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 620
5
Diseases
2
Unique genes
0.433
Avg. similarity score
Congenital epileptic encephalopathy and severe neuromuscular disorder
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.
Congenital epileptic encephalopathy and severe neuromuscular disorder
Congenital nervous system disorder
Neurodevelopmental disorder with ataxia and tremor or dyskinetic movements
Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Congenital epileptic encephalopathy and severe neuromuscular disorder | 4 | 4 | 1 |
| Congenital nervous system disorder | 4 | 4 | 2 |
| Neurodevelopmental disorder with ataxia and tremor or dyskinetic movements | 4 | 4 | 1 |
| Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech | 4 | 4 | 1 |
| Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures | 4 | 4 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| UNC13A | 5 / 5 | Congenital epileptic encephalopathy and severe neuromuscular disorder, Congenital nervous system disorder, Neurodevelopmental disorder with ataxia and tremor or dyskinetic movements, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech and 1 more |
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 ⇵ |
|---|---|---|---|---|---|
| MicroRNA (miRNA) biogenesis | Reactome | 1 / 24 | 250× | 3.99e-3 | 3.12e-2 ✓ sig. |
| Synaptic vesicle cycle | KEGG | 1 / 79 | 76.0× | 1.31e-2 | 6.70e-2 |
| Ribosome biogenesis in eukaryotes | KEGG | 1 / 125 | 48.0× | 2.07e-2 | 8.77e-2 |
| Proteoglycans in cancer | KEGG | 1 / 204 | 29.4× | 3.37e-2 | 1.15e-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 ⇵ |
|---|---|---|---|---|---|
| neuronal dense core vesicle exocytosis | GO:0099011 | 1 / 2 | 4,672× | 2.14e-4 | 5.31e-3 ✓ sig. |
| dense core granule priming | GO:0061789 | 1 / 3 | 3,115× | 3.21e-4 | 7.04e-3 ✓ sig. |
| regulation of miRNA metabolic process | GO:2000628 | 1 / 3 | 3,115× | 3.21e-4 | 7.04e-3 ✓ sig. |
| regulation of regulatory T cell differentiation | GO:0045589 | 1 / 8 | 1,168× | 8.56e-4 | 1.33e-2 ✓ sig. |
| miRNA metabolic process | GO:0010586 | 1 / 12 | 779× | 1.28e-3 | 1.67e-2 ✓ sig. |
| synaptic vesicle docking | GO:0016081 | 1 / 13 | 719× | 1.39e-3 | 1.75e-2 ✓ sig. |
| primary miRNA processing | GO:0031053 | 1 / 13 | 719× | 1.39e-3 | 1.75e-2 ✓ sig. |
| pre-miRNA processing | GO:0031054 | 1 / 14 | 667× | 1.50e-3 | 1.82e-2 ✓ sig. |
| miRNA processing | GO:0035196 | 1 / 17 | 550× | 1.82e-3 | 2.02e-2 ✓ sig. |
| synaptic vesicle priming | GO:0016082 | 1 / 19 | 492× | 2.03e-3 | 2.14e-2 ✓ sig. |
| positive regulation of dendrite extension | GO:1903861 | 1 / 23 | 406× | 2.46e-3 | 2.36e-2 ✓ sig. |
| neurotransmitter secretion | GO:0007269 | 1 / 29 | 322× | 3.10e-3 | 2.65e-2 ✓ sig. |
| regulation of synaptic transmission, glutamatergic | GO:0051966 | 1 / 33 | 283× | 3.53e-3 | 2.82e-2 ✓ sig. |
| synaptic transmission, glutamatergic | GO:0035249 | 1 / 45 | 208× | 4.81e-3 | 3.27e-2 ✓ sig. |
| regulatory ncRNA-mediated gene silencing | GO:0031047 | 1 / 65 | 144× | 6.94e-3 | 3.91e-2 ✓ sig. |