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 430
5
Diseases
5
Unique genes
0.314
Avg. similarity score
Horizontal gaze palsy with progressive scoliosis
Most-connected disease (4 links)
Disease
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Horizontal gaze palsy with progressive scoliosis
Congenital mirror movements
Mirror movements
mirror movements 1 and/or agenesis of the corpus callosum
gaze palsy, familial horizontal, with progressive scoliosis 1
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Horizontal gaze palsy with progressive scoliosis | 4 | 4 | 2 |
| Congenital mirror movements | 3 | 3 | 4 |
| Mirror movements | 3 | 3 | 4 |
| mirror movements 1 and/or agenesis of the corpus callosum | 3 | 3 | 1 |
| gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| DCC | 4 / 5 | Congenital mirror movements, Horizontal gaze palsy with progressive scoliosis, Mirror movements, mirror movements 1 and/or agenesis of the corpus callosum |
| DNAL4 | 2 / 5 | Congenital mirror movements, Mirror movements |
| NTN1 | 2 / 5 | Congenital mirror movements, Mirror movements |
| RAD51 | 2 / 5 | Congenital mirror movements, Mirror movements |
| ROBO3 | 2 / 5 | gaze palsy, familial horizontal, with progressive scoliosis 1, Horizontal gaze palsy with progressive scoliosis |
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 ⇵ |
|---|---|---|---|---|---|
| Netrin-1 signaling | Reactome | 2 / 8 | 601× | 3.88e-6 | 1.55e-4 ✓ sig. |
| DCC mediated attractive signaling | Reactome | 2 / 11 | 437× | 7.62e-6 | 2.67e-4 ✓ sig. |
| Axon guidance | KEGG | 3 / 183 | 39.4× | 3.40e-5 | 9.29e-4 ✓ sig. |
| ROBO receptors bind AKAP5 | Reactome | 1 / 3 | 801× | 1.25e-3 | 1.60e-2 ✓ sig. |
| Regulation of commissural axon pathfinding by SLIT and ROBO | Reactome | 1 / 3 | 801× | 1.25e-3 | 1.60e-2 ✓ sig. |
| Caspase activation via Dependence Receptors in the absence of ligand | Reactome | 1 / 4 | 601× | 1.66e-3 | 2.00e-2 ✓ sig. |
| Retrograde neurotrophin signalling | Reactome | 1 / 11 | 218× | 4.57e-3 | 4.13e-2 ✓ sig. |
| Homologous DNA Pairing and Strand Exchange | Reactome | 1 / 25 | 96.1× | 1.04e-2 | 7.02e-2 |
| Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | Reactome | 1 / 26 | 92.4× | 1.08e-2 | 7.19e-2 |
| Resolution of D-loop Structures through Holliday Junction Intermediates | Reactome | 1 / 33 | 72.8× | 1.37e-2 | 8.23e-2 |
| Transcriptional Regulation by E2F6 | Reactome | 1 / 35 | 68.6× | 1.45e-2 | 8.53e-2 |
| HDR through Single Strand Annealing (SSA) | Reactome | 1 / 37 | 64.9× | 1.53e-2 | 8.81e-2 |
| Presynaptic phase of homologous DNA pairing and strand exchange | Reactome | 1 / 39 | 61.6× | 1.61e-2 | 9.11e-2 |
| Homologous recombination | KEGG | 1 / 41 | 58.6× | 1.70e-2 | 9.40e-2 |
| Pathways in cancer | KEGG | 2 / 533 | 9.0× | 1.80e-2 | 9.72e-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 ⇵ |
|---|---|---|---|---|---|
| anterior/posterior axon guidance | GO:0033564 | 2 / 5 | 1,495× | 5.73e-7 | 5.25e-5 ✓ sig. |
| neuron migration | GO:0001764 | 3 / 132 | 84.9× | 3.41e-6 | 2.21e-4 ✓ sig. |
| axon guidance | GO:0007411 | 3 / 192 | 58.4× | 1.05e-5 | 5.42e-4 ✓ sig. |
| response to glucoside | GO:1904631 | 1 / 1 | 3,737× | 2.68e-4 | 6.20e-3 ✓ sig. |
| regulation of glial cell migration | GO:1903975 | 1 / 1 | 3,737× | 2.68e-4 | 6.20e-3 ✓ sig. |
| axonogenesis | GO:0007409 | 2 / 125 | 59.8× | 4.38e-4 | 8.72e-3 ✓ sig. |
| mitotic recombination-dependent replication fork processing | GO:1990426 | 1 / 2 | 1,869× | 5.35e-4 | 9.98e-3 ✓ sig. |
| positive regulation of axon guidance | GO:1902669 | 1 / 2 | 1,869× | 5.35e-4 | 9.98e-3 ✓ sig. |
| spinal cord ventral commissure morphogenesis | GO:0021965 | 1 / 3 | 1,246× | 8.03e-4 | 1.30e-2 ✓ sig. |
| dorsal/ventral axon guidance | GO:0033563 | 1 / 3 | 1,246× | 8.03e-4 | 1.30e-2 ✓ sig. |
| negative regulation of negative chemotaxis | GO:0050925 | 1 / 3 | 1,246× | 8.03e-4 | 1.30e-2 ✓ sig. |
| DNA recombinase assembly | GO:0000730 | 1 / 3 | 1,246× | 8.03e-4 | 1.30e-2 ✓ sig. |
| chemorepulsion of axon | GO:0061643 | 1 / 3 | 1,246× | 8.03e-4 | 1.30e-2 ✓ sig. |
| Cdc42 protein signal transduction | GO:0032488 | 1 / 3 | 1,246× | 8.03e-4 | 1.30e-2 ✓ sig. |
| cellular response to cisplatin | GO:0072719 | 1 / 4 | 934× | 1.07e-3 | 1.57e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Congenital mirror movements | Mirror movements | 0.800 | 4 | 4.27e-16 | 6.90e-15 ✓ sig. |
| gaze palsy, familial horizontal, with progressive scoliosis 1 | Horizontal gaze palsy with progressive scoliosis | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Horizontal gaze palsy with progressive scoliosis | mirror movements 1 and/or agenesis of the corpus callosum | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Congenital mirror movements | mirror movements 1 and/or agenesis of the corpus callosum | 0.200 | 1 | 2.60e-4 | 6.40e-4 ✓ sig. |
| Mirror movements | mirror movements 1 and/or agenesis of the corpus callosum | 0.200 | 1 | 2.60e-4 | 6.40e-4 ✓ sig. |
| Congenital mirror movements | Horizontal gaze palsy with progressive scoliosis | 0.167 | 1 | 5.19e-4 | 1.04e-3 ✓ sig. |
| Horizontal gaze palsy with progressive scoliosis | Mirror movements | 0.167 | 1 | 5.19e-4 | 1.04e-3 ✓ sig. |