Disease table of MITOCHONDRIAL COMPLEX II DEFICIENCY OMIM ID: 252011

Gene-disease associations table

GeneAssociated with MITOCHONDRIAL COMPLEX II DEFICIENCY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SDHAOMIM, HUMSAVARHGNC link5p15.335252011, 604287, PS115200, PS168000, 256000
SDHAF1OMIM, HUMSAVARHGNC link19q13.121252011
SDHDOMIM, HUMSAVARHGNC link11q23.16252011, 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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SDHASDHDYesbinding2SDHC, SDHB

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
Gene1Gene2Direct interactionMore information
SDHASDHDyes, complexComponent 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]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Oxidative phosphorylationhsa001905.692SDHD, SDHA
Metabolic pathwayshsa011002.492SDHD, SDHA
Carbon metabolismhsa012006.032SDHD, SDHA
Citrate cycle (TCA cycle)hsa000207.862SDHD, SDHA
Non-alcoholic fatty liver disease (NAFLD)hsa049325.512SDHD, SDHA
Huntington's diseasehsa050165.172SDHD, SDHA
Alzheimer's diseasehsa050105.342SDHD, SDHA
Parkinson's diseasehsa050125.592SDHD, SDHA

NET-GE enrichment

Term New enriched termICP valueGenes
Neurodegenerative diseasesNEW4.270.043SDHD, SDHA
Endocrine and metabolic diseasesNEW4.750.022SDHD, SDHA
Oxidative phosphorylation (hsa00190) -5.690.006SDHD, SDHA
Parkinson's disease (hsa05012) -5.590.007SDHD, SDHA
Energy metabolismNEW5.420.01SDHD, SDHA
Carbohydrate metabolismNEW4.360.038SDHD, SDHA
Carbon metabolism (hsa01200) -6.030.004SDHD, SDHA
Non-alcoholic fatty liver disease (NAFLD) (hsa04932) -5.510.018SDHD, SDHA
Huntington's disease (hsa05016) -5.170.012SDHD, SDHA
Alzheimer's disease (hsa05010) -5.340.01SDHD, SDHA
Citrate cycle (TCA cycle) (hsa00020) -7.860.0SDHD, SDHA
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Respiratory electron transportR-HSA-6111056.442SDHD, SDHA
Pyruvate metabolism and Citric Acid (TCA) cycleR-HSA-714067.562SDHD, SDHA
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.122SDHD, SDHA
Citric acid cycle (TCA cycle)R-HSA-714038.732SDHD, SDHA
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.712SDHD, SDHA
MetabolismR-HSA-14307282.342SDHD, SDHA

NET-GE enrichment

Term New enriched termICP valueGenes
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517) -5.710.007SDHD, SDHA
Respiratory electron transport (R-HSA-611105) -6.440.001SDHD, SDHA
Pyruvate metabolism and Citric Acid (TCA) cycle (R-HSA-71406) -7.560.0SDHD, SDHA
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200) -6.120.003SDHD, SDHA
Citric acid cycle (TCA cycle) (R-HSA-71403) -8.730.0SDHD, SDHA
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organic cyclic compound binding (GO:0097159) 1.052SDHD, SDHA
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) 5.662SDHD, SDHA
catalytic activity (GO:0003824) 1.052SDHD, SDHA
cofactor binding (GO:0048037) 4.162SDHD, SDHA
binding (GO:0005488) 0.182SDHD, SDHA
succinate dehydrogenase activity (GO:0000104) 8.132SDHD, SDHA
heterocyclic compound binding (GO:1901363) 1.062SDHD, SDHA
oxidoreductase activity (GO:0016491) 3.122SDHD, SDHA

NET-GE enrichment

Term New enriched termICP valueGenes
tetrapyrrole binding (GO:0046906) NEW4.80.011SDHD, SDHA
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) -5.660.0SDHD, SDHA
cofactor binding (GO:0048037) -4.160.007SDHD, SDHA
succinate dehydrogenase activity (GO:0000104) -8.130.0SDHD, SDHA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.263SDHD, SDHAF1, SDHA
primary metabolic process (GO:0044238) 0.692SDHD, SDHA
single-organism metabolic process (GO:0044710) 1.632SDHD, SDHA
organic acid metabolic process (GO:0006082) 3.012SDHD, SDHA
oxidation-reduction process (GO:0055114) 2.912SDHD, SDHA
cellular metabolic process (GO:0044237) 0.692SDHD, SDHA
organic substance metabolic process (GO:0071704) 0.632SDHD, SDHA
tricarboxylic acid cycle (GO:0006099) 6.332SDHD, SDHA
single-organism cellular process (GO:0044763) 0.652SDHD, SDHA
small molecule metabolic process (GO:0044281) 2.382SDHD, SDHA
metabolic process (GO:0008152) 0.582SDHD, SDHA
single-organism process (GO:0044699) 0.482SDHD, SDHA

NET-GE enrichment

Term New enriched termICP valueGenes
tricarboxylic acid cycle (GO:0006099) -6.330.0SDHD, SDHA
electron transport chain (GO:0022900) NEW5.090.005SDHD, SDHA
respiratory electron transport chain (GO:0022904) NEW5.110.01SDHD, SDHA
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63SDHD, SDHAF1, SDHA
cell part (GO:0044464) 0.113SDHD, SDHAF1, SDHA
cytoplasmic part (GO:0044444) 0.823SDHD, SDHAF1, SDHA
mitochondrion (GO:0005739) 2.423SDHD, SDHAF1, SDHA
intracellular organelle part (GO:0044446) 0.813SDHD, SDHAF1, SDHA
intracellular organelle (GO:0043229) 0.513SDHD, SDHAF1, SDHA
mitochondrial part (GO:0044429) 2.923SDHD, SDHAF1, SDHA
intracellular part (GO:0044424) 0.283SDHD, SDHAF1, SDHA
membrane-bounded organelle (GO:0043227) 0.473SDHD, SDHAF1, SDHA
organelle (GO:0043226) 0.43SDHD, SDHAF1, SDHA
organelle part (GO:0044422) 0.793SDHD, SDHAF1, SDHA
protein complex (GO:0043234) 1.512SDHD, SDHA
succinate dehydrogenase complex (ubiquinone) (GO:0045257) 8.422SDHD, SDHA
macromolecular complex (GO:0032991) 1.352SDHD, SDHA
organelle membrane (GO:0031090) 1.972SDHD, SDHA
mitochondrial inner membrane (GO:0005743) 3.652SDHD, SDHA
fumarate reductase complex (GO:0045283) 8.422SDHD, SDHA
oxidoreductase complex (GO:1990204) 5.192SDHD, SDHA
membrane (GO:0016020) 0.682SDHD, SDHA
organelle inner membrane (GO:0019866) 3.562SDHD, SDHA
succinate dehydrogenase complex (GO:0045281) 8.422SDHD, SDHA
inner mitochondrial membrane protein complex (GO:0098800) 5.012SDHD, SDHA
mitochondrial membrane part (GO:0044455) 4.542SDHD, SDHA
membrane protein complex (GO:0098796) 2.842SDHD, SDHA
mitochondrial protein complex (GO:0098798) 4.782SDHD, SDHA
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) (GO:0005749) 8.422SDHD, SDHA
membrane part (GO:0044425) 0.952SDHD, SDHA
respiratory chain complex (GO:0098803) 5.472SDHD, SDHA
mitochondrial membrane (GO:0031966) 3.312SDHD, SDHA
catalytic complex (GO:1902494) 2.92SDHD, SDHA

NET-GE enrichment

Term New enriched termICP valueGenes
succinate dehydrogenase complex (ubiquinone) (GO:0045257) -8.420.0SDHD, SDHA
envelope (GO:0031975) NEW4.620.027SDHD, SDHA
fumarate reductase complex (GO:0045283) -8.420.0SDHD, SDHA
organelle inner membrane (GO:0019866) -3.560.04SDHD, SDHA
succinate dehydrogenase complex (GO:0045281) -8.420.0SDHD, SDHA
oxidoreductase complex (GO:1990204) -5.190.002SDHD, SDHA
mitochondrial membrane part (GO:0044455) -4.540.017SDHD, SDHA
mitochondrial inner membrane (GO:0005743) -3.650.033SDHD, SDHA
mitochondrial envelope (GO:0005740) NEW6.910.0SDHD, SDHA
mitochondrion (GO:0005739) -2.420.01SDHD, SDHAF1, SDHA
organelle envelope (GO:0031967) NEW4.630.027SDHD, SDHA
mitochondrial respiratory chain complex II (GO:0005749) -8.420.0SDHD, SDHA
mitochondrial part (GO:0044429) -2.920.035SDHD, SDHAF1, SDHA