CMT1E
MCID: CHR629
MIFTS: 45

Charcot-Marie-Tooth Disease and Deafness (CMT1E)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 58 12 54 30 6
Charcot-Marie-Tooth Disease Type 1e 12 54 60 15
Cmt1e 58 12 60 76
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 58 54 74
Charcot-Marie-Tooth Disease, Type I 30 6 41
Charcot-Marie-Tooth Disease Type 1 12 54 15
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 58 54
Charcot-Marie-Tooth Disease Demyelinating Type 1e 12 76
Hereditary Motor and Sensory Neuropathy Type 1 12 54
Charcot-Marie-Tooth Disease, Type 1e 58 13
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness 12
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 54
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 76
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e; Cmt1e 58
Hereditary Motor and Sensory Neuropathy Type I 74
Charcot-Marie-Tooth Disease-Deafness Syndrome 60
Hereditary Motor and Sensory Neuropathy 1 54
Charcot-Marie-Tooth Neuropathy Type 1e 76
Charcot-Marie-Tooth Neuropathy Type 1 54
Charcot-Marie-Tooth Disease-Deafness 12
Charcot-Marie-Tooth Disease, Type Ie 41
Charcot Marie Tooth Disease Type 1e 54
Charcot-Marie-Tooth Disease 1e 76
Charcot-Marie-Tooth Type 1 54
Cmt 1e 54
Hmsn1 54
Cmt1 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 1e
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
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:

33
charcot-marie-tooth disease and deafness:
Onset and clinical course childhood onset juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050538 DOID:0110153
OMIM 58 118300
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C537986 C538078
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1861669 C2931686 C3495591
Orphanet 60 ORPHA90658

Summaries for Charcot-Marie-Tooth Disease and Deafness

NIH Rare Diseases : 54 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 disease, x-linked dominant, 1 and roussy-levy hereditary areflexic dystasia. 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 brain and spinal cord, and related phenotypes are sensorineural hearing impairment and pes cavus

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).

UniProtKB/Swiss-Prot : 76 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.

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 89)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked dominant, 1 33.6 PMP22 MPZ GJB1
2 roussy-levy hereditary areflexic dystasia 32.8 PMP22 MPZ
3 charcot-marie-tooth disease, demyelinating, type 1f 32.7 PMP22 MPZ GJB1
4 charcot-marie-tooth disease, demyelinating, type 1c 32.4 PMP22 MPZ LITAF KIF1B GJB1 EGR2
5 charcot-marie-tooth disease, demyelinating, type 1d 32.1 SULT2B1 PMP22 MTMR2 MPZ KIF1B GJB1
6 charcot-marie-tooth disease, axonal, type 2j 31.9 MPZ KIF1B
7 charcot-marie-tooth disease, axonal, type 2i 31.9 MPZ KIF1B
8 charcot-marie-tooth disease, axonal, type 2q 31.9 MPZ EGR2
9 charcot-marie-tooth disease, axonal, type 2a1 31.8 MFN2 KIF1B
10 charcot-marie-tooth disease, axonal, type 2f 31.7 MPZ KIF1B GJB1
11 charcot-marie-tooth disease, type 4b3 31.7 MTMR2 GDAP1
12 charcot-marie-tooth disease, demyelinating, type 4f 31.7 MTMR2 GDAP1
13 charcot-marie-tooth disease, type 4b2 31.6 MTMR2 GDAP1
14 charcot-marie-tooth disease, type 4b1 31.6 MTMR2 GDAP1
15 charcot-marie-tooth disease, axonal, type 2k 31.6 MFN2 KIF1B GDAP1
16 charcot-marie-tooth disease, axonal, type 2d 31.6 PMP22 MPZ KIF1B GJB1
17 charcot-marie-tooth disease, type 4a 31.5 MTMR2 GDAP1
18 charcot-marie-tooth disease, axonal, type 2l 31.5 MPZ KIF1B
19 charcot-marie-tooth disease, demyelinating, type 1b 31.3 SULT2B1 PMP22 MTMR2 MPZ KIF1B GJB1
20 hereditary motor and sensory neuropathy, type iic 31.2 MPZ MFN2 KIF1B GJB1 GDAP1
21 charcot-marie-tooth disease, axonal, type 2b 31.2 SULT2B1 PMP22 MPZ KIF1B GJB1 EGR2
22 charcot-marie-tooth disease, demyelinating, type 1a 31.1 PMP22 NTF3 MTMR2 MPZ MFN2 KIF1B
23 cauda equina syndrome 31.0 PMP22 EGR2
24 polyneuropathy 30.8 PMP22 MPZ GDAP1
25 charcot-marie-tooth disease, type 4d 30.8 SH3TC2 NTF3 MFN2 GJB1 GDAP1
26 charcot-marie-tooth disease, axonal, type 2e 30.5 SULT2B1 PMP22 MTMR2 MPZ MFN2 KIF1B
27 neuropathy 30.0 PMP22 MPZ MFN2 GJB1 GDAP1 GAN
28 tooth disease 29.5 GDAP1 EGR2 SH3TC2 PMP22 MTMR2 MPZ
29 neuropathy, hereditary, with liability to pressure palsies 29.1 PMP22 MTMR2 MPZ MFN2 LITAF KIF1B
30 sensory peripheral neuropathy 29.0 PMP22 NTF3 MTMR2 MPZ MFN2 LITAF
31 charcot-marie-tooth disease 28.0 SH3TC2 PMP22 MTMR2 MPZ MFN2 LITAF
32 pmp2-related charcot-marie-tooth disease type 1 12.5
33 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.9
34 cowchock syndrome 11.6
35 charcot-marie-tooth disease, demyelinating, type 1g 11.5
36 charcot-marie-tooth disease, dominant intermediate a 11.1
37 charcot-marie-tooth disease, type 4c 10.9
38 charcot-marie-tooth disease, axonal, type 2b1 10.9
39 charcot-marie-tooth disease, axonal, type 2b2 10.9
40 charcot-marie-tooth disease, dominant intermediate b 10.9
41 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
42 charcot-marie-tooth disease, type 4h 10.9
43 charcot-marie-tooth disease, type 4j 10.9
44 charcot-marie-tooth disease, axonal, type 2n 10.9
45 charcot-marie-tooth disease, axonal, type 2o 10.9
46 charcot-marie-tooth disease, axonal, type 2p 10.9
47 charcot-marie-tooth disease, axonal, type 2r 10.9
48 charcot-marie-tooth disease, axonal, type 2u 10.9
49 charcot-marie-tooth disease, axonal, type 2v 10.9
50 charcot-marie-tooth disease, axonal, type 2w 10.9

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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 pes cavus 33 HP:0001761
3 decreased motor nerve conduction velocity 33 HP:0003431
4 areflexia 33 HP:0001284
5 split hand 33 HP:0001171
6 hyporeflexia 33 HP:0001265
7 foot dorsiflexor weakness 33 HP:0009027
8 limb muscle weakness 33 HP:0003690
9 hammertoe 33 HP:0001765
10 distal muscle weakness 33 HP:0002460
11 steppage gait 33 HP:0003376
12 distal amyotrophy 33 HP:0003693
13 distal sensory impairment 33 HP:0002936
14 talipes calcaneovalgus 33 HP:0001884

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 COX10 EGR2 GAN GDAP1 GJB1 KIF1B
2 homeostasis/metabolism MP:0005376 10.07 ADCY10 COX10 EGR2 GDAP1 GJB1 KIF1B
3 cellular MP:0005384 10.02 ADCY10 COX10 EGR2 GAN GDAP1 GJB1
4 mortality/aging MP:0010768 9.9 COX10 EGR2 GAN GJB1 KIF1B MFN2
5 muscle MP:0005369 9.5 COX10 GAN KIF1B MFN2 NTF3 PMP22
6 nervous system MP:0003631 9.44 COX10 EGR2 GAN GDAP1 GJB1 KIF1B

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 30
2 Charcot-Marie-Tooth Disease, Type I 30

Anatomical Context for Charcot-Marie-Tooth Disease and Deafness

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

42
Brain, Spinal Cord

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
2
Hereditary hypertrophic neuropathy combining features of tic douloureux, Charcot-Marie-Tooth disease, and deafness. ( 196788 )
1977

Variations for Charcot-Marie-Tooth Disease and Deafness

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

76
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Ala67Pro VAR_009661 rs104894623
2 PMP22 p.Thr23Arg VAR_029961 rs906563423
3 PMP22 p.Trp28Arg VAR_029963 rs104894626

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

6 (show top 50) (show all 679)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 NM_000304.3(PMP22): c.308A> G (p.Gln103Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786204064 GRCh38 Chromosome 17, 15239482: 15239482
2 PMP22 NM_000304.3(PMP22): c.308A> G (p.Gln103Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786204064 GRCh37 Chromosome 17, 15142799: 15142799
3 PMP22 NM_000304.3(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 GRCh38 Chromosome 17, 15239605: 15239605
4 PMP22 NM_000304.3(PMP22): c.185T> G (p.Leu62Arg) single nucleotide variant Uncertain significance rs756046682 GRCh37 Chromosome 17, 15142922: 15142922
5 MPZ NM_000530.7(MPZ): c.487G> A (p.Gly163Arg) single nucleotide variant Pathogenic rs281865128 GRCh38 Chromosome 1, 161306426: 161306426
6 MPZ NM_000530.7(MPZ): c.487G> A (p.Gly163Arg) single nucleotide variant Pathogenic rs281865128 GRCh37 Chromosome 1, 161276216: 161276216
7 MPZ NM_000530.7(MPZ): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs797044845 GRCh37 Chromosome 1, 161277101: 161277101
8 MPZ NM_000530.7(MPZ): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs797044845 GRCh38 Chromosome 1, 161307311: 161307311
9 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472
10 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh38 Chromosome 17, 15259155: 15259155
11 PMP22 NM_000304.3(PMP22): c.152A> G (p.His51Arg) single nucleotide variant Benign rs368908933 GRCh38 Chromosome 17, 15259120: 15259120
12 PMP22 NM_000304.3(PMP22): c.152A> G (p.His51Arg) single nucleotide variant Benign rs368908933 GRCh37 Chromosome 17, 15162437: 15162437
13 MPZ NM_000530.7(MPZ): c.116A> C (p.His39Pro) single nucleotide variant Pathogenic rs371856018 GRCh38 Chromosome 1, 161307376: 161307376
14 MPZ NM_000530.7(MPZ): c.116A> C (p.His39Pro) single nucleotide variant Pathogenic rs371856018 GRCh37 Chromosome 1, 161277166: 161277166
15 MPZ NM_000530.7(MPZ): c.90C> G (p.Ile30Met) single nucleotide variant Pathogenic rs770546306 GRCh37 Chromosome 1, 161277192: 161277192
16 MPZ NM_000530.7(MPZ): c.90C> G (p.Ile30Met) single nucleotide variant Pathogenic rs770546306 GRCh38 Chromosome 1, 161307402: 161307402
17 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh38 Chromosome 17, 15230966: 15230966
18 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh37 Chromosome 17, 15134283: 15134283
19 PMP22 NM_000304.2(PMP22): c.(?_-1)_(*1_?)del deletion Pathogenic
20 PMP22 NM_000304.2(PMP22): c.(?_-1)_(*1_?)dup duplication Pathogenic
21 MPZ NM_000530.7(MPZ): c.106A> T (p.Arg36Trp) single nucleotide variant Pathogenic rs864622732 GRCh37 Chromosome 1, 161277176: 161277176
22 MPZ NM_000530.7(MPZ): c.106A> T (p.Arg36Trp) single nucleotide variant Pathogenic rs864622732 GRCh38 Chromosome 1, 161307386: 161307386
23 LITAF NM_004862.3(LITAF): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs34448402 GRCh37 Chromosome 16, 11647433: 11647433
24 LITAF NM_004862.3(LITAF): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs34448402 GRCh38 Chromosome 16, 11553577: 11553577
25 LITAF NM_004862.3(LITAF): c.234G> A (p.Thr78=) single nucleotide variant Benign/Likely benign rs9282774 GRCh37 Chromosome 16, 11647532: 11647532
26 LITAF NM_004862.3(LITAF): c.234G> A (p.Thr78=) single nucleotide variant Benign/Likely benign rs9282774 GRCh38 Chromosome 16, 11553676: 11553676
27 PMP22 NM_000304.3(PMP22): c.280_281delGGinsT (p.Gly94Serfs) indel Pathogenic rs864622678 GRCh37 Chromosome 17, 15142826: 15142827
28 PMP22 NM_000304.3(PMP22): c.280_281delGGinsT (p.Gly94Serfs) indel Pathogenic rs864622678 GRCh38 Chromosome 17, 15239509: 15239510
29 PMP22 NM_000304.3(PMP22): c.138delC (p.Ser47Glnfs) deletion Pathogenic/Likely pathogenic rs864622180 GRCh37 Chromosome 17, 15162451: 15162451
30 PMP22 NM_000304.3(PMP22): c.138delC (p.Ser47Glnfs) deletion Pathogenic/Likely pathogenic rs864622180 GRCh38 Chromosome 17, 15259134: 15259134
31 PMP22 NM_000304.3(PMP22): c.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh37 Chromosome 17, 15163998: 15163998
32 PMP22 NM_000304.3(PMP22): c.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh38 Chromosome 17, 15260681: 15260681
33 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh37 Chromosome 17, 15134364: 15134364
34 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh38 Chromosome 17, 15231047: 15231047
35 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh37 Chromosome 17, 15142892: 15142892
36 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh38 Chromosome 17, 15239575: 15239575
37 PMP22 NM_000304.3(PMP22): c.36C> A (p.His12Gln) single nucleotide variant Pathogenic rs104894622 GRCh37 Chromosome 17, 15164009: 15164009
38 PMP22 NM_000304.3(PMP22): c.36C> A (p.His12Gln) single nucleotide variant Pathogenic rs104894622 GRCh38 Chromosome 17, 15260692: 15260692
39 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
40 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh38 Chromosome 17, 15239591: 15239591
41 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh37 Chromosome 17, 15162507: 15162507
42 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh38 Chromosome 17, 15259190: 15259190
43 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh38 Chromosome 17, 15231045: 15231056
44 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh37 Chromosome 17, 15134362: 15134373
45 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh37 Chromosome 17, 15134248: 15134248
46 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh38 Chromosome 17, 15230931: 15230931
47 MPZ NM_000530.7(MPZ): c.270C> A (p.Asp90Glu) single nucleotide variant Pathogenic rs121913584 GRCh37 Chromosome 1, 161276676: 161276676
48 MPZ NM_000530.7(MPZ): c.270C> A (p.Asp90Glu) single nucleotide variant Pathogenic rs121913584 GRCh38 Chromosome 1, 161306886: 161306886
49 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh37 Chromosome 1, 161276537: 161276537
50 MPZ NM_000530.7(MPZ): c.409G> A (p.Gly137Ser) single nucleotide variant Likely pathogenic rs121913588 GRCh38 Chromosome 1, 161306747: 161306747

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 protein targeting to mitochondrion GO:0006626 9.4 GDAP1 MFN2
2 mitochondrial fission GO:0000266 9.37 COX10 GDAP1
3 myelination in peripheral nervous system GO:0022011 9.32 ARHGEF10 SH3TC2
4 mitochondrial fusion GO:0008053 9.26 GDAP1 MFN2
5 myelin assembly GO:0032288 9.16 MTMR2 PMP22
6 myelination GO:0042552 9.13 EGR2 MPZ PMP22
7 peripheral nervous system development GO:0007422 8.8 EGR2 NTF3 PMP22

Sources for Charcot-Marie-Tooth Disease and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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