MCID: CHR307
MIFTS: 12

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 22
Charcot-Marie-Tooth Disease, Axonal, Type 2o 65
 
Cmt 2o 22
Cmt2o 22

Classifications:



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UMLS65 C3280220

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 type 2o and charcot-marie-tooth disease, axonal, type 20. 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 2o22 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
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