MCID: DST018
MIFTS: 10

Distal Hereditary Motor Neuronopathy Type Viib malady

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

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MalaCards based summary: Distal Hereditary Motor Neuronopathy 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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Distal Hereditary Motor Neuronopathy Type Viib, Aliases & Descriptions:

Name: Distal Hereditary Motor Neuronopathy Type Viib 20 22


Classifications:

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


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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Drug clinical trials:

Search ClinicalTrials for Distal Hereditary Motor Neuronopathy Type Viib

Search NIH Clinical Center for Distal Hereditary Motor Neuronopathy Type Viib

Genetic Tests for Distal Hereditary Motor Neuronopathy Type Viib

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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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Clinvar genetic disease variations for Distal Hereditary Motor Neuronopathy Type Viib:

6
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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Expression patterns in normal tissues for genes affiliated with Distal Hereditary Motor Neuronopathy Type Viib

Search GEO for disease gene expression data for Distal Hereditary Motor Neuronopathy Type Viib.

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

Sources for Distal Hereditary Motor Neuronopathy Type Viib

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet