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 378
5
Diseases
17
Unique genes
0.204
Avg. similarity score
Dyschromatosis symmetrica hereditaria
Most-connected disease (4 links)
Disease
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Dyschromatosis symmetrica hereditaria
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
Dyschromatosis
Rotator cuff tear
ADAR-related type 1 interferonopathy
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Dyschromatosis symmetrica hereditaria | 4 | 4 | 3 |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 3 | 3 | 1 |
| Dyschromatosis | 3 | 3 | 1 |
| Rotator cuff tear | 3 | 3 | 15 |
| ADAR-related type 1 interferonopathy | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| SASH1 | 4 / 5 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, Dyschromatosis, Dyschromatosis symmetrica hereditaria, Rotator cuff tear |
| ADAR | 2 / 5 | ADAR-related type 1 interferonopathy, Dyschromatosis symmetrica hereditaria |
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 ⇵ |
|---|---|---|---|---|---|
| Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7) | Reactome | 1 / 1 | 706× | 1.42e-3 | 1.76e-2 ✓ sig. |
| C6 deamination of adenosine | Reactome | 1 / 2 | 353× | 2.83e-3 | 2.95e-2 ✓ sig. |
| Formation of editosomes by ADAR proteins | Reactome | 1 / 2 | 353× | 2.83e-3 | 2.95e-2 ✓ sig. |
| Mitochondrial ABC transporters | Reactome | 1 / 4 | 177× | 5.65e-3 | 4.75e-2 ✓ sig. |
| Apoptotic execution phase | Reactome | 1 / 4 | 177× | 5.65e-3 | 4.75e-2 ✓ sig. |
| Zinc influx into cells by the SLC39 gene family | Reactome | 1 / 8 | 88.3× | 1.13e-2 | 7.36e-2 |
| Sperm Motility And Taxes | Reactome | 1 / 9 | 78.5× | 1.27e-2 | 7.87e-2 |
| Apoptotic cleavage of cellular proteins | Reactome | 1 / 18 | 39.2× | 2.52e-2 | 1.17e-1 |
| Defective B3GALTL causes Peters-plus syndrome (PpS) | Reactome | 1 / 37 | 19.1× | 5.11e-2 | 1.74e-1 |
| O-glycosylation of TSR domain-containing proteins | Reactome | 1 / 38 | 18.6× | 5.25e-2 | 1.76e-1 |
| Beta defensins | Reactome | 1 / 40 | 17.7× | 5.52e-2 | 1.80e-1 |
| Ferroptosis | KEGG | 1 / 42 | 16.8× | 5.79e-2 | 1.85e-1 |
| Defensins | Reactome | 1 / 42 | 16.8× | 5.79e-2 | 1.85e-1 |
| Vasopressin-regulated water reabsorption | KEGG | 1 / 44 | 16.1× | 6.05e-2 | 1.89e-1 |
| ABC transporters | KEGG | 1 / 45 | 15.7× | 6.19e-2 | 1.91e-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 ⇵ |
|---|---|---|---|---|---|
| cellular detoxification of cadmium ion | GO:0098849 | 2 / 3 | 733× | 2.34e-6 | 1.63e-4 ✓ sig. |
| somatic diversification of immune receptors via somatic mutation | GO:0002566 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| negative regulation of post-transcriptional gene silencing by regulatory ncRNA | GO:1900369 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| regulation of protein K63-linked ubiquitination | GO:1900044 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| regulation of protein autoubiquitination | GO:1902498 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| mercury ion transport | GO:0015694 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| leukocyte adhesion to arterial endothelial cell | GO:0061757 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| plasma membrane selenite transport | GO:0097080 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| mitochondrial manganese ion transmembrane transport | GO:1990540 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| tetrapyrrole metabolic process | GO:0033013 | 1 / 1 | 1,099× | 9.10e-4 | 1.42e-2 ✓ sig. |
| iron ion import across plasma membrane | GO:0098711 | 1 / 2 | 550× | 1.82e-3 | 2.15e-2 ✓ sig. |
| heme transmembrane transport | GO:0035351 | 1 / 2 | 550× | 1.82e-3 | 2.15e-2 ✓ sig. |
| positive regulation of synapse structural plasticity | GO:0051835 | 1 / 3 | 366× | 2.73e-3 | 2.68e-2 ✓ sig. |
| base conversion or substitution editing | GO:0016553 | 1 / 4 | 275× | 3.63e-3 | 3.14e-2 ✓ sig. |
| establishment of body hair planar orientation | GO:0048105 | 1 / 4 | 275× | 3.63e-3 | 3.14e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | Dyschromatosis | 0.500 | 1 | 6.49e-5 | 2.34e-4 ✓ sig. |
| ADAR-related type 1 interferonopathy | Dyschromatosis symmetrica hereditaria | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | Dyschromatosis symmetrica hereditaria | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Dyschromatosis | Dyschromatosis symmetrica hereditaria | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | Rotator cuff tear | 0.063 | 1 | 9.74e-4 | 1.64e-3 ✓ sig. |
| Dyschromatosis | Rotator cuff tear | 0.063 | 1 | 9.74e-4 | 1.64e-3 ✓ sig. |
| Dyschromatosis symmetrica hereditaria | Rotator cuff tear | 0.056 | 1 | 2.92e-3 | 3.87e-3 ✓ sig. |