Disease table of MOLYBDENUM COFACTOR DEFICIENCY OMIM ID: PS252150

Gene-disease associations table

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Gene	Associated with MOLYBDENUM COFACTOR DEFICIENCY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
GPHN	ClinVar, OMIM, HUMSAVAR	HGNC link	14q23.3	2	PS252150, 149400
MOCS1	ClinVar, OMIM, HUMSAVAR	HGNC link	6p21.2	1	PS252150
MOCS2	ClinVar, OMIM, HUMSAVAR	HGNC link	5q11.2	1	PS252150

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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

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
MOCS2	MOCS1	Yes	binding	0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

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
Sulfur relay system	hsa04122	9.31	2	MOCS2, MOCS1
Folate biosynthesis	hsa00790	8.86	2	MOCS2, MOCS1
Metabolic pathways	hsa01100	2.49	2	MOCS2, MOCS1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Sulfur relay system (hsa04122)	-	9.31	0.0	MOCS2, MOCS1
Folate biosynthesis (hsa00790)	-	8.86	0.0	MOCS2, MOCS1
Metabolism of cofactors and vitamins	NEW	5.16	0.009	MOCS2, MOCS1
Folding, sorting and degradation	NEW	3.86	0.015	MOCS2, MOCS1

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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
Molybdenum cofactor biosynthesis	R-HSA-947581	10.18	3	MOCS2, GPHN, MOCS1
Metabolism of vitamins and cofactors	R-HSA-196854	6.54	3	MOCS2, GPHN, MOCS1
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54	3	MOCS2, GPHN, MOCS1
Metabolism	R-HSA-1430728	2.34	3	MOCS2, GPHN, MOCS1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Molybdenum cofactor biosynthesis (R-HSA-947581)	-	10.18	0.0	MOCS2, GPHN, MOCS1
Metabolism of vitamins and cofactors (R-HSA-196854)	-	6.54	0.0	MOCS2, GPHN, MOCS1
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849)	-	6.54	0.0	MOCS2, GPHN, MOCS1
Metabolism (R-HSA-1430728)	-	2.34	0.008	MOCS2, GPHN, MOCS1

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
purine ribonucleoside triphosphate binding (GO:0035639)	2.22	2	GPHN, MOCS1
ribonucleoside binding (GO:0032549)	2.22	2	GPHN, MOCS1
purine ribonucleoside binding (GO:0032550)	2.22	2	GPHN, MOCS1
purine nucleoside binding (GO:0001883)	2.22	2	GPHN, MOCS1
nucleoside binding (GO:0001882)	2.21	2	GPHN, MOCS1
purine ribonucleotide binding (GO:0032555)	2.2	2	GPHN, MOCS1
ribonucleotide binding (GO:0032553)	2.19	2	GPHN, MOCS1
purine nucleotide binding (GO:0017076)	2.19	2	GPHN, MOCS1
carbohydrate derivative binding (GO:0097367)	2.03	2	GPHN, MOCS1
nucleotide binding (GO:0000166)	1.96	3	MOCS2, GPHN, MOCS1

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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
Mo-molybdopterin cofactor biosynthetic process (GO:0006777)	7.94	3	MOCS2, GPHN, MOCS1
molybdopterin cofactor metabolic process (GO:0043545)	7.94	3	MOCS2, GPHN, MOCS1
prosthetic group metabolic process (GO:0051189)	7.94	3	MOCS2, GPHN, MOCS1
Mo-molybdopterin cofactor metabolic process (GO:0019720)	7.94	3	MOCS2, GPHN, MOCS1
molybdopterin cofactor biosynthetic process (GO:0032324)	7.94	3	MOCS2, GPHN, MOCS1
GTP metabolic process (GO:0046039)	6.59	3	MOCS2, GPHN, MOCS1
guanosine-containing compound metabolic process (GO:1901068)	5.9	3	MOCS2, GPHN, MOCS1
coenzyme biosynthetic process (GO:0009108)	4.89	3	MOCS2, GPHN, MOCS1
purine ribonucleoside triphosphate metabolic process (GO:0009205)	4.81	3	MOCS2, GPHN, MOCS1
ribonucleoside triphosphate metabolic process (GO:0009199)	4.77	3	MOCS2, GPHN, MOCS1

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NET-GE enrichment

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Term	New enriched term	IC	Genes
Mo-molybdopterin cofactor biosynthetic process (GO:0006777)	-	7.94	MOCS2, GPHN, MOCS1
molybdopterin cofactor metabolic process (GO:0043545)	-	7.94	MOCS2, GPHN, MOCS1
prosthetic group metabolic process (GO:0051189)	-	7.94	MOCS2, GPHN, MOCS1
Mo-molybdopterin cofactor metabolic process (GO:0019720)	-	7.94	MOCS2, GPHN, MOCS1
molybdopterin cofactor biosynthetic process (GO:0032324)	-	7.94	MOCS2, GPHN, MOCS1
water-soluble vitamin metabolic process (GO:0006767)	NEW	5.29	MOCS2, GPHN, MOCS1
vitamin metabolic process (GO:0006766)	NEW	4.97	MOCS2, GPHN, MOCS1
coenzyme biosynthetic process (GO:0009108)	-	4.89	MOCS2, GPHN, MOCS1
cofactor biosynthetic process (GO:0051188)	-	4.62	MOCS2, GPHN, MOCS1
coenzyme metabolic process (GO:0006732)	-	4.14	MOCS2, GPHN, MOCS1

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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
molybdopterin synthase complex (GO:0019008)	9.11	2	MOCS2, MOCS1
cytosol (GO:0005829)	1.68	2	MOCS2, MOCS1
protein complex (GO:0043234)	1.51	2	MOCS2, MOCS1
macromolecular complex (GO:0032991)	1.35	2	MOCS2, MOCS1
nucleus (GO:0005634)	1.07	2	MOCS2, MOCS1
cytoplasm (GO:0005737)	1.01	2	MOCS2, GPHN
cytoplasmic part (GO:0044444)	0.82	2	MOCS2, MOCS1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	MOCS2, MOCS1
intracellular organelle (GO:0043229)	0.51	3	MOCS2, GPHN, MOCS1
membrane-bounded organelle (GO:0043227)	0.47	2	MOCS2, MOCS1

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