MCID: GLY017
MIFTS: 13

Glycogen Storage Disease Ic malady

Summaries for Glycogen Storage Disease Ic

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46OMIM, 32MalaCards
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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:46 232240

Aliases & Classifications for Glycogen Storage Disease Ic

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46OMIM, 60UMLS
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Aliases & Descriptions:

glycogen storage disease ic 46 60


Related Diseases for Glycogen Storage Disease Ic

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

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46OMIM
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Clinical features from OMIM:

232240

Clinical synopsis from OMIM:

232240

Drugs & Therapeutics for Glycogen Storage Disease Ic

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Sources:
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 Glycogen Storage Disease Ic

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Anatomical Context for Glycogen Storage Disease Ic

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Animal Models for Glycogen Storage Disease Ic or affiliated genes

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Publications for Glycogen Storage Disease Ic

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Genetic Variations for Glycogen Storage Disease Ic

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Ic:

62
id Symbol AA change Variation ID SNP ID
1SLC37A4p.Gln133ProVAR_025591rs193302896
2SLC37A4p.Gly376SerVAR_025604rs193302897

Expression for genes affiliated with Glycogen Storage Disease Ic

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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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53Reactome
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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

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GO Terms for genes affiliated with Glycogen Storage Disease Ic

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Ic

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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