hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_04643.1
Confidence: Extremely High
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| NDUFAF3 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 | 5 | UniProt NCBI |
| NDUFS2 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (EC 7.1.1.2) (Complex I-49kD) (CI-49kD) (NADH-ubiquinone oxidoreductase 49 kDa subunit) | 5 | UniProt NCBI |
| NDUFB5 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial (Complex I-SGDH) (CI-SGDH) (NADH-ubiquinone oxidoreductase SGDH subunit) | 5 | UniProt NCBI |
| NDUFAF4 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (Hormone-regulated proliferation-associated protein of 20 kDa) | 5 | UniProt NCBI |
| NDUFA13 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 (Cell death regulatory protein GRIM-19) (Complex I-B16.6) (CI-B16.6) (Gene associated with retinoic and interferon-induced mortality 19 protein) (GRIM-19) (Gene associated with retinoic and IFN-induced mortality 19 protein) (NADH-ubiquinone oxidoreductase B16.6 subunit) | 5 | UniProt NCBI |
| NDUFB1 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 (Complex I-MNLL) (CI-MNLL) (NADH-ubiquinone oxidoreductase MNLL subunit) | 5 | UniProt NCBI |
| MT-ND4 | NADH-ubiquinone oxidoreductase chain 4 (EC 7.1.1.2) (NADH dehydrogenase subunit 4) | 5 | UniProt NCBI |
| NDUFS3 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial (EC 7.1.1.2) (Complex I-30kD) (CI-30kD) (NADH-ubiquinone oxidoreductase 30 kDa subunit) | 5 | UniProt NCBI |
| NDUFC2 | NADH dehydrogenase [ubiquinone] 1 subunit C2 (Complex I-B14.5b) (CI-B14.5b) (Human lung cancer oncogene 1 protein) (HLC-1) (NADH-ubiquinone oxidoreductase subunit B14.5b) | 5 | UniProt NCBI |
| ACAD9 | Complex I assembly factor ACAD9, mitochondrial (Acyl-CoA dehydrogenase family member 9) (ACAD-9) (EC 1.3.8.-) | 5 | UniProt NCBI |
| NDUFS7 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (EC 7.1.1.2) (Complex I-20kD) (CI-20kD) (NADH-ubiquinone oxidoreductase 20 kDa subunit) (PSST subunit) | 5 | UniProt NCBI |
| TMEM126B | Complex I assembly factor TMEM126B, mitochondrial (Transmembrane protein 126B) | 5 | UniProt NCBI |
| ECSIT | Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial (Protein SITPEC) | 5 | UniProt NCBI |
| NDUFAF1 | Complex I intermediate-associated protein 30, mitochondrial (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1) | 5 | UniProt NCBI |
| COA1 | Cytochrome c oxidase assembly factor 1 homolog (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa) | 4 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| REAC:R-HSA-6799198 | 2.93398435554e-35 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | Complex I biogenesis |
| GO:0032981 | 1.1816037883e-32 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrial respiratory chain complex I assembly |
| GO:0010257 | 1.1816037883e-32 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | NADH dehydrogenase complex assembly |
| WP:WP4324 | 3.12955302906e-32 | 0.933333333333 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 NDUFB5 TMEM126B | Mitochondrial complex I assembly model OXPHOS system |
| REAC:R-HSA-611105 | 2.86425775601e-31 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | Respiratory electron transport |
| REAC:R-HSA-163200 | 7.18258384204e-30 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
| GO:0033108 | 1.45531784464e-29 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrial respiratory chain complex assembly |
| REAC:R-HSA-1428517 | 1.40539819328e-27 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | The citric acid (TCA) cycle and respiratory electron transport |
| GO:0007005 | 8.44192959441e-20 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrion organization |
| GO:0005743 | 1.06785021112e-19 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrial inner membrane |
| GO:0019866 | 2.5444563361e-19 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | organelle inner membrane |
| KEGG:04714 | 1.04929979982e-18 | 0.8 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 NDUFB5 | Thermogenesis |
| GO:0031966 | 1.78607670891e-17 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrial membrane |
| GO:0005740 | 4.80118057152e-17 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrial envelope |
| HP:0011923 | 1.35522976515e-16 | 0.666666666667 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B NDUFS7 | Decreased activity of mitochondrial complex I |
| HP:0001138 | 2.89929280705e-16 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Optic neuropathy |
| HP:0003287 | 7.68907948923e-16 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of mitochondrial metabolism |
| HP:0012103 | 3.26814555603e-15 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the mitochondrion |
| HP:0008972 | 5.97239281888e-15 | 0.666666666667 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B NDUFS7 | Decreased activity of mitochondrial respiratory chain |
| GO:0005747 | 6.05736039226e-15 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | mitochondrial respiratory chain complex I |
| GO:0030964 | 6.05736039226e-15 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | NADH dehydrogenase complex |
| GO:0045271 | 6.05736039226e-15 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | respiratory chain complex I |
| HP:0011922 | 8.20556691078e-15 | 0.666666666667 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B NDUFS7 | Abnormal activity of mitochondrial respiratory chain |
| HP:0008316 | 8.42500061809e-15 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal mitochondria in muscle tissue |
| HP:0000114 | 4.29146842876e-14 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Proximal tubulopathy |
| GO:0031967 | 4.48077022369e-14 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | organelle envelope |
| GO:0031975 | 4.48077022369e-14 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | envelope |
| HP:0000817 | 6.85379343602e-14 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B | Reduced eye contact |
| HP:0034435 | 6.85379343602e-14 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B | Abnormal eye contact |
| HP:0000758 | 1.22297070422e-13 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B | Abnormal nonverbal communicative behavior |
| HP:0003737 | 1.41570719955e-13 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Mitochondrial myopathy |
| CORUM:178 | 3.50610173841e-13 | 0.466666666667 | NDUFA13 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFB1 NDUFB5 | Respiratory chain complex I (holoenzyme), mitochondrial |
| GO:0098803 | 6.00099282555e-13 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | respiratory chain complex |
| HP:0012748 | 1.06902864087e-12 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Focal T2 hyperintense brainstem lesion |
| GO:0070469 | 1.19784417826e-12 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | respirasome |
| GO:0005746 | 1.19784417826e-12 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | mitochondrial respirasome |
| GO:0006120 | 1.32489606048e-12 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | mitochondrial electron transport, NADH to ubiquinone |
| GO:0065003 | 2.0080393621e-12 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | protein-containing complex assembly |
| HP:0007704 | 2.08590071513e-12 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Paroxysmal involuntary eye movements |
| WP:WP111 | 2.1012854693e-12 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Electron transport chain OXPHOS system in mitochondria |
| HP:0001941 | 2.20483629723e-12 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Acidosis |
| HP:0012747 | 3.83782490941e-12 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormal brainstem MRI signal intensity |
| HP:0003800 | 3.90058791038e-12 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Muscle abnormality related to mitochondrial dysfunction |
| HP:0004360 | 4.27133672004e-12 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of acid-base homeostasis |
| REAC:R-HSA-1430728 | 5.11144325217e-12 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | Metabolism |
| KEGG:04723 | 5.32512123375e-12 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Retrograde endocannabinoid signaling |
| GO:0005739 | 6.42115044702e-12 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | mitochondrion |
| KEGG:00190 | 6.52974159613e-12 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Oxidative phosphorylation |
| WP:WP623 | 8.4309135032e-12 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | Oxidative phosphorylation |
| GO:1990204 | 1.58256027374e-11 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | oxidoreductase complex |
| HP:0000124 | 1.62513363576e-11 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Renal tubular dysfunction |
| HP:0002490 | 1.93057847814e-11 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Increased CSF lactate |
| HP:0030085 | 1.93057847814e-11 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal CSF lactate concentration |
| GO:0042776 | 2.36223878099e-11 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | proton motive force-driven mitochondrial ATP synthesis |
| HP:0003128 | 2.38731325476e-11 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Lactic acidosis |
| GO:0006119 | 2.56942045323e-11 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | oxidative phosphorylation |
| HP:0004366 | 3.31739208642e-11 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormality of glycolysis |
| HP:0003542 | 3.31739208642e-11 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Increased serum pyruvate |
| GO:0015986 | 5.74085709156e-11 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | proton motive force-driven ATP synthesis |
| HP:0002151 | 6.05625685455e-11 | 0.6 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 TMEM126B MT-ND4 NDUFAF4 | Increased serum lactate |
| HP:0025116 | 7.43420771666e-11 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Fetal distress |
| HP:0000543 | 8.71950218109e-11 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B | Optic disc pallor |
| GO:0019646 | 1.14372394193e-10 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | aerobic electron transport chain |
| KEGG:05415 | 1.68820719452e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Diabetic cardiomyopathy |
| HP:0011017 | 1.86078279285e-10 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal cellular physiology |
| GO:0098800 | 1.95609780466e-10 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | inner mitochondrial membrane protein complex |
| GO:0008137 | 2.0923542147e-10 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | NADH dehydrogenase (ubiquinone) activity |
| HP:0011013 | 2.14093441368e-10 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormal circulating carbohydrate concentration |
| GO:0042773 | 2.15633028929e-10 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | ATP synthesis coupled electron transport |
| GO:0042775 | 2.15633028929e-10 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | mitochondrial ATP synthesis coupled electron transport |
| GO:0006754 | 2.15633028929e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ATP biosynthetic process |
| GO:0009060 | 2.21499068721e-10 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | aerobic respiration |
| GO:0050136 | 2.5219218378e-10 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | NADH dehydrogenase (quinone) activity |
| HP:0025454 | 2.57721706252e-10 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal CSF metabolite concentration |
| GO:0009206 | 2.63527639497e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine ribonucleoside triphosphate biosynthetic process |
| GO:0009145 | 2.63527639497e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine nucleoside triphosphate biosynthetic process |
| GO:0003954 | 3.02485340266e-10 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | NADH dehydrogenase activity |
| HP:0025354 | 3.07241087658e-10 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal cellular phenotype |
| GO:0043933 | 3.13539801742e-10 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | protein-containing complex organization |
| KEGG:05208 | 3.91488960346e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Chemical carcinogenesis - reactive oxygen species |
| GO:0009201 | 4.26009011689e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ribonucleoside triphosphate biosynthetic process |
| GO:0003955 | 4.29243900252e-10 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | NAD(P)H dehydrogenase (quinone) activity |
| GO:0022904 | 5.12199278086e-10 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | respiratory electron transport chain |
| GO:0009142 | 5.60740077061e-10 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleoside triphosphate biosynthetic process |
| HP:0001639 | 6.15404044884e-10 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Hypertrophic cardiomyopathy |
| GO:0045333 | 7.03584696304e-10 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | cellular respiration |
| GO:0022900 | 1.02826580484e-09 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | electron transport chain |
| HP:0001298 | 1.39621632062e-09 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Encephalopathy |
| KEGG:05012 | 1.46252167879e-09 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Parkinson disease |
| KEGG:05020 | 1.84498840046e-09 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Prion disease |
| KEGG:04932 | 2.0817171294e-09 | 0.466666666667 | NDUFA13 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFB1 NDUFB5 | Non-alcoholic fatty liver disease |
| HP:0002415 | 2.4873804543e-09 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Leukodystrophy |
| GO:0016655 | 2.58286646998e-09 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor |
| GO:0015453 | 3.3453934725e-09 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | oxidoreduction-driven active transmembrane transporter activity |
| WP:WP4396 | 3.66082832151e-09 | 0.466666666667 | NDUFA13 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFB1 NDUFB5 | Nonalcoholic fatty liver disease |
| KEGG:05016 | 4.13424654545e-09 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Huntington disease |
| GO:0015980 | 8.81855156112e-09 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | energy derivation by oxidation of organic compounds |
| HP:0002421 | 1.0430463902e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 NDUFAF4 TMEM126B | Poor head control |
| HP:0002352 | 1.08368454163e-08 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 NDUFAF4 TMEM126B | Leukoencephalopathy |
| HP:0001943 | 1.63053789286e-08 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 NDUFAF4 TMEM126B ACAD9 | Hypoglycemia |
| KEGG:05014 | 1.71593230881e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Amyotrophic lateral sclerosis |
| GO:0016651 | 1.98692368604e-08 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | oxidoreductase activity, acting on NAD(P)H |
| GO:1902495 | 1.99493921971e-08 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | transmembrane transporter complex |
| GO:0022607 | 2.30927020996e-08 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | cellular component assembly |
| KEGG:05010 | 2.51622386682e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Alzheimer disease |
| GO:1990351 | 4.0697118615e-08 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | transporter complex |
| CORUM:2942 | 4.24607948444e-08 | 0.2 | ECSIT NDUFS3 NDUFAF1 | Ecsit complex (ECSIT, NDUFS3, NDUFAF1) |
| GO:0009152 | 4.47459741799e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine ribonucleotide biosynthetic process |
| CORUM:2914 | 6.3007284082e-08 | 0.266666666667 | NDUFB1 NDUFC2 NDUFB5 MT-ND4 | Respiratory chain complex I (beta subunit) mitochondrial |
| CORUM:2920 | 6.3007284082e-08 | 0.266666666667 | NDUFS2 NDUFS7 NDUFS3 NDUFA13 | Respiratory chain complex I (lambda subunit) mitochondrial |
| GO:0046034 | 6.69593831486e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ATP metabolic process |
| GO:0009260 | 7.03194975452e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ribonucleotide biosynthetic process |
| HP:0012795 | 7.71539247286e-08 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal optic disc morphology |
| GO:0098798 | 8.12386380981e-08 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | mitochondrial protein-containing complex |
| HP:0011015 | 8.29775514749e-08 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 NDUFAF4 TMEM126B ACAD9 | Abnormal blood glucose concentration |
| GO:0044085 | 9.18452249905e-08 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | cellular component biogenesis |
| GO:0046390 | 9.37458184266e-08 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ribose phosphate biosynthetic process |
| GO:0009205 | 1.18204181911e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine ribonucleoside triphosphate metabolic process |
| KEGG:05022 | 1.19513877593e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Pathways of neurodegeneration - multiple diseases |
| GO:0009144 | 1.29445574059e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine nucleoside triphosphate metabolic process |
| GO:0031090 | 1.31194389021e-07 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | organelle membrane |
| GO:0009055 | 1.40274490807e-07 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | electron transfer activity |
| GO:0009199 | 1.54757432102e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ribonucleoside triphosphate metabolic process |
| HP:0002013 | 1.5856644224e-07 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Vomiting |
| GO:0006164 | 1.84284614427e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine nucleotide biosynthetic process |
| GO:0009141 | 2.0954585523e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleoside triphosphate metabolic process |
| HP:0001638 | 2.19107329745e-07 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Cardiomyopathy |
| GO:0072522 | 2.2801889955e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine-containing compound biosynthetic process |
| HP:0000587 | 2.83827703386e-07 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal optic nerve morphology |
| HP:0001637 | 3.30133920844e-07 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal myocardium morphology |
| GO:0006091 | 3.57567815162e-07 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | generation of precursor metabolites and energy |
| GO:0009165 | 4.34582545264e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleotide biosynthetic process |
| GO:1901293 | 5.06563520671e-07 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleoside phosphate biosynthetic process |
| HP:0032180 | 5.92680066816e-07 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal circulating metabolite concentration |
| HP:0001254 | 6.05811902355e-07 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Lethargy |
| GO:0006996 | 6.39532201607e-07 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | organelle organization |
| GO:0015399 | 1.01686619431e-06 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | primary active transmembrane transporter activity |
| HP:0011014 | 1.04751244001e-06 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal glucose homeostasis |
| HP:0000819 | 1.31260618289e-06 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Diabetes mellitus |
| CORUM:2884 | 1.48246971075e-06 | 0.2 | NDUFAF1 NDUFS3 NDUFS7 | Respiratory chain complex I (early intermediate NDUFAF1 assembly), mitochondrial |
| HP:0001952 | 1.54428600787e-06 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Glucose intolerance |
| HP:0001324 | 1.7784683832e-06 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Muscle weakness |
| HP:0002363 | 2.24084591691e-06 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormal brainstem morphology |
| HP:0001508 | 2.47874447486e-06 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Failure to thrive |
| HP:0034059 | 2.50730204675e-06 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormal fetal physiology |
| HP:0000618 | 3.7608301882e-06 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Blindness |
| CORUM:2904 | 5.07336654529e-06 | 0.2 | NDUFS2 NDUFS3 NDUFS7 | Respiratory chain complex I (intermediate VII/650kD), mitochondrial |
| HP:0002017 | 6.42917118867e-06 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Nausea and vomiting |
| CORUM:2905 | 6.97158192218e-06 | 0.2 | NDUFS2 NDUFS3 NDUFS7 | Respiratory chain complex I (intermediate), mitochondrial |
| HP:0012337 | 9.13688573525e-06 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal homeostasis |
| HP:0410042 | 9.2355794224e-06 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal liver morphology |
| GO:0009150 | 1.17285878018e-05 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine ribonucleotide metabolic process |
| GO:0009259 | 1.50487263483e-05 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ribonucleotide metabolic process |
| HP:0002921 | 1.52804463159e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal cerebrospinal fluid morphology |
| HP:0012447 | 1.95946765745e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal myelination |
| GO:0019693 | 2.00887852678e-05 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | ribose phosphate metabolic process |
| HP:0000745 | 2.07510581422e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Diminished motivation |
| HP:0002240 | 2.10492313629e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Hepatomegaly |
| HP:0001098 | 2.2226669203e-05 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal fundus morphology |
| HP:5200275 | 2.29175066676e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal motivation |
| HP:0004329 | 2.31677647273e-05 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal posterior eye segment morphology |
| HP:0001252 | 2.33689995876e-05 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Hypotonia |
| HP:0011400 | 3.25351332521e-05 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormal CNS myelination |
| HP:0012211 | 3.79407130491e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal renal physiology |
| HP:0001251 | 4.67787937837e-05 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Ataxia |
| GO:0006163 | 5.43852315091e-05 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine nucleotide metabolic process |
| HP:0003271 | 5.7897684025e-05 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Visceromegaly |
| HP:0011277 | 6.0538256864e-05 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the urinary system physiology |
| HP:0001392 | 6.22672650854e-05 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the liver |
| HP:0001627 | 6.8977810929e-05 | 0.666666666667 | NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal heart morphology |
| GO:0072521 | 7.52806043381e-05 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | purine-containing compound metabolic process |
| HP:0004325 | 8.09619027245e-05 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Decreased body weight |
| HPA:0540053 | 0.000112363446918 | 0.733333333333 | NDUFA13 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFAF1 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | stomach 1; glandular cells[High] |
| HP:0001438 | 0.000112751784075 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal abdomen morphology |
| GO:0009117 | 0.000113071324859 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleotide metabolic process |
| GO:0006753 | 0.000126517081907 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleoside phosphate metabolic process |
| HPA:0030053 | 0.000126932961382 | 0.666666666667 | NDUFA13 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFAF1 COA1 NDUFAF3 NDUFB1 NDUFB5 | appendix; glandular cells[High] |
| HP:0011443 | 0.000130936732006 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of coordination |
| HP:0003808 | 0.000140140815595 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal muscle tone |
| CORUM:2898 | 0.000143102677271 | 0.133333333333 | NDUFS2 NDUFS3 | Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial |
| CORUM:2938 | 0.000143102677271 | 0.133333333333 | ECSIT NDUFS3 | Ecsit complex (ECSIT, NDUFS3, TOM20) |
| GO:0090407 | 0.000143941271808 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | organophosphate biosynthetic process |
| WP:WP5183 | 0.000194179523094 | 0.2 | ECSIT ACAD9 NDUFAF1 | SARS CoV 2 mitochondrial chronic oxidative stress and endothelial dysfunction |
| GO:0022804 | 0.000213441158124 | 0.466666666667 | NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 | active transmembrane transporter activity |
| HP:0034057 | 0.000215123316246 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Fetal anomaly |
| HPA:0150053 | 0.000232352355061 | 0.733333333333 | NDUFA13 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFAF1 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | duodenum; glandular cells[High] |
| HP:0034434 | 0.000255861725492 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal communication |
| HP:0007663 | 0.000258325476441 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Reduced visual acuity |
| CORUM:2901 | 0.000286035615974 | 0.133333333333 | NDUFS2 NDUFS3 | Respiratory chain complex I (intermediate IV/310kD), mitochondrial |
| HP:0000407 | 0.00030019295279 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Sensorineural hearing impairment |
| HP:0002012 | 0.000324252900805 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the abdominal organs |
| GO:0055086 | 0.00032484448735 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | nucleobase-containing small molecule metabolic process |
| HPA:0360053 | 0.000348427490789 | 0.6 | NDUFA13 ACAD9 ECSIT NDUFB1 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFB5 | parathyroid gland; glandular cells[High] |
| WP:WP5038 | 0.000349480667591 | 0.2 | ECSIT ACAD9 NDUFAF1 | Mitochondrial immune response to SARS CoV 2 |
| GO:1901137 | 0.000388338382573 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | carbohydrate derivative biosynthetic process |
| HP:0003348 | 0.000402445437181 | 0.266666666667 | NDUFA13 TMEM126B NDUFC2 MT-ND4 | Hyperalaninemia |
| HP:0004323 | 0.000419485852382 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of body weight |
| HP:0010916 | 0.00042994072155 | 0.266666666667 | NDUFA13 TMEM126B NDUFC2 MT-ND4 | Abnormal circulating alanine concentration |
| HP:0010915 | 0.00042994072155 | 0.266666666667 | NDUFA13 TMEM126B NDUFC2 MT-ND4 | Abnormal circulating pyruvate family amino acid concentration |
| HPA:0241103 | 0.00045304115168 | 0.533333333333 | NDUFA13 ECSIT NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 NDUFB1 NDUFB5 | heart muscle; cardiomyocytes[High] |
| HP:0001511 | 0.000463148271283 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Intrauterine growth retardation |
| CORUM:2903 | 0.000476443303259 | 0.133333333333 | NDUFS2 NDUFS3 | Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial |
| CORUM:2936 | 0.000476443303259 | 0.133333333333 | ECSIT NDUFAF1 | Ecsit complex (ECSIT, MT-CO2, GAPDH, TRAF6, NDUFAF1) |
| HP:0002093 | 0.000505866301527 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Respiratory insufficiency |
| HP:0011805 | 0.000507427601372 | 0.666666666667 | NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal skeletal muscle morphology |
| HP:0001939 | 0.000582638899214 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of metabolism/homeostasis |
| WP:000000 | 0.000585582289992 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | WIKIPATHWAYS |
| WP:000000 | 0.000585582289992 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | WIKIPATHWAYS |
| HP:0030680 | 0.000597410142185 | 0.666666666667 | NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal cardiovascular system morphology |
| HPA:0090182 | 0.000632424801077 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFAF3 NDUFB1 COA1 | cerebellum; cells in granular layer[>=Medium] |
| HP:0011804 | 0.000650823164218 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal muscle physiology |
| HP:0011389 | 0.000693230275417 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Functional abnormality of the inner ear |
| CORUM:2939 | 0.000714241131056 | 0.133333333333 | ECSIT NDUFAF1 | Ecsit complex (ECSIT, MT-CO2, NDUFA1, MT-ND1, TRAF6, NDUFAF1) |
| HP:0033108 | 0.000744798354237 | 0.266666666667 | NDUFA13 TMEM126B NDUFC2 MT-ND4 | Abnormal circulating proteinogenic amino acid derivative concentration |
| KEGG:01100 | 0.000782615522733 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | Metabolic pathways |
| HP:0001263 | 0.000789370921001 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Global developmental delay |
| HP:0011442 | 0.000839322649599 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal central motor function |
| HP:0012443 | 0.000863617340556 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal brain morphology |
| GO:0016491 | 0.000881760445855 | 0.533333333333 | ACAD9 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 NDUFB5 NDUFS7 | oxidoreductase activity |
| HP:0000639 | 0.00101431137071 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Nystagmus |
| HP:0000365 | 0.00112088057693 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Hearing impairment |
| HP:0012547 | 0.00114020844305 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal involuntary eye movements |
| GO:0016043 | 0.00122286486278 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | cellular component organization |
| HP:0000364 | 0.00129340324616 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Hearing abnormality |
| HPA:0550053 | 0.00135173851305 | 0.666666666667 | NDUFA13 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFAF1 MT-ND4 NDUFAF3 NDUFB1 COA1 | stomach 2; glandular cells[High] |
| HP:0002060 | 0.00140163883142 | 0.666666666667 | NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal cerebral morphology |
| HP:0000505 | 0.0015032899468 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Visual impairment |
| HP:0100547 | 0.00162128634641 | 0.666666666667 | NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal forebrain morphology |
| HP:0031704 | 0.00185262787764 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal ear physiology |
| HP:0002011 | 0.00185299338521 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Morphological central nervous system abnormality |
| HP:0000508 | 0.00185459350271 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Ptosis |
| HP:0007364 | 0.00201862672093 | 0.6 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Aplasia/Hypoplasia of the cerebrum |
| GO:0071840 | 0.00215631944361 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | cellular component organization or biogenesis |
| HP:0003011 | 0.00226228729626 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the musculature |
| HP:0012639 | 0.00253237398709 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal nervous system morphology |
| CORUM:2948 | 0.00261112839025 | 0.133333333333 | NDUFS2 NDUFS7 | Respiratory chain complex I (incomplete intermediate), mitochondrial |
| GO:0098796 | 0.00272422155888 | 0.6 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | membrane protein complex |
| HP:0004309 | 0.00280101747395 | 0.2 | NDUFS2 NDUFAF1 MT-ND4 | Ventricular preexcitation |
| HP:0025032 | 0.00316688204944 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of digestive system physiology |
| HPA:0241102 | 0.00384911606029 | 0.8 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | heart muscle; cardiomyocytes[>=Medium] |
| HPA:0090163 | 0.00385990040721 | 0.533333333333 | NDUFA13 ECSIT NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 NDUFB1 NDUFB5 | cerebellum; Purkinje cells[High] |
| HP:0000496 | 0.00410815299505 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of eye movement |
| HPA:0090191 | 0.00523474248585 | 0.8 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | cerebellum; cells in molecular layer[>=Low] |
| HP:0000504 | 0.00530407293402 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of vision |
| HP:0012372 | 0.00591983891612 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal eye morphology |
| HPA:0090181 | 0.00601748919261 | 0.8 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | cerebellum; cells in granular layer[>=Low] |
| HP:0012758 | 0.00607922406207 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Neurodevelopmental delay |
| HPA:0351182 | 0.00614861000625 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 NDUFAF3 MT-ND4 NDUFB5 | pancreas; pancreatic endocrine cells[>=Medium] |
| HP:0000818 | 0.00637796135762 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of the endocrine system |
| HP:0004354 | 0.0063884892455 | 0.333333333333 | NDUFA13 TMEM126B ACAD9 NDUFC2 MT-ND4 | Abnormal circulating carboxylic acid concentration |
| HP:0003198 | 0.00697750870307 | 0.333333333333 | NDUFS2 MT-ND4 NDUFAF1 ACAD9 NDUFAF4 | Myopathy |
| HPA:0471392 | 0.00716788961778 | 0.4 | NDUFA13 ACAD9 NDUFS2 NDUFAF3 NDUFB1 NDUFB5 | skin 2; cells in basal layer[>=Medium] |
| HP:0000252 | 0.00725445489315 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 NDUFAF4 TMEM126B | Microcephaly |
| HP:0040195 | 0.00777903543495 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 NDUFAF4 TMEM126B | Decreased head circumference |
| HP:0002977 | 0.00824727013106 | 0.6 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Aplasia/Hypoplasia involving the central nervous system |
| HP:0000077 | 0.008926176011 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of the kidney |
| HPA:0471461 | 0.00903399833952 | 0.4 | NDUFA13 ACAD9 NDUFS2 NDUFAF3 NDUFB1 NDUFB5 | skin 2; langerhans cells[>=Low] |
| HP:0001197 | 0.00939332581757 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormality of prenatal development or birth |
| GO:0019637 | 0.00954905946681 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | organophosphate metabolic process |
| HP:0002795 | 0.00955201697033 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormal respiratory system physiology |
| HP:0010935 | 0.0104656397411 | 0.533333333333 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of the upper urinary tract |
| HPA:0570733 | 0.0105219557628 | 0.533333333333 | ECSIT ACAD9 NDUFA13 NDUFS2 NDUFAF1 NDUFAF3 NDUFB1 COA1 | testis; Leydig cells[High] |
| HP:0001942 | 0.0112708127877 | 0.266666666667 | NDUFS2 NDUFAF1 NDUFS7 NDUFAF4 | Metabolic acidosis |
| HP:0000079 | 0.011288228484 | 0.6 | ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the urinary system |
| HP:0001507 | 0.0120888925789 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Growth abnormality |
| HP:0001626 | 0.0126927681326 | 0.666666666667 | NDUFAF1 ACAD9 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the cardiovascular system |
| HPA:0100211 | 0.0139575911238 | 0.8 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | cerebral cortex; neuropil[>=Low] |
| HP:0003112 | 0.0140413940495 | 0.266666666667 | NDUFA13 TMEM126B NDUFC2 MT-ND4 | Abnormal circulating amino acid concentration |
| HPA:0471411 | 0.0157733010979 | 0.4 | NDUFA13 ACAD9 NDUFS2 NDUFAF3 NDUFB1 NDUFB5 | skin 2; cells in spinous layer[>=Low] |
| GO:1901135 | 0.016127660532 | 0.533333333333 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 | carbohydrate derivative metabolic process |
| HP:0002086 | 0.0165955770931 | 0.6 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of the respiratory system |
| HPA:0461391 | 0.0174423432648 | 0.4 | NDUFA13 ACAD9 NDUFS2 NDUFAF3 NDUFB1 NDUFB5 | skin 1; cells in basal layer[>=Low] |
| HPA:0100212 | 0.0182052003769 | 0.6 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFB1 | cerebral cortex; neuropil[>=Medium] |
| HPA:0090162 | 0.0204498428405 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | cerebellum; Purkinje cells[>=Medium] |
| HP:0000007 | 0.0237771974468 | 0.666666666667 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 NDUFAF4 TMEM126B NDUFS7 | Autosomal recessive inheritance |
| HP:0012638 | 0.0254022015973 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormal nervous system physiology |
| HP:0025031 | 0.0259096022342 | 0.666666666667 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the digestive system |
| HP:0000486 | 0.0262893147816 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Strabismus |
| HP:0033127 | 0.0264907690395 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the musculoskeletal system |
| HPA:0250132 | 0.0274504003503 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 NDUFAF3 NDUFB1 NDUFB5 | hippocampus; neuronal cells[>=Medium] |
| HP:0000240 | 0.0275645607841 | 0.533333333333 | NDUFAF1 NDUFS7 NDUFS2 NDUFC2 NDUFS3 NDUFAF3 NDUFAF4 TMEM126B | Abnormality of skull size |
| HPA:0471391 | 0.0277112551692 | 0.4 | NDUFA13 ACAD9 NDUFS2 NDUFAF3 NDUFB1 NDUFB5 | skin 2; cells in basal layer[>=Low] |
| HP:0012759 | 0.0289421554704 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Neurodevelopmental abnormality |
| HP:0011968 | 0.0317999804903 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Feeding difficulties |
| HP:0000549 | 0.0326304982361 | 0.466666666667 | NDUFS7 NDUFS2 NDUFS3 NDUFAF1 TMEM126B NDUFAF4 NDUFAF3 | Abnormal conjugate eye movement |
| GO:0044281 | 0.0329829332234 | 0.6 | NDUFA13 ACAD9 NDUFS2 NDUFS3 NDUFC2 MT-ND4 NDUFB1 NDUFB5 NDUFS7 | small molecule metabolic process |
| HPA:0570732 | 0.035918679033 | 0.8 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFB5 | testis; Leydig cells[>=Medium] |
| GO:0016020 | 0.0378885221644 | 1.0 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFS2 NDUFS3 NDUFC2 COA1 MT-ND4 NDUFAF3 NDUFB1 NDUFAF4 TMEM126B NDUFB5 NDUFS7 | membrane |
| HPA:0470202 | 0.038425005308 | 0.333333333333 | NDUFS2 ACAD9 NDUFAF3 NDUFA13 NDUFB5 | skin 2; endothelial cells[>=Medium] |
| HP:0000478 | 0.0387384535254 | 0.666666666667 | NDUFA13 NDUFAF1 NDUFS7 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of the eye |
| HPA:0461392 | 0.0405608112603 | 0.333333333333 | NDUFS2 ACAD9 NDUFAF3 NDUFA13 NDUFB5 | skin 1; cells in basal layer[>=Medium] |
| HP:0002493 | 0.0409525529971 | 0.466666666667 | NDUFA13 NDUFS7 NDUFS2 NDUFC2 NDUFS3 MT-ND4 NDUFAF4 | Upper motor neuron dysfunction |
| HPA:0360052 | 0.0412465388516 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 ECSIT NDUFB1 NDUFS3 NDUFC2 COA1 NDUFAF3 MT-ND4 NDUFB5 | parathyroid gland; glandular cells[>=Medium] |
| HPA:0470672 | 0.0421413491005 | 0.333333333333 | NDUFS2 ACAD9 NDUFAF3 NDUFA13 NDUFB5 | skin 2; melanocytes[>=Medium] |
| HP:0000707 | 0.0425324064076 | 0.733333333333 | NDUFA13 NDUFAF1 ACAD9 NDUFS2 NDUFS3 NDUFC2 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B NDUFS7 | Abnormality of the nervous system |
| HP:0000598 | 0.0435384875539 | 0.6 | NDUFA13 NDUFS7 NDUFS2 NDUFS3 NDUFAF1 NDUFAF3 MT-ND4 NDUFAF4 TMEM126B | Abnormality of the ear |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD |
|---|---|---|---|
| NDUFS2 | NDUFS3 | 1.0 | 0.966 |
| NDUFAF4 | NDUFS3 | 1.0 | 0.144 |
| ECSIT | NDUFAF4 | 1.0 | 0.232 |
| ECSIT | ACAD9 | 1.0 | 0.224 |
| NDUFAF3 | NDUFAF4 | 0.999 | 0.692 |
| NDUFC2 | NDUFS7 | 0.999 | 0.636 |
| ACAD9 | NDUFAF1 | 0.999 | 0.398 |
| NDUFS2 | NDUFAF4 | 0.999 | 0.482 |
| ECSIT | NDUFAF1 | 0.999 | 0.568 |
| NDUFA13 | NDUFS3 | 0.999 | 0.97 |
| NDUFB5 | MT-ND4 | 0.999 | 0.828 |
| NDUFS2 | NDUFA13 | 0.999 | 0.93 |
| NDUFA13 | NDUFAF1 | 0.999 | 0.078 |
| NDUFS3 | NDUFS7 | 0.999 | 0.956 |
| NDUFAF4 | NDUFS7 | 0.999 | 0.242 |
| NDUFAF3 | NDUFS3 | 0.999 | 0.208 |
| NDUFS7 | NDUFAF1 | 0.999 | 0.194 |
| ECSIT | TMEM126B | 0.999 | 0.122 |
| NDUFB5 | NDUFB1 | 0.999 | 0.806 |
| NDUFB5 | NDUFS7 | 0.999 | 0.666 |
| ECSIT | NDUFB5 | 0.998 | 0.062 |
| ACAD9 | NDUFAF4 | 0.998 | 0.182 |
| NDUFA13 | TMEM126B | 0.998 | 0.096 |
| NDUFB5 | NDUFAF4 | 0.998 | 0.356 |
| NDUFS2 | NDUFB1 | 0.998 | 0.768 |
| NDUFA13 | NDUFB1 | 0.998 | 0.974 |
| NDUFAF4 | NDUFA13 | 0.998 | 0.158 |
| NDUFAF4 | NDUFAF1 | 0.998 | 0.268 |
| ECSIT | NDUFAF3 | 0.998 | 0.198 |
| NDUFB5 | NDUFAF1 | 0.998 | 0.33 |
| ACAD9 | NDUFS7 | 0.997 | 0.418 |
| NDUFAF3 | NDUFS7 | 0.997 | 0.054 |
| NDUFC2 | NDUFB5 | 0.997 | 0.886 |
| NDUFA13 | MT-ND4 | 0.997 | 0.942 |
| ECSIT | NDUFC2 | 0.997 | 0.108 |
| NDUFC2 | NDUFAF1 | 0.997 | 0.244 |
| NDUFAF4 | TMEM126B | 0.997 | 0.258 |
| ECSIT | NDUFS3 | 0.997 | 0.208 |
| ECSIT | NDUFB1 | 0.996 | 0.026 |
| ECSIT | NDUFS2 | 0.996 | 0.218 |
| NDUFC2 | NDUFA13 | 0.996 | 0.962 |
| ACAD9 | NDUFC2 | 0.995 | 0.202 |
| ACAD9 | NDUFS3 | 0.995 | 0.448 |
| ECSIT | NDUFS7 | 0.995 | 0.088 |
| NDUFAF3 | NDUFA13 | 0.995 | 0.07 |
| NDUFAF3 | NDUFB5 | 0.995 | 0.15 |
| ECSIT | COA1 | 0.995 | 0.286 |
| NDUFS7 | TMEM126B | 0.995 | 0.114 |
| NDUFC2 | NDUFB1 | 0.995 | 0.892 |
| NDUFS2 | NDUFS7 | 0.995 | 0.942 |
| NDUFA13 | NDUFS7 | 0.994 | 0.906 |
| ECSIT | MT-ND4 | 0.994 | 0.052 |
| NDUFC2 | TMEM126B | 0.994 | 0.088 |
| NDUFB1 | NDUFS3 | 0.994 | 0.892 |
| TMEM126B | NDUFAF1 | 0.993 | 0.234 |
| NDUFAF3 | NDUFAF1 | 0.993 | 0.212 |
| ACAD9 | NDUFB5 | 0.993 | 0.29 |
| NDUFC2 | NDUFS2 | 0.993 | 0.814 |
| NDUFS3 | NDUFAF1 | 0.993 | 0.398 |
| NDUFB5 | TMEM126B | 0.992 | 0.174 |
| ACAD9 | COA1 | 0.992 | 0.226 |
| NDUFC2 | MT-ND4 | 0.992 | 0.828 |
| NDUFAF4 | NDUFB1 | 0.992 | 0.076 |
| MT-ND4 | NDUFS7 | 0.991 | 0.638 |
| ECSIT | NDUFA13 | 0.99 | 0.086 |
| NDUFC2 | COA1 | 0.99 | 0.348 |
| NDUFAF3 | TMEM126B | 0.99 | 0.112 |
| NDUFAF3 | NDUFS2 | 0.99 | 0.188 |
| NDUFS2 | NDUFB5 | 0.988 | 0.874 |
| MT-ND4 | NDUFS3 | 0.988 | 0.764 |
| ACAD9 | NDUFA13 | 0.987 | 0.13 |
| ACAD9 | NDUFAF3 | 0.986 | 0.198 |
| NDUFAF4 | MT-ND4 | 0.986 | 0.044 |
| NDUFS3 | TMEM126B | 0.986 | 0.102 |
| NDUFB5 | NDUFA13 | 0.986 | 0.888 |
| NDUFB1 | NDUFS7 | 0.983 | 0.388 |
| NDUFC2 | NDUFS3 | 0.983 | 0.88 |
| ACAD9 | TMEM126B | 0.982 | 0.178 |
| NDUFC2 | NDUFAF3 | 0.982 | 0.178 |
| NDUFS2 | NDUFAF1 | 0.98 | 0.426 |
| NDUFC2 | NDUFAF4 | 0.98 | 0.134 |
| NDUFB1 | NDUFAF1 | 0.974 | 0.15 |
| NDUFB1 | TMEM126B | 0.973 | 0.046 |
| ACAD9 | NDUFB1 | 0.973 | 0.222 |
| MT-ND4 | TMEM126B | 0.972 | 0.072 |
| ACAD9 | NDUFS2 | 0.971 | 0.456 |
| NDUFB5 | NDUFS3 | 0.969 | 0.898 |
| NDUFB1 | MT-ND4 | 0.968 | 0.65 |
| NDUFAF3 | NDUFB1 | 0.966 | 0.184 |
| MT-ND4 | NDUFAF1 | 0.961 | 0.076 |
| NDUFAF1 | COA1 | 0.96 | 0.232 |
| NDUFS2 | MT-ND4 | 0.952 | 0.87 |
| NDUFS2 | TMEM126B | 0.925 | 0.16 |
| NDUFAF3 | MT-ND4 | 0.919 | 0.108 |
| ACAD9 | MT-ND4 | 0.898 | 0.174 |
| TMEM126B | COA1 | 0.736 | 0.254 |
| NDUFAF4 | COA1 | 0.73 | 0.344 |
| NDUFAF3 | COA1 | 0.688 | 0.364 |
| NDUFB5 | COA1 | 0.354 | 0.398 |
| NDUFB1 | COA1 | 0.343 | 0.17 |
| MT-ND4 | COA1 | 0.297 | 0.222 |
| NDUFS7 | COA1 | 0.275 | 0.448 |
| NDUFA13 | COA1 | 0.139 | 0.176 |
| NDUFS2 | COA1 | 0.136 | 0.322 |
| NDUFS3 | COA1 | 0.089 | 0.468 |
Related Complexes