MCID: MYS017
MIFTS: 17

Myasthenia, Limb-Girdle, Familial malady

Genetic diseases (common) category
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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. An important gene associated with Myasthenia, Limb-Girdle, Familial is DOK7 (docking protein 7). Related mouse phenotypes are behavior/neurological and respiratory system.

Description from OMIM:47 254300

Aliases & Classifications for Myasthenia, Limb-Girdle, Familial

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47OMIM
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Classifications:

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


Aliases & Descriptions:

myasthenia, limb-girdle, familial 47


Related Diseases for Myasthenia, Limb-Girdle, Familial

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17GeneCards, 18GeneDecks
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Diseases related to Myasthenia, Limb-Girdle, Familial via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.1AGRN

Symptoms for Myasthenia, Limb-Girdle, Familial

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47OMIM
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Symptoms by clinical synopsis from OMIM:

254300

Clinical features from OMIM:

254300

Drugs & Therapeutics for Myasthenia, Limb-Girdle, Familial

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Myasthenia, Limb-Girdle, Familial

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

Genetic Tests for Myasthenia, Limb-Girdle, Familial

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Anatomical Context for Myasthenia, Limb-Girdle, Familial

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

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37MGI
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MGI Mouse Phenotypes related to Myasthenia, Limb-Girdle, Familial:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1AGRN, DOK7
2MP:00053888.8AGRN, DOK7

Publications for Myasthenia, Limb-Girdle, Familial

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Variations for Myasthenia, Limb-Girdle, Familial

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myasthenia, Limb-Girdle, Familial:

64 (show all 21)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Myasthenia, Limb-Girdle, Familial:

1
id Gene Name Type Significance SNP ID Assembly Location
1DOK7DOK7, 4-BP DUP, 1124TGCCduplicationPathogenic
2DOK7DOK7, 1-BP INS, 1263CinsertionPathogenic
3DOK7DOK7, 4-BP DEL, 548TCCTdeletionPathogenic
4DOK7DOK7, 4-BP DUP, 1339CTGGduplicationPathogenic
5DOK7DOK7, 1-BP INS, 1143CinsertionPathogenic
6DOK7NM_173660.4(DOK7): c.539G> C (p.Gly180Ala)single nucleotide variantPathogenicrs118203994GRCh37Chr 4, 3487272: 3487272
7DOK7NM_173660.4(DOK7): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs118203995GRCh37Chr 4, 3487334: 3487334
8DOK7DOK7, IVS2, G-T, -1single nucleotide variantPathogenic
9DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
10DOK7DOK7, 1-BP INS, 1378CinsertionPathogenic

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

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2BioGPS, 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

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

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

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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
1neuromuscular junction developmentGO:0075289.1AGRN, DOK7
2receptor clusteringGO:0431138.8AGRN, DOK7

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

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Sources for Myasthenia, Limb-Girdle, Familial

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet