MCID: CHT004

Chat-Related Congenital Myasthenic Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Chat-Related Congenital Myasthenic Syndrome

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Aliases & Descriptions for Chat-Related Congenital Myasthenic Syndrome:

Name: Chat-Related Congenital Myasthenic Syndrome 24

Classifications:



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).

Symptoms & Phenotypes for Chat-Related Congenital Myasthenic Syndrome

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Drugs & Therapeutics for Chat-Related Congenital Myasthenic Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome24 CHAT

Anatomical Context for Chat-Related Congenital Myasthenic Syndrome

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

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Sources for Chat-Related Congenital Myasthenic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet