MCID: DST018
MIFTS: 12

Distal Hereditary Motor Neuronopathy Type Viib malady

Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases categories
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Summaries for Distal Hereditary Motor Neuronopathy Type Viib

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MalaCards: Distal Hereditary Motor Neuronopathy Type Viib, is also known as neuronopathy, distal hereditary motor, type viib An important gene associated with Distal Hereditary Motor Neuronopathy Type Viib is DCTN1 (dynactin 1).

Aliases & Classifications for Distal Hereditary Motor Neuronopathy Type Viib

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20GeneTests, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

distal hereditary motor neuronopathy type viib 20 22
neuronopathy, distal hereditary motor, type viib 62


Related Diseases for Distal Hereditary Motor Neuronopathy Type Viib

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Symptoms for Distal Hereditary Motor Neuronopathy Type Viib

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Drugs & Therapeutics for Distal Hereditary Motor Neuronopathy Type Viib

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Distal Hereditary Motor Neuronopathy Type Viib

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20GeneTests, 22GTR
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Genetic tests related to Distal Hereditary Motor Neuronopathy Type Viib:

id Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type Viib20 DCTN1
2 Distal Hereditary Motor Neuronopathy Type 7b22

Anatomical Context for Distal Hereditary Motor Neuronopathy Type Viib

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Animal Models for Distal Hereditary Motor Neuronopathy Type Viib or affiliated genes

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Publications for Distal Hereditary Motor Neuronopathy Type Viib

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Variations for Distal Hereditary Motor Neuronopathy Type Viib

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Distal Hereditary Motor Neuronopathy Type Viib:

1
id Gene Name Type Significance SNP ID Assembly Location
1DCTN1NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser)single nucleotide variantPathogenicrs121909342GRCh37Chr 2, 74605231: 74605231

Expression for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

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Pathways for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

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Compounds for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

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GO Terms for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

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Products for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Hereditary Motor Neuronopathy Type Viib

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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