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 159
9
Diseases
11
Unique genes
0.266
Avg. similarity score
Chilblain lupus erythematosus
Most-connected disease (8 links)
Disease
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Chilblain lupus erythematosus
Chilblain lupus
TREX1-related type 1 interferonopathy
Type i interferonopathy
Retinal vasculopathy with cerebral leukodystrophy
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Cadasil
Deoxyguanosine kinase deficiency
SAMHD1-related type 1 interferonopathy
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 |
| TREX1-related type 1 interferonopathy | 6 | 6 | 1 |
| Type i interferonopathy | 6 | 6 | 1 |
| Retinal vasculopathy with cerebral leukodystrophy | 5 | 5 | 3 |
| retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 5 | 5 | 1 |
| Cadasil | 4 | 4 | 6 |
| Deoxyguanosine kinase deficiency | 3 | 3 | 2 |
| SAMHD1-related type 1 interferonopathy | 3 | 3 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| TREX1 | 7 / 9 | Cadasil, Chilblain lupus, Chilblain lupus erythematosus, Retinal vasculopathy with cerebral leukodystrophy and 3 more |
| SAMHD1 | 4 / 9 | Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency, SAMHD1-related type 1 interferonopathy |
| ATRIP | 3 / 9 | Cadasil, Chilblain lupus erythematosus, Retinal vasculopathy with cerebral leukodystrophy |
| 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 | 3 / 83 | 39.5× | 5.05e-5 | 1.29e-3 ✓ sig. |
| IRF3-mediated induction of type I IFN | Reactome | 2 / 13 | 168× | 5.92e-5 | 1.46e-3 ✓ sig. |
| Regulation by TREX1 | Reactome | 1 / 1 | 1,092× | 9.16e-4 | 1.27e-2 ✓ sig. |
| Nucleobase catabolism | Reactome | 1 / 1 | 1,092× | 9.16e-4 | 1.27e-2 ✓ sig. |
| PTEN Loss of Function in Cancer | Reactome | 1 / 1 | 1,092× | 9.16e-4 | 1.27e-2 ✓ sig. |
| STAT6-mediated induction of chemokines | Reactome | 1 / 3 | 364× | 2.75e-3 | 2.89e-2 ✓ sig. |
| STING mediated induction of host immune responses | Reactome | 1 / 5 | 218× | 4.57e-3 | 4.13e-2 ✓ sig. |
| Defective LFNG causes SCDO3 | Reactome | 1 / 5 | 218× | 4.57e-3 | 4.13e-2 ✓ sig. |
| Pre-NOTCH Processing in Golgi | Reactome | 1 / 6 | 182× | 5.48e-3 | 4.65e-2 ✓ sig. |
| Ligand-receptor interactions | Reactome | 1 / 7 | 156× | 6.40e-3 | 5.15e-2 |
| Negative regulation of the PI3K/AKT network | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Noncanonical activation of NOTCH3 | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Breast cancer | KEGG | 2 / 148 | 14.8× | 7.71e-3 | 5.83e-2 |
| Regulation of PTEN mRNA translation | Reactome | 1 / 9 | 121× | 8.22e-3 | 6.07e-2 |
| Regulation of PTEN localization | Reactome | 1 / 9 | 121× | 8.22e-3 | 6.07e-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 ⇵ |
|---|---|---|---|---|---|
| regulation of metabolic process | GO:0019222 | 2 / 10 | 340× | 1.41e-5 | 6.84e-4 ✓ sig. |
| negative regulation of type I interferon-mediated signaling pathway | GO:0060339 | 2 / 23 | 148× | 7.92e-5 | 2.54e-3 ✓ sig. |
| cGAS/STING signaling pathway | GO:0140896 | 2 / 29 | 117× | 1.27e-4 | 3.61e-3 ✓ sig. |
| cellular response to interferon-beta | GO:0035458 | 2 / 29 | 117× | 1.27e-4 | 3.61e-3 ✓ sig. |
| regulation of innate immune response | GO:0045088 | 2 / 32 | 106× | 1.55e-4 | 4.19e-3 ✓ sig. |
| DNA damage checkpoint signaling | GO:0000077 | 2 / 47 | 72.3× | 3.36e-4 | 7.25e-3 ✓ sig. |
| defense response to virus | GO:0051607 | 3 / 247 | 20.6× | 3.48e-4 | 7.43e-3 ✓ sig. |
| nucleobase-containing compound metabolic process | GO:0006139 | 2 / 61 | 55.7× | 5.66e-4 | 1.04e-2 ✓ sig. |
| negative regulation of cell communication | GO:0010648 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| negative regulation of synaptic vesicle clustering | GO:2000808 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| immune response in brain or nervous system | GO:0002383 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| immune complex formation | GO:0097281 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| guanosine metabolic process | GO:0008617 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| dGTP metabolic process | GO:0046070 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| purine deoxyribonucleoside metabolic process | GO:0046122 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |