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 223
7
Diseases
373
Unique genes
0.085
Avg. similarity score
Epilepsy
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.
Epilepsy
Partial epilepsy
Seizures
Generalized epilepsy
developmental and epileptic encephalopathy, 77
Congenital cataract hearing loss developmental delay syndrome
seizures, early-onset, with neurodegeneration and brain calcifications
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Epilepsy | 4 | 4 | 233 |
| Partial epilepsy | 3 | 3 | 44 |
| Seizures | 3 | 3 | 141 |
| Generalized epilepsy | 2 | 2 | 65 |
| developmental and epileptic encephalopathy, 77 | 2 | 2 | 1 |
| Congenital cataract hearing loss developmental delay syndrome | 1 | 1 | 2 |
| seizures, early-onset, with neurodegeneration and brain calcifications | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| SCN1A | 4 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy, Seizures |
| ADGRL3 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| ALDH2 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| BRAP | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| CAMSAP2 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| CDKL5 | 3 / 7 | Epilepsy, Partial epilepsy, Seizures |
| CHRNA7 | 3 / 7 | Epilepsy, Generalized epilepsy, Seizures |
| CNEP1R1 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| CUX2 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| EXT1 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| GABRA2 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| GABRG1 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| GBF1 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| GOLIM4 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| GRM3 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| HTR1A | 3 / 7 | Epilepsy, Generalized epilepsy, Seizures |
| MECP2 | 3 / 7 | Epilepsy, Partial epilepsy, Seizures |
| MMP8 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| NAA25 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| OGA | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| PCDH7 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| PIGQ | 3 / 7 | developmental and epileptic encephalopathy, 77, Epilepsy, Seizures |
| POLG | 3 / 7 | Epilepsy, Generalized epilepsy, Seizures |
| RBFOX1 | 3 / 7 | Epilepsy, Generalized epilepsy, Seizures |
| RPH3A | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| SCN2A | 3 / 7 | Epilepsy, Partial epilepsy, Seizures |
| SCN8A | 3 / 7 | Epilepsy, Partial epilepsy, Seizures |
| STX1B | 3 / 7 | Epilepsy, Generalized epilepsy, Seizures |
| TNKS | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| TRIM36 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| VRK2 | 3 / 7 | Epilepsy, Generalized epilepsy, Partial epilepsy |
| ACHE | 2 / 7 | Epilepsy, Seizures |
| ALDH7A1 | 2 / 7 | Epilepsy, Seizures |
| ATP1A3 | 2 / 7 | Epilepsy, Seizures |
| AUTS2 | 2 / 7 | Epilepsy, Generalized epilepsy |
| BCHE | 2 / 7 | Epilepsy, Seizures |
| BDNF | 2 / 7 | Epilepsy, Seizures |
| C1ORF94 | 2 / 7 | Epilepsy, Generalized epilepsy |
| CACNA1H | 2 / 7 | Epilepsy, Partial epilepsy |
| CACNB4 | 2 / 7 | Epilepsy, Generalized epilepsy |
| CDK5RAP3 | 2 / 7 | Epilepsy, Generalized epilepsy |
| CHRM1 | 2 / 7 | Epilepsy, Seizures |
| CHRM3 | 2 / 7 | Epilepsy, Generalized epilepsy |
| CPA6 | 2 / 7 | Epilepsy, Seizures |
| CRH | 2 / 7 | Epilepsy, Seizures |
| DEPDC5 | 2 / 7 | Epilepsy, Partial epilepsy |
| DIAPH1 | 2 / 7 | Epilepsy, Seizures |
| DYRK1A | 2 / 7 | Epilepsy, Seizures |
| FOS | 2 / 7 | Epilepsy, Seizures |
| FOXG1 | 2 / 7 | Epilepsy, Seizures |
| GABRA1 | 2 / 7 | Epilepsy, Seizures |
| GABRG2 | 2 / 7 | Epilepsy, Seizures |
| GLS | 2 / 7 | Epilepsy, Generalized epilepsy |
| GRIN2A | 2 / 7 | Epilepsy, Partial epilepsy |
| HCN1 | 2 / 7 | Epilepsy, Seizures |
| HPS4 | 2 / 7 | Epilepsy, Generalized epilepsy |
| IQCM | 2 / 7 | Epilepsy, Generalized epilepsy |
| KCNQ2 | 2 / 7 | Epilepsy, Seizures |
| KLHL29 | 2 / 7 | Epilepsy, Generalized epilepsy |
| KRTAP8-1 | 2 / 7 | Epilepsy, Generalized epilepsy |
| MAST4 | 2 / 7 | Epilepsy, Generalized epilepsy |
| NAB1 | 2 / 7 | Epilepsy, Generalized epilepsy |
| NPY | 2 / 7 | Epilepsy, Seizures |
| NRROS | 2 / 7 | Seizures, seizures, early-onset, with neurodegeneration and brain calcifications |
| OPRM1 | 2 / 7 | Epilepsy, Seizures |
| PADI4 | 2 / 7 | Epilepsy, Generalized epilepsy |
| PADI6 | 2 / 7 | Epilepsy, Generalized epilepsy |
| PCDH19 | 2 / 7 | Epilepsy, Seizures |
| PLA2G4A | 2 / 7 | Epilepsy, Generalized epilepsy |
| POMC | 2 / 7 | Epilepsy, Seizures |
| PTPRD | 2 / 7 | Epilepsy, Partial epilepsy |
| PTPRK | 2 / 7 | Epilepsy, Generalized epilepsy |
| SLC12A5 | 2 / 7 | Epilepsy, Seizures |
| SLC1A1 | 2 / 7 | Epilepsy, Seizures |
| SLC2A1 | 2 / 7 | Epilepsy, Seizures |
| SLC33A1 | 2 / 7 | Congenital cataract hearing loss developmental delay syndrome, Partial epilepsy |
| SLC6A1 | 2 / 7 | Epilepsy, Seizures |
| SNAP25 | 2 / 7 | Epilepsy, Partial epilepsy |
| STMND1 | 2 / 7 | Epilepsy, Generalized epilepsy |
| TSC1 | 2 / 7 | Epilepsy, Seizures |
| TSC2 | 2 / 7 | Epilepsy, Seizures |
| ZNF217 | 2 / 7 | Epilepsy, Generalized epilepsy |
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 ⇵ |
|---|---|---|---|---|---|
| Neuroactive ligand-receptor interaction | KEGG | 57 / 370 | 5.0× | 2.16e-24 | 3.67e-21 ✓ sig. |
| Nicotine addiction | KEGG | 18 / 41 | 14.1× | 5.07e-17 | 2.41e-14 ✓ sig. |
| GABAergic synapse | KEGG | 20 / 89 | 7.2× | 2.35e-12 | 4.79e-10 ✓ sig. |
| cAMP signaling pathway | KEGG | 31 / 226 | 4.4× | 2.86e-12 | 5.68e-10 ✓ sig. |
| Retrograde endocannabinoid signaling | KEGG | 24 / 149 | 5.2× | 2.92e-11 | 4.72e-9 ✓ sig. |
| Cholinergic synapse | KEGG | 21 / 115 | 5.9× | 4.51e-11 | 7.03e-9 ✓ sig. |
| Hormone signaling | KEGG | 28 / 219 | 4.1× | 1.82e-10 | 2.48e-8 ✓ sig. |
| Highly calcium permeable postsynaptic nicotinic acetylcholine receptors | Reactome | 8 / 12 | 21.5× | 3.57e-10 | 4.53e-8 ✓ sig. |
| Highly calcium permeable nicotinic acetylcholine receptors | Reactome | 7 / 9 | 25.0× | 9.00e-10 | 1.02e-7 ✓ sig. |
| Glutamatergic synapse | KEGG | 19 / 116 | 5.3× | 2.62e-9 | 2.63e-7 ✓ sig. |
| Calcium signaling pathway | KEGG | 27 / 254 | 3.4× | 2.28e-8 | 1.81e-6 ✓ sig. |
| Taste transduction | KEGG | 15 / 86 | 5.6× | 5.33e-8 | 3.78e-6 ✓ sig. |
| Morphine addiction | KEGG | 15 / 91 | 5.3× | 1.17e-7 | 7.49e-6 ✓ sig. |
| GABA receptor activation | Reactome | 7 / 16 | 14.1× | 2.37e-7 | 1.38e-5 ✓ sig. |
| Phase 0 - rapid depolarisation | Reactome | 10 / 44 | 7.3× | 7.15e-7 | 3.64e-5 ✓ 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 ⇵ |
|---|---|---|---|---|---|
| chemical synaptic transmission | GO:0007268 | 51 / 236 | 10.8× | 4.97e-38 | 4.58e-34 ✓ sig. |
| monoatomic ion transport | GO:0006811 | 72 / 667 | 5.4× | 1.23e-32 | 7.83e-29 ✓ sig. |
| monoatomic ion transmembrane transport | GO:0034220 | 52 / 404 | 6.4× | 3.37e-27 | 1.39e-23 ✓ sig. |
| regulation of postsynaptic membrane potential | GO:0060078 | 20 / 59 | 17.0× | 8.34e-20 | 1.31e-16 ✓ sig. |
| response to nicotine | GO:0035094 | 16 / 40 | 20.0× | 1.87e-17 | 2.09e-14 ✓ sig. |
| excitatory postsynaptic potential | GO:0060079 | 19 / 69 | 13.8× | 5.96e-17 | 5.99e-14 ✓ sig. |
| response to hypoxia | GO:0001666 | 27 / 176 | 7.7× | 1.60e-16 | 1.44e-13 ✓ sig. |
| response to xenobiotic stimulus | GO:0009410 | 31 / 248 | 6.3× | 3.37e-16 | 2.89e-13 ✓ sig. |
| potassium ion transport | GO:0006813 | 24 / 152 | 7.9× | 4.10e-15 | 2.88e-12 ✓ sig. |
| regulation of membrane potential | GO:0042391 | 19 / 85 | 11.2× | 4.10e-15 | 2.88e-12 ✓ sig. |
| nervous system development | GO:0007399 | 45 / 631 | 3.6× | 1.20e-13 | 6.53e-11 ✓ sig. |
| presynaptic modulation of chemical synaptic transmission | GO:0099171 | 13 / 37 | 17.6× | 1.50e-13 | 7.98e-11 ✓ sig. |
| response to ethanol | GO:0045471 | 19 / 110 | 8.7× | 5.90e-13 | 2.84e-10 ✓ sig. |
| synaptic transmission, cholinergic | GO:0007271 | 11 / 25 | 22.0× | 6.01e-13 | 2.87e-10 ✓ sig. |
| locomotory behavior | GO:0007626 | 18 / 99 | 9.1× | 9.70e-13 | 4.48e-10 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Epilepsy | Generalized epilepsy | 0.173 | 44 | 5.37e-66 | 3.88e-64 ✓ sig. |
| Epilepsy | Partial epilepsy | 0.121 | 30 | 3.50e-45 | 1.76e-43 ✓ sig. |
| Generalized epilepsy | Partial epilepsy | 0.236 | 21 | 6.88e-40 | 3.04e-38 ✓ sig. |
| Epilepsy | Seizures | 0.109 | 37 | 8.39e-36 | 3.31e-34 ✓ sig. |
| Congenital cataract hearing loss developmental delay syndrome | Partial epilepsy | 0.022 | 1 | 5.71e-3 | 6.93e-3 ✓ sig. |
| developmental and epileptic encephalopathy, 77 | Seizures | 0.007 | 1 | 9.16e-3 | 1.05e-2 ✓ sig. |
| Seizures | seizures, early-onset, with neurodegeneration and brain calcifications | 0.007 | 1 | 9.16e-3 | 1.05e-2 ✓ sig. |
| developmental and epileptic encephalopathy, 77 | Epilepsy | 0.004 | 1 | 1.51e-2 | 1.68e-2 ✓ sig. |