MCID: GLY017
MIFTS: 12

Glycogen Storage Disease Ic 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 Ic

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Sources:
48OMIM, 34MalaCards
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MalaCards: Glycogen Storage Disease Ic An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (solute carrier family 37 (glucose-6-phosphate transporter), member 4).

Description from OMIM:48 232240

Aliases & Classifications for Glycogen Storage Disease Ic

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Sources:
48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

glycogen storage disease ic 48 63


Symptoms for Glycogen Storage Disease Ic

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48OMIM
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Symptoms by clinical synopsis from OMIM:

232240

Clinical features from OMIM:

232240

Drugs & Therapeutics for Glycogen Storage Disease Ic

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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 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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Variations for Glycogen Storage Disease Ic

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ic:

65
id Symbol AA change Variation ID SNP ID
1SLC37A4p.Gln133ProVAR_025591rs193302896
2SLC37A4p.Gly376SerVAR_025604rs193302897

Clinvar genetic disease variations for Glycogen Storage Disease Ic:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
2SLC37A4NM_001164277.1(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
3SLC37A4SLC37A4, IVS8, 4-BP DELdeletionPathogenic
4SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)single nucleotide variantPathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
5SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic

Expression for genes affiliated with Glycogen Storage Disease Ic

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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 Ic

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Pathways for genes affiliated with Glycogen Storage Disease Ic

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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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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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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