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 228
7
Diseases
79
Unique genes
0.136
Avg. similarity score
Dravet syndrome
Most-connected disease (5 links)
Disease
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Dravet syndrome
Febrile convulsion
Generalized epilepsy with febrile seizures plus
Rolandic epilepsy
Lennox-gastaut syndrome
Female restricted epilepsy with intellectual disability
Cranio-cervical dystonia
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Dravet syndrome | 5 | 5 | 8 |
| Febrile convulsion | 5 | 5 | 22 |
| Generalized epilepsy with febrile seizures plus | 4 | 4 | 16 |
| Rolandic epilepsy | 4 | 4 | 47 |
| Lennox-gastaut syndrome | 3 | 3 | 12 |
| Female restricted epilepsy with intellectual disability | 2 | 2 | 1 |
| Cranio-cervical dystonia | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| GABRG2 | 5 / 7 | Dravet syndrome, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Lennox-gastaut syndrome and 1 more |
| SCN1A | 5 / 7 | Dravet syndrome, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Lennox-gastaut syndrome and 1 more |
| SCN2A | 5 / 7 | Dravet syndrome, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Lennox-gastaut syndrome and 1 more |
| SCN1B | 4 / 7 | Dravet syndrome, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Rolandic epilepsy |
| SCN9A | 4 / 7 | Dravet syndrome, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Rolandic epilepsy |
| CPA6 | 3 / 7 | Febrile convulsion, Generalized epilepsy with febrile seizures plus, Rolandic epilepsy |
| PCDH19 | 3 / 7 | Dravet syndrome, Female restricted epilepsy with intellectual disability, Rolandic epilepsy |
| ADGRV1 | 2 / 7 | Febrile convulsion, Generalized epilepsy with febrile seizures plus |
| ANO3 | 2 / 7 | Cranio-cervical dystonia, Febrile convulsion |
| CHD2 | 2 / 7 | Lennox-gastaut syndrome, Rolandic epilepsy |
| HCN1 | 2 / 7 | Febrile convulsion, Generalized epilepsy with febrile seizures plus |
| RELN | 2 / 7 | Generalized epilepsy with febrile seizures plus, Rolandic epilepsy |
| STX1B | 2 / 7 | Febrile convulsion, Generalized epilepsy with febrile seizures plus |
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 ⇵ |
|---|---|---|---|---|---|
| Nicotine addiction | KEGG | 8 / 41 | 29.7× | 1.96e-10 | 2.64e-8 ✓ sig. |
| Phase 0 - rapid depolarisation | Reactome | 6 / 44 | 20.7× | 3.87e-7 | 2.14e-5 ✓ sig. |
| Synaptic vesicle cycle | KEGG | 7 / 79 | 13.5× | 8.06e-7 | 4.05e-5 ✓ sig. |
| GABAergic synapse | KEGG | 7 / 89 | 12.0× | 1.82e-6 | 8.11e-5 ✓ sig. |
| Retrograde endocannabinoid signaling | KEGG | 8 / 149 | 8.2× | 5.76e-6 | 2.13e-4 ✓ sig. |
| Morphine addiction | KEGG | 6 / 91 | 10.0× | 2.86e-5 | 8.00e-4 ✓ sig. |
| GABA receptor activation | Reactome | 3 / 16 | 28.5× | 1.44e-4 | 3.02e-3 ✓ sig. |
| Taste transduction | KEGG | 5 / 86 | 8.8× | 2.49e-4 | 4.63e-3 ✓ sig. |
| HCN channels | Reactome | 2 / 4 | 76.0× | 2.54e-4 | 4.70e-3 ✓ sig. |
| Spinocerebellar ataxia | KEGG | 6 / 144 | 6.3× | 3.63e-4 | 6.21e-3 ✓ sig. |
| Assembly and cell surface presentation of NMDA receptors | Reactome | 2 / 6 | 50.7× | 6.30e-4 | 9.55e-3 ✓ sig. |
| Cholinergic synapse | KEGG | 5 / 115 | 6.6× | 9.46e-4 | 1.30e-2 ✓ sig. |
| Dopaminergic synapse | KEGG | 5 / 132 | 5.8× | 1.75e-3 | 2.07e-2 ✓ sig. |
| GABA synthesis, release, reuptake and degradation | Reactome | 2 / 13 | 23.4× | 3.18e-3 | 3.21e-2 ✓ sig. |
| Regulation of insulin secretion | Reactome | 2 / 16 | 19.0× | 4.83e-3 | 4.29e-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 ⇵ |
|---|---|---|---|---|---|
| monoatomic ion transmembrane transport | GO:0034220 | 18 / 404 | 10.5× | 6.02e-14 | 3.45e-11 ✓ sig. |
| monoatomic ion transport | GO:0006811 | 19 / 667 | 6.7× | 2.91e-11 | 9.50e-9 ✓ sig. |
| sodium ion transmembrane transport | GO:0035725 | 10 / 134 | 17.7× | 2.42e-10 | 6.33e-8 ✓ sig. |
| positive regulation of excitatory postsynaptic potential | GO:2000463 | 6 / 32 | 44.4× | 3.91e-9 | 7.50e-7 ✓ sig. |
| neuronal action potential | GO:0019228 | 6 / 34 | 41.7× | 5.76e-9 | 1.06e-6 ✓ sig. |
| chloride transmembrane transport | GO:1902476 | 8 / 114 | 16.6× | 2.72e-8 | 4.06e-6 ✓ sig. |
| cardiac muscle cell action potential involved in contraction | GO:0086002 | 5 / 24 | 49.3× | 4.74e-8 | 6.49e-6 ✓ sig. |
| sodium ion transport | GO:0006814 | 8 / 144 | 13.1× | 1.68e-7 | 1.87e-5 ✓ sig. |
| regulation of postsynaptic membrane potential | GO:0060078 | 6 / 59 | 24.1× | 1.77e-7 | 1.96e-5 ✓ sig. |
| learning | GO:0007612 | 6 / 64 | 22.2× | 2.90e-7 | 2.97e-5 ✓ sig. |
| chemical synaptic transmission | GO:0007268 | 9 / 236 | 9.0× | 6.70e-7 | 5.98e-5 ✓ sig. |
| brain development | GO:0007420 | 9 / 244 | 8.7× | 8.85e-7 | 7.49e-5 ✓ sig. |
| regulation of membrane potential | GO:0042391 | 6 / 85 | 16.7× | 1.58e-6 | 1.19e-4 ✓ sig. |
| memory | GO:0007613 | 6 / 87 | 16.3× | 1.81e-6 | 1.33e-4 ✓ sig. |
| inhibitory synapse assembly | GO:1904862 | 4 / 25 | 37.8× | 3.50e-6 | 2.26e-4 ✓ sig. |