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 503
6
Diseases
4
Unique genes
0.381
Avg. similarity score
Episodic ataxia type 1
Most-connected disease (5 links)
Disease
Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Episodic ataxia type 1
Hereditary continuous muscle fiber activity
Myokymia isolated 1
Myokymia with periodic ataxia
Episodic kinesigenic dyskinesia
Myokymia
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Episodic ataxia type 1 | 5 | 5 | 1 |
| Hereditary continuous muscle fiber activity | 5 | 5 | 1 |
| Myokymia isolated 1 | 5 | 5 | 1 |
| Myokymia with periodic ataxia | 5 | 5 | 1 |
| Episodic kinesigenic dyskinesia | 4 | 4 | 3 |
| Myokymia | 4 | 4 | 2 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| KCNA1 | 6 / 6 | Episodic ataxia type 1, Episodic kinesigenic dyskinesia, Hereditary continuous muscle fiber activity, Myokymia and 2 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 ⇵ |
|---|---|---|---|---|---|
| Voltage gated Potassium channels | Reactome | 2 / 43 | 140× | 7.48e-5 | 1.50e-3 ✓ sig. |
| Cholinergic synapse | KEGG | 1 / 115 | 26.1× | 3.78e-2 | 1.23e-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 ⇵ |
|---|---|---|---|---|---|
| action potential | GO:0001508 | 2 / 53 | 176× | 4.72e-5 | 1.77e-3 ✓ sig. |
| negative regulation of short-term synaptic potentiation | GO:1905513 | 1 / 1 | 4,672× | 2.14e-4 | 5.31e-3 ✓ sig. |
| potassium ion transmembrane transport | GO:0071805 | 2 / 150 | 62.3× | 3.80e-4 | 7.89e-3 ✓ sig. |
| potassium ion transport | GO:0006813 | 2 / 152 | 61.5× | 3.90e-4 | 8.04e-3 ✓ sig. |
| regulation of calcium-dependent activation of synaptic vesicle fusion | GO:0150037 | 1 / 2 | 2,336× | 4.28e-4 | 8.53e-3 ✓ sig. |
| negative regulation of SNARE complex assembly | GO:0035544 | 1 / 2 | 2,336× | 4.28e-4 | 8.53e-3 ✓ sig. |
| detection of mechanical stimulus involved in sensory perception of touch | GO:0050976 | 1 / 4 | 1,168× | 8.56e-4 | 1.33e-2 ✓ sig. |
| cellular response to magnesium ion | GO:0071286 | 1 / 7 | 667× | 1.50e-3 | 1.82e-2 ✓ sig. |
| neuronal signal transduction | GO:0023041 | 1 / 7 | 667× | 1.50e-3 | 1.82e-2 ✓ sig. |
| cell communication by electrical coupling | GO:0010644 | 1 / 7 | 667× | 1.50e-3 | 1.82e-2 ✓ sig. |
| magnesium ion homeostasis | GO:0010960 | 1 / 8 | 584× | 1.71e-3 | 1.96e-2 ✓ sig. |
| membrane repolarization during action potential | GO:0086011 | 1 / 10 | 467× | 2.14e-3 | 2.19e-2 ✓ sig. |
| synaptic vesicle fusion to presynaptic active zone membrane | GO:0031629 | 1 / 10 | 467× | 2.14e-3 | 2.19e-2 ✓ sig. |
| monoatomic ion transmembrane transport | GO:0034220 | 2 / 404 | 23.1× | 2.72e-3 | 2.48e-2 ✓ sig. |
| detection of mechanical stimulus involved in sensory perception of pain | GO:0050966 | 1 / 14 | 334× | 2.99e-3 | 2.59e-2 ✓ sig. |