MCID: CHR323
MIFTS: 10

Chrna1-Related Congenital Myasthenic Syndrome

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

Aliases & Classifications for Chrna1-Related Congenital Myasthenic Syndrome

MalaCards integrated aliases for Chrna1-Related Congenital Myasthenic Syndrome:

Name: Chrna1-Related Congenital Myasthenic Syndrome 24 29

Classifications:



Summaries for Chrna1-Related Congenital Myasthenic Syndrome

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

Drugs & Therapeutics for Chrna1-Related Congenital Myasthenic Syndrome

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

Genetic Tests for Chrna1-Related Congenital Myasthenic Syndrome

Genetic tests related to Chrna1-Related Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Chrna1-Related Congenital Myasthenic Syndrome 29 24 CHRNA1

Anatomical Context for Chrna1-Related Congenital Myasthenic Syndrome

Publications for Chrna1-Related Congenital Myasthenic Syndrome

Articles related to Chrna1-Related Congenital Myasthenic Syndrome:

id Title Authors Year
1
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. ( 27748205 )
2017

Variations for Chrna1-Related Congenital Myasthenic Syndrome

Expression for Chrna1-Related Congenital Myasthenic Syndrome

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

Pathways for Chrna1-Related Congenital Myasthenic Syndrome

GO Terms for Chrna1-Related Congenital Myasthenic Syndrome

Sources for Chrna1-Related Congenital Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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