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 27

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 & Phenotypes 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 Syndrome27 24 CHRNA1

Anatomical Context for Chrna1-Related Congenital Myasthenic Syndrome

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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
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