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 337
6
Diseases
33
Unique genes
0.188
Avg. similarity score
Infantile spasms
Most-connected disease (4 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.
Infantile spasms
West syndrome
Beta-ureidopropionase deficiency
Cryptogenic west syndrome
Epilepsy due to perinatal stroke
medium chain acyl-coa dehydrogenase deficiency
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Infantile spasms | 4 | 4 | 11 |
| West syndrome | 4 | 4 | 30 |
| Beta-ureidopropionase deficiency | 3 | 3 | 1 |
| Cryptogenic west syndrome | 3 | 3 | 8 |
| Epilepsy due to perinatal stroke | 1 | 1 | 1 |
| medium chain acyl-coa dehydrogenase deficiency | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| UPB1 | 4 / 6 | Beta-ureidopropionase deficiency, Cryptogenic west syndrome, Infantile spasms, West syndrome |
| CRH | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| HSD17B4 | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| MC2R | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| POMC | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| STXBP1 | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| TSC1 | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| TSC2 | 3 / 6 | Cryptogenic west syndrome, Infantile spasms, West syndrome |
| ACADM | 2 / 6 | Infantile spasms, medium chain acyl-coa dehydrogenase deficiency |
| ST3GAL3 | 2 / 6 | Epilepsy due to perinatal stroke, West 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 ⇵ |
|---|---|---|---|---|---|
| Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) | Reactome | 2 / 2 | 364× | 7.32e-6 | 2.58e-4 ✓ sig. |
| Inhibition of TSC complex formation by PKB | Reactome | 2 / 3 | 243× | 2.19e-5 | 6.44e-4 ✓ sig. |
| Phase 0 - rapid depolarisation | Reactome | 3 / 44 | 24.8× | 2.32e-4 | 4.39e-3 ✓ sig. |
| Phospholipase D signaling pathway | KEGG | 4 / 149 | 9.8× | 7.04e-4 | 1.04e-2 ✓ sig. |
| Cortisol synthesis and secretion | KEGG | 3 / 65 | 16.8× | 7.35e-4 | 1.08e-2 ✓ sig. |
| Cushing syndrome | KEGG | 4 / 155 | 9.4× | 8.16e-4 | 1.17e-2 ✓ sig. |
| Macroautophagy | Reactome | 3 / 68 | 16.1× | 8.39e-4 | 1.19e-2 ✓ sig. |
| Aldosterone synthesis and secretion | KEGG | 3 / 98 | 11.1× | 2.41e-3 | 2.62e-2 ✓ sig. |
| Energy dependent regulation of mTOR by LKB1-AMPK | Reactome | 2 / 29 | 25.1× | 2.84e-3 | 2.95e-2 ✓ sig. |
| Hormone signaling | KEGG | 4 / 219 | 6.6× | 2.91e-3 | 3.01e-2 ✓ sig. |
| cAMP signaling pathway | KEGG | 4 / 226 | 6.4× | 3.26e-3 | 3.26e-2 ✓ sig. |
| ADORA2B mediated anti-inflammatory cytokines production | Reactome | 3 / 128 | 8.5× | 5.11e-3 | 4.44e-2 ✓ sig. |
| Recycling pathway of L1 | Reactome | 2 / 40 | 18.2× | 5.35e-3 | 4.57e-2 ✓ sig. |
| Peptide hormone biosynthesis | Reactome | 1 / 2 | 182× | 5.49e-3 | 4.65e-2 ✓ sig. |
| Dopaminergic synapse | KEGG | 3 / 132 | 8.3× | 5.57e-3 | 4.70e-2 ✓ sig. |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| cerebral cortex development | GO:0021987 | 5 / 88 | 32.2× | 4.42e-7 | 4.21e-5 ✓ sig. |
| action potential | GO:0001508 | 4 / 53 | 42.7× | 2.22e-6 | 1.57e-4 ✓ sig. |
| cardiac muscle cell action potential involved in contraction | GO:0086002 | 3 / 24 | 70.8× | 9.90e-6 | 5.18e-4 ✓ sig. |
| cardiac muscle cell differentiation | GO:0055007 | 3 / 30 | 56.6× | 1.97e-5 | 8.88e-4 ✓ sig. |
| neuron apoptotic process | GO:0051402 | 4 / 98 | 23.1× | 2.59e-5 | 1.09e-3 ✓ sig. |
| neuron migration | GO:0001764 | 4 / 132 | 17.2× | 8.30e-5 | 2.63e-3 ✓ sig. |
| neuronal action potential propagation | GO:0019227 | 2 / 11 | 103× | 1.65e-4 | 4.39e-3 ✓ sig. |
| anoikis | GO:0043276 | 2 / 12 | 94.4× | 1.97e-4 | 5.01e-3 ✓ sig. |
| long-term synaptic potentiation | GO:0060291 | 3 / 71 | 23.9× | 2.64e-4 | 6.15e-3 ✓ sig. |
| myelination | GO:0042552 | 3 / 73 | 23.3× | 2.87e-4 | 6.50e-3 ✓ sig. |
| locomotory exploration behavior | GO:0035641 | 2 / 16 | 70.8× | 3.57e-4 | 7.55e-3 ✓ sig. |
| memory | GO:0007613 | 3 / 87 | 19.5× | 4.81e-4 | 9.31e-3 ✓ sig. |
| glutamate receptor signaling pathway | GO:0007215 | 2 / 19 | 59.6× | 5.08e-4 | 9.66e-3 ✓ sig. |
| cellular response to starvation | GO:0009267 | 3 / 90 | 18.9× | 5.31e-4 | 9.98e-3 ✓ sig. |
| monoatomic ion transmembrane transport | GO:0034220 | 5 / 404 | 7.0× | 6.64e-4 | 1.15e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Cryptogenic west syndrome | Infantile spasms | 0.667 | 8 | 2.11e-27 | 6.13e-26 ✓ sig. |
| Cryptogenic west syndrome | West syndrome | 0.258 | 8 | 7.48e-23 | 1.70e-21 ✓ sig. |
| Infantile spasms | West syndrome | 0.235 | 8 | 1.23e-20 | 2.56e-19 ✓ sig. |
| Beta-ureidopropionase deficiency | Cryptogenic west syndrome | 0.111 | 1 | 5.20e-4 | 1.04e-3 ✓ sig. |
| Beta-ureidopropionase deficiency | Infantile spasms | 0.083 | 1 | 7.14e-4 | 1.31e-3 ✓ sig. |
| Infantile spasms | medium chain acyl-coa dehydrogenase deficiency | 0.083 | 1 | 7.14e-4 | 1.31e-3 ✓ sig. |
| Beta-ureidopropionase deficiency | West syndrome | 0.032 | 1 | 1.95e-3 | 2.81e-3 ✓ sig. |
| Epilepsy due to perinatal stroke | West syndrome | 0.032 | 1 | 1.95e-3 | 2.81e-3 ✓ sig. |