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 343
6
Diseases
4
Unique genes
0.332
Avg. similarity score
Bohring syndrome
Most-connected disease (5 links)
Disease
Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Bohring syndrome
Bohring-opitz-like syndrome
Cold-induced sweating syndrome
Crisponi syndrome
Perching syndrome
Bohring-opitz syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Bohring syndrome | 5 | 5 | 2 |
| Bohring-opitz-like syndrome | 4 | 4 | 1 |
| Cold-induced sweating syndrome | 4 | 4 | 3 |
| Crisponi syndrome | 4 | 4 | 3 |
| Perching syndrome | 4 | 4 | 1 |
| Bohring-opitz syndrome | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| KLHL7 | 5 / 6 | Bohring syndrome, Bohring-opitz-like syndrome, Cold-induced sweating syndrome, Crisponi syndrome and 1 more |
| ASXL1 | 2 / 6 | Bohring syndrome, Bohring-opitz syndrome |
| CLCF1 | 2 / 6 | Cold-induced sweating syndrome, Crisponi syndrome |
| CRLF1 | 2 / 6 | Cold-induced sweating syndrome, Crisponi syndrome |
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 ⇵ |
|---|---|---|---|---|---|
| IL-6-type cytokine receptor ligand interactions | Reactome | 2 / 17 | 353× | 1.13e-5 | 3.71e-4 ✓ sig. |
| Interleukin-27 signaling | Reactome | 1 / 11 | 273× | 3.66e-3 | 3.54e-2 ✓ sig. |
| Polycomb repressive complex | KEGG | 1 / 83 | 36.2× | 2.74e-2 | 1.23e-1 |
| UCH proteinases | Reactome | 1 / 97 | 31.0× | 3.19e-2 | 1.34e-1 |
| JAK-STAT signaling pathway | KEGG | 1 / 168 | 17.9× | 5.48e-2 | 1.80e-1 |
| Cytokine-cytokine receptor interaction | KEGG | 1 / 298 | 10.1× | 9.56e-2 | 2.42e-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 ⇵ |
|---|---|---|---|---|---|
| cell surface receptor signaling pathway via STAT | GO:0097696 | 2 / 28 | 334× | 1.30e-5 | 6.40e-4 ✓ sig. |
| cytokine-mediated signaling pathway | GO:0019221 | 2 / 145 | 64.4× | 3.55e-4 | 7.52e-3 ✓ sig. |
| regulation of kidney size | GO:0035564 | 1 / 2 | 2,336× | 4.28e-4 | 8.59e-3 ✓ sig. |
| hematopoietic or lymphoid organ development | GO:0048534 | 1 / 2 | 2,336× | 4.28e-4 | 8.59e-3 ✓ sig. |
| negative regulation of neuron apoptotic process | GO:0043524 | 2 / 160 | 58.4× | 4.32e-4 | 8.65e-3 ✓ sig. |
| positive regulation of isotype switching to IgE isotypes | GO:0048295 | 1 / 3 | 1,557× | 6.42e-4 | 1.13e-2 ✓ sig. |
| positive regulation of retinoic acid receptor signaling pathway | GO:0048386 | 1 / 5 | 934× | 1.07e-3 | 1.57e-2 ✓ sig. |
| lung saccule development | GO:0060430 | 1 / 6 | 779× | 1.28e-3 | 1.75e-2 ✓ sig. |
| negative regulation of peroxisome proliferator activated receptor signaling pathway | GO:0035359 | 1 / 8 | 584× | 1.71e-3 | 2.07e-2 ✓ sig. |
| podocyte development | GO:0072015 | 1 / 9 | 519× | 1.93e-3 | 2.20e-2 ✓ sig. |
| bone marrow development | GO:0048539 | 1 / 9 | 519× | 1.93e-3 | 2.20e-2 ✓ sig. |
| positive regulation of astrocyte differentiation | GO:0048711 | 1 / 11 | 425× | 2.35e-3 | 2.48e-2 ✓ sig. |
| negative regulation of motor neuron apoptotic process | GO:2000672 | 1 / 11 | 425× | 2.35e-3 | 2.48e-2 ✓ sig. |
| positive regulation of cell population proliferation | GO:0008284 | 2 / 532 | 17.6× | 4.67e-3 | 3.56e-2 ✓ sig. |
| positive regulation of immunoglobulin production | GO:0002639 | 1 / 33 | 142× | 7.05e-3 | 4.35e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Cold-induced sweating syndrome | Crisponi syndrome | 0.750 | 3 | 1.64e-12 | 2.04e-11 ✓ sig. |
| Bohring-opitz-like syndrome | Perching syndrome | 0.500 | 1 | 6.49e-5 | 2.34e-4 ✓ sig. |
| Bohring syndrome | Bohring-opitz syndrome | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Bohring syndrome | Bohring-opitz-like syndrome | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Bohring syndrome | Perching syndrome | 0.333 | 1 | 1.30e-4 | 3.90e-4 ✓ sig. |
| Bohring-opitz-like syndrome | Cold-induced sweating syndrome | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Bohring-opitz-like syndrome | Crisponi syndrome | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Cold-induced sweating syndrome | Perching syndrome | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Crisponi syndrome | Perching syndrome | 0.250 | 1 | 1.95e-4 | 5.28e-4 ✓ sig. |
| Bohring syndrome | Cold-induced sweating syndrome | 0.200 | 1 | 3.90e-4 | 8.52e-4 ✓ sig. |
| Bohring syndrome | Crisponi syndrome | 0.200 | 1 | 3.90e-4 | 8.52e-4 ✓ sig. |