Disease table of GLYCOGEN STORAGE DISEASE IB OMIM ID: 232220

Gene-disease associations table

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Gene	Associated with GLYCOGEN STORAGE DISEASE IB in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
G6PC	ClinVar	HGNC link	17q21.31	2	232220, 232200
SLC37A4	ClinVar, OMIM, HUMSAVAR	HGNC link	11q23.3	2	232220, 232240

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
G6PC	YES	1	NR0B2	0

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Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

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Gene1	Gene2	Direct interaction	More information
G6PC	SLC37A4	yes, complex	They form the complex responsible for glucose production through glycogenolysis and gluconeogenesis. [UniProt]

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KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Carbohydrate digestion and absorption	hsa04973	7.28	2	SLC37A4, G6PC

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Carbohydrate digestion and absorption (hsa04973)	-	7.28	0.002	SLC37A4, G6PC

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Glucose transport	R-HSA-70153	7.62	2	SLC37A4, G6PC
Hexose transport	R-HSA-189200	7.43	2	SLC37A4, G6PC
SLC-mediated transmembrane transport	R-HSA-425407	4.95	2	SLC37A4, G6PC
Metabolism of carbohydrates	R-HSA-71387	4.93	2	SLC37A4, G6PC
Transmembrane transport of small molecules	R-HSA-382551	3.79	2	SLC37A4, G6PC
Metabolism	R-HSA-1430728	2.34	2	SLC37A4, G6PC

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Glucose transport (R-HSA-70153)	-	7.62	0.0	SLC37A4, G6PC
Hexose transport (R-HSA-189200)	-	7.43	0.0	SLC37A4, G6PC
SLC-mediated transmembrane transport (R-HSA-425407)	-	4.95	0.007	SLC37A4, G6PC
Metabolism of carbohydrates (R-HSA-71387)	-	4.93	0.007	SLC37A4, G6PC
Transmembrane transport of small molecules (R-HSA-382551)	-	3.79	0.037	SLC37A4, G6PC

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GO - molecular function annotation: shared terms / NET-GE enrichment (no shared terms)

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
glucose-6-phosphate transport (GO:0015760)	7.78	2	SLC37A4, G6PC
hexose phosphate transport (GO:0015712)	7.78	2	SLC37A4, G6PC
carbohydrate derivative transport (GO:1901264)	5.84	2	SLC37A4, G6PC
glucose transport (GO:0015758)	5.8	2	SLC37A4, G6PC
hexose transport (GO:0008645)	5.76	2	SLC37A4, G6PC
monosaccharide transport (GO:0015749)	5.76	2	SLC37A4, G6PC
glycogen metabolic process (GO:0005977)	5.67	2	SLC37A4, G6PC
cellular glucan metabolic process (GO:0006073)	5.65	2	SLC37A4, G6PC
glucan metabolic process (GO:0044042)	5.65	2	SLC37A4, G6PC
cholesterol homeostasis (GO:0042632)	5.6	2	SLC37A4, G6PC

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
glucose-6-phosphate transport (GO:0015760)	-	7.78	0.0	SLC37A4, G6PC
hexose phosphate transport (GO:0015712)	-	7.78	0.0	SLC37A4, G6PC
carbohydrate derivative transport (GO:1901264)	-	5.84	0.001	SLC37A4, G6PC
glucose transport (GO:0015758)	-	5.8	0.001	SLC37A4, G6PC
monosaccharide transport (GO:0015749)	-	5.76	0.004	SLC37A4, G6PC
hexose transport (GO:0008645)	-	5.76	0.004	SLC37A4, G6PC
organophosphate ester transport (GO:0015748)	-	5.33	0.004	SLC37A4, G6PC
carbohydrate transport (GO:0008643)	-	5.16	0.003	SLC37A4, G6PC
glucose metabolic process (GO:0006006)	-	4.94	0.028	SLC37A4, G6PC
hexose metabolic process (GO:0019318)	-	4.64	0.05	SLC37A4, G6PC

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
integral component of endoplasmic reticulum membrane (GO:0030176)	5.01	2	SLC37A4, G6PC
intrinsic component of endoplasmic reticulum membrane (GO:0031227)	4.97	2	SLC37A4, G6PC
endoplasmic reticulum membrane (GO:0005789)	2.95	2	SLC37A4, G6PC
endoplasmic reticulum part (GO:0044432)	2.73	2	SLC37A4, G6PC
endoplasmic reticulum (GO:0005783)	2.56	2	SLC37A4, G6PC
integral component of membrane (GO:0016021)	1.14	2	SLC37A4, G6PC
intrinsic component of membrane (GO:0031224)	1.13	2	SLC37A4, G6PC
membrane part (GO:0044425)	0.95	2	SLC37A4, G6PC
cytoplasmic part (GO:0044444)	0.82	2	SLC37A4, G6PC
intracellular organelle part (GO:0044446)	0.81	2	SLC37A4, G6PC

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
integral component of endoplasmic reticulum membrane (GO:0030176)	-	5.01	0.002	SLC37A4, G6PC
integral component of organelle membrane (GO:0031301)	NEW	4.85	0.005	SLC37A4, G6PC
endoplasmic reticulum membrane (GO:0005789)	-	2.95	0.034	SLC37A4, G6PC

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