MCID: GLY017

Glycogen Storage Disease Ic malady

Summaries for Glycogen Storage Disease Ic

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47OMIM, 33MalaCards
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MalaCards: Glycogen Storage Disease Ic is related to glycogen storage disease and hyperuricemia. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (solute carrier family 37 (glucose-6-phosphate transporter), member 4), and among its related pathways is SLC-mediated transmembrane transport.

Description from OMIM:47 232240

Aliases & Classifications for Glycogen Storage Disease Ic

Sources:
47OMIM, 61UMLS
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Aliases & Descriptions:

glycogen storage disease ic 47 61


Related Diseases for Glycogen Storage Disease Ic

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17GeneCards, 18GeneDecks
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Clinical Features for Glycogen Storage Disease Ic

Sources:
47OMIM
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Clinical features from OMIM:

232240

Clinical synopsis from OMIM:

232240

Drugs & Therapeutics for Glycogen Storage Disease Ic

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

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Ic

Anatomical Context for Glycogen Storage Disease Ic

Animal Models for Glycogen Storage Disease Ic or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Glycogen Storage Disease Ic

Genetic Variations for Glycogen Storage Disease Ic

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Ic:

63
id Symbol AA change Variation SNP ID
1SLC37A4p.Gln133ProVAR_025591rs193302896
2SLC37A4p.Gly376SerVAR_025604rs193302897

Expression for genes affiliated with Glycogen Storage Disease Ic

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Ic

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Pathways for genes affiliated with Glycogen Storage Disease Ic

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54Reactome
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Pathways related to Glycogen Storage Disease Ic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1SLC17A3, SLC37A4

Compounds for genes affiliated with Glycogen Storage Disease Ic

GO Terms for genes affiliated with Glycogen Storage Disease Ic

Sources:
16Gene Ontology
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Cellular components related to Glycogen Storage Disease Ic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057899.1SLC17A3, SLC37A4

Biological processes related to Glycogen Storage Disease Ic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550859.1SLC17A3, SLC37A4
2glucose-6-phosphate transportGO:0157608.8SLC17A3, SLC37A4

Products for genes affiliated with Glycogen Storage Disease Ic

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Ic

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