MCID: CHR307

Charcot-Marie-Tooth Neuropathy Type 2o malady

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

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 2o

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Aliases & Descriptions for Charcot-Marie-Tooth Neuropathy Type 2o:

Name: Charcot-Marie-Tooth Neuropathy Type 2o 23
Charcot-Marie-Tooth Disease, Axonal, Type 2o 66
 
Cmt 2o 23
Cmt2o 23

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 2o

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 2o, also known as charcot-marie-tooth disease, axonal, type 2o, is related to charcot-marie-tooth disease, axonal, type 20 and charcot-marie-tooth disease type 2o. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2o is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1).

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 2o

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Symptoms for Charcot-Marie-Tooth Neuropathy Type 2o

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Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 2o

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 2o

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 2o

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Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 2o:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2o23 DYNC1H1

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 2o

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Animal Models for Charcot-Marie-Tooth Neuropathy Type 2o or affiliated genes

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Publications for Charcot-Marie-Tooth Neuropathy Type 2o

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Variations for Charcot-Marie-Tooth Neuropathy Type 2o

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Clinvar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 2o:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DYNC1H1NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg)single nucleotide variantPathogenicrs387906738GRCh37Chr 14, 102446843: 102446843

Expression for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2o

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Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 2o.

Pathways for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2o

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GO Terms for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2o

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Sources for Charcot-Marie-Tooth Neuropathy Type 2o

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet