MCID: CHT004

Chat-Related Congenital Myasthenic Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye 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 22

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). Affiliated tissues include eye.

Symptoms 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 Syndrome22 CHAT

Anatomical Context for Chat-Related Congenital Myasthenic Syndrome

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MalaCards organs/tissues related to Chat-Related Congenital Myasthenic Syndrome:

33
Eye

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet