MCID: CHR331
MIFTS: 7

Chrne-Related Congenital Myasthenic Syndrome malady

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

Aliases & Classifications for Chrne-Related Congenital Myasthenic Syndrome

Aliases & Descriptions for Chrne-Related Congenital Myasthenic Syndrome:

Name: Chrne-Related Congenital Myasthenic Syndrome 24

Classifications:



Summaries for Chrne-Related Congenital Myasthenic Syndrome

MalaCards based summary : Chrne-Related Congenital Myasthenic Syndrome An important gene associated with Chrne-Related Congenital Myasthenic Syndrome is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit).

Symptoms & Phenotypes for Chrne-Related Congenital Myasthenic Syndrome

Drugs & Therapeutics for Chrne-Related Congenital Myasthenic Syndrome

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

Genetic Tests for Chrne-Related Congenital Myasthenic Syndrome

Genetic tests related to Chrne-Related Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Chrne-Related Congenital Myasthenic Syndrome 24 CHRNE

Anatomical Context for Chrne-Related Congenital Myasthenic Syndrome

Publications for Chrne-Related Congenital Myasthenic Syndrome

Variations for Chrne-Related Congenital Myasthenic Syndrome

Expression for Chrne-Related Congenital Myasthenic Syndrome

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

Pathways for Chrne-Related Congenital Myasthenic Syndrome

GO Terms for Chrne-Related Congenital Myasthenic Syndrome

Sources for Chrne-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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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