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 502
6
Diseases
5
Unique genes
0.348
Avg. similarity score
Pachyonychia congenita
Most-connected disease (5 links)
Disease
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Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Pachyonychia congenita
Epidermolytic hyperkeratosis 2a
Epidermolytic hyperkeratosis 2b, autosomal recessive
Ichthyosis histrix, lambert type
Ichthyosis with confetti
Pachyonychia congenita 4
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Pachyonychia congenita | 5 | 5 | 5 |
| Epidermolytic hyperkeratosis 2a | 4 | 4 | 1 |
| Epidermolytic hyperkeratosis 2b, autosomal recessive | 4 | 4 | 1 |
| Ichthyosis histrix, lambert type | 4 | 4 | 1 |
| Ichthyosis with confetti | 4 | 4 | 1 |
| Pachyonychia congenita 4 | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| KRT10 | 5 / 6 | Epidermolytic hyperkeratosis 2a, Epidermolytic hyperkeratosis 2b, autosomal recessive, Ichthyosis histrix, lambert type, Ichthyosis with confetti and 1 more |
| KRT6B | 2 / 6 | Pachyonychia congenita, Pachyonychia congenita 4 |
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 ⇵ |
|---|---|---|---|---|---|
| Formation of the cornified envelope | Reactome | 5 / 130 | 92.4× | 1.38e-10 | 1.55e-8 ✓ sig. |
| Keratinization | Reactome | 5 / 152 | 79.0× | 3.04e-10 | 3.19e-8 ✓ sig. |
| Staphylococcus aureus infection | KEGG | 3 / 99 | 72.8× | 5.37e-6 | 1.74e-4 ✓ sig. |
| Estrogen signaling pathway | KEGG | 3 / 139 | 51.8× | 1.49e-5 | 4.08e-4 ✓ sig. |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| intermediate filament organization | GO:0045109 | 5 / 70 | 267× | 6.38e-13 | 3.11e-10 ✓ sig. |
| morphogenesis of an epithelium | GO:0002009 | 4 / 51 | 293× | 2.46e-10 | 6.86e-8 ✓ sig. |
| keratinization | GO:0031424 | 4 / 73 | 205× | 1.07e-9 | 2.46e-7 ✓ sig. |
| keratinocyte differentiation | GO:0030216 | 2 / 69 | 108× | 1.33e-4 | 3.80e-3 ✓ sig. |
| negative regulation of entry of bacterium into host cell | GO:2000536 | 1 / 2 | 1,869× | 5.35e-4 | 9.88e-3 ✓ sig. |
| positive regulation of epidermis development | GO:0045684 | 1 / 5 | 747× | 1.34e-3 | 1.71e-2 ✓ sig. |
| keratinocyte migration | GO:0051546 | 1 / 6 | 623× | 1.60e-3 | 1.88e-2 ✓ sig. |
| positive regulation of hair follicle development | GO:0051798 | 1 / 7 | 534× | 1.87e-3 | 2.05e-2 ✓ sig. |
| ectoderm development | GO:0007398 | 1 / 15 | 249× | 4.01e-3 | 3.01e-2 ✓ sig. |
| protein heterotetramerization | GO:0051290 | 1 / 16 | 234× | 4.27e-3 | 3.09e-2 ✓ sig. |
| hair cycle | GO:0042633 | 1 / 18 | 208× | 4.81e-3 | 3.27e-2 ✓ sig. |
| peptide cross-linking | GO:0018149 | 1 / 19 | 197× | 5.07e-3 | 3.37e-2 ✓ sig. |
| intermediate filament cytoskeleton organization | GO:0045104 | 1 / 23 | 162× | 6.14e-3 | 3.68e-2 ✓ sig. |
| hair follicle morphogenesis | GO:0031069 | 1 / 34 | 110× | 9.07e-3 | 4.44e-2 ✓ sig. |
| establishment of skin barrier | GO:0061436 | 1 / 37 | 101× | 9.86e-3 | 4.62e-2 ✓ sig. |