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 422
5
Diseases
3
Unique genes
0.344
Avg. similarity score
Spinocerebellar ataxia, x-linked
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.
Spinocerebellar ataxia, x-linked
X-linked progressive cerebellar ataxia
Oropharyngeal dysphagia
X-linked non progressive cerebellar ataxia
Charcot-Marie-Tooth disease X-linked dominant 1
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Spinocerebellar ataxia, x-linked | 4 | 4 | 3 |
| X-linked progressive cerebellar ataxia | 4 | 4 | 2 |
| Oropharyngeal dysphagia | 3 | 3 | 1 |
| X-linked non progressive cerebellar ataxia | 3 | 3 | 1 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | 2 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| ATP2B3 | 4 / 5 | Oropharyngeal dysphagia, Spinocerebellar ataxia, x-linked, X-linked non progressive cerebellar ataxia, X-linked progressive cerebellar ataxia |
| GJB1 | 3 / 5 | Charcot-Marie-Tooth disease X-linked dominant 1, Spinocerebellar ataxia, x-linked, X-linked progressive cerebellar ataxia |
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 ⇵ |
|---|---|---|---|---|---|
| Oligomerization of connexins into connexons | Reactome | 1 / 1 | 4,003× | 2.50e-4 | 4.64e-3 ✓ sig. |
| Mitochondrial ABC transporters | Reactome | 1 / 4 | 1,001× | 9.99e-4 | 1.35e-2 ✓ sig. |
| Reduction of cytosolic Ca++ levels | Reactome | 1 / 14 | 286× | 3.49e-3 | 3.42e-2 ✓ sig. |
| Gap junction assembly | Reactome | 1 / 18 | 222× | 4.49e-3 | 4.08e-2 ✓ sig. |
| ABC transporters | KEGG | 1 / 45 | 89.0× | 1.12e-2 | 7.34e-2 |
| Endocrine and other factor-regulated calcium reabsorption | KEGG | 1 / 53 | 75.5× | 1.32e-2 | 8.05e-2 |
| Ion homeostasis | Reactome | 1 / 54 | 74.1× | 1.34e-2 | 8.14e-2 |
| Ion transport by P-type ATPases | Reactome | 1 / 56 | 71.5× | 1.39e-2 | 8.32e-2 |
| Mineral absorption | KEGG | 1 / 61 | 65.6× | 1.52e-2 | 8.75e-2 |
| Salivary secretion | KEGG | 1 / 93 | 43.0× | 2.31e-2 | 1.12e-1 |
| Aldosterone synthesis and secretion | KEGG | 1 / 98 | 40.9× | 2.43e-2 | 1.15e-1 |
| Pancreatic secretion | KEGG | 1 / 102 | 39.2× | 2.53e-2 | 1.17e-1 |
| Adrenergic signaling in cardiomyocytes | KEGG | 1 / 154 | 26.0× | 3.80e-2 | 1.47e-1 |
| cGMP-PKG signaling pathway | KEGG | 1 / 166 | 24.1× | 4.09e-2 | 1.53e-1 |
| cAMP signaling pathway | KEGG | 1 / 226 | 17.7× | 5.54e-2 | 1.81e-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 ⇵ |
|---|---|---|---|---|---|
| iron-sulfur cluster export from the mitochondrion | GO:0140466 | 1 / 1 | 6,229× | 1.61e-4 | 4.31e-3 ✓ sig. |
| positive regulation of iron-sulfur cluster assembly | GO:1903331 | 1 / 1 | 6,229× | 1.61e-4 | 4.31e-3 ✓ sig. |
| positive regulation of heme biosynthetic process | GO:0070455 | 1 / 3 | 2,076× | 4.82e-4 | 9.31e-3 ✓ sig. |
| calcium ion export across plasma membrane | GO:1990034 | 1 / 6 | 1,038× | 9.63e-4 | 1.47e-2 ✓ sig. |
| heme transport | GO:0015886 | 1 / 7 | 890× | 1.12e-3 | 1.62e-2 ✓ sig. |
| gap junction assembly | GO:0016264 | 1 / 8 | 779× | 1.28e-3 | 1.75e-2 ✓ sig. |
| iron ion transmembrane transport | GO:0034755 | 1 / 11 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| regulation of presynaptic cytosolic calcium ion concentration | GO:0099509 | 1 / 14 | 445× | 2.25e-3 | 2.41e-2 ✓ sig. |
| transmembrane transport | GO:0055085 | 2 / 557 | 22.4× | 2.61e-3 | 2.62e-2 ✓ sig. |
| negative regulation of reactive oxygen species biosynthetic process | GO:1903427 | 1 / 18 | 346× | 2.89e-3 | 2.76e-2 ✓ sig. |
| regulation of cardiac conduction | GO:1903779 | 1 / 21 | 297× | 3.37e-3 | 3.01e-2 ✓ sig. |
| iron-sulfur cluster assembly | GO:0016226 | 1 / 27 | 231× | 4.33e-3 | 3.40e-2 ✓ sig. |
| regulation of cytosolic calcium ion concentration | GO:0051480 | 1 / 39 | 160× | 6.25e-3 | 4.10e-2 ✓ sig. |
| intracellular iron ion homeostasis | GO:0006879 | 1 / 71 | 87.7× | 1.14e-2 | 5.47e-2 |
| cell communication | GO:0007154 | 1 / 80 | 77.9× | 1.28e-2 | 5.78e-2 |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Spinocerebellar ataxia, x-linked | X-linked progressive cerebellar ataxia | 0.500 | 2 | 2.53e-8 | 2.03e-7 ✓ sig. |
| Oropharyngeal dysphagia | X-linked non progressive cerebellar ataxia | 0.500 | 1 | 6.49e-5 | 2.34e-4 ✓ sig. |
| Charcot-Marie-Tooth disease X-linked dominant 1 | X-linked progressive cerebellar ataxia | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Oropharyngeal dysphagia | X-linked progressive cerebellar ataxia | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| X-linked non progressive cerebellar ataxia | X-linked progressive cerebellar ataxia | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Charcot-Marie-Tooth disease X-linked dominant 1 | Spinocerebellar ataxia, x-linked | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Oropharyngeal dysphagia | Spinocerebellar ataxia, x-linked | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Spinocerebellar ataxia, x-linked | X-linked non progressive cerebellar ataxia | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |