MCID: CHR323
MIFTS: 10

Chrna1-Related Congenital Myasthenic Syndrome malady

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

Aliases & Classifications for Chrna1-Related Congenital Myasthenic Syndrome

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Aliases & Descriptions for Chrna1-Related Congenital Myasthenic Syndrome:

Name: Chrna1-Related Congenital Myasthenic Syndrome 24 26

Classifications:



Summaries for Chrna1-Related Congenital Myasthenic Syndrome

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MalaCards based summary: Chrna1-Related Congenital Myasthenic Syndrome is related to congenital myasthenic syndrome. An important gene associated with Chrna1-Related Congenital Myasthenic Syndrome is CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit).

Symptoms for Chrna1-Related Congenital Myasthenic Syndrome

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Drugs & Therapeutics for Chrna1-Related Congenital Myasthenic Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chrna1-Related Congenital Myasthenic Syndrome

Genetic Tests for Chrna1-Related Congenital Myasthenic Syndrome

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Genetic tests related to Chrna1-Related Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Chrna1-Related Congenital Myasthenic Syndrome26 24 CHRNA1

Anatomical Context for Chrna1-Related Congenital Myasthenic Syndrome

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Animal Models for Chrna1-Related Congenital Myasthenic Syndrome or affiliated genes

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Publications for Chrna1-Related Congenital Myasthenic Syndrome

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Articles related to Chrna1-Related Congenital Myasthenic Syndrome:

idTitleAuthorsYear
1
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. (27748205)
2017

Variations for Chrna1-Related Congenital Myasthenic Syndrome

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Expression for genes affiliated with Chrna1-Related Congenital Myasthenic Syndrome

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Search GEO for disease gene expression data for Chrna1-Related Congenital Myasthenic Syndrome.

Pathways for genes affiliated with Chrna1-Related Congenital Myasthenic Syndrome

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GO Terms for genes affiliated with Chrna1-Related Congenital Myasthenic Syndrome

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Sources for Chrna1-Related Congenital Myasthenic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet