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.

← Back to all clusters

Cluster 181

8 diseases · 12 shared-gene connections
8 Diseases
50 Unique genes
0.192 Avg. similarity score
Dysphonia Most-connected disease (4 links)
Log in to save this analysis

Save This Analysis

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 ⇵
Dysphonia 4 4 2
Mitochondrial hepatopathy 4 4 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 4 4 5
Mitochondrial dna depletion syndrome 3 3 29
perrault syndrome 5 3 3 1
Bulimia 2 2 20
Intermittent explosive disorder 2 2 1
fanconi anemia complementation group i 2 2 1

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
TWNK 5 / 8 Dysphonia, Mitochondrial dna depletion syndrome, Mitochondrial hepatopathy, perrault syndrome 5 and 1 more
COMT 3 / 8 Bulimia, Dysphonia, Intermittent explosive disorder
FANCI 3 / 8 fanconi anemia complementation group i, Mitochondrial dna depletion syndrome, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG 3 / 8 Mitochondrial dna depletion syndrome, Mitochondrial hepatopathy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLGARF 3 / 8 Mitochondrial dna depletion syndrome, Mitochondrial hepatopathy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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 ⇵
Nucleotide metabolism
NT5C1B, DGUOK, DTYMK, RRM2B, TK2, TYMP, GUK1
 KEGG 7 / 85 19.8× 5.41e-8 3.82e-6 ✓ sig.
Pyrimidine metabolism
NT5C1B, DTYMK, RRM2B, TK2, TYMP
 KEGG 5 / 58 20.7× 3.95e-6 1.56e-4 ✓ sig.
Purine metabolism
NT5C1B, PDE8A, DGUOK, RRM2B, GUK1
 KEGG 5 / 128 9.4× 1.83e-4 3.66e-3 ✓ sig.
Interconversion of nucleotide di- and triphosphates
DTYMK, RRM2B, GUK1
 Reactome 3 / 29 24.8× 2.30e-4 4.37e-3 ✓ sig.
Base excision repair
POLG, POLG2, LIG3
 KEGG 3 / 44 16.4× 7.97e-4 1.15e-2 ✓ sig.
Pyrimidine salvage
TK2, TYMP
 Reactome 2 / 11 43.7× 9.12e-4 1.27e-2 ✓ sig.
Transcriptional activation of mitochondrial biogenesis
POLG2, TWNK, TFAM
 Reactome 3 / 51 14.1× 1.23e-3 1.58e-2 ✓ sig.
Spinocerebellar ataxia
DAB1, TWNK, SLC25A4, OPA1
 KEGG 4 / 144 6.7× 2.98e-3 3.06e-2 ✓ sig.
Citric acid cycle (TCA cycle)
SUCLA2, SUCLG1
 Reactome 2 / 22 21.8× 3.72e-3 3.59e-2 ✓ sig.
Drug metabolism - other enzymes
RRM2B, TK2, TYMP
 KEGG 3 / 81 8.9× 4.61e-3 4.15e-2 ✓ sig.
Citrate cycle (TCA cycle)
SUCLA2, SUCLG1
 KEGG 2 / 30 16.0× 6.86e-3 5.40e-2
Propanoate metabolism
SUCLA2, SUCLG1
 KEGG 2 / 32 15.0× 7.78e-3 5.86e-2
Regulation of Apoptosis
OPA1
 Reactome 1 / 2 120× 8.31e-3 6.11e-2
Enzymatic degradation of Dopamine by monoamine oxidase
COMT
 Reactome 1 / 2 120× 8.31e-3 6.11e-2
Enzymatic degradation of dopamine by COMT
COMT
 Reactome 1 / 3 80.1× 1.24e-2 7.78e-2

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

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
mitochondrial DNA replication
POLG, POLG2, RRM2B, TWNK, MGME1
 GO:0006264 5 / 11 170× 5.10e-11 1.57e-8 ✓ sig.
DNA biosynthetic process
POLG, POLG2, TK2, LIG3
 GO:0071897 4 / 32 46.7× 1.54e-6 1.17e-4 ✓ sig.
carbohydrate derivative metabolic process
DGUOK, TK2, TYMP
 GO:1901135 3 / 18 62.3× 1.43e-5 6.91e-4 ✓ sig.
DNA replication
RMI2, POLG, POLG2, TWNK, LIG3
 GO:0006260 5 / 131 14.3× 2.58e-5 1.09e-3 ✓ sig.
succinyl-CoA catabolic process
SUCLA2, SUCLG1
 GO:1901289 2 / 6 125× 1.05e-4 3.12e-3 ✓ sig.
mitochondrial DNA repair
MGME1, LIG3
 GO:0043504 2 / 7 107× 1.46e-4 4.01e-3 ✓ sig.
DNA-templated DNA replication
POLG, POLG2, TWNK
 GO:0006261 3 / 41 27.3× 1.79e-4 4.67e-3 ✓ sig.
mitochondrial transcription
TWNK, TFAM
 GO:0006390 2 / 8 93.4× 1.94e-4 4.95e-3 ✓ sig.
GMP metabolic process
MAGI3, GUK1
 GO:0046037 2 / 12 62.3× 4.55e-4 8.97e-3 ✓ sig.
nucleotide biosynthetic process
DTYMK, TK2
 GO:0009165 2 / 14 53.4× 6.25e-4 1.12e-2 ✓ sig.
base-excision repair, gap-filling
POLG, LIG3
 GO:0006287 2 / 14 53.4× 6.25e-4 1.12e-2 ✓ sig.
DNA repair
RMI2, POLG, RRM2B, FANCI, MGME1, LIG3
 GO:0006281 6 / 420 5.3× 8.56e-4 1.36e-2 ✓ sig.
cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration
DAB1
 GO:0021813 1 / 1 374× 2.68e-3 2.65e-2 ✓ sig.
catecholamine catabolic process
COMT
 GO:0042424 1 / 1 374× 2.68e-3 2.65e-2 ✓ sig.
norepinephrine secretion
COMT
 GO:0048243 1 / 1 374× 2.68e-3 2.65e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Mitochondrial hepatopathy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.500 3 1.64e-11 1.88e-10 ✓ sig.
Mitochondrial dna depletion syndrome Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.129 4 5.07e-11 5.51e-10 ✓ sig.
Mitochondrial dna depletion syndrome Mitochondrial hepatopathy 0.100 3 6.01e-9 5.33e-8 ✓ sig.
Dysphonia Intermittent explosive disorder 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dysphonia perrault syndrome 5 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Mitochondrial hepatopathy perrault syndrome 5 0.250 1 1.95e-4 5.28e-4 ✓ sig.
fanconi anemia complementation group i Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.167 1 3.25e-4 7.58e-4 ✓ sig.
perrault syndrome 5 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Dysphonia Mitochondrial hepatopathy 0.200 1 3.90e-4 8.52e-4 ✓ sig.
Bulimia Intermittent explosive disorder 0.048 1 1.30e-3 2.04e-3 ✓ sig.
fanconi anemia complementation group i Mitochondrial dna depletion syndrome 0.033 1 1.88e-3 2.75e-3 ✓ sig.
Bulimia Dysphonia 0.045 1 2.60e-3 3.50e-3 ✓ sig.