Disease table of DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY OMIM ID: 520100

Gene-disease associations table

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Gene	Associated with DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
MT-CYB	OMIM	HGNC link	MT	4	550500, 500000, 520100, 535000
MT-ND4L	OMIM	HGNC link	MT	2	520100, 535000
MT-ND5	OMIM	HGNC link	MT	6	535000, 256000, 520100, 540000, 545000, 252010

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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

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
MT-ND4L	MT-ND5	Yes	binding	43	NDUFS8, NDUFV2, MT-ND1, MT-ND2, NDUFS5, NDUFA1, NDUFB1, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFA6, NDUFA9, NDUFA12, MT-ND3, NDUFA5, NDUFAB1, NDUFA11, MT-ND6, NDUFB11, NDUFB6, NDUFB8, NDUFV1, NDUFA10, NDUFS2, NDUFB10, NDUFC1, NDUFB2, NDUFS4, MT-ND4, NDUFB9, NDUFA2, NDUFS6, NDUFAF1, NDUFB3, NDUFB5, NDUFA4, NDUFV3, NDUFC2
MT-CYB	MT-ND4L	No	-	1	NDUFA4
MT-CYB	MT-ND5	No	-	1	NDUFA4

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

Interactions from CORUM

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Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
MT-ND4L	MT-ND5	Yes	Respiratory chain complex I (holoenzyme), mitochondrial	42	NDUFS8, NDUFV2, MT-ND1, NDUFB9, NDUFS5, NDUFA1, NDUFB1, NDUFA3, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA12, MT-ND3, NDUFA5, NDUFAB1, NDUFA11, MT-ND6, NDUFB11, NDUFB6, NDUFB8, NDUFA6, NDUFA10, NDUFS2, NDUFB10, NDUFC1, NDUFB2, NDUFS4, NDUFA4, MT-ND2, NDUFA2, NDUFS6, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2

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

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
Oxidative phosphorylation	hsa00190	5.69	3	MT-ND4L, MT-ND5, MT-CYB
Parkinson's disease	hsa05012	5.59	3	MT-ND4L, MT-ND5, MT-CYB
Metabolic pathways	hsa01100	2.49	3	MT-ND4L, MT-ND5, MT-CYB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Oxidative phosphorylation (hsa00190)	-	5.69	0.0	MT-ND4L, MT-ND5, MT-CYB
Parkinson's disease (hsa05012)	-	5.59	0.0	MT-ND4L, MT-ND5, MT-CYB
Energy metabolism	NEW	5.42	0.0	MT-ND4L, MT-ND5, MT-CYB
Neurodegenerative diseases	NEW	4.27	0.002	MT-ND4L, MT-ND5, MT-CYB

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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
Respiratory electron transport	R-HSA-611105	6.44	3	MT-ND4L, MT-ND5, MT-CYB
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	R-HSA-163200	6.12	3	MT-ND4L, MT-ND5, MT-CYB
The citric acid (TCA) cycle and respiratory electron transport	R-HSA-1428517	5.71	3	MT-ND4L, MT-ND5, MT-CYB
Metabolism	R-HSA-1430728	2.34	3	MT-ND4L, MT-ND5, MT-CYB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Respiratory electron transport (R-HSA-611105)	-	6.44	0.0	MT-ND4L, MT-ND5, MT-CYB
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200)	-	6.12	0.0	MT-ND4L, MT-ND5, MT-CYB
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517)	-	5.71	0.0	MT-ND4L, MT-ND5, MT-CYB
Metabolism (R-HSA-1430728)	-	2.34	0.039	MT-ND4L, MT-ND5, MT-CYB

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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
NADH dehydrogenase (ubiquinone) activity (GO:0008137)	5.93	2	MT-ND4L, MT-ND5
NADH dehydrogenase activity (GO:0003954)	5.93	2	MT-ND4L, MT-ND5
NADH dehydrogenase (quinone) activity (GO:0050136)	5.93	2	MT-ND4L, MT-ND5
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	5.66	2	MT-ND4L, MT-ND5
oxidoreductase activity, acting on NAD(P)H (GO:0016651)	5.13	2	MT-ND4L, MT-ND5
oxidoreductase activity (GO:0016491)	3.12	3	MT-ND4L, MT-ND5, MT-CYB
catalytic activity (GO:0003824)	1.05	3	MT-ND4L, MT-ND5, MT-CYB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
NADH dehydrogenase (ubiquinone) activity (GO:0008137)	-	5.93	0.001	MT-ND4L, MT-ND5
NADH dehydrogenase activity (GO:0003954)	-	5.93	0.001	MT-ND4L, MT-ND5
NADH dehydrogenase (quinone) activity (GO:0050136)	-	5.93	0.001	MT-ND4L, MT-ND5
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	-	5.66	0.001	MT-ND4L, MT-ND5
oxidoreductase activity, acting on NAD(P)H (GO:0016651)	-	5.13	0.016	MT-ND4L, MT-ND5
oxidoreductase activity (GO:0016491)	-	3.12	0.002	MT-ND4L, MT-ND5, MT-CYB

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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
ATP synthesis coupled electron transport (GO:0042773)	7.65	2	MT-ND4L, MT-ND5
mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.84	2	MT-ND4L, MT-ND5
respiratory electron transport chain (GO:0022904)	5.11	3	MT-ND4L, MT-ND5, MT-CYB
electron transport chain (GO:0022900)	5.09	3	MT-ND4L, MT-ND5, MT-CYB
response to hypoxia (GO:0001666)	4.13	2	MT-ND5, MT-CYB
response to decreased oxygen levels (GO:0036293)	4.09	2	MT-ND5, MT-CYB
generation of precursor metabolites and energy (GO:0006091)	4.07	3	MT-ND4L, MT-ND5, MT-CYB
response to oxygen levels (GO:0070482)	4.02	2	MT-ND5, MT-CYB
response to inorganic substance (GO:0010035)	3.56	2	MT-ND5, MT-CYB
response to organonitrogen compound (GO:0010243)	3.2	2	MT-ND5, MT-CYB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	-	5.84	0.001	MT-ND4L, MT-ND5
respiratory electron transport chain (GO:0022904)	-	5.11	0.0	MT-ND4L, MT-ND5, MT-CYB
electron transport chain (GO:0022900)	-	5.09	0.0	MT-ND4L, MT-ND5, MT-CYB
generation of precursor metabolites and energy (GO:0006091)	-	4.07	0.021	MT-ND4L, MT-ND5, MT-CYB
oxidation-reduction process (GO:0055114)	-	2.91	0.006	MT-ND4L, MT-ND5, MT-CYB

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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
NADH dehydrogenase complex (GO:0030964)	5.91	2	MT-ND4L, MT-ND5
respiratory chain complex I (GO:0045271)	5.91	2	MT-ND4L, MT-ND5
mitochondrial respiratory chain complex I (GO:0005747)	5.91	2	MT-ND4L, MT-ND5
respiratory chain (GO:0070469)	5.51	3	MT-ND4L, MT-ND5, MT-CYB
respiratory chain complex (GO:0098803)	5.47	3	MT-ND4L, MT-ND5, MT-CYB
oxidoreductase complex (GO:1990204)	5.19	3	MT-ND4L, MT-ND5, MT-CYB
inner mitochondrial membrane protein complex (GO:0098800)	5.01	3	MT-ND4L, MT-ND5, MT-CYB
mitochondrial protein complex (GO:0098798)	4.78	3	MT-ND4L, MT-ND5, MT-CYB
mitochondrial membrane part (GO:0044455)	4.54	3	MT-ND4L, MT-ND5, MT-CYB
mitochondrial inner membrane (GO:0005743)	3.65	2	MT-ND5, MT-CYB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
respiratory chain complex I (GO:0045271)	-	5.91	0.001	MT-ND4L, MT-ND5
NADH dehydrogenase complex (GO:0030964)	-	5.91	0.001	MT-ND4L, MT-ND5
mitochondrial respiratory chain complex I (GO:0005747)	-	5.91	0.001	MT-ND4L, MT-ND5
oxidoreductase complex (GO:1990204)	-	5.19	0.0	MT-ND4L, MT-ND5, MT-CYB
mitochondrial membrane part (GO:0044455)	-	4.54	0.0	MT-ND4L, MT-ND5, MT-CYB
mitochondrial inner membrane (GO:0005743)	-	3.65	0.0	MT-ND4L, MT-ND5, MT-CYB
organelle inner membrane (GO:0019866)	-	3.56	0.0	MT-ND4L, MT-ND5, MT-CYB
mitochondrial membrane (GO:0031966)	-	3.31	0.001	MT-ND4L, MT-ND5, MT-CYB
mitochondrial part (GO:0044429)	-	2.92	0.034	MT-ND4L, MT-ND5, MT-CYB
catalytic complex (GO:1902494)	-	2.9	0.002	MT-ND4L, MT-ND5, MT-CYB

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