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 9
34
Diseases
102
Unique genes
0.063
Avg. similarity score
Ciliary dyskinesia
Most-connected disease (29 links)
Disease
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Ciliary dyskinesia
Congenital nasopharyngeal atresia
Ciliary dyskinesia, with or without situs inversus
Polynesian bronchiectasis
primary ciliary dyskinesia 1
primary ciliary dyskinesia 17
primary ciliary dyskinesia 2
primary ciliary dyskinesia 21
primary ciliary dyskinesia 25
primary ciliary dyskinesia 7
primary ciliary dyskinesia 11
primary ciliary dyskinesia 15
primary ciliary dyskinesia 3
primary ciliary dyskinesia 30
primary ciliary dyskinesia 10
primary ciliary dyskinesia 12
primary ciliary dyskinesia 16
primary ciliary dyskinesia 18
primary ciliary dyskinesia 22
primary ciliary dyskinesia 23
primary ciliary dyskinesia 24
primary ciliary dyskinesia 29
primary ciliary dyskinesia 32
primary ciliary dyskinesia 9
Bone remodeling disease
ciliary dyskinesia, primary, 36, x-linked
ciliary dyskinesia, primary, 42
ciliary dyskinesia, primary, 43
ciliary dyskinesia, primary, 48, without situs inversus
ciliary dyskinesia, primary, 49, without situs inversus
ciliary dyskinesia, primary, 53
primary ciliary dyskinesia 27
primary ciliary dyskinesia 33
primary ciliary dyskinesia 34
Member diseases (most connected first ‐ the cluster's core)
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| DNAH11 | 6 / 34 | Bone remodeling disease, Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia and 2 more |
| CCDC40 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| DNAAF19 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| DNAAF3 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| DNAAF4 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| DNAH5 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| DNAI1 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| DRC1 | 5 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, Polynesian bronchiectasis and 1 more |
| ODAD3 | 4 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 30 |
| RSPH4A | 4 / 34 | Ciliary dyskinesia, Ciliary dyskinesia, with or without situs inversus, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 11 |
| CCNO | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 29 |
| DNAAF2 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 10 |
| DNAAF5 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 18 |
| DNAI2 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 9 |
| DNAL1 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 16 |
| ODAD2 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 23 |
| RSPH1 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 24 |
| RSPH3 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 32 |
| RSPH9 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 12 |
| ZMYND10 | 3 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia, primary ciliary dyskinesia 22 |
| CCDC39 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| CCDC65 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| CFAP298 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| CFAP74 | 2 / 34 | Ciliary dyskinesia, ciliary dyskinesia, primary, 49, without situs inversus |
| CLXN | 2 / 34 | Ciliary dyskinesia, ciliary dyskinesia, primary, 53 |
| DNAAF1 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| DNAAF11 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| DNAAF6 | 2 / 34 | Ciliary dyskinesia, ciliary dyskinesia, primary, 36, x-linked |
| DNAJB13 | 2 / 34 | Ciliary dyskinesia, primary ciliary dyskinesia 34 |
| DRC2 | 2 / 34 | Ciliary dyskinesia, primary ciliary dyskinesia 27 |
| DRC4 | 2 / 34 | Ciliary dyskinesia, primary ciliary dyskinesia 33 |
| FOXJ1 | 2 / 34 | Ciliary dyskinesia, ciliary dyskinesia, primary, 43 |
| GAS8 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| HYDIN | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| MBL2 | 2 / 34 | Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis |
| MCIDAS | 2 / 34 | Ciliary dyskinesia, ciliary dyskinesia, primary, 42 |
| NME5 | 2 / 34 | Ciliary dyskinesia, ciliary dyskinesia, primary, 48, without situs inversus |
| NME8 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| ODAD1 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
| SPAG1 | 2 / 34 | Ciliary dyskinesia, Congenital nasopharyngeal atresia |
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 | KEGG | 13 / 194 | 7.9× | 9.06e-9 | 8.01e-7 ✓ sig. |
| Huntington disease | KEGG | 13 / 308 | 5.0× | 1.94e-6 | 8.58e-5 ✓ sig. |
| Pathways of neurodegeneration - multiple diseases | KEGG | 14 / 480 | 3.4× | 5.18e-5 | 1.32e-3 ✓ sig. |
| Amyotrophic lateral sclerosis | KEGG | 12 / 368 | 3.8× | 6.46e-5 | 1.57e-3 ✓ sig. |
| Hedgehog 'off' state | Reactome | 4 / 56 | 8.4× | 1.28e-3 | 1.64e-2 ✓ sig. |
| TP53 Regulates Transcription of Genes Involved in Cytochrome C Release | Reactome | 2 / 20 | 11.8× | 1.23e-2 | 7.75e-2 |
| CD209 (DC-SIGN) signaling | Reactome | 2 / 21 | 11.2× | 1.35e-2 | 8.17e-2 |
| Glycogen storage disease type II (GAA) | Reactome | 1 / 2 | 58.9× | 1.69e-2 | 9.38e-2 |
| ARL13B-mediated ciliary trafficking of INPP5E | Reactome | 1 / 3 | 39.2× | 2.53e-2 | 1.17e-1 |
| Antifolate resistance | KEGG | 2 / 30 | 7.8× | 2.66e-2 | 1.21e-1 |
| Hyaluronan biosynthesis and export | Reactome | 1 / 5 | 23.5× | 4.18e-2 | 1.55e-1 |
| LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | Reactome | 1 / 5 | 23.5× | 4.18e-2 | 1.55e-1 |
| CLEC7A/inflammasome pathway | Reactome | 1 / 6 | 19.6× | 4.99e-2 | 1.71e-1 |
| IkBA variant leads to EDA-ID | Reactome | 1 / 7 | 16.8× | 5.80e-2 | 1.85e-1 |
| RUNX1 regulates transcription of genes involved in differentiation of myeloid cells | Reactome | 1 / 7 | 16.8× | 5.80e-2 | 1.85e-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 ⇵ |
|---|---|---|---|---|---|
| cilium movement | GO:0003341 | 24 / 48 | 91.6× | 7.67e-43 | 9.94e-39 ✓ sig. |
| outer dynein arm assembly | GO:0036158 | 17 / 22 | 142× | 2.14e-35 | 1.63e-31 ✓ sig. |
| epithelial cilium movement involved in extracellular fluid movement | GO:0003351 | 15 / 26 | 106× | 2.85e-28 | 1.35e-24 ✓ sig. |
| cilium movement involved in cell motility | GO:0060294 | 14 / 27 | 95.0× | 1.56e-25 | 5.19e-22 ✓ sig. |
| cell projection organization | GO:0030030 | 24 / 214 | 20.5× | 4.37e-25 | 1.39e-21 ✓ sig. |
| axonemal dynein complex assembly | GO:0070286 | 12 / 16 | 137× | 6.40e-25 | 2.02e-21 ✓ sig. |
| inner dynein arm assembly | GO:0036159 | 11 / 18 | 112× | 2.27e-21 | 4.41e-18 ✓ sig. |
| cilium assembly | GO:0060271 | 22 / 237 | 17.0× | 3.40e-21 | 6.53e-18 ✓ sig. |
| determination of left/right symmetry | GO:0007368 | 16 / 83 | 35.3× | 6.98e-21 | 1.28e-17 ✓ sig. |
| cerebrospinal fluid circulation | GO:0090660 | 10 / 18 | 102× | 6.30e-19 | 8.57e-16 ✓ sig. |
| motile cilium assembly | GO:0044458 | 11 / 28 | 72.0× | 1.46e-18 | 1.92e-15 ✓ sig. |
| axoneme assembly | GO:0035082 | 11 / 33 | 61.1× | 1.29e-17 | 1.48e-14 ✓ sig. |
| epithelial cilium movement involved in determination of left/right asymmetry | GO:0060287 | 8 / 13 | 113× | 7.49e-16 | 5.98e-13 ✓ sig. |
| flagellated sperm motility | GO:0030317 | 15 / 142 | 19.4× | 1.52e-15 | 1.14e-12 ✓ sig. |
| mucociliary clearance | GO:0120197 | 7 / 12 | 107× | 9.07e-14 | 5.01e-11 ✓ sig. |