MCID: GLY020
MIFTS: 11

Glycogen Storage Disease Iiib malady

Genetic diseases, Rare diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases categories

Summaries for Glycogen Storage Disease Iiib

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48OMIM, 34MalaCards
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MalaCards: Glycogen Storage Disease Iiib An important gene associated with Glycogen Storage Disease Iiib is AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase).

Description from OMIM:48 232400

Aliases & Classifications for Glycogen Storage Disease Iiib

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48OMIM
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Classifications:



Aliases & Descriptions:

glycogen storage disease iiib 48


Symptoms for Glycogen Storage Disease Iiib

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48OMIM
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Clinical features from OMIM:

232400

Drugs & Therapeutics for Glycogen Storage Disease Iiib

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Iiib

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Anatomical Context for Glycogen Storage Disease Iiib

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Animal Models for Glycogen Storage Disease Iiib or affiliated genes

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Publications for Glycogen Storage Disease Iiib

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Variations for Glycogen Storage Disease Iiib

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Iiib:

65
id Symbol AA change Variation ID SNP ID
1AGLp.Gly1448ArgVAR_009231

Clinvar genetic disease variations for Glycogen Storage Disease Iiib:

1
id Gene Name Type Significance SNP ID Assembly Location
1AGLNM_000642.2(AGL): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs113994126GRCh37Chr 1, 100316614: 100316614
2AGLNM_000642.2(AGL): c.2039G> A (p.Trp680Ter)single nucleotide variantPathogenicrs113994129GRCh37Chr 1, 100346885: 100346885
3AGLNM_000642.2(AGL): c.17_18delAG (p.Gln6Hisfs)deletionPathogenicrs113994127GRCh37Chr 1, 100316615: 100316616
4AGLNM_000642.2(AGL): c.4260-12A> Gsingle nucleotide variantPathogenicGRCh37Chr 1, 100382143: 100382143
5AGLNM_000642.2(AGL): c.3965delT (p.Val1322Alafs)deletionPathogenicrs113994132GRCh37Chr 1, 100379098: 100379098
6AGLNM_000642.2(AGL): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs113994128GRCh37Chr 1, 100340950: 100340950
7AGLNM_000642.2(AGL): c.2590C> T (p.Arg864Ter)single nucleotide variantPathogenicrs113994130GRCh37Chr 1, 100350168: 100350168
8AGLNM_000642.2(AGL): c.3682C> T (p.Arg1228Ter)single nucleotide variantPathogenicrs113994131GRCh37Chr 1, 100368332: 100368332
9AGLNM_000642.2(AGL): c.4455delT (p.Ser1486Profs)deletionPathogenicrs113994134GRCh37Chr 1, 100382261: 100382261

Expression for genes affiliated with Glycogen Storage Disease Iiib

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Iiib

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Pathways for genes affiliated with Glycogen Storage Disease Iiib

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Compounds for genes affiliated with Glycogen Storage Disease Iiib

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GO Terms for genes affiliated with Glycogen Storage Disease Iiib

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Products for genes affiliated with Glycogen Storage Disease Iiib

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Iiib

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet