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 233

9 diseases · 13 shared-gene connections
9 Diseases
11 Unique genes
0.141 Avg. similarity score
Ciliary dyskinesia, with or without situs inversus Most-connected disease (8 links)
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Disease Searched: Primary ciliary dyskinesia 2 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 ⇵
Ciliary dyskinesia, with or without situs inversus 8 8 11
Polynesian bronchiectasis 6 6 9
Primary ciliary dyskinesia 15 2 2 1
Primary ciliary dyskinesia 17 2 2 1
Primary ciliary dyskinesia 2 2 2 1
Primary ciliary dyskinesia 3 2 2 1
Primary ciliary dyskinesia 7 2 2 1
Primary ciliary dyskinesia 11 1 1 1
Primary ciliary dyskinesia 30 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CCDC40 3 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis, Primary ciliary dyskinesia 15
DNAAF19 3 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis, Primary ciliary dyskinesia 17
DNAAF3 3 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis, Primary ciliary dyskinesia 2
DNAH11 3 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis, Primary ciliary dyskinesia 7
DNAH5 3 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis, Primary ciliary dyskinesia 3
DNAAF4 2 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis
DNAI1 2 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis
DRC1 2 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis
MBL2 2 / 9 Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis
ODAD3 2 / 9 Ciliary dyskinesia, with or without situs inversus, Primary ciliary dyskinesia 30
RSPH4A 2 / 9 Ciliary dyskinesia, with or without situs inversus, Primary ciliary dyskinesia 11
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 ⇵
Motor proteins
DNAH11, DNAH5, DNAI1
 KEGG 3 / 194 16.9× 6.22e-4 7.92e-3 ✓ sig.
Huntington disease
DNAH11, DNAH5, DNAI1
 KEGG 3 / 308 10.6× 2.37e-3 2.15e-2 ✓ sig.
Amyotrophic lateral sclerosis
DNAH11, DNAH5, DNAI1
 KEGG 3 / 368 8.9× 3.92e-3 3.09e-2 ✓ sig.
Lectin pathway of complement activation
MBL2
 Reactome 1 / 8 136× 7.31e-3 4.67e-2 ✓ sig.
Pathways of neurodegeneration - multiple diseases
DNAH11, DNAH5, DNAI1
 KEGG 3 / 480 6.8× 8.23e-3 5.04e-2
Initial triggering of complement
MBL2
 Reactome 1 / 17 64.2× 1.55e-2 7.39e-2
Complement and coagulation cascades
MBL2
 KEGG 1 / 88 12.4× 7.77e-2 1.87e-1
Staphylococcus aureus infection
MBL2
 KEGG 1 / 99 11.0× 8.71e-2 1.99e-1
Phagosome
MBL2
 KEGG 1 / 155 7.0× 1.33e-1 2.56e-1
Coronavirus disease - COVID-19
MBL2
 KEGG 1 / 238 4.6× 1.98e-1 3.29e-1

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

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
determination of left/right symmetry
CCDC40, DNAAF3, DNAAF4, DNAH11, DNAH5, DNAI1, DRC1, ODAD3
 GO:0007368 8 / 83 164× 1.75e-17 1.97e-14 ✓ sig.
cilium movement
CCDC40, DNAAF4, DNAH11, DNAH5, DNAI1, ODAD3, RSPH4A
 GO:0003341 7 / 48 248× 1.53e-16 1.44e-13 ✓ sig.
epithelial cilium movement involved in extracellular fluid movement
CCDC40, DNAAF4, DNAH11, DNAH5, DNAI1, RSPH4A
 GO:0003351 6 / 26 392× 1.79e-15 1.41e-12 ✓ sig.
heart development
DNAAF3, DNAAF4, DNAH11, DNAH5, DNAI1, DRC1, ODAD3
 GO:0007507 7 / 273 43.6× 4.13e-11 1.38e-8 ✓ sig.
flagellated sperm motility
CCDC40, DNAH11, DNAH5, DNAI1, DRC1, ODAD3
 GO:0030317 6 / 142 71.8× 7.75e-11 2.43e-8 ✓ sig.
outer dynein arm assembly
DNAAF4, DNAH5, DNAI1, ODAD3
 GO:0036158 4 / 22 309× 4.73e-10 1.22e-7 ✓ sig.
epithelial cilium movement involved in determination of left/right asymmetry
CCDC40, DNAH11, ODAD3
 GO:0060287 3 / 13 392× 4.33e-8 6.28e-6 ✓ sig.
axonemal dynein complex assembly
CCDC40, DNAAF3, DRC1
 GO:0070286 3 / 16 319× 8.46e-8 1.10e-5 ✓ sig.
cilium movement involved in cell motility
DNAH11, DNAH5, RSPH4A
 GO:0060294 3 / 27 189× 4.40e-7 4.38e-5 ✓ sig.
axoneme assembly
CCDC40, DRC1, RSPH4A
 GO:0035082 3 / 33 154× 8.20e-7 7.30e-5 ✓ sig.
cell projection organization
DNAAF3, DNAI1, ODAD3, RSPH4A
 GO:0030030 4 / 214 31.8× 5.18e-6 3.26e-4 ✓ sig.
regulation of cilium beat frequency
CCDC40, DNAH11
 GO:0003356 2 / 8 425× 8.80e-6 4.92e-4 ✓ sig.
cerebrospinal fluid circulation
DNAAF3, ODAD3
 GO:0090660 2 / 18 189× 4.80e-5 1.79e-3 ✓ sig.
inner dynein arm assembly
CCDC40, DNAAF4
 GO:0036159 2 / 18 189× 4.80e-5 1.79e-3 ✓ sig.
seminiferous tubule development
DNAAF3, ODAD3
 GO:0072520 2 / 21 162× 6.58e-5 2.26e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Ciliary dyskinesia, with or without situs inversus Polynesian bronchiectasis 0.750 9 3.90e-31 7.81e-30 ✓ sig.
Polynesian bronchiectasis Primary ciliary dyskinesia 15 0.100 1 5.81e-4 1.00e-3 ✓ sig.
Polynesian bronchiectasis Primary ciliary dyskinesia 17 0.100 1 5.81e-4 1.00e-3 ✓ sig.
Polynesian bronchiectasis Primary ciliary dyskinesia 2 0.100 1 5.81e-4 1.00e-3 ✓ sig.
Polynesian bronchiectasis Primary ciliary dyskinesia 3 0.100 1 5.81e-4 1.00e-3 ✓ sig.
Polynesian bronchiectasis Primary ciliary dyskinesia 7 0.100 1 5.81e-4 1.00e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 11 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 15 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 17 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 2 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 3 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 30 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Ciliary dyskinesia, with or without situs inversus Primary ciliary dyskinesia 7 0.083 1 7.10e-4 1.17e-3 ✓ sig.