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 461
6
Diseases
13
Unique genes
0.179
Avg. similarity score
Congenital contracture
Most-connected disease (3 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.
Congenital contracture
Epileptic encephalopathy, early infantile, 69
Macrocephaly
Van der woude syndrome
Snijders blok-campeau syndrome
Van den ende-gupta syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Congenital contracture | 3 | 3 | 1 |
| Epileptic encephalopathy, early infantile, 69 | 3 | 3 | 1 |
| Macrocephaly | 3 | 3 | 7 |
| Van der woude syndrome | 3 | 3 | 7 |
| Snijders blok-campeau syndrome | 1 | 1 | 1 |
| Van den ende-gupta syndrome | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| CACNA1E | 4 / 6 | Congenital contracture, Epileptic encephalopathy, early infantile, 69, Macrocephaly, Van der woude syndrome |
| CHD3 | 2 / 6 | Macrocephaly, Snijders blok-campeau syndrome |
| SCARF2 | 2 / 6 | Van den ende-gupta syndrome, Van der woude 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 ⇵ |
|---|---|---|---|---|---|
| Peptide chain elongation | Reactome | 1 / 1 | 924× | 1.08e-3 | 1.20e-2 ✓ sig. |
| Uptake and function of diphtheria toxin | Reactome | 1 / 6 | 154× | 6.48e-3 | 4.32e-2 ✓ sig. |
| Synthesis of diphthamide-EEF2 | Reactome | 1 / 7 | 132× | 7.55e-3 | 4.77e-2 ✓ sig. |
| Tight junction interactions | Reactome | 1 / 8 | 115× | 8.63e-3 | 5.19e-2 |
| Presynaptic depolarization and calcium channel opening | Reactome | 1 / 12 | 77.0× | 1.29e-2 | 6.62e-2 |
| p75NTR recruits signalling complexes | Reactome | 1 / 13 | 71.1× | 1.40e-2 | 6.97e-2 |
| Regulation of insulin secretion | Reactome | 1 / 16 | 57.7× | 1.72e-2 | 7.86e-2 |
| Protein methylation | Reactome | 1 / 19 | 48.6× | 2.04e-2 | 8.67e-2 |
| Regulation of TP53 Activity through Acetylation | Reactome | 1 / 23 | 40.2× | 2.46e-2 | 9.67e-2 |
| SUMOylation of intracellular receptors | Reactome | 1 / 27 | 34.2× | 2.88e-2 | 1.06e-1 |
| Pre-NOTCH Transcription and Translation | Reactome | 1 / 31 | 29.8× | 3.31e-2 | 1.14e-1 |
| RNA Polymerase I Transcription Initiation | Reactome | 1 / 45 | 20.5× | 4.77e-2 | 1.41e-1 |
| Type II diabetes mellitus | KEGG | 1 / 47 | 19.7× | 4.97e-2 | 1.44e-1 |
| Nuclear Receptor transcription pathway | Reactome | 1 / 52 | 17.8× | 5.49e-2 | 1.52e-1 |
| Regulation of PTEN gene transcription | Reactome | 1 / 53 | 17.4× | 5.59e-2 | 1.54e-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 ⇵ |
|---|---|---|---|---|---|
| regulation of myeloid cell apoptotic process | GO:0033032 | 1 / 1 | 1,437× | 6.96e-4 | 1.18e-2 ✓ sig. |
| translation at postsynapse | GO:0140242 | 1 / 1 | 1,437× | 6.96e-4 | 1.18e-2 ✓ sig. |
| negative regulation of DNA-templated transcription initiation | GO:2000143 | 1 / 2 | 719× | 1.39e-3 | 1.75e-2 ✓ sig. |
| negative regulation of RNA polymerase II transcription preinitiation complex assembly | GO:0017055 | 1 / 2 | 719× | 1.39e-3 | 1.75e-2 ✓ sig. |
| female courtship behavior | GO:0008050 | 1 / 2 | 719× | 1.39e-3 | 1.75e-2 ✓ sig. |
| positive regulation of female receptivity | GO:0045925 | 1 / 3 | 479× | 2.09e-3 | 2.17e-2 ✓ sig. |
| positive regulation of thyroid hormone receptor signaling pathway | GO:0002157 | 1 / 3 | 479× | 2.09e-3 | 2.17e-2 ✓ sig. |
| thyroid hormone receptor signaling pathway | GO:0002154 | 1 / 3 | 479× | 2.09e-3 | 2.17e-2 ✓ sig. |
| regulation of lipid catabolic process | GO:0050994 | 1 / 3 | 479× | 2.09e-3 | 2.17e-2 ✓ sig. |
| Golgi vesicle budding | GO:0048194 | 1 / 4 | 359× | 2.78e-3 | 2.51e-2 ✓ sig. |
| regulation of transcription by RNA polymerase II | GO:0006357 | 5 / 1,602 | 4.5× | 3.30e-3 | 2.74e-2 ✓ sig. |
| cellular response to chemical stress | GO:0062197 | 1 / 5 | 287× | 3.47e-3 | 2.81e-2 ✓ sig. |
| establishment of apical/basal cell polarity | GO:0035089 | 1 / 5 | 287× | 3.47e-3 | 2.81e-2 ✓ sig. |
| regulation of thyroid hormone receptor signaling pathway | GO:0002155 | 1 / 5 | 287× | 3.47e-3 | 2.81e-2 ✓ sig. |
| inner cell mass cell differentiation | GO:0001826 | 1 / 6 | 240× | 4.17e-3 | 3.06e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Congenital contracture | Epileptic encephalopathy, early infantile, 69 | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Congenital contracture | Van der woude syndrome | 0.125 | 1 | 4.52e-4 | 8.26e-4 ✓ sig. |
| Congenital contracture | Macrocephaly | 0.125 | 1 | 4.52e-4 | 8.26e-4 ✓ sig. |
| Epileptic encephalopathy, early infantile, 69 | Van der woude syndrome | 0.125 | 1 | 4.52e-4 | 8.26e-4 ✓ sig. |
| Epileptic encephalopathy, early infantile, 69 | Macrocephaly | 0.125 | 1 | 4.52e-4 | 8.26e-4 ✓ sig. |
| Macrocephaly | Snijders blok-campeau syndrome | 0.125 | 1 | 4.52e-4 | 8.26e-4 ✓ sig. |
| Van den ende-gupta syndrome | Van der woude syndrome | 0.125 | 1 | 4.52e-4 | 8.26e-4 ✓ sig. |