MCID: DST018
MIFTS: 12

Distal Hereditary Motor Neuronopathy Type Viib malady

Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases categories

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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21GeneTests, 23GTR, 63UMLS
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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 21 23
neuronopathy, distal hereditary motor, type viib 63


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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Distal Hereditary Motor Neuronopathy Type Viib

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21GeneTests, 23GTR
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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 Viib21 DCTN1
2 Distal Hereditary Motor Neuronopathy Type 7b23

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, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Distal Hereditary Motor Neuronopathy Type Viib

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet