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 635
5
Diseases
1
Unique genes
0.500
Avg. similarity score
Pulmonary hypertension, familial primary, 1, with or without hht
Most-connected disease (4 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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Pulmonary hypertension, familial primary, 1, with or without hht
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
Pulmonary venoocclusive disease 1
Right bundle branch block
Right cardiac ventricular dilatation
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Pulmonary hypertension, familial primary, 1, with or without hht | 4 | 4 | 1 |
| Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated | 4 | 4 | 1 |
| Pulmonary venoocclusive disease 1 | 4 | 4 | 1 |
| Right bundle branch block | 4 | 4 | 1 |
| Right cardiac ventricular dilatation | 4 | 4 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| BMPR2 | 5 / 5 | Pulmonary hypertension, familial primary, 1, with or without hht, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, Pulmonary venoocclusive disease 1, Right bundle branch block and 1 more |
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 ⇵ |
|---|---|---|---|---|---|
| Signaling by BMP | Reactome | 1 / 28 | 429× | 2.33e-3 | 2.13e-2 ✓ sig. |
| TGF-beta signaling pathway | KEGG | 1 / 108 | 111× | 8.99e-3 | 5.32e-2 |
| Fluid shear stress and atherosclerosis | KEGG | 1 / 141 | 85.2× | 1.17e-2 | 6.27e-2 |
| Signaling pathways regulating pluripotency of stem cells | KEGG | 1 / 144 | 83.4× | 1.20e-2 | 6.34e-2 |
| Hippo signaling pathway | KEGG | 1 / 157 | 76.5× | 1.31e-2 | 6.68e-2 |
| Axon guidance | KEGG | 1 / 183 | 65.6× | 1.52e-2 | 7.32e-2 |
| Cytokine-cytokine receptor interaction | KEGG | 1 / 298 | 40.3× | 2.48e-2 | 9.70e-2 |
| MicroRNAs in cancer | KEGG | 1 / 311 | 38.6× | 2.59e-2 | 9.96e-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 ⇵ |
|---|---|---|---|---|---|
| semi-lunar valve development | GO:1905314 | 1 / 1 | 18,687× | 5.35e-5 | 1.94e-3 ✓ sig. |
| regulation of lung blood pressure | GO:0014916 | 1 / 2 | 9,344× | 1.07e-4 | 3.25e-3 ✓ sig. |
| negative regulation of cell proliferation involved in heart valve morphogenesis | GO:0003252 | 1 / 2 | 9,344× | 1.07e-4 | 3.25e-3 ✓ sig. |
| positive regulation of locomotion | GO:0040017 | 1 / 3 | 6,229× | 1.61e-4 | 4.34e-3 ✓ sig. |
| pulmonary valve development | GO:0003177 | 1 / 4 | 4,672× | 2.14e-4 | 5.31e-3 ✓ sig. |
| venous blood vessel development | GO:0060841 | 1 / 5 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| negative regulation of chondrocyte proliferation | GO:1902731 | 1 / 5 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| tricuspid valve morphogenesis | GO:0003186 | 1 / 5 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| endochondral bone morphogenesis | GO:0060350 | 1 / 6 | 3,115× | 3.21e-4 | 7.04e-3 ✓ sig. |
| aortic valve development | GO:0003176 | 1 / 7 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| positive regulation of axon extension involved in axon guidance | GO:0048842 | 1 / 7 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| lymphatic endothelial cell differentiation | GO:0060836 | 1 / 7 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| negative regulation of muscle cell differentiation | GO:0051148 | 1 / 10 | 1,869× | 5.35e-4 | 9.88e-3 ✓ sig. |
| negative regulation of vasoconstriction | GO:0045906 | 1 / 10 | 1,869× | 5.35e-4 | 9.88e-3 ✓ sig. |
| lung vasculature development | GO:0060426 | 1 / 11 | 1,699× | 5.89e-4 | 1.06e-2 ✓ sig. |