Disease table of HYPEROXALURIA, PRIMARY OMIM ID: PS259900

Gene-disease associations table

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Gene	Associated with HYPEROXALURIA, PRIMARY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AGXT	ClinVar, OMIM, HUMSAVAR	HGNC link	2q37.3	1	PS259900
GRHPR	ClinVar, OMIM	HGNC link	9p13.2	1	PS259900
HOGA1	ClinVar, OMIM, HUMSAVAR	HGNC link	10q24.2	1	PS259900

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Glyoxylate and dicarboxylate metabolism	hsa00630	8.07	3	GRHPR, HOGA1, AGXT
Glycine, serine and threonine metabolism	hsa00260	7.45	2	GRHPR, AGXT
Metabolic pathways	hsa01100	2.49	3	GRHPR, HOGA1, AGXT

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Glyoxylate and dicarboxylate metabolism (hsa00630)	-	8.07	0.0	GRHPR, HOGA1, AGXT
Glycine, serine and threonine metabolism (hsa00260)	-	7.45	0.002	GRHPR, AGXT
Arginine and proline metabolism (hsa00330)	NEW	6.84	0.006	HOGA1, AGXT
Amino acid metabolism	NEW	4.63	0.006	GRHPR, HOGA1, AGXT
Carbohydrate metabolism	NEW	4.36	0.002	GRHPR, HOGA1, AGXT

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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
Glyoxylate metabolism	R-HSA-389661	10.66	2	GRHPR, AGXT
Metabolism of amino acids and derivatives	R-HSA-71291	5.4	2	GRHPR, AGXT
Metabolism	R-HSA-1430728	2.34	2	GRHPR, AGXT

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Glyoxylate metabolism (R-HSA-389661)	-	10.66	0.0	GRHPR, AGXT
Metabolism of amino acids and derivatives (R-HSA-71291)	-	5.4	0.002	GRHPR, AGXT

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
carboxylic acid binding (GO:0031406)	4.64	2	GRHPR, AGXT
anion binding (GO:0043168)	4.17	2	GRHPR, AGXT
cofactor binding (GO:0048037)	4.16	2	GRHPR, AGXT
protein homodimerization activity (GO:0042803)	3.16	3	GRHPR, HOGA1, AGXT
protein dimerization activity (GO:0046983)	2.72	3	GRHPR, HOGA1, AGXT
identical protein binding (GO:0042802)	2.63	3	GRHPR, HOGA1, AGXT
ion binding (GO:0043167)	1.36	2	GRHPR, AGXT
catalytic activity (GO:0003824)	1.05	3	GRHPR, HOGA1, AGXT
protein binding (GO:0005515)	0.46	3	GRHPR, HOGA1, AGXT
binding (GO:0005488)	0.18	3	GRHPR, HOGA1, AGXT

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
organic acid binding (GO:0043177)	NEW	6.6	0.014	GRHPR, AGXT
carboxylic acid binding (GO:0031406)	-	4.64	0.013	GRHPR, AGXT
cofactor binding (GO:0048037)	-	4.16	0.032	GRHPR, AGXT
protein homodimerization activity (GO:0042803)	-	3.16	0.002	GRHPR, HOGA1, AGXT
protein dimerization activity (GO:0046983)	-	2.72	0.008	GRHPR, HOGA1, AGXT
identical protein binding (GO:0042802)	-	2.63	0.008	GRHPR, HOGA1, AGXT

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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
glyoxylate catabolic process (GO:0009436)	8.63	2	HOGA1, AGXT
pyruvate biosynthetic process (GO:0042866)	7.94	2	HOGA1, AGXT
glyoxylate metabolic process (GO:0046487)	6.4	3	GRHPR, HOGA1, AGXT
alpha-amino acid catabolic process (GO:1901606)	5.54	2	HOGA1, AGXT
pyruvate metabolic process (GO:0006090)	5.51	2	HOGA1, AGXT
dicarboxylic acid metabolic process (GO:0043648)	5.3	2	GRHPR, HOGA1
monocarboxylic acid catabolic process (GO:0072329)	5.26	2	HOGA1, AGXT
monocarboxylic acid biosynthetic process (GO:0072330)	4.74	2	HOGA1, AGXT
carboxylic acid catabolic process (GO:0046395)	4.58	2	HOGA1, AGXT
alpha-amino acid metabolic process (GO:1901605)	4.5	2	HOGA1, AGXT

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
glyoxylate catabolic process (GO:0009436)	-	8.63	0.0	HOGA1, AGXT
pyruvate biosynthetic process (GO:0042866)	-	7.94	0.0	HOGA1, AGXT
aldehyde catabolic process (GO:0046185)	NEW	7.43	0.0	HOGA1, AGXT
glyoxylate metabolic process (GO:0046487)	-	6.4	0.0	GRHPR, HOGA1, AGXT
cellular aldehyde metabolic process (GO:0006081)	NEW	5.74	0.0	GRHPR, HOGA1, AGXT
alpha-amino acid catabolic process (GO:1901606)	-	5.54	0.01	HOGA1, AGXT
pyruvate metabolic process (GO:0006090)	-	5.51	0.021	HOGA1, AGXT
cellular amino acid catabolic process (GO:0009063)	NEW	5.37	0.015	HOGA1, AGXT
dicarboxylic acid metabolic process (GO:0043648)	-	5.3	0.008	GRHPR, HOGA1
monocarboxylic acid catabolic process (GO:0072329)	-	5.26	0.037	HOGA1, AGXT

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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
peroxisomal matrix (GO:0005782)	6.0	2	GRHPR, AGXT
microbody lumen (GO:0031907)	6.0	2	GRHPR, AGXT
peroxisomal part (GO:0044439)	5.28	2	GRHPR, AGXT
microbody part (GO:0044438)	5.28	2	GRHPR, AGXT
organelle lumen (GO:0043233)	3.05	2	GRHPR, AGXT
intracellular organelle lumen (GO:0070013)	3.05	2	GRHPR, AGXT
membrane-enclosed lumen (GO:0031974)	3.05	2	GRHPR, AGXT
mitochondrion (GO:0005739)	2.42	2	HOGA1, AGXT
extracellular vesicle (GO:1903561)	1.89	2	GRHPR, HOGA1
extracellular organelle (GO:0043230)	1.89	2	GRHPR, HOGA1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
microbody lumen (GO:0031907)	-	6.0	0.0	GRHPR, AGXT
peroxisomal matrix (GO:0005782)	-	6.0	0.0	GRHPR, AGXT
peroxisomal part (GO:0044439)	-	5.28	0.002	GRHPR, AGXT
microbody part (GO:0044438)	-	5.28	0.002	GRHPR, AGXT

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