Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 13

31 diseases · 64 shared-gene connections
31 Diseases
324 Unique genes
0.050 Avg. similarity score
Mitochondrial disease Most-connected disease (19 links)
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Disease Searched: Isolated complex i deficiency Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.
Isolated complex i deficiency Mitochondrial disease Leigh syndrome Mitochondrial complex deficiency Combined oxidative phosphorylation deficiency Mitochondrial encephalomyopathy

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Mitochondrial disease 19 19 249
Leigh syndrome 17 17 109
Mitochondrial complex deficiency 14 14 119
Combined oxidative phosphorylation deficiency 9 9 68
Mitochondrial encephalomyopathy 8 8 17
Cytochrome c oxidase deficiency 5 5 20
Isolated complex i deficiency 5 5 23
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 4 5
Failure to thrive, hyperlactatemia and hyperammonemia 3 3 1
Fatal encephalopathy, lactic acidosis, and severe mitochondrial dna depletion in muscle 3 3 1
Hurthle cell thyroid cancer 3 3 1
Mitochondrial complex i deficiency 3 3 1
Mitochondrial complex i deficiency, nuclear type 5 complex i (mitochondrial respiratory chain disorders (caused by nuclear variants only), oxphos structural subunits) 3 3 1
Progressive cavitating leukoencephalopathy 3 3 1
Spastic paraplegia 55, autosomal recessive 3 3 1
Codas syndrome 2 2 1
Early onset isolated mitochondrial complex i deficiency 2 2 1
Infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex i deficiency 2 2 1
Leigh syndrome, due to cox iv deficiency 2 2 1
Mitochondrial complex iii deficiency, cardiomyopathy, and alopecia totalis 2 2 1
Muscle weakness and isolated complex i deficiency 2 2 1
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 2 2 1
Pyruvate dehydrogenase e1-alpha deficiency 2 2 1
Sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies 2 2 1
Trna isopentenyltransferase deficiency 2 2 1
Ethylmalonic encephalopathy 1 1 1
Mitochondrial phosphate carrier deficiency 1 1 1
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 1 1 1
Myoclonus, familial, 1 1 1 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 1 1 1
Pyruvate dehydrogenase e1-beta deficiency 1 1 1

Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)

Gene ⇵ Member diseases ⇵ Linked diseases
SCO2 6 / 31 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency and 2 more
SURF1 6 / 31 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Leigh syndrome, Leigh syndrome, due to cox iv deficiency and 2 more
COX15 5 / 31 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency and 1 more
FOXRED1 5 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease and 1 more
MTRFR 5 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy and 1 more
NDUFS1 5 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial complex i deficiency, nuclear type 5 complex i (mitochondrial respiratory chain disorders (caused by nuclear variants only), oxphos structural subunits) and 1 more
NDUFS2 5 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease and 1 more
NDUFV2 5 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy and 1 more
ATP5F1A 4 / 31 Combined oxidative phosphorylation deficiency, Failure to thrive, hyperlactatemia and hyperammonemia, Mitochondrial complex deficiency, Mitochondrial disease
COA5 4 / 31 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COA6 4 / 31 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX10 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
COX4I1 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
COX8A 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
FARS2 4 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
FASTKD2 4 / 31 Combined oxidative phosphorylation deficiency, Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
FBXL4 4 / 31 Fatal encephalopathy, lactic acidosis, and severe mitochondrial dna depletion in muscle, Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
LRPPRC 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA1 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA10 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA12 4 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial complex i deficiency, Mitochondrial disease
NDUFA13 4 / 31 Hurthle cell thyroid cancer, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA2 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA9 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF2 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF3 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF4 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF5 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF6 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS3 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS4 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS7 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS8 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFV1 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NUBPL 4 / 31 Isolated complex i deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
PET100 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
PET117 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
SCO1 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TACO1 4 / 31 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
ATP5MK 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
ATP6 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
BCS1L 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
COA3 3 / 31 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX14 3 / 31 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX20 3 / 31 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX5A 3 / 31 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX6A2 3 / 31 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX6B1 3 / 31 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COXFA4 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
CYTB 3 / 31 Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
DNM1L 3 / 31 Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
EARS2 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
ELAC2 3 / 31 Combined oxidative phosphorylation deficiency, Infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex i deficiency, Mitochondrial disease
GFM2 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
GTPBP3 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
LONP1 3 / 31 Codas syndrome, Leigh syndrome, Mitochondrial encephalomyopathy
MRPS2 3 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease, Sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies
MRPS25 3 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
MRPS34 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
MTFMT 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial complex deficiency
NARS2 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
ND2 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
ND3 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
ND5 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA11 3 / 31 Isolated complex i deficiency, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA6 3 / 31 Early onset isolated mitochondrial complex i deficiency, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF1 3 / 31 Isolated complex i deficiency, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF8 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFB8 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFB9 3 / 31 Isolated complex i deficiency, Mitochondrial complex deficiency, Mitochondrial disease
NDUFC2 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS6 3 / 31 Isolated complex i deficiency, Mitochondrial complex deficiency, Mitochondrial disease
PDHA1 3 / 31 Leigh syndrome, Mitochondrial disease, Pyruvate dehydrogenase e1-alpha deficiency
POLG 3 / 31 Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
SDHA 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
SDHAF1 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TARS2 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
TIMMDC1 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TMEM126B 3 / 31 Mitochondrial complex deficiency, Mitochondrial disease, Muscle weakness and isolated complex i deficiency
TMEM70 3 / 31 Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
TRIT1 3 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease, Trna isopentenyltransferase deficiency
TRMT5 3 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease, Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
TSFM 3 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
TTC19 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TYMP 3 / 31 Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
UQCRFS1 3 / 31 Mitochondrial complex deficiency, Mitochondrial complex iii deficiency, cardiomyopathy, and alopecia totalis, Mitochondrial disease
UQCRQ 3 / 31 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
AARS2 2 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease
ACAD9 2 / 31 Isolated complex i deficiency, Mitochondrial complex deficiency
AIFM1 2 / 31 Combined oxidative phosphorylation deficiency, Leigh syndrome
ATP5F1D 2 / 31 Mitochondrial complex deficiency, Mitochondrial disease
ATP5F1E 2 / 31 Mitochondrial complex deficiency, Mitochondrial disease
ATP5PO 2 / 31 Mitochondrial complex deficiency, Mitochondrial disease
ATP8 2 / 31 Mitochondrial complex deficiency, Mitochondrial disease
ATPAF2 2 / 31 Mitochondrial complex deficiency, Mitochondrial disease
C1QBP 2 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease
CARS2 2 / 31 Combined oxidative phosphorylation deficiency, Mitochondrial disease
COA8 2 / 31 Mitochondrial complex deficiency, Mitochondrial disease
COQ2 2 / 31 Leigh syndrome, Mitochondrial disease
COQ9 2 / 31 Leigh syndrome, Mitochondrial disease
What do these columns mean?
Connections in cluster
How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners
How many of those links are statistically significant (FDR q < 0.05).
Curated genes
Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes)
How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y)
x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count
Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment
Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value
Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster)
Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster)
Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Respiratory electron transport
SCO2, SURF1, COX6B1, SCO1, TACO1, COX14, COX20, COX4I1, COX5A, COX8A, LRPPRC, ND3
 Reactome 60 / 83 26.8× 2.72e-77 3.71e-72 ✓ sig.
Oxidative phosphorylation
COX15, ATP5F1A, COX10, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2
 KEGG 69 / 137 18.7× 7.47e-73 5.08e-68 ✓ sig.
Thermogenesis
COA5, COA6, COX15, ATP5F1A, COX10, COX6B1, COA3, COX14, COX20, COX4I1, COX5A, COX6A2
 KEGG 83 / 234 13.1× 2.41e-72 1.09e-67 ✓ sig.
Diabetic cardiomyopathy
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 70 / 205 12.7× 2.74e-59 6.21e-55 ✓ sig.
Complex I biogenesis
ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA3
 Reactome 43 / 55 29.0× 6.60e-58 1.12e-53 ✓ sig.
Chemical carcinogenesis - reactive oxygen species
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 67 / 227 10.9× 6.97e-52 7.91e-48 ✓ sig.
Parkinson disease
TXN2, ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 70 / 268 9.7× 3.24e-50 3.39e-46 ✓ sig.
Prion disease
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 66 / 275 8.9× 1.07e-44 9.12e-41 ✓ sig.
Huntington disease
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 69 / 308 8.3× 1.24e-44 9.93e-41 ✓ sig.
Non-alcoholic fatty liver disease
COX6B1, COX4I1, COX5A, COX6A2, COX8A, NDUFS2, NDUFS3, NDUFS4, SDHA, COXFA4, NDUFA1, NDUFA10
 KEGG 52 / 157 12.3× 4.74e-43 3.39e-39 ✓ sig.
Amyotrophic lateral sclerosis
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 71 / 368 7.2× 2.74e-41 1.86e-37 ✓ sig.
Alzheimer disease
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 70 / 388 6.7× 1.14e-38 7.35e-35 ✓ sig.
Pathways of neurodegeneration - multiple diseases
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4
 KEGG 71 / 480 5.5× 2.22e-33 7.56e-30 ✓ sig.
Metabolic pathways
COX15, MTFMT, MARS2, EARS2, ATP5F1A, TRIT1, QRSL1, GATB, GATC, NFS1, CRLS1, COX10
 KEGG 118 / 1,563 2.8× 1.40e-27 2.69e-24 ✓ sig.
Retrograde endocannabinoid signaling
ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, COXFA4, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2
 KEGG 36 / 149 9.0× 1.44e-24 1.63e-21 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
proton motive force-driven mitochondrial ATP synthesis
ATP5F1A, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, SDHA, NDUFA1, NDUFA10, NDUFA12, NDUFA13
 GO:0042776 44 / 64 39.7× 2.36e-63 9.64e-59 ✓ sig.
aerobic respiration
SURF1, COX10, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, NDUFA1, NDUFA10, NDUFA12, NDUFA13
 GO:0009060 44 / 68 37.3× 1.71e-61 6.33e-57 ✓ sig.
mitochondrial electron transport, NADH to ubiquinone
ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, COQ9, COXFA4, DLD, NDUFA1, NDUFA10, NDUFA2
 GO:0006120 36 / 47 44.2× 8.14e-55 2.37e-50 ✓ sig.
proton transmembrane transport
SURF1, ATP5F1A, COX6B1, COX4I1, COX5A, COX8A, ND3, ND6, NDUFS2, NDUFS3, NDUFS4, COXFA4
 GO:1902600 53 / 181 16.9× 1.93e-50 3.75e-46 ✓ sig.
mitochondrial respiratory chain complex I assembly
ND5, ND6, NDUFS2, NDUFS3, NDUFS4, BCS1L, FOXRED1, NDUFA13, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6
 GO:0032981 31 / 40 44.7× 1.42e-47 2.15e-43 ✓ sig.
mitochondrial translation
MRPS16, GFM2, MRPL3, MRPL44, MRPS22, MRPS34, MRPS7, MRPS2, MRPS14, QRSL1, GATB, GATC
 GO:0032543 26 / 93 16.1× 1.65e-24 4.56e-21 ✓ sig.
cellular respiration
COX6B1, COX4I1, COX5A, COX8A, COXFA4, NDUFS1, UQCRQ, CYC1, CYTB, LYRM7, UQCRB, UQCRC2
 GO:0045333 19 / 41 26.7× 3.55e-23 7.79e-20 ✓ sig.
translation
RMND1, FARS2, MTFMT, MRPS16, VARS1, VARS2, TARS2, NARS2, MARS2, CARS2, GFM2, TUFM
 GO:0006412 37 / 310 6.9× 1.59e-20 2.47e-17 ✓ sig.
mitochondrial cytochrome c oxidase assembly
COA5, COA6, SCO2, SURF1, SCO1, TACO1, COA3, COX14, COX20, PET100, PET117, BCS1L
 GO:0033617 15 / 27 32.0× 4.01e-20 5.82e-17 ✓ sig.
tRNA aminoacylation for protein translation
FARS2, VARS1, VARS2, TARS2, NARS2, MARS2, CARS2, EARS2, IARS2, NARS1, DARS2, PARS2
 GO:0006418 16 / 36 25.6× 2.46e-19 3.27e-16 ✓ sig.
tricarboxylic acid cycle
SDHA, DLAT, PDHA1, PDHB, SUCLA2, SUCLG1, SDHD, SDHB, ACO2, IDH2, NNT, SDHC
 GO:0006099 14 / 33 24.5× 1.02e-16 9.03e-14 ✓ sig.
respiratory chain complex IV assembly
COA6, SCO2, SURF1, COX10, SCO1, SLC25A46, COX18, COX3, COA7
 GO:0008535 9 / 9 57.7× 1.27e-16 1.11e-13 ✓ sig.
mitochondrial electron transport, cytochrome c to oxygen
COX6B1, COX4I1, COX5A, COX6A2, COX8A, COXFA4, COX1, COX2, COX3, COX4I2, COX6A1, COX7B
 GO:0006123 12 / 23 30.1× 6.87e-16 5.26e-13 ✓ sig.
oxidative phosphorylation
COX6B1, COX4I1, COX5A, COX6A2, COX8A, UQCRB, UQCRC2, UQCRH, COX1, COX4I2, COX6A1, COX7B
 GO:0006119 12 / 27 25.6× 8.30e-15 5.38e-12 ✓ sig.
mitochondrion organization
LONP1, PNPT1, MIEF2, COX10, BCS1L, DNM1L, MFF, NUBPL, OPA1, SLC25A46, VPS13D, NDUFS6
 GO:0007005 21 / 130 9.3× 8.70e-15 5.61e-12 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Mitochondrial complex deficiency Mitochondrial disease 0.363 98 2.80e-163 1.67e-161 ✓ sig.
Leigh syndrome Mitochondrial disease 0.256 73 4.28e-108 1.92e-106 ✓ sig.
Leigh syndrome Mitochondrial complex deficiency 0.265 48 9.31e-76 3.20e-74 ✓ sig.
Combined oxidative phosphorylation deficiency Mitochondrial disease 0.170 46 9.53e-68 3.07e-66 ✓ sig.
Isolated complex i deficiency Mitochondrial complex deficiency 0.192 23 2.44e-50 6.58e-49 ✓ sig.
Cytochrome c oxidase deficiency Mitochondrial complex deficiency 0.167 20 9.59e-44 2.36e-42 ✓ sig.
Isolated complex i deficiency Mitochondrial disease 0.088 22 2.78e-39 6.43e-38 ✓ sig.
Cytochrome c oxidase deficiency Mitochondrial disease 0.080 20 5.66e-37 1.27e-35 ✓ sig.
Isolated complex i deficiency Leigh syndrome 0.157 18 1.34e-35 2.94e-34 ✓ sig.
Leigh syndrome Mitochondrial encephalomyopathy 0.095 11 1.49e-20 2.23e-19 ✓ sig.
Cytochrome c oxidase deficiency Leigh syndrome 0.092 11 1.99e-19 2.85e-18 ✓ sig.
Combined oxidative phosphorylation deficiency Leigh syndrome 0.085 14 2.78e-17 3.68e-16 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Cytochrome c oxidase deficiency 0.238 5 2.09e-15 2.56e-14 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Mitochondrial complex deficiency 0.042 5 2.46e-11 2.42e-10 ✓ sig.
Combined oxidative phosphorylation deficiency Mitochondrial encephalomyopathy 0.036 3 5.27e-5 1.99e-4 ✓ sig.
Isolated complex i deficiency Mitochondrial encephalomyopathy 0.051 2 2.83e-4 5.90e-4 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Leigh syndrome, due to cox iv deficiency 0.167 1 3.23e-4 6.41e-4 ✓ sig.
Fatal encephalopathy, lactic acidosis, and severe mitochondrial dna depletion in muscle Mitochondrial encephalomyopathy 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Mitochondrial encephalomyopathy Spastic paraplegia 55, autosomal recessive 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Codas syndrome Mitochondrial encephalomyopathy 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Mitochondrial encephalomyopathy Progressive cavitating leukoencephalopathy 0.056 1 1.10e-3 1.65e-3 ✓ sig.
Cytochrome c oxidase deficiency Leigh syndrome, due to cox iv deficiency 0.048 1 1.29e-3 1.89e-3 ✓ sig.
Isolated complex i deficiency Mitochondrial complex i deficiency, nuclear type 5 complex i (mitochondrial respiratory chain disorders (caused by nuclear variants only), oxphos structural subunits) 0.042 1 1.49e-3 2.12e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Spastic paraplegia 55, autosomal recessive 0.014 1 4.39e-3 5.34e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex i deficiency 0.014 1 4.39e-3 5.34e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies 0.014 1 4.39e-3 5.34e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Failure to thrive, hyperlactatemia and hyperammonemia 0.014 1 4.39e-3 5.34e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 0.014 1 4.39e-3 5.34e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Trna isopentenyltransferase deficiency 0.014 1 4.39e-3 5.34e-3 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Mitochondrial encephalomyopathy 0.045 1 5.48e-3 6.50e-3 ✓ sig.
Leigh syndrome Mitochondrial complex i deficiency, nuclear type 5 complex i (mitochondrial respiratory chain disorders (caused by nuclear variants only), oxphos structural subunits) 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Leigh syndrome Progressive cavitating leukoencephalopathy 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Leigh syndrome Mitochondrial complex i deficiency 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Codas syndrome Leigh syndrome 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Leigh syndrome Pyruvate dehydrogenase e1-alpha deficiency 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Ethylmalonic encephalopathy Leigh syndrome 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Leigh syndrome Pyruvate dehydrogenase e1-beta deficiency 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Leigh syndrome Spastic paraplegia 55, autosomal recessive 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Hurthle cell thyroid cancer Leigh syndrome 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Fatal encephalopathy, lactic acidosis, and severe mitochondrial dna depletion in muscle Leigh syndrome 0.009 1 7.04e-3 8.16e-3 ✓ sig.
Mitochondrial complex deficiency Progressive cavitating leukoencephalopathy 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Mitochondrial complex deficiency Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Mitochondrial complex deficiency Muscle weakness and isolated complex i deficiency 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Mitochondrial complex deficiency Mitochondrial complex i deficiency, nuclear type 5 complex i (mitochondrial respiratory chain disorders (caused by nuclear variants only), oxphos structural subunits) 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Hurthle cell thyroid cancer Mitochondrial complex deficiency 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Mitochondrial complex deficiency Mitochondrial complex iii deficiency, cardiomyopathy, and alopecia totalis 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Mitochondrial complex deficiency Mitochondrial complex i deficiency 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Early onset isolated mitochondrial complex i deficiency Mitochondrial complex deficiency 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Failure to thrive, hyperlactatemia and hyperammonemia Mitochondrial complex deficiency 0.008 1 7.68e-3 8.82e-3 ✓ sig.
Mitochondrial disease Trna isopentenyltransferase deficiency 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial disease Mitochondrial phosphate carrier deficiency 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Fatal encephalopathy, lactic acidosis, and severe mitochondrial dna depletion in muscle Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Hurthle cell thyroid cancer Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial disease Sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex i deficiency Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial disease Pyruvate dehydrogenase e1-alpha deficiency 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Early onset isolated mitochondrial complex i deficiency Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial complex i deficiency Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial disease Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Failure to thrive, hyperlactatemia and hyperammonemia Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial disease Myoclonus, familial, 1 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial disease Muscle weakness and isolated complex i deficiency 0.004 1 1.60e-2 1.74e-2 ✓ sig.
Mitochondrial complex iii deficiency, cardiomyopathy, and alopecia totalis Mitochondrial disease 0.004 1 1.60e-2 1.74e-2 ✓ sig.