Disease table of MITOCHONDRIAL COMPLEX II DEFICIENCY OMIM ID: 252011

Gene-disease associations table

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Gene	Associated with MITOCHONDRIAL COMPLEX II DEFICIENCY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
SDHA	OMIM, HUMSAVAR	HGNC link	5p15.33	5	252011, 604287, PS115200, PS168000, 256000
SDHAF1	OMIM, HUMSAVAR	HGNC link	19q13.12	1	252011
SDHD	OMIM, HUMSAVAR	HGNC link	11q23.1	6	252011, PS168000, 606864, 114900, 171300, PS158350

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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
SDHA	SDHD	Yes	binding	2	SDHC, SDHB

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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

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Gene1	Gene2	Direct interaction	More information
SDHA	SDHD	yes, complex	Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. [UniProt]

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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
Citrate cycle (TCA cycle)	hsa00020	7.86	2	SDHD, SDHA
Carbon metabolism	hsa01200	6.03	2	SDHD, SDHA
Oxidative phosphorylation	hsa00190	5.69	2	SDHD, SDHA
Parkinson's disease	hsa05012	5.59	2	SDHD, SDHA
Non-alcoholic fatty liver disease (NAFLD)	hsa04932	5.51	2	SDHD, SDHA
Alzheimer's disease	hsa05010	5.34	2	SDHD, SDHA
Huntington's disease	hsa05016	5.17	2	SDHD, SDHA
Metabolic pathways	hsa01100	2.49	2	SDHD, SDHA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Citrate cycle (TCA cycle) (hsa00020)	-	7.86	0.0	SDHD, SDHA
Carbon metabolism (hsa01200)	-	6.03	0.004	SDHD, SDHA
Oxidative phosphorylation (hsa00190)	-	5.69	0.006	SDHD, SDHA
Parkinson's disease (hsa05012)	-	5.59	0.007	SDHD, SDHA
Non-alcoholic fatty liver disease (NAFLD) (hsa04932)	-	5.51	0.018	SDHD, SDHA
Energy metabolism	NEW	5.42	0.01	SDHD, SDHA
Alzheimer's disease (hsa05010)	-	5.34	0.01	SDHD, SDHA
Huntington's disease (hsa05016)	-	5.17	0.012	SDHD, SDHA
Endocrine and metabolic diseases	NEW	4.75	0.022	SDHD, SDHA
Carbohydrate metabolism	NEW	4.36	0.038	SDHD, SDHA

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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
Citric acid cycle (TCA cycle)	R-HSA-71403	8.73	2	SDHD, SDHA
Pyruvate metabolism and Citric Acid (TCA) cycle	R-HSA-71406	7.56	2	SDHD, SDHA
Respiratory electron transport	R-HSA-611105	6.44	2	SDHD, SDHA
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	R-HSA-163200	6.12	2	SDHD, SDHA
The citric acid (TCA) cycle and respiratory electron transport	R-HSA-1428517	5.71	2	SDHD, SDHA
Metabolism	R-HSA-1430728	2.34	2	SDHD, SDHA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Citric acid cycle (TCA cycle) (R-HSA-71403)	-	8.73	0.0	SDHD, SDHA
Pyruvate metabolism and Citric Acid (TCA) cycle (R-HSA-71406)	-	7.56	0.0	SDHD, SDHA
Respiratory electron transport (R-HSA-611105)	-	6.44	0.001	SDHD, SDHA
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200)	-	6.12	0.003	SDHD, SDHA
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517)	-	5.71	0.007	SDHD, SDHA

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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
succinate dehydrogenase activity (GO:0000104)	8.13	2	SDHD, SDHA
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	5.66	2	SDHD, SDHA
cofactor binding (GO:0048037)	4.16	2	SDHD, SDHA
oxidoreductase activity (GO:0016491)	3.12	2	SDHD, SDHA
heterocyclic compound binding (GO:1901363)	1.06	2	SDHD, SDHA
organic cyclic compound binding (GO:0097159)	1.05	2	SDHD, SDHA
catalytic activity (GO:0003824)	1.05	2	SDHD, SDHA
binding (GO:0005488)	0.18	2	SDHD, SDHA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
succinate dehydrogenase activity (GO:0000104)	-	8.13	0.0	SDHD, SDHA
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	-	5.66	0.0	SDHD, SDHA
tetrapyrrole binding (GO:0046906)	NEW	4.8	0.011	SDHD, SDHA
cofactor binding (GO:0048037)	-	4.16	0.007	SDHD, SDHA

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

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GO	IC	Number of genes with the same GO	Genes
tricarboxylic acid cycle (GO:0006099)	6.33	2	SDHD, SDHA
organic acid metabolic process (GO:0006082)	3.01	2	SDHD, SDHA
oxidation-reduction process (GO:0055114)	2.91	2	SDHD, SDHA
small molecule metabolic process (GO:0044281)	2.38	2	SDHD, SDHA
single-organism metabolic process (GO:0044710)	1.63	2	SDHD, SDHA
primary metabolic process (GO:0044238)	0.69	2	SDHD, SDHA
cellular metabolic process (GO:0044237)	0.69	2	SDHD, SDHA
single-organism cellular process (GO:0044763)	0.65	2	SDHD, SDHA
organic substance metabolic process (GO:0071704)	0.63	2	SDHD, SDHA
metabolic process (GO:0008152)	0.58	2	SDHD, SDHA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
tricarboxylic acid cycle (GO:0006099)	-	6.33	0.0	SDHD, SDHA
respiratory electron transport chain (GO:0022904)	NEW	5.11	0.01	SDHD, SDHA
electron transport chain (GO:0022900)	NEW	5.09	0.005	SDHD, SDHA

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

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GO	IC	Number of genes with the same GO	Genes
succinate dehydrogenase complex (ubiquinone) (GO:0045257)	8.42	2	SDHD, SDHA
fumarate reductase complex (GO:0045283)	8.42	2	SDHD, SDHA
succinate dehydrogenase complex (GO:0045281)	8.42	2	SDHD, SDHA
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) (GO:0005749)	8.42	2	SDHD, SDHA
respiratory chain complex (GO:0098803)	5.47	2	SDHD, SDHA
oxidoreductase complex (GO:1990204)	5.19	2	SDHD, SDHA
inner mitochondrial membrane protein complex (GO:0098800)	5.01	2	SDHD, SDHA
mitochondrial protein complex (GO:0098798)	4.78	2	SDHD, SDHA
mitochondrial membrane part (GO:0044455)	4.54	2	SDHD, SDHA
mitochondrial inner membrane (GO:0005743)	3.65	2	SDHD, SDHA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
succinate dehydrogenase complex (ubiquinone) (GO:0045257)	-	8.42	0.0	SDHD, SDHA
fumarate reductase complex (GO:0045283)	-	8.42	0.0	SDHD, SDHA
succinate dehydrogenase complex (GO:0045281)	-	8.42	0.0	SDHD, SDHA
mitochondrial respiratory chain complex II (GO:0005749)	-	8.42	0.0	SDHD, SDHA
mitochondrial envelope (GO:0005740)	NEW	6.91	0.0	SDHD, SDHA
oxidoreductase complex (GO:1990204)	-	5.19	0.002	SDHD, SDHA
organelle envelope (GO:0031967)	NEW	4.63	0.027	SDHD, SDHA
envelope (GO:0031975)	NEW	4.62	0.027	SDHD, SDHA
mitochondrial membrane part (GO:0044455)	-	4.54	0.017	SDHD, SDHA
mitochondrial inner membrane (GO:0005743)	-	3.65	0.033	SDHD, SDHA

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