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 292
6
Diseases
8
Unique genes
0.354
Avg. similarity score
3mc syndrome
Most-connected disease (5 links)
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.
3mc syndrome
3mc syndrome 1
Carnevale syndrome
Craniofacial ulnar renal syndrome
Malpuech facial clefting syndrome
Oculopalatosekeletal syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| 3mc syndrome | 5 | 5 | 3 |
| 3mc syndrome 1 | 5 | 5 | 1 |
| Carnevale syndrome | 5 | 5 | 3 |
| Craniofacial ulnar renal syndrome | 5 | 5 | 4 |
| Malpuech facial clefting syndrome | 5 | 5 | 3 |
| Oculopalatosekeletal syndrome | 5 | 5 | 5 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| MASP1 | 6 / 6 | 3mc syndrome, 3mc syndrome 1, Carnevale syndrome, Craniofacial ulnar renal syndrome and 2 more |
| COLEC11 | 5 / 6 | 3mc syndrome, Carnevale syndrome, Craniofacial ulnar renal syndrome, Malpuech facial clefting syndrome and 1 more |
| COLEC10 | 3 / 6 | 3mc syndrome, Craniofacial ulnar renal syndrome, Malpuech facial clefting syndrome |
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 ⇵ |
|---|---|---|---|---|---|
| Lectin pathway of complement activation | Reactome | 3 / 8 | 563× | 1.08e-8 | 9.36e-7 ✓ sig. |
| Initial triggering of complement | Reactome | 3 / 17 | 265× | 1.31e-7 | 8.29e-6 ✓ sig. |
| Scavenging by Class A Receptors | Reactome | 2 / 11 | 273× | 2.13e-5 | 6.29e-4 ✓ sig. |
| Defective SLC26A2 causes chondrodysplasias | Reactome | 1 / 1 | 1,501× | 6.66e-4 | 9.96e-3 ✓ sig. |
| Ficolins bind to repetitive carbohydrate structures on the target cell surface | Reactome | 1 / 5 | 300× | 3.33e-3 | 3.31e-2 ✓ sig. |
| FasL/ CD95L signaling | Reactome | 1 / 5 | 300× | 3.33e-3 | 3.31e-2 ✓ sig. |
| Transport and synthesis of PAPS | Reactome | 1 / 6 | 250× | 3.99e-3 | 3.77e-2 ✓ sig. |
| TLR3-mediated TICAM1-dependent programmed cell death | Reactome | 1 / 6 | 250× | 3.99e-3 | 3.77e-2 ✓ sig. |
| FGFR1b ligand binding and activation | Reactome | 1 / 6 | 250× | 3.99e-3 | 3.77e-2 ✓ sig. |
| TRAIL signaling | Reactome | 1 / 8 | 188× | 5.32e-3 | 4.56e-2 ✓ sig. |
| Multifunctional anion exchangers | Reactome | 1 / 9 | 167× | 5.98e-3 | 4.92e-2 ✓ sig. |
| TRIF-mediated programmed cell death | Reactome | 1 / 10 | 150× | 6.64e-3 | 5.28e-2 |
| FGFR2b ligand binding and activation | Reactome | 1 / 10 | 150× | 6.64e-3 | 5.28e-2 |
| Regulation by c-FLIP | Reactome | 1 / 11 | 136× | 7.31e-3 | 5.62e-2 |
| CASP8 activity is inhibited | Reactome | 1 / 11 | 136× | 7.31e-3 | 5.62e-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 ⇵ |
|---|---|---|---|---|---|
| complement activation, lectin pathway | GO:0001867 | 3 / 13 | 539× | 1.47e-8 | 2.39e-6 ✓ sig. |
| positive regulation of opsonization | GO:1903028 | 2 / 9 | 519× | 5.76e-6 | 3.36e-4 ✓ sig. |
| cell surface pattern recognition receptor signaling pathway | GO:0002752 | 2 / 11 | 425× | 8.80e-6 | 4.73e-4 ✓ sig. |
| complement activation | GO:0006956 | 2 / 35 | 133× | 9.48e-5 | 2.90e-3 ✓ sig. |
| right ventricular compact myocardium morphogenesis | GO:0003226 | 1 / 1 | 2,336× | 4.28e-4 | 8.59e-3 ✓ sig. |
| positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation | GO:2000454 | 1 / 1 | 2,336× | 4.28e-4 | 8.59e-3 ✓ sig. |
| negative regulation of cardiac muscle tissue development | GO:0055026 | 1 / 2 | 1,168× | 8.56e-4 | 1.36e-2 ✓ sig. |
| death-inducing signaling complex assembly | GO:0071550 | 1 / 2 | 1,168× | 8.56e-4 | 1.36e-2 ✓ sig. |
| regulation of growth hormone secretion | GO:0060123 | 1 / 3 | 779× | 1.28e-3 | 1.75e-2 ✓ sig. |
| olfactory nerve development | GO:0021553 | 1 / 3 | 779× | 1.28e-3 | 1.75e-2 ✓ sig. |
| negative regulation of activation-induced cell death of T cells | GO:0070236 | 1 / 3 | 779× | 1.28e-3 | 1.75e-2 ✓ sig. |
| innate immune response | GO:0045087 | 3 / 605 | 11.6× | 1.67e-3 | 2.05e-2 ✓ sig. |
| cranial nerve development | GO:0021545 | 1 / 4 | 584× | 1.71e-3 | 2.07e-2 ✓ sig. |
| proteolysis | GO:0006508 | 3 / 613 | 11.4× | 1.74e-3 | 2.09e-2 ✓ sig. |
| negative regulation of complement activation | GO:0045916 | 1 / 5 | 467× | 2.14e-3 | 2.34e-2 ✓ sig. |