MCID: CHT004

Chat-Related Congenital Myasthenic Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Chat-Related Congenital Myasthenic Syndrome

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MalaCards based summary: Chat-Related Congenital Myasthenic Syndrome An important gene associated with Chat-Related Congenital Myasthenic Syndrome is CHAT (choline O-acetyltransferase).

Aliases & Classifications for Chat-Related Congenital Myasthenic Syndrome

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Chat-Related Congenital Myasthenic Syndrome, Aliases & Descriptions:

Name: Chat-Related Congenital Myasthenic Syndrome 20


Classifications:

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


Related Diseases for Chat-Related Congenital Myasthenic Syndrome

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Symptoms for Chat-Related Congenital Myasthenic Syndrome

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Drugs & Therapeutics for Chat-Related Congenital Myasthenic Syndrome

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Drug clinical trials:

Search ClinicalTrials for Chat-Related Congenital Myasthenic Syndrome

Search NIH Clinical Center for Chat-Related Congenital Myasthenic Syndrome

Genetic Tests for Chat-Related Congenital Myasthenic Syndrome

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Genetic tests related to Chat-Related Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Chat-Related Congenital Myasthenic Syndrome20 CHAT

Anatomical Context for Chat-Related Congenital Myasthenic Syndrome

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Animal Models for Chat-Related Congenital Myasthenic Syndrome or affiliated genes

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Publications for Chat-Related Congenital Myasthenic Syndrome

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Variations for Chat-Related Congenital Myasthenic Syndrome

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Expression for genes affiliated with Chat-Related Congenital Myasthenic Syndrome

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Search GEO for disease gene expression data for Chat-Related Congenital Myasthenic Syndrome.

Pathways for genes affiliated with Chat-Related Congenital Myasthenic Syndrome

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Compounds for genes affiliated with Chat-Related Congenital Myasthenic Syndrome

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GO Terms for genes affiliated with Chat-Related Congenital Myasthenic Syndrome

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Products for genes affiliated with Chat-Related Congenital Myasthenic Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chat-Related Congenital Myasthenic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet