MCID: CHR130
MIFTS: 48

Charcot-Marie-Tooth Disease Type 1b malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 1b

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Sources:
47OMIM, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 1b, also known as charcot marie tooth disease type 1b, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 1b is MPZ (myelin protein zero), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder. Related mouse phenotype nervous system.

Description from OMIM:47 118200

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

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Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
charcot-marie-tooth disease type 1b:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Young adult


Aliases & Descriptions:

charcot-marie-tooth disease type 1b 43 49
charcot marie tooth disease type 1b 43 22
charcot-marie-tooth disease, demyelinating, type 1b 43
hereditary motor and sensory neuropathy 1b 43
charcot-marie-tooth disease, type ib 62
charcot-marie-tooth disease, type 1b 47
peroneal muscular atrophy 43
hmsn 1b 43
cmt 1b 43
cmt1b 49


External Ids:

OMIM47 118200
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet59 42986003
UMLS via Orphanet63 C0270912

Related Diseases for Charcot-Marie-Tooth Disease Type 1b

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Sources:
17GeneCards, 18GeneDecks
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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 1b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease31.6PMP22, MPZ
2tooth disease31.6MPZ, PMP22
3neuropathy30.6MPZ, PMP22
4muscular atrophy10.6
5neurofibromatosis10.5
6charcot-marie-tooth disease with pyramidal features, autosomal dominant10.4
7plexiform neurofibroma10.2
8poland syndrome10.2
9hereditary sensory neuropathy10.2
10neurofibroma10.2
11hereditary ataxia10.2
12charcot-marie-tooth disease x-linked 110.2
13charcot-marie-tooth type 1 aplasia cutis congenita10.2
14congenital contractures10.2
15cowchock syndrome10.2
16motor sensory neuropathy type 1 aplasia cutis congenita10.2
17ataxia10.2
18pelizaeus-merzbacher disease10.1MPZ
19hereditary neuropathy with liability to pressure palsies10.0PMP22
20polyradiculoneuropathy10.0PMP22
21charcot-marie-tooth disease type 1a10.0
22charcot-marie-tooth disease type 1c10.0
23charcot-marie-tooth disease type 1d10.0
24charcot-marie-tooth disease type 2b110.0
25charcot-marie-tooth disease type 2b210.0
26charcot-marie-tooth disease, type 2a110.0
27charcot-marie-tooth disease, type 2a210.0
28charcot-marie-tooth neuropathy, x-linked dominant, 110.0
29charcot-marie-tooth neuropathy type 1a10.0MPZ, PMP22
30motor peripheral neuropathy10.0MPZ, PMP22
31charcot-marie-tooth disease type 4e10.0PMP22, MPZ
32inherited peripheral neuropathy10.0PMP22, MPZ
33chronic inflammatory demyelinating polyradiculoneuropathy10.0PMP22, MPZ
34brachial plexus neuropathy10.0PMP22, MPZ
35charcot-marie-tooth disease type 310.0MPZ, PMP22
36charcot-marie-tooth neuropathy type 110.0MPZ, PMP22
37hereditary neuropathies10.0PMP22, MPZ
38guillain-barre syndrome10.0PMP22, MPZ
39diabetic neuropathy10.0MPZ, PMP22
40neuritis10.0MPZ, PMP22
41sensory peripheral neuropathy10.0PMP22, MPZ
42polyneuropathy10.0MPZ, PMP22
43myopathy10.0MPZ, PMP22
44neurilemmoma9.9MPZ, PMP22

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



Diseases related to charcot-marie-tooth disease type 1b

Symptoms for Charcot-Marie-Tooth Disease Type 1b

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47OMIM
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Symptoms by clinical synopsis from OMIM:

118200

Clinical features from OMIM:

118200

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 1b

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 1b

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22GTR
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Genetic tests related to Charcot-Marie-Tooth Disease Type 1b:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ib22

Anatomical Context for Charcot-Marie-Tooth Disease Type 1b

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

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Sources:
37MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 1b:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5CHM, MPZ, PMP22

Publications for Charcot-Marie-Tooth Disease Type 1b

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Sources:
52PubMed
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Articles related to Charcot-Marie-Tooth Disease Type 1b:

(show all 18)
idTitleAuthorsYear
1
Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene. (22633464)
2013
2
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. (23547100)
2013
3
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. (21940171)
2012
4
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. (22689911)
2012
5
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. (21503568)
2011
6
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. (19918771)
2010
7
Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. (19533637)
2009
8
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. (16488608)
2006
9
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B. (16521307)
2005
10
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. (15170620)
2004
11
Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein. (10581375)
1999
12
Novel mutation of the myelin Po gene in a pedigree with Charcot- Marie-Tooth disease type 1B. (9217235)
1997
13
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. (9168174)
1997
14
A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis. (8938258)
1996
15
Mutations in the myelin protein zero gene associated with Charcot- Marie-Tooth disease type 1B. (7550231)
1995
16
Linkage and mutation analysis in an extended family with Charcot- Marie-Tooth disease type 1B. (7530774)
1994
17
A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene]. (7537189)
1994
18
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. (7693130)
1993

Variations for Charcot-Marie-Tooth Disease Type 1b

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 1b:

64 (show all 53)
id Symbol AA change Variation ID SNP ID
1MPZp.Ile30MetVAR_004500
2MPZp.Val32PheVAR_004501
3MPZp.Thr34IleVAR_004502
4MPZp.Ser44PheVAR_004503
5MPZp.Ser54CysVAR_004504
6MPZp.Ser54ProVAR_004505
7MPZp.Val58PheVAR_004506
8MPZp.Ser63PheVAR_004509
9MPZp.Tyr68CysVAR_004511
10MPZp.Ser78LeuVAR_004512
11MPZp.His81ArgVAR_004513
12MPZp.Tyr82CysVAR_004514
13MPZp.Asp90GluVAR_004515
14MPZp.Gly93GluVAR_004516
15MPZp.Lys96GluVAR_004517
16MPZp.Arg98CysVAR_004518
17MPZp.Arg98HisVAR_004519
18MPZp.Arg98ProVAR_004520
19MPZp.Arg98SerVAR_004521
20MPZp.Ile99ThrVAR_004522
21MPZp.Trp101CysVAR_004523
22MPZp.Ile112ThrVAR_004524
23MPZp.Asn122SerVAR_004528
24MPZp.Thr124MetVAR_004529
25MPZp.Asp128GluVAR_004532
26MPZp.Lys130ArgVAR_004534
27MPZp.Pro132LeuVAR_004535
28MPZp.Asp134GluVAR_004536
29MPZp.Asp134AsnVAR_004537
30MPZp.Ile135LeuVAR_004538
31MPZp.Ile135ThrVAR_004539
32MPZp.Gly137SerVAR_004540
33MPZp.Thr143MetVAR_004541
34MPZp.Gly163ArgVAR_004542
35MPZp.Gly167AlaVAR_004543
36MPZp.Ile62PheVAR_015972
37MPZp.Gly103GluVAR_015976
38MPZp.Gly123CysVAR_015977
39MPZp.Ser51PheVAR_029971
40MPZp.Thr65IleVAR_029974
41MPZp.Asp134GlyVAR_029979
42MPZp.Lys138AsnVAR_029980
43MPZp.Thr139AsnVAR_029981
44MPZp.Ser140ThrVAR_029982
45MPZp.Tyr145SerVAR_029983
46MPZp.Val146PheVAR_029984
47MPZp.Leu170ArgVAR_029985
48MPZp.Thr65AlaVAR_031886
49MPZp.Ser78TrpVAR_031887
50MPZp.Asp109AsnVAR_031889
51MPZp.His39ProVAR_054393
52MPZp.Asp224TyrVAR_054397
53MPZp.Arg227SerVAR_054398

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

1 (show all 33)
id Gene Name Type Significance SNP ID Assembly Location
1MPZNM_000530.6(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
2MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
3MPZMPZ, 3-BP DEL, SER34DELdeletionPathogenic
4MPZMPZ, THR216GLU-ARGundetermined variantPathogenic
5MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
6MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
7MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
8MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
9MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
10MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
11MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
12MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
13MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
14MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
15MPZMPZ, IVS4DS, T-G, +2single nucleotide variantPathogenic
16MPZNM_000530.6(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
17MPZMPZ, VAL102VALsingle nucleotide variantPathogenic
18MPZMPZ, ASP195TYRsingle nucleotide variantPathogenic
19MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
20MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
21MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
22MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
23MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
24MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
25MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
26MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
27MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
28MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
29MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
30MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
31MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
32MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
33MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764

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

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 1b

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

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

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Sources:
50PathCards, 38NCBI BioSystems Database
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Pathways related to Charcot-Marie-Tooth Disease Type 1b according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3MPZ, PMP22

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

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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Charcot-Marie-Tooth Disease Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone459.4PMP22, MPZ
2ganglioside459.4PMP22, MPZ
3progesterone45 29 61 24 1113.3PMP22, MPZ
4dihydrotestosterone45 29 24 1112.2MPZ, PMP22
5aspartate459.0MPZ, PMP22
6cysteine458.5CHM, PMP22, MPZ

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

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Sources:
16Gene Ontology
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Biological processes related to Charcot-Marie-Tooth Disease Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:0072689.3MPZ, PMP22

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 1b

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet