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 339
6
Diseases
10
Unique genes
0.231
Avg. similarity score
Hyperandrogenism
Most-connected disease (4 links)
Disease
Searched: Cortisone reductase deficiency
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Cortisone reductase deficiency
Hyperandrogenism
Right bundle branch block
Right cardiac ventricular dilatation
Right ventricular hypertrophy
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Hyperandrogenism | 4 | 4 | 5 |
| Right bundle branch block | 3 | 3 | 1 |
| Right cardiac ventricular dilatation | 3 | 3 | 1 |
| Right ventricular hypertrophy | 2 | 2 | 6 |
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 | 1 | 1 |
| Cortisone reductase deficiency | 1 | 1 | 2 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| BMPR2 | 4 / 6 | Hyperandrogenism, Right bundle branch block, Right cardiac ventricular dilatation, Right ventricular hypertrophy |
| CYP21A2 | 2 / 6 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Hyperandrogenism |
| H6PD | 2 / 6 | Cortisone reductase deficiency, Hyperandrogenism |
| HSD11B1 | 2 / 6 | Cortisone reductase deficiency, Hyperandrogenism |
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 ⇵ |
|---|---|---|---|---|---|
| MAPK1 (ERK2) activation | Reactome | 2 / 9 | 267× | 2.24e-5 | 6.92e-4 ✓ sig. |
| Glucocorticoid biosynthesis | Reactome | 2 / 10 | 240× | 2.80e-5 | 8.33e-4 ✓ sig. |
| MAPK3 (ERK1) activation | Reactome | 2 / 10 | 240× | 2.80e-5 | 8.33e-4 ✓ sig. |
| Interleukin-6 signaling | Reactome | 2 / 11 | 218× | 3.42e-5 | 9.79e-4 ✓ sig. |
| GAB1 signalosome | Reactome | 2 / 17 | 141× | 8.43e-5 | 2.03e-3 ✓ sig. |
| JAK-STAT signaling pathway | KEGG | 3 / 168 | 21.4× | 3.00e-4 | 5.53e-3 ✓ sig. |
| Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) | Reactome | 1 / 1 | 1,201× | 8.33e-4 | 1.22e-2 ✓ sig. |
| Steroid hormone biosynthesis | KEGG | 2 / 63 | 38.1× | 1.19e-3 | 1.60e-2 ✓ sig. |
| Adipocytokine signaling pathway | KEGG | 2 / 70 | 34.3× | 1.46e-3 | 1.88e-2 ✓ sig. |
| Renal cell carcinoma | KEGG | 2 / 70 | 34.3× | 1.46e-3 | 1.88e-2 ✓ sig. |
| Cytokine-cytokine receptor interaction | KEGG | 3 / 298 | 12.1× | 1.59e-3 | 2.01e-2 ✓ sig. |
| Constitutive Signaling by Aberrant PI3K in Cancer | Reactome | 2 / 75 | 32.0× | 1.68e-3 | 2.08e-2 ✓ sig. |
| Regulation of gap junction activity | Reactome | 1 / 3 | 400× | 2.50e-3 | 2.77e-2 ✓ sig. |
| PIP3 activates AKT signaling | Reactome | 2 / 93 | 25.8× | 2.56e-3 | 2.83e-2 ✓ sig. |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | Reactome | 2 / 103 | 23.3× | 3.13e-3 | 3.25e-2 ✓ 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 ⇵ |
|---|---|---|---|---|---|
| positive regulation of ossification | GO:0045778 | 3 / 21 | 267× | 1.46e-7 | 1.70e-5 ✓ sig. |
| cytokine-mediated signaling pathway | GO:0019221 | 3 / 145 | 38.7× | 5.28e-5 | 1.94e-3 ✓ sig. |
| cell surface receptor signaling pathway via STAT | GO:0097696 | 2 / 28 | 133× | 9.67e-5 | 3.06e-3 ✓ sig. |
| face morphogenesis | GO:0060325 | 2 / 33 | 113× | 1.35e-4 | 3.90e-3 ✓ sig. |
| glycogen metabolic process | GO:0005977 | 2 / 40 | 93.4× | 1.99e-4 | 5.20e-3 ✓ sig. |
| heart development | GO:0007507 | 3 / 273 | 20.5× | 3.43e-4 | 7.61e-3 ✓ sig. |
| outflow tract morphogenesis | GO:0003151 | 2 / 63 | 59.3× | 4.95e-4 | 9.80e-3 ✓ sig. |
| epidermal growth factor receptor signaling pathway | GO:0007173 | 2 / 64 | 58.4× | 5.10e-4 | 1.00e-2 ✓ sig. |
| microtubule-based transport | GO:0099111 | 1 / 1 | 1,869× | 5.35e-4 | 1.03e-2 ✓ sig. |
| semi-lunar valve development | GO:1905314 | 1 / 1 | 1,869× | 5.35e-4 | 1.03e-2 ✓ sig. |
| negative regulation of cortisol secretion | GO:0051463 | 1 / 1 | 1,869× | 5.35e-4 | 1.03e-2 ✓ sig. |
| negative regulation of growth hormone secretion | GO:0060125 | 1 / 1 | 1,869× | 5.35e-4 | 1.03e-2 ✓ sig. |
| intestinal epithelial cell migration | GO:0061582 | 1 / 1 | 1,869× | 5.35e-4 | 1.03e-2 ✓ sig. |
| external genitalia morphogenesis | GO:0035261 | 1 / 1 | 1,869× | 5.35e-4 | 1.03e-2 ✓ sig. |
| positive regulation of osteoblast differentiation | GO:0045669 | 2 / 78 | 47.9× | 7.57e-4 | 1.31e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Cortisone reductase deficiency | Hyperandrogenism | 0.333 | 2 | 8.44e-8 | 5.94e-7 ✓ sig. |
| Right bundle branch block | Right cardiac ventricular dilatation | 0.500 | 1 | 6.49e-5 | 2.33e-4 ✓ sig. |
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Hyperandrogenism | 0.167 | 1 | 3.25e-4 | 7.71e-4 ✓ sig. |
| Hyperandrogenism | Right bundle branch block | 0.167 | 1 | 3.25e-4 | 7.71e-4 ✓ sig. |
| Hyperandrogenism | Right cardiac ventricular dilatation | 0.167 | 1 | 3.25e-4 | 7.71e-4 ✓ sig. |
| Right bundle branch block | Right ventricular hypertrophy | 0.143 | 1 | 3.90e-4 | 8.67e-4 ✓ sig. |
| Right cardiac ventricular dilatation | Right ventricular hypertrophy | 0.143 | 1 | 3.90e-4 | 8.67e-4 ✓ sig. |