MCID: MYS020

Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency malady

Summaries for Myasthenic Syndrome, Congenital, Associated with Facial...

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46OMIM, 32MalaCards
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MalaCards: Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency An important gene associated with Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency is RAPSN (receptor-associated protein of the synapse).

Description from OMIM:46 608931

Aliases & Classifications for Myasthenic Syndrome, Congenital, Associated with Facial...

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46OMIM
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Aliases & Descriptions:

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency 46


Related Diseases for Myasthenic Syndrome, Congenital, Associated with Facial...

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Clinical Features for Myasthenic Syndrome, Congenital, Associated with Facial...

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46OMIM
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Clinical features from OMIM:

608931

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, Associated with Facial...

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myasthenic Syndrome, Congenital, Associated with Facial...

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Anatomical Context for Myasthenic Syndrome, Congenital, Associated with Facial...

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Animal Models for Myasthenic Syndrome, Congenital, Associated with Facial... or affiliated genes

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Publications for Myasthenic Syndrome, Congenital, Associated with Facial...

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Genetic Variations for Myasthenic Syndrome, Congenital, Associated with Facial...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1CHRNEp.Arg167LeuVAR_000290
2CHRNEp.Pro265LeuVAR_000291
3CHRNEp.Arg331TrpVAR_000294
4MUSKp.Val790MetVAR_023046
5MUSKp.Met605IleVAR_066604
6MUSKp.Ala727ValVAR_066605
7RAPSNp.Leu14ProVAR_021216
8RAPSNp.Asn88LysVAR_021217rs104894299
9RAPSNp.Val45MetVAR_043898
10RAPSNp.Glu162LysVAR_043900
11RAPSNp.Arg164CysVAR_043901
12RAPSNp.Leu283ProVAR_043903

Expression for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency.

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

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Compounds for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

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GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

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Products for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myasthenic Syndrome, Congenital, Associated with Facial...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet