MCID: CHR331

Chrne-Related Congenital Myasthenic Syndrome malady

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

Aliases & Classifications for Chrne-Related Congenital Myasthenic Syndrome

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Aliases & Descriptions for Chrne-Related Congenital Myasthenic Syndrome:

Name: Chrne-Related Congenital Myasthenic Syndrome 22


Classifications:



Summaries for Chrne-Related Congenital Myasthenic Syndrome

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MalaCards based summary: Chrne-Related Congenital Myasthenic Syndrome An important gene associated with Chrne-Related Congenital Myasthenic Syndrome is CHRNE (Cholinergic Receptor, Nicotinic, Epsilon (Muscle)). Affiliated tissues include eye.

Symptoms for Chrne-Related Congenital Myasthenic Syndrome

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Drugs & Therapeutics for Chrne-Related Congenital Myasthenic Syndrome

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Interventional clinical trials:

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

Genetic Tests for Chrne-Related Congenital Myasthenic Syndrome

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Genetic tests related to Chrne-Related Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Chrne-Related Congenital Myasthenic Syndrome22 CHRNE

Anatomical Context for Chrne-Related Congenital Myasthenic Syndrome

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

33
Eye

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

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Publications for Chrne-Related Congenital Myasthenic Syndrome

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Variations for Chrne-Related Congenital Myasthenic Syndrome

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Expression for genes affiliated with Chrne-Related Congenital Myasthenic Syndrome

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

Pathways for genes affiliated with Chrne-Related Congenital Myasthenic Syndrome

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

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Sources for Chrne-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