CMT1
MCID: CHR022
MIFTS: 52

Charcot-Marie-Tooth Disease Type 1 (CMT1) malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Fetal diseases, Ear diseases categories

Summaries for Charcot-Marie-Tooth Disease Type 1

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48OMIM, 34MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 1, also known as autosomal dominant demyelinating charcot-marie-tooth disease, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 1 is MPZ (myelin protein zero), and among its related pathways are Neural Crest Differentiation and Alzheimers Disease Pathway. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and reproductive system.

Description from OMIM:48 118300, 118200, 601098, 607734, 607678 118220 more

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 1

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Sources:
9Disease Ontology, 66Wikipedia, 23GTR, 11DISEASES, 50Orphanet, 63UMLS, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
charcot-marie-tooth disease type 1:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

charcot-marie-tooth disease type 1 9 66 23 11 50
autosomal dominant demyelinating charcot-marie-tooth disease 50
hereditary motor and sensory neuropathy type i 63
hereditary motor and sensory neuropathy type 1 50
congenital hypomyelination 66
cmt1 50


External Ids:

Disease Ontology9 DOID:0050538
SNOMED-CT via Orphanet60 398040009
ICD10 via Orphanet27 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 1

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease family:

charcot-marie-tooth disease type 1 Charcot-Marie-Tooth Disease Type 2
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy Type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4
Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Neuropathy Type 4c
Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
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 Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Neuropathy Type 4b2 Charcot-Marie-Tooth Neuropathy Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2g
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2n
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2d
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Neuropathy Type 1c
Charcot-Marie-Tooth Neuropathy Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Neuropathy Type 2c Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Neuropathy Type 4d Charcot-Marie-Tooth Neuropathy Type 4e
Charcot-Marie-Tooth Neuropathy Type 4f Charcot-Marie-Tooth Neuropathy Type 1a
Charcot-Marie-Tooth Neuropathy Type 1d Charcot-Marie-Tooth Disease, Type 2a1
Charcot-Marie-Tooth Disease, Type 2a2 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 4b3
Surf1-Related Charcot-Marie-Tooth Disease Type 4

Diseases related to Charcot-Marie-Tooth Disease Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease31.8PMP22, MPZ
2tooth disease31.7PMP22, MPZ, GJB1, EGR2
3charcot-marie-tooth disease type 4e30.9EGR2, PMP22, MPZ
4hereditary neuropathy with liability to pressure palsies30.8PMP22
5charcot-marie-tooth disease type 1a30.7CMT1A, PMP22
6hereditary neuropathies30.7PMP22, MPZ, GJB1
7neuropathy30.7LITAF, EGR2, GJB1, MPZ, NEFL, NTF3
8charcot-marie-tooth neuropathy type 130.6NEFL, EGR2, PMP22, MPZ, LITAF
9sensory neuropathy type 110.8
10congenital hypomyelination neuropathy10.7
11restless legs syndrome10.4
12sleep disorder10.4
13charcot-marie-tooth disease type 1c10.4
14charcot-marie-tooth disease type 1d10.4
15hereditary neuropathy with liability to pressure palsy10.4
16charcot-marie-tooth neuropathy, x-linked dominant, 110.4
17x-linked charcot-marie-tooth disease10.4
18charcot-marie-tooth disease, dominant intermediate b10.3
19neuropathy, congenital hypomyelinating, 110.2
20charcot-marie-tooth disease type 1b10.2
21hypertrophic neuropathy of dejerine-sottas10.1NAB1
22pelizaeus-merzbacher disease10.1MPZ
23charcot-marie-tooth neuropathy type 410.1EGR2
24wallerian degeneration10.1MPZ
25polyradiculoneuropathy10.1PMP22
26motor peripheral neuropathy10.1PMP22, MPZ
27neuropathy, inflammatory demyelinating10.1PMP22, CMT1A
28charcot-marie-tooth neuropathy type 1a10.1MPZ, PMP22
29neuropathy, recurrent, with pressure palsies10.1CMT1A, PMP22
30charcot-marie-tooth disease type 1e10.1CMT1A, PMP22
31charcot-marie-tooth neuropathy type 210.1NEFL, MPZ
32chronic inflammatory demyelinating polyradiculoneuropathy10.1MPZ, PMP22
33brachial plexus neuropathy10.1PMP22, MPZ
34guillain-barre syndrome10.1PMP22, MPZ
35neuritis10.1MPZ, PMP22
36sensorineural hearing loss10.0PMP22, GJB1
37boylan dew greco syndrome10.0
38charcot-marie-tooth neuropathy type 4e10.0
39inherited peripheral neuropathy10.0PMP22, EGR2, GJB1, MPZ
40charcot-marie-tooth disease type 310.0MPZ, PMP22, EGR2, GJB1
41polyneuropathy10.0EGR2, GJB1, MPZ, PMP22
42diabetic neuropathy10.0NTF3, MPZ, PMP22
43neurilemmoma10.0PMP22, MPZ, NTF3
44neuronitis10.0
45charcot-marie-tooth disease type 2c10.0
46adenoid cystic carcinoma10.0ERBB2, ERBB3
47endometrial carcinoma10.0GJB1, ERBB2, ERBB3
48myopathy9.9MYH6, PMP22, MPZ, NEFL, GJB1, EGR2
49lung adenocarcinoma9.9GJB1, ERBB2, ERBB3
50sensory peripheral neuropathy9.9LITAF, GJB1, EGR2, NTF3, PMP22, MPZ

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 1:



Diseases related to charcot-marie-tooth disease type 1

Symptoms for Charcot-Marie-Tooth Disease Type 1

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48OMIM
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Clinical features from OMIM:

118300,118200,601098,607734,607678,118220

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 1

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 1

Search NIH Clinical Center for Charcot-Marie-Tooth Disease Type 1

Search CenterWatch for Charcot-Marie-Tooth Disease Type 1

Genetic Tests for Charcot-Marie-Tooth Disease Type 1

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23GTR
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Genetic tests related to Charcot-Marie-Tooth Disease Type 1:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type I23

Anatomical Context for Charcot-Marie-Tooth Disease Type 1

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Animal Models for Charcot-Marie-Tooth Disease Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4ERBB3, ERBB2, NTF3, MYH6, PMP22
2MP:00053898.0PMP22, MPZ, NAB1, NTF3, ERBB2, EGR2
3MP:00053887.9NAB1, NTF3, ERBB2, ERBB3, EGR2
4MP:00028737.8NAB1, NEFL, NTF3, ERBB2, ERBB3, EGR2
5MP:00053847.6PMP22, MPZ, NAB1, LITAF, ERBB2, ERBB3
6MP:00053767.5DARC, MPZ, MYH6, LITAF, NTF3, GJB1
7MP:00053787.2PMP22, NAB1, NTF3, GJB1, ERBB2, ERBB3
8MP:00053867.0PMP22, MPZ, NAB1, MYH6, NTF3, GJB1
9MP:00107687.0PMP22, MPZ, NAB1, MYH6, NTF3, GJB1
10MP:00036316.8EGR2, PMP22, MPZ, NAB1, LITAF, NEFL

Publications for Charcot-Marie-Tooth Disease Type 1

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53PubMed
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Articles related to Charcot-Marie-Tooth Disease Type 1:

(show all 24)
idTitleAuthorsYear
1
Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations. (23757421)
2013
2
Sleep disorders in Charcot-Marie-Tooth disease type 1. (23704315)
2013
3
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. (20739940)
2010
4
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. (18758688)
2008
5
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. (17100997)
2006
6
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (16912585)
2006
7
Charcot-Marie-Tooth Disease type 1 and pediatric true vocal fold paralysis. (16084600)
2006
8
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. (15050444)
2004
9
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. (12736090)
2003
10
Disability and quality of life in Charcot-Marie-Tooth disease type 1. (11254787)
2001
11
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. (10632107)
2000
12
Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. (10648431)
2000
13
Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration. (10210889)
1998
14
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). (9452099)
1998
15
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. (9856562)
1998
16
Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1. (9386787)
1997
17
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. (8800924)
1996
18
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. (7891814)
1995
19
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. (8012365)
1994
20
Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. (7991130)
1994
21
Pregnancy and delivery in Charcot-Marie-Tooth disease type 1. (8413959)
1993
22
Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1). (1596093)
1992
23
Charcot-Marie-Tooth disease type 1. (1552540)
1992
24
The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1. (2892777)
1988

Variations for Charcot-Marie-Tooth Disease Type 1

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Expression for genes affiliated with Charcot-Marie-Tooth Disease Type 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 1.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease Type 1

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Sources:
51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome, 61Thomson Reuters, 31KEGG
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Pathways related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GJB1, MPZ, PMP22
29.5ERBB3, ERBB2
3
Show member pathways
9.5ERBB3, ERBB2
49.2ERBB3, ERBB2, PMP22
5
Show member pathways
9.1ERBB3, ERBB2, MYH6
6
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.1NTF3, ERBB2, ERBB3

Compounds for genes affiliated with Charcot-Marie-Tooth Disease Type 1

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Sources:
46Novoseek, 62Tocris Bioscience, 52PharmGKB, 12DrugBank, 30IUPHAR, 3BitterDB, 25HMDB
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Compounds related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4610.2MPZ, PMP22
2ganglioside469.9PMP22, MPZ, NTF3
3jnj 28871063 hydrochloride629.9ERBB2, ERBB3
4ag 490629.9ERBB2, ERBB3
5ag 1478 hydrochloride629.9ERBB2, ERBB3
6iressa629.9ERBB2, ERBB3
7pertuzumab46 52 1211.8ERBB3, ERBB2
8o-tyrosine469.8ERBB3, ERBB2
9hrgbeta1469.8ERBB3, ERBB2
10lapatinib46 52 1211.7ERBB2, ERBB3
11polyacrylamide469.5MYH6, NEFL, NTF3
12gaba469.5GJB1, NTF3, PMP22
13cetuximab46 52 1211.4ERBB2, ERBB3
14forskolin46 52 1211.4ERBB3, GJB1, NTF3, PMP22
15carbachol46 30 1211.3NTF3, ERBB2, ERBB3
16chloramphenicol46 3 52 1212.2MYH6, NTF3, ERBB2
17aspartate469.2ERBB2, NTF3, MPZ, PMP22
18agar469.2NTF3, ERBB2, ERBB3
19erlotinib46 52 1211.2ERBB3, ERBB2
20acetylcholine46 52 30 25 1213.1ERBB3, ERBB2, NTF3
21retinoic acid46 2510.1PMP22, MYH6, NEFL, NTF3, GJB1
22glutamate469.0MPZ, NEFL, NTF3, GJB1, ERBB2
23steroid468.9PMP22, MPZ, NTF3, ERBB2, ERBB3
24arginine468.8PMP22, MPZ, MYH6, NTF3, GJB1, ERBB2
25estrogen468.7MYH6, NTF3, GJB1, ERBB2, ERBB3
26progesterone46 30 62 25 1212.7ERBB3, ERBB2, GJB1, NTF3, MPZ, PMP22
27serine468.6PMP22, MPZ, MYH6, GJB1, ERBB2, ERBB3
28lipid468.6DARC, MPZ, EMP2, MYH6, LITAF, ERBB3
29tyrosine468.4DARC, MPZ, NTF3, GJB1, ERBB2, ERBB3

GO Terms for genes affiliated with Charcot-Marie-Tooth Disease Type 1

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17Gene Ontology
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Cellular components related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.0ERBB3, ERBB2, EMP2

Biological processes related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1motor neuron axon guidanceGO:0080459.6ERBB2, EGR2
2nervous system developmentGO:0073999.3ERBB2, GJB1, NTF3
3phosphatidylinositol 3-kinase signalingGO:0140659.2ERBB3, ERBB2
4transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071699.1ERBB3, ERBB2, NTF3
5Schwann cell differentiationGO:0140379.0NAB1, ERBB3, EGR2
6peripheral nervous system developmentGO:0074228.7EGR2, ERBB3, ERBB2, NTF3, PMP22
7myelinationGO:0425528.6NAB1, NTF3, ERBB2, EGR2

Molecular functions related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.5ERBB3, ERBB2
2transmembrane signaling receptor activityGO:0048888.9ERBB3, ERBB2, DARC

Products for genes affiliated with Charcot-Marie-Tooth Disease Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet