth Disease and Deafness

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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