MCID: MYS017

Myasthenia, Limb-Girdle, Familial malady

Genetic category

Summaries for Myasthenia, Limb-Girdle, Familial

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47OMIM, 33MalaCards
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MalaCards: Myasthenia, Limb-Girdle, Familial is related to congenital myasthenic syndrome and myasthenia gravis. An important gene associated with Myasthenia, Limb-Girdle, Familial is DOK7 (docking protein 7). Related mouse phenotype respiratory system.

Description from OMIM:47 254300

Aliases & Classifications for Myasthenia, Limb-Girdle, Familial

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

myasthenia, limb-girdle, familial 47


Related Diseases for Myasthenia, Limb-Girdle, Familial

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Myasthenia, Limb-Girdle, Familial family:

myasthenia, limb-girdle, with tubular aggregates

Diseases related to Myasthenia, Limb-Girdle, Familial via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.0AGRN
2myasthenia gravis10.0AGRN
3myopathy10.0DOK7

Clinical Features for Myasthenia, Limb-Girdle, Familial

Sources:
47OMIM
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Clinical features from OMIM:

254300

Clinical synopsis from OMIM:

254300

Drugs & Therapeutics for Myasthenia, Limb-Girdle, Familial

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Myasthenia, Limb-Girdle, Familial

Drug clinical trials:

Search ClinicalTrials for Myasthenia, Limb-Girdle, Familial

Search NIH Clinical Center for Myasthenia, Limb-Girdle, Familial

Search CenterWatch for Myasthenia, Limb-Girdle, Familial

Genetic Tests for Myasthenia, Limb-Girdle, Familial

Anatomical Context for Myasthenia, Limb-Girdle, Familial

Animal Models for Myasthenia, Limb-Girdle, Familial or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Myasthenia, Limb-Girdle, Familial:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1AGRN, DOK7

Publications for Myasthenia, Limb-Girdle, Familial

Genetic Variations for Myasthenia, Limb-Girdle, Familial

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Myasthenia, Limb-Girdle, Familial:

63 (show all 21)
id Symbol AA change Variation SNP ID
1AGRNp.Gly1709ArgVAR_068742
2AGRNp.Val1727PheVAR_069066
3DOK7p.Gly180AlaVAR_027544
4DOK7p.Arg158GlnVAR_031246rs6811423
5DOK7p.Glu3LysVAR_068750
6DOK7p.Pro31ThrVAR_068751
7DOK7p.Ala33ValVAR_068752
8DOK7p.Thr77MetVAR_068754
9DOK7p.Gly109CysVAR_068756
10DOK7p.Val116MetVAR_068757
11DOK7p.His132GlnVAR_068758
12DOK7p.Val139LeuVAR_068759
13DOK7p.Pro146LeuVAR_068760
14DOK7p.Leu157ArgVAR_068761
15DOK7p.Gly161ArgVAR_068762
16DOK7p.Gly166ArgVAR_068763
17DOK7p.Gly171AspVAR_068764
18DOK7p.Gly171ArgVAR_068765
19DOK7p.Gly172ArgVAR_068766
20DOK7p.Gly180ValVAR_068767
21DOK7p.Pro469HisVAR_068773rs147185207

Expression for genes affiliated with Myasthenia, Limb-Girdle, Familial

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myasthenia, Limb-Girdle, Familial

Search GEO for disease gene expression data for Myasthenia, Limb-Girdle, Familial.

Pathways for genes affiliated with Myasthenia, Limb-Girdle, Familial

Compounds for genes affiliated with Myasthenia, Limb-Girdle, Familial

GO Terms for genes affiliated with Myasthenia, Limb-Girdle, Familial

Sources:
16Gene Ontology
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Cellular components related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:0300549.1AGRN, DOK7

Biological processes related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor clusteringGO:0431139.1AGRN, DOK7

Products for genes affiliated with Myasthenia, Limb-Girdle, Familial

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myasthenia, Limb-Girdle, Familial

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet