MCID: CHR113
MIFTS: 38

Charcot-Marie-Tooth Neuropathy Type 1 malady

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

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

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Aliases & Descriptions for Charcot-Marie-Tooth Neuropathy Type 1:

Name: Charcot-Marie-Tooth Neuropathy Type 1 21 22
Charcot-Marie-Tooth Neuropathy Type 1e 22 24
Dejerine-Sottas Disease 22 65
Hmsn1 21 22
Cmt1 21 22
Hereditary Motor and Sensory Neuropathy Type I 65
 
Hereditary Motor and Sensory Neuropathy 1 22
Charcot-Marie-Tooth Disease and Deafness 22
Hereditary Motorsensory Neuropathy 1 21
Cmt 1e 22
Cmt1e 22

Classifications:



External Ids:

UMLS65 C0751036, C0011195

Summaries for Charcot-Marie-Tooth Neuropathy Type 1

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 1, also known as charcot-marie-tooth neuropathy type 1e, is related to dejerine-sottas disease and neuropathy, congenital hypomyelinating, and has symptoms including gait, drop footand ataxia, sensory. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is MPZ (Myelin Protein Zero), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include lung, brain and prostate, and related mouse phenotypes are cellular and behavior/neurological.

GeneReviews summary for NBK1205

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

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Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy charcot-marie-tooth neuropathy type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4 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 Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2n
Charcot-Marie-Tooth Neuropathy Type 2o Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 4f Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Charcot-Marie-Tooth Neuropathy X Type 6 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

Diseases related to Charcot-Marie-Tooth Neuropathy Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1dejerine-sottas disease32.0EGR2, GJB1, LITAF, MPZ, PMP22
2neuropathy, congenital hypomyelinating31.6EGR2, MPZ, PMP22
3charcot-marie-tooth disease11.6
4charcot-marie-tooth neuropathy type 411.4
5charcot-marie-tooth disease, type 1e11.4
6charcot-marie-tooth disease, type 4f11.3
7charcot-marie-tooth neuropathy type 4f11.3
8neuropathy10.8
9charcot-marie-tooth neuropathy10.8
10dystonia10.3
11dystonia 110.3
12congenital symblepharon10.2MPZ, PMP22
13prolymphocytic leukemia10.1MPZ, PMP22
14anal colloid adenocarcinoma10.1MPZ, PMP22
15neuropathy, recurrent, with pressure palsies10.1MPZ, PMP22
16demyelinating polyneuropathy10.1MPZ, PMP22
17charcot-marie-tooth neuropathy type 4j10.1EGR2, MPZ
18myofascial pain syndrome10.0MPZ, PMP22
19hereditary nodular heterotopia10.0LITAF, PMP22
20brain stem glioma10.0LITAF, PMP22
21rectal disease9.9MPZ, PMP22
22bird fancier's lung9.9MPZ, PMP22
23reflex sympathetic dystrophy9.8MPZ, PMP22
24central nervous system origin vertigo9.8GJB1, MPZ, PMP22
25htlv-1 associated myelopathy9.8GJB1, MPZ, PMP22
26small intestinal vasoactive intestinal peptide producing tumor9.8GJB1, MPZ, PMP22
27autonomic peripheral neuropathy9.7GJB1, MPZ, PMP22
28upper lip cancer9.7GJB1, MPZ, PMP22
29nephrotic syndrome, type 109.7LITAF, NEFL
30diamond-blackfan anemia9.6MPZ, PMP22
31charcot-marie-tooth disease, type 1b9.5GJB1, MPZ, NEFL
32charcot-marie-tooth disease, type 1f9.5MPZ, NEFL, PMP22
33cheek mucosa cancer9.3EGR2, GJB1, MPZ, PMP22
34adrenocorticotropic hormone deficiency9.0GJB1, MPZ, NEFL, PMP22
35neuropathy, inflammatory demyelinating8.8EGR2, GJB1, LITAF, MPZ, PMP22
36gastric antral vascular ectasia8.8EGR2, GJB1, LITAF, MPZ, PMP22
37charcot-marie-tooth neuropathy dominant intermediate e8.6EGR2, GJB1, MPZ, NEFL, PMP22
38charcot-marie-tooth neuropathy type 18.5EGR2, GJB1, LITAF, MPZ, NEFL
39charcot-marie-tooth neuropathy type 2a8.0EGR2, GJB1, LITAF, MPZ, NEFL, PMP22
40benign essential hypertension8.0EGR2, GJB1, LITAF, MPZ, NEFL, PMP22
41childhood type dermatomyositis8.0EGR2, GJB1, LITAF, MPZ, NEFL, PMP22

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



Diseases related to charcot-marie-tooth neuropathy type 1

Symptoms for Charcot-Marie-Tooth Neuropathy Type 1

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UMLS symptoms related to Charcot-Marie-Tooth Neuropathy Type 1:


gait, drop foot, ataxia, sensory

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

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Drugs for Charcot-Marie-Tooth Neuropathy Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 342450-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
e 300
e-300
e300
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
2VitaminsPhase 2, Phase 33857
3Trace ElementsPhase 2, Phase 33900
4Protective AgentsPhase 2, Phase 35651
5MicronutrientsPhase 2, Phase 33901
6AntioxidantsPhase 2, Phase 32442
7Pharmaceutical SolutionsPhase 37004
8Contraceptives, OralPhase 1, Phase 23734
9serineNutraceuticalPhase 1, Phase 2770
10
Salmon Calcitoninapproved, investigational5047931-85-116129616
Synonyms:
135506-95-5
47931-85-1
Astronin
Biocalcin
Bionocalcin
C028815
C06865
C145H239N43O48S2
CALCITONIN, SALMON
Cadens
Calciben
Calcihexal
Calcimar
Calcimar (TN)
Calcimonta
Calcinil
Calcioton
Calcitonin (Salmon Synthetic)
Calcitonin (salmon)
Calcitonin 1 precursor
Calcitonin Salmon
Calcitonin [USAN:INN:BAN:JAN]
Calcitonin salmon
Calcitonin salmon (USAN/INN)
Calcitonin salmon (synthesis)
Calcitonin salmon (synthesis) (JAN)
Calcitonin vom lachs
Calcitonin, salmar
Calcitonin, salmon
Calcitonin, salmon, for bioassay
Calcitonin,salmon
Calcitonin-salmon
Calcitonina
Calcitonine de saumon
Calcitoran
Calco
Calogen
Calsynar
Calsynar Lyo L
Caltine
Casalm
Catonin
Cibacalcin
Cibacalcine
Citonina
 
D00249
EINECS 256-342-8
Eptacalcin
Forcaltonin
Fortical
Fortical (TN)
Ipocalcin
Isi-calcin
Kalsimin
Karil
LS-48624
Miacalcic
Miacalcin
Miacalcin (TN)
Miracalcic
Oseototal
Osseocalcina
Osteobion
Osteovis
Ostosalm
Ostostabil
Porostenina
Prontocalcin
Quosten
Riostin
Rulicalcin
Salcat
Salcatonin
Salcatyn
Salmocalcin
Salmofar
Salmon calcitonin
Salmon calcitonin I
Salmon calcitonin-(I-32)
Salmotonin
Sical
Stalcin
Staporos
Steocin
TZ-CT
Thyrocalcitonin (salmon)
Tonocalcin
UNII-7SFC6U2VI5
Ucecal
recombinant salmon calcitonin
salmon calcitonin (1-32)
synthetic salmon calcitonin
11
substance Pinvestigational21733507-63-036511, 44359816
Synonyms:
 
Arg-Pro-Lys-Pro-Gln-Gln-Phe-Phe-Gly-Leu-Met-NH2
12Calcitonin Gene-Related Peptide50
13calcitonin50
14neurokinin A220

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
2Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)RecruitingNCT02579759Phase 3
3Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)Not yet recruitingNCT01289704Phase 2, Phase 3
4Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1ACompletedNCT01401257Phase 2
5Ascorbic Acid Treatment in CMT1A Trial (AATIC)CompletedNCT00271635Phase 2
6Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral NervesCompletedNCT00665132Phase 1, Phase 2
7Acupuncture for Carpal Tunnel SyndromeCompletedNCT00000394Phase 2
8L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Active, not recruitingNCT01733407Phase 1, Phase 2
9Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
10Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel SyndromeCompletedNCT02217293
11Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
12Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
13The Effect of Platelet Rich Plasma for Carpal Tunnel SyndromeRecruitingNCT02539186
14Platelet Rich Plasma and Hydrodissection for Carpal Tunnel SyndromeRecruitingNCT02696161
15Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical TractionActive, not recruitingNCT01949493
16Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT01750710
17Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191

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

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 1

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Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 1:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 122 PMP22
2 Charcot-Marie-Tooth Neuropathy Type 1e22 PMP22

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 1

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MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 1:

33
Lung, Brain, Prostate, Small intestine, Endothelial

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.9EGR2, GJB1, LITAF, MPZ, PMP22
2MP:00053867.6EGR2, GJB1, MPZ, NEFL, PMP22
3MP:00036316.8EGR2, GJB1, LITAF, MPZ, NEFL, PMP22

Publications for Charcot-Marie-Tooth Neuropathy Type 1

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Articles related to Charcot-Marie-Tooth Neuropathy Type 1:

idTitleAuthorsYear
1
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. (21412843)
2011
2
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1. (16922730)
2006
3
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie- Tooth neuropathy type 1: identification of five new mutations. (8990008)
1997
4
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. (7688964)
1993
5
Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A? (8011481)
1993
6
Charcot-Marie-Tooth Neuropathy Type 1 (20301384)
1993
7
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. (1407588)
1992
8
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. (2220808)
1990
9
Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. (3163969)
1988

Variations for Charcot-Marie-Tooth Neuropathy Type 1

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Clinvar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MPZNM_000530.7(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204

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

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

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

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Pathways related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1GJB1, MPZ, PMP22

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

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Biological processes related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:00425529.5EGR2, PMP22

Sources for Charcot-Marie-Tooth Neuropathy Type 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet