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 236
7
Diseases
12
Unique genes
0.226
Avg. similarity score
Chilblain lupus
Most-connected disease (6 links)
Disease
Searched: Chilblain lupus
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Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Chilblain lupus
Chilblain lupus erythematosus
Aicardi goutieres syndrome
Deoxyguanosine kinase deficiency
Interferonopathy
Type i interferonopathy
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Chilblain lupus | 6 | 6 | 3 |
| Chilblain lupus erythematosus | 6 | 6 | 5 |
| Aicardi goutieres syndrome | 5 | 5 | 8 |
| Deoxyguanosine kinase deficiency | 4 | 4 | 2 |
| Interferonopathy | 4 | 4 | 4 |
| Type i interferonopathy | 4 | 4 | 1 |
| retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 3 | 3 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| SAMHD1 | 5 / 7 | Aicardi goutieres syndrome, Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency and 1 more |
| TREX1 | 5 / 7 | Aicardi goutieres syndrome, Chilblain lupus, Chilblain lupus erythematosus, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations and 1 more |
| RNASEH2A | 2 / 7 | Aicardi goutieres syndrome, Interferonopathy |
| RNASEH2B | 2 / 7 | Aicardi goutieres syndrome, Interferonopathy |
| RNASEH2C | 2 / 7 | Aicardi goutieres syndrome, Interferonopathy |
| STING1 | 2 / 7 | 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 | 48.2× | 1.01e-6 | 4.89e-5 ✓ sig. |
| DNA replication | KEGG | 3 / 36 | 83.4× | 5.34e-6 | 2.05e-4 ✓ sig. |
| RIG-I-like receptor signaling pathway | KEGG | 3 / 72 | 41.7× | 4.37e-5 | 1.16e-3 ✓ sig. |
| IRF3-mediated induction of type I IFN | Reactome | 2 / 13 | 154× | 7.10e-5 | 1.71e-3 ✓ sig. |
| Regulation by TREX1 | Reactome | 1 / 1 | 1,001× | 9.99e-4 | 1.39e-2 ✓ sig. |
| Nucleobase catabolism | Reactome | 1 / 1 | 1,001× | 9.99e-4 | 1.39e-2 ✓ sig. |
| Coronavirus disease - COVID-19 | KEGG | 3 / 238 | 12.6× | 1.48e-3 | 1.88e-2 ✓ sig. |
| Interferon alpha/beta signaling | Reactome | 2 / 67 | 29.9× | 1.95e-3 | 2.29e-2 ✓ sig. |
| C6 deamination of adenosine | Reactome | 1 / 2 | 500× | 2.00e-3 | 2.32e-2 ✓ sig. |
| Formation of editosomes by ADAR proteins | Reactome | 1 / 2 | 500× | 2.00e-3 | 2.32e-2 ✓ sig. |
| STAT6-mediated induction of chemokines | Reactome | 1 / 3 | 334× | 2.99e-3 | 3.11e-2 ✓ sig. |
| STING mediated induction of host immune responses | Reactome | 1 / 5 | 200× | 4.99e-3 | 4.44e-2 ✓ sig. |
| Measles | KEGG | 2 / 139 | 14.4× | 8.14e-3 | 6.16e-2 |
| SLBP independent Processing of Histone Pre-mRNAs | Reactome | 1 / 10 | 100× | 9.95e-3 | 6.97e-2 |
| SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs | Reactome | 1 / 11 | 91.0× | 1.09e-2 | 7.41e-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 | 208× | 2.65e-9 | 5.17e-7 ✓ sig. |
| defense response to virus | GO:0051607 | 5 / 247 | 31.5× | 2.85e-7 | 2.95e-5 ✓ sig. |
| negative regulation of type I interferon-mediated signaling pathway | GO:0060339 | 3 / 23 | 203× | 3.56e-7 | 3.55e-5 ✓ sig. |
| RNA catabolic process | GO:0006401 | 3 / 37 | 126× | 1.55e-6 | 1.19e-4 ✓ sig. |
| nucleobase-containing compound metabolic process | GO:0006139 | 3 / 61 | 76.6× | 7.13e-6 | 4.07e-4 ✓ sig. |
| regulation of metabolic process | GO:0019222 | 2 / 10 | 311× | 1.70e-5 | 8.00e-4 ✓ sig. |
| innate immune response | GO:0045087 | 5 / 605 | 12.9× | 2.29e-5 | 1.01e-3 ✓ sig. |
| cellular response to exogenous dsRNA | GO:0071360 | 2 / 16 | 195× | 4.51e-5 | 1.70e-3 ✓ sig. |
| DNA replication | GO:0006260 | 3 / 131 | 35.7× | 7.07e-5 | 2.39e-3 ✓ sig. |
| protein complex oligomerization | GO:0051259 | 2 / 27 | 115× | 1.32e-4 | 3.79e-3 ✓ sig. |
| cGAS/STING signaling pathway | GO:0140896 | 2 / 29 | 107× | 1.52e-4 | 4.22e-3 ✓ sig. |
| cellular response to interferon-beta | GO:0035458 | 2 / 29 | 107× | 1.52e-4 | 4.22e-3 ✓ sig. |
| regulation of innate immune response | GO:0045088 | 2 / 32 | 97.3× | 1.86e-4 | 4.89e-3 ✓ sig. |
| cytoplasmic pattern recognition receptor signaling pathway | GO:0002753 | 2 / 33 | 94.4× | 1.97e-4 | 5.11e-3 ✓ sig. |
| positive regulation of interferon-beta production | GO:0032728 | 2 / 41 | 76.0× | 3.06e-4 | 6.95e-3 ✓ sig. |