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 62

14 diseases · 26 shared-gene connections
14 Diseases
316 Unique genes
0.083 Avg. similarity score
Mitochondrial disease Most-connected disease (9 links)
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Disease 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.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Mitochondrial disease 9 9 242
Leigh syndrome 8 8 107
Combined oxidative phosphorylation deficiency 5 5 68
Mitochondrial complex deficiency 5 5 119
Mitochondrial encephalomyopathy 5 5 16
Cytochrome c oxidase deficiency 4 4 20
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 3 5
Mitochondrial encephalocardiomyopathy 3 3 1
Sandhoff disease 3 3 2
Codas syndrome 2 2 1
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 2 2 1
Early-onset dystonia with spastic paraplegia 1 1 1
Pancreatic insufficiency syndrome 1 1 1
mitochondrial short-chain enoyl-coa hydratase 1 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 / 14 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency and 2 more
COX15 5 / 14 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency and 1 more
SURF1 5 / 14 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency and 1 more
COA5 4 / 14 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, mitochondrial disease
COA6 4 / 14 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, mitochondrial disease
COX10 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
COX4I1 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
COX8A 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
FARS2 4 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, mitochondrial disease, Mitochondrial encephalomyopathy
FASTKD2 4 / 14 Combined oxidative phosphorylation deficiency, Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
FOXRED1 4 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
GFM2 4 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease, Sandhoff disease
LRPPRC 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
MTRFR 4 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
NDUFS2 4 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
NDUFV2 4 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
PET100 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
PET117 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
SCO1 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TACO1 4 / 14 Cytochrome c oxidase deficiency, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TMEM70 4 / 14 Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalocardiomyopathy, Mitochondrial encephalomyopathy
ATP5F1A 3 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial complex deficiency, Mitochondrial disease
ATP5MK 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
BCS1L 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
COA3 3 / 14 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX14 3 / 14 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX20 3 / 14 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX5A 3 / 14 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, mitochondrial disease
COX6A2 3 / 14 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COX6B1 3 / 14 Cytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease
COXFA4 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
CYTB 3 / 14 Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
DNM1L 3 / 14 Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
EARS2 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
FBXL4 3 / 14 Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
GTPBP3 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
LONP1 3 / 14 Codas syndrome, Leigh syndrome, Mitochondrial encephalomyopathy
MRPS25 3 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
MRPS34 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
MTFMT 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial complex deficiency
NARS2 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
ND2 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
ND3 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
ND5 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA1 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NDUFA10 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA12 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NDUFA13 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NDUFA2 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFA9 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NDUFAF2 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF3 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF4 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF5 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF6 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFAF8 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFB8 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NDUFC2 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS1 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS3 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NDUFS4 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS7 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFS8 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
NDUFV1 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
NUBPL 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
POLG 3 / 14 Leigh syndrome, Mitochondrial disease, Mitochondrial encephalomyopathy
SDHA 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
SDHAF1 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TARS2 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, mitochondrial disease
TIMMDC1 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TRMT5 3 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial disease, Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
TSFM 3 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome, Mitochondrial disease
TTC19 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease
TYMP 3 / 14 Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial encephalomyopathy
UQCRQ 3 / 14 Leigh syndrome, Mitochondrial complex deficiency, mitochondrial disease
AARS2 2 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial disease
AIFM1 2 / 14 Combined oxidative phosphorylation deficiency, Leigh syndrome
ATP5F1D 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
ATP5F1E 2 / 14 Mitochondrial complex deficiency, mitochondrial disease
ATP5MC3 2 / 14 Early-onset dystonia with spastic paraplegia, mitochondrial disease
ATP5PO 2 / 14 Mitochondrial complex deficiency, mitochondrial disease
ATP6 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
ATP8 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
ATPAF2 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
C1QBP 2 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial disease
CARS2 2 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial disease
COA8 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
COQ2 2 / 14 Leigh syndrome, Mitochondrial disease
COQ9 2 / 14 Leigh syndrome, Mitochondrial disease
COX1 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
COX11 2 / 14 Mitochondrial complex deficiency, mitochondrial disease
COX16 2 / 14 Mitochondrial complex deficiency, mitochondrial disease
COX2 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
COX3 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
COX4I2 2 / 14 Mitochondrial disease, Pancreatic insufficiency syndrome
CRLS1 2 / 14 Combined oxidative phosphorylation deficiency, mitochondrial disease
CYC1 2 / 14 Mitochondrial complex deficiency, Mitochondrial disease
ECHS1 2 / 14 Leigh syndrome, mitochondrial short-chain enoyl-coa hydratase 1 deficiency
ELAC2 2 / 14 Combined oxidative phosphorylation deficiency, Mitochondrial disease
EME2 2 / 14 Combined oxidative phosphorylation deficiency, 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 59 / 83 27.0× 5.99e-76 6.61e-71 ✓ sig.
Oxidative phosphorylation
COX15, ATP5F1A, COX10, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6
 KEGG 68 / 137 18.9× 5.28e-72 2.41e-67 ✓ sig.
Thermogenesis
COA5, COA6, COX15, ATP5F1A, COX10, COX6B1, COA3, COX14, COX20, COX4I1, COX5A, COX6A2
 KEGG 82 / 234 13.3× 6.55e-72 2.41e-67 ✓ sig.
Diabetic cardiomyopathy
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 69 / 205 12.8× 1.01e-58 2.78e-54 ✓ sig.
Complex I biogenesis
ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA3
 Reactome 42 / 55 29.0× 2.97e-56 5.46e-52 ✓ sig.
Chemical carcinogenesis - reactive oxygen species
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 66 / 227 11.1× 2.29e-51 3.61e-47 ✓ sig.
Parkinson disease
TXN2, ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2
 KEGG 69 / 268 9.8× 8.46e-50 1.17e-45 ✓ sig.
Huntington disease
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 68 / 308 8.4× 2.79e-44 2.59e-40 ✓ sig.
Prion disease
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 65 / 275 9.0× 2.81e-44 2.59e-40 ✓ sig.
Non-alcoholic fatty liver disease
COX6B1, COX4I1, COX5A, COX6A2, COX8A, NDUFS2, NDUFS3, NDUFS4, SDHA, NDUFA1, NDUFA10, NDUFA12
 KEGG 51 / 157 12.3× 2.65e-42 2.09e-38 ✓ sig.
Amyotrophic lateral sclerosis
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 70 / 368 7.2× 5.00e-41 3.68e-37 ✓ sig.
Alzheimer disease
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 68 / 388 6.7× 1.97e-37 1.09e-33 ✓ sig.
Pathways of neurodegeneration - multiple diseases
ATP5F1A, COX6B1, COX4I1, COX5A, COX6A2, COX8A, ATP5MC3, ND3, ND5, ND6, NDUFS2, NDUFS3
 KEGG 69 / 480 5.5× 2.47e-32 9.08e-29 ✓ sig.
Metabolic pathways
COX15, MTFMT, MARS2, EARS2, ATP5F1A, TRIT1, QRSL1, GATB, GATC, NFS1, CRLS1, COX10
 KEGG 117 / 1,563 2.8× 4.27e-28 1.07e-24 ✓ sig.
Retrograde endocannabinoid signaling
ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, NDUFA1, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA3
 KEGG 35 / 149 8.9× 7.79e-24 1.20e-20 ✓ 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 43 / 64 39.7× 1.03e-61 4.00e-57 ✓ sig.
aerobic respiration
SURF1, COX10, ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, NDUFA1, NDUFA10, NDUFA12, NDUFA13
 GO:0009060 43 / 68 37.4× 6.26e-60 2.19e-55 ✓ sig.
mitochondrial electron transport, NADH to ubiquinone
ND3, ND5, ND6, NDUFS2, NDUFS3, NDUFS4, COQ9, DLD, NDUFA1, NDUFA10, NDUFA2, NDUFA3
 GO:0006120 35 / 47 44.0× 6.18e-53 1.44e-48 ✓ sig.
proton transmembrane transport
SURF1, ATP5F1A, COX6B1, COX4I1, COX5A, COX8A, ATP5MC3, ND3, ND6, NDUFS2, NDUFS3, NDUFS4
 GO:1902600 52 / 181 17.0× 1.36e-49 2.81e-45 ✓ sig.
mitochondrial respiratory chain complex I assembly
ND5, ND6, NDUFS2, NDUFS3, NDUFS4, BCS1L, FOXRED1, NDUFA13, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6
 GO:0032981 31 / 40 45.8× 6.33e-48 1.05e-43 ✓ sig.
mitochondrial translation
MRPS16, GFM2, MRPL3, MRPL44, MRPS22, MRPS34, MRPS7, MRPS2, MRPS14, QRSL1, GATB, GATC
 GO:0032543 26 / 93 16.5× 8.64e-25 2.63e-21 ✓ sig.
cellular respiration
COX6B1, COX4I1, COX5A, COX8A, NDUFA4, NDUFS1, UQCRQ, CYC1, CYTB, LYRM7, UQCRB, UQCRC2
 GO:0045333 19 / 41 27.4× 2.20e-23 5.83e-20 ✓ sig.
translation
RMND1, FARS2, MTFMT, MRPS16, VARS1, VARS2, TARS2, NARS2, MARS2, CARS2, GFM2, TUFM
 GO:0006412 37 / 310 7.1× 6.67e-21 1.23e-17 ✓ sig.
mitochondrial cytochrome c oxidase assembly
COA5, COA6, SCO2, SURF1, SCO1, TACO1, COA3, COX14, COX20, PET100, PET117, BCS1L
 GO:0033617 15 / 27 32.9× 2.75e-20 4.76e-17 ✓ sig.
tRNA aminoacylation for protein translation
FARS2, VARS1, VARS2, TARS2, NARS2, MARS2, CARS2, EARS2, IARS2, NARS1, DARS2, PARS2
 GO:0006418 16 / 36 26.3× 1.65e-19 2.46e-16 ✓ sig.
respiratory chain complex IV assembly
COA6, SCO2, SURF1, COX10, SCO1, SLC25A46, COX18, COX3, COA7
 GO:0008535 9 / 9 59.1× 1.01e-16 9.76e-14 ✓ sig.
mitochondrial electron transport, cytochrome c to oxygen
COX6B1, COX4I1, COX5A, COX6A2, COX8A, NDUFA4, COX1, COX2, COX3, COX4I2, COX6A1, COX7B
 GO:0006123 12 / 23 30.9× 5.08e-16 4.21e-13 ✓ sig.
tricarboxylic acid cycle
SDHA, DLAT, PDHA1, PDHB, SUCLA2, SUCLG1, SDHD, SDHB, ACO2, IDH2, NNT, SDHC
 GO:0006099 13 / 33 23.3× 3.06e-15 2.22e-12 ✓ sig.
oxidative phosphorylation
COX6B1, COX4I1, COX5A, COX6A2, COX8A, UQCRB, UQCRC2, UQCRH, COX1, COX4I2, COX6A1, COX7B
 GO:0006119 12 / 27 26.3× 6.15e-15 4.13e-12 ✓ sig.
mitochondrion organization
LONP1, PNPT1, MIEF2, COX10, BCS1L, DNM1L, MFF, NUBPL, OPA1, SLC25A46, VPS13D, NDUFS6
 GO:0007005 20 / 130 9.1× 6.26e-14 3.56e-11 ✓ 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 0.366 97 1.09e-161 2.46e-159 ✓ sig.
Leigh syndrome Mitochondrial disease 0.259 72 1.62e-107 2.20e-105 ✓ sig.
Leigh syndrome Mitochondrial complex deficiency 0.268 48 3.86e-76 3.13e-74 ✓ sig.
Combined oxidative phosphorylation deficiency Mitochondrial disease 0.174 46 3.61e-68 2.68e-66 ✓ sig.
Cytochrome c oxidase deficiency Mitochondrial complex deficiency 0.167 20 1.08e-43 5.22e-42 ✓ sig.
Cytochrome c oxidase deficiency Mitochondrial disease 0.082 20 3.82e-37 1.57e-35 ✓ sig.
Leigh syndrome Mitochondrial encephalomyopathy 0.097 11 4.57e-21 9.65e-20 ✓ sig.
Cytochrome c oxidase deficiency Leigh syndrome 0.094 11 1.72e-19 3.35e-18 ✓ sig.
Combined oxidative phosphorylation deficiency Leigh syndrome 0.086 14 2.30e-17 4.04e-16 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Cytochrome c oxidase deficiency 0.238 5 2.15e-15 3.32e-14 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Mitochondrial complex deficiency 0.042 5 2.53e-11 2.84e-10 ✓ sig.
Combined oxidative phosphorylation deficiency Mitochondrial encephalomyopathy 0.037 3 4.43e-5 2.13e-4 ✓ sig.
Codas syndrome Mitochondrial encephalomyopathy 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Mitochondrial encephalocardiomyopathy Mitochondrial encephalomyopathy 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 0.014 1 4.42e-3 5.52e-3 ✓ sig.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Mitochondrial encephalomyopathy 0.048 1 5.19e-3 6.34e-3 ✓ sig.
Leigh syndrome mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0.009 1 6.95e-3 8.23e-3 ✓ sig.
Codas syndrome Leigh syndrome 0.009 1 6.95e-3 8.23e-3 ✓ sig.
Mitochondrial complex deficiency Mitochondrial encephalocardiomyopathy 0.008 1 7.73e-3 9.02e-3 ✓ sig.
Combined oxidative phosphorylation deficiency Sandhoff disease 0.014 1 8.81e-3 1.02e-2 ✓ sig.
Leigh syndrome Sandhoff disease 0.009 1 1.39e-2 1.54e-2 ✓ sig.
Early-onset dystonia with spastic paraplegia Mitochondrial disease 0.004 1 1.57e-2 1.73e-2 ✓ sig.
Mitochondrial disease Mitochondrial encephalocardiomyopathy 0.004 1 1.57e-2 1.73e-2 ✓ sig.
Mitochondrial disease Pancreatic insufficiency syndrome 0.004 1 1.57e-2 1.73e-2 ✓ sig.
Mitochondrial disease Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 0.004 1 1.57e-2 1.73e-2 ✓ sig.
Mitochondrial disease Sandhoff disease 0.004 1 3.12e-2 3.31e-2 ✓ sig.