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 150
9
Diseases
17
Unique genes
0.223
Avg. similarity score
Chilblain lupus erythematosus
Most-connected disease (8 links)
Disease
Searched: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
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.
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chilblain lupus erythematosus
Chilblain lupus
Type i interferonopathy
Aicardi goutieres syndrome
Cadasil
Deoxyguanosine kinase deficiency
Interferonopathy
Retinal vasculopathy with cerebral leukodystrophy
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Chilblain lupus erythematosus | 8 | 8 | 5 |
| Chilblain lupus | 6 | 6 | 3 |
| Type i interferonopathy | 6 | 6 | 1 |
| Aicardi goutieres syndrome | 5 | 5 | 8 |
| retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 5 | 5 | 1 |
| Cadasil | 4 | 4 | 6 |
| Deoxyguanosine kinase deficiency | 4 | 4 | 2 |
| Interferonopathy | 4 | 4 | 4 |
| Retinal vasculopathy with cerebral leukodystrophy | 4 | 4 | 3 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| TREX1 | 7 / 9 | Aicardi goutieres syndrome, Cadasil, Chilblain lupus, Chilblain lupus erythematosus and 3 more |
| SAMHD1 | 5 / 9 | Aicardi goutieres syndrome, Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency and 1 more |
| ATRIP | 3 / 9 | Cadasil, Chilblain lupus erythematosus, Retinal vasculopathy with cerebral leukodystrophy |
| RNASEH2A | 2 / 9 | Aicardi goutieres syndrome, Interferonopathy |
| RNASEH2B | 2 / 9 | Aicardi goutieres syndrome, Interferonopathy |
| RNASEH2C | 2 / 9 | Aicardi goutieres syndrome, Interferonopathy |
| STING1 | 2 / 9 | Chilblain lupus, Chilblain lupus erythematosus |
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 ⇵ |
|---|---|---|---|---|---|
| Cytosolic DNA-sensing pathway | KEGG | 4 / 83 | 34.0× | 4.71e-6 | 1.94e-4 ✓ sig. |
| DNA replication | KEGG | 3 / 36 | 58.9× | 1.63e-5 | 5.33e-4 ✓ sig. |
| RIG-I-like receptor signaling pathway | KEGG | 3 / 72 | 29.4× | 1.32e-4 | 2.90e-3 ✓ sig. |
| IRF3-mediated induction of type I IFN | Reactome | 2 / 13 | 109× | 1.46e-4 | 3.12e-3 ✓ sig. |
| Ovarian tumor domain proteases | Reactome | 2 / 38 | 37.2× | 1.29e-3 | 1.70e-2 ✓ sig. |
| Regulation by TREX1 | Reactome | 1 / 1 | 706× | 1.42e-3 | 1.84e-2 ✓ sig. |
| Nucleobase catabolism | Reactome | 1 / 1 | 706× | 1.42e-3 | 1.84e-2 ✓ sig. |
| PTEN Loss of Function in Cancer | Reactome | 1 / 1 | 706× | 1.42e-3 | 1.84e-2 ✓ sig. |
| C6 deamination of adenosine | Reactome | 1 / 2 | 353× | 2.83e-3 | 3.03e-2 ✓ sig. |
| Formation of editosomes by ADAR proteins | Reactome | 1 / 2 | 353× | 2.83e-3 | 3.03e-2 ✓ sig. |
| Interferon alpha/beta signaling | Reactome | 2 / 67 | 21.1× | 3.95e-3 | 3.85e-2 ✓ sig. |
| STAT6-mediated induction of chemokines | Reactome | 1 / 3 | 235× | 4.24e-3 | 4.04e-2 ✓ sig. |
| Coronavirus disease - COVID-19 | KEGG | 3 / 238 | 8.9× | 4.25e-3 | 4.05e-2 ✓ sig. |
| STING mediated induction of host immune responses | Reactome | 1 / 5 | 141× | 7.06e-3 | 5.68e-2 |
| Defective LFNG causes SCDO3 | Reactome | 1 / 5 | 141× | 7.06e-3 | 5.68e-2 |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| mismatch repair | GO:0006298 | 4 / 30 | 147× | 1.27e-8 | 2.09e-6 ✓ sig. |
| negative regulation of type I interferon-mediated signaling pathway | GO:0060339 | 3 / 23 | 143× | 1.10e-6 | 9.11e-5 ✓ sig. |
| defense response to virus | GO:0051607 | 5 / 247 | 22.3× | 2.11e-6 | 1.55e-4 ✓ sig. |
| RNA catabolic process | GO:0006401 | 3 / 37 | 89.1× | 4.77e-6 | 2.97e-4 ✓ sig. |
| nucleobase-containing compound metabolic process | GO:0006139 | 3 / 61 | 54.1× | 2.18e-5 | 9.92e-4 ✓ sig. |
| regulation of metabolic process | GO:0019222 | 2 / 10 | 220× | 3.49e-5 | 1.42e-3 ✓ sig. |
| cellular response to exogenous dsRNA | GO:0071360 | 2 / 16 | 137× | 9.28e-5 | 2.97e-3 ✓ sig. |
| innate immune response | GO:0045087 | 5 / 605 | 9.1× | 1.57e-4 | 4.36e-3 ✓ sig. |
| DNA replication | GO:0006260 | 3 / 131 | 25.2× | 2.13e-4 | 5.45e-3 ✓ sig. |
| protein complex oligomerization | GO:0051259 | 2 / 27 | 81.4× | 2.70e-4 | 6.43e-3 ✓ sig. |
| cGAS/STING signaling pathway | GO:0140896 | 2 / 29 | 75.8× | 3.12e-4 | 7.16e-3 ✓ sig. |
| cellular response to interferon-beta | GO:0035458 | 2 / 29 | 75.8× | 3.12e-4 | 7.16e-3 ✓ sig. |
| regulation of innate immune response | GO:0045088 | 2 / 32 | 68.7× | 3.80e-4 | 8.17e-3 ✓ sig. |
| cytoplasmic pattern recognition receptor signaling pathway | GO:0002753 | 2 / 33 | 66.6× | 4.05e-4 | 8.55e-3 ✓ sig. |
| positive regulation of interferon-beta production | GO:0032728 | 2 / 41 | 53.6× | 6.26e-4 | 1.15e-2 ✓ sig. |