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 18
22
Diseases
11
Unique genes
0.443
Avg. similarity score
Cooleys anemia
Most-connected disease (18 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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Cooleys anemia
Dominant beta-thalassemia
Hemoglobin c disease
Hemoglobin c beta thalassemia
Hemoglobin d disease
Hemoglobin f disease
Lepore-beta-thalassemia syndrome
Cyanosis
Delta-beta thalassemia
Hemoglobin c-thalassemia disease
Hemoglobin e beta thalassemia
Hemoglobin sc disease
Hemoglobin sd disease
Hemoglobin se disease
Hemoglobinopathy
Thalassemia intermedia
beta-thalassemia HBB/LCRB
erythrocytosis, familial, 6
obsolete sickle cell disease and related diseases
Hemoglobin e disease
Hemoglobinopathy toms river
Angiocentric glioma
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Cooleys anemia | 18 | 18 | 1 |
| Dominant beta-thalassemia | 17 | 17 | 1 |
| Hemoglobin c disease | 16 | 16 | 1 |
| Hemoglobin c beta thalassemia | 15 | 15 | 1 |
| Hemoglobin d disease | 14 | 14 | 1 |
| Hemoglobin f disease | 6 | 6 | 3 |
| Lepore-beta-thalassemia syndrome | 6 | 6 | 2 |
| Cyanosis | 5 | 5 | 5 |
| Delta-beta thalassemia | 5 | 5 | 4 |
| Hemoglobin c-thalassemia disease | 5 | 5 | 1 |
| Hemoglobin e beta thalassemia | 5 | 5 | 1 |
| Hemoglobin sc disease | 5 | 5 | 1 |
| Hemoglobin sd disease | 5 | 5 | 1 |
| Hemoglobin se disease | 5 | 5 | 1 |
| Hemoglobinopathy | 5 | 5 | 1 |
| Thalassemia intermedia | 5 | 5 | 1 |
| beta-thalassemia HBB/LCRB | 5 | 5 | 1 |
| erythrocytosis, familial, 6 | 5 | 5 | 1 |
| obsolete sickle cell disease and related diseases | 5 | 5 | 1 |
| Hemoglobin e disease | 4 | 4 | 5 |
| Hemoglobinopathy toms river | 3 | 3 | 1 |
| Angiocentric glioma | 1 | 1 | 2 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| HBB | 20 / 22 | beta-thalassemia HBB/LCRB, Cooleys anemia, Cyanosis, Delta-beta thalassemia and 16 more |
| HBG2 | 4 / 22 | Cyanosis, Delta-beta thalassemia, Hemoglobin f disease, Hemoglobinopathy toms river |
| HBD | 3 / 22 | Delta-beta thalassemia, Hemoglobin e disease, Lepore-beta-thalassemia syndrome |
| HBG1 | 2 / 22 | Delta-beta thalassemia, Hemoglobin f disease |
| MYB | 2 / 22 | Angiocentric glioma, Hemoglobin e disease |
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 ⇵ |
|---|---|---|---|---|---|
| Factors involved in megakaryocyte development and platelet production | Reactome | 4 / 99 | 44.1× | 1.37e-6 | 6.42e-5 ✓ sig. |
| Malaria | KEGG | 2 / 50 | 43.7× | 9.12e-4 | 1.27e-2 ✓ sig. |
| Adrenaline signalling through Alpha-2 adrenergic receptor | Reactome | 1 / 3 | 364× | 2.75e-3 | 2.89e-2 ✓ sig. |
| Vitamin C (ascorbate) metabolism | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Adrenoceptors | Reactome | 1 / 9 | 121× | 8.22e-3 | 6.07e-2 |
| Erythrocytes take up oxygen and release carbon dioxide | Reactome | 1 / 9 | 121× | 8.22e-3 | 6.07e-2 |
| Scavenging of heme from plasma | Reactome | 1 / 13 | 84.0× | 1.18e-2 | 7.60e-2 |
| Erythrocytes take up carbon dioxide and release oxygen | Reactome | 1 / 13 | 84.0× | 1.18e-2 | 7.60e-2 |
| Biosynthesis of various nucleotide sugars | KEGG | 1 / 15 | 72.8× | 1.37e-2 | 8.23e-2 |
| mRNA decay by 3' to 5' exoribonuclease | Reactome | 1 / 16 | 68.2× | 1.46e-2 | 8.55e-2 |
| Phase I - Functionalization of compounds | Reactome | 1 / 21 | 52.0× | 1.91e-2 | 1.00e-1 |
| G alpha (z) signalling events | Reactome | 1 / 33 | 33.1× | 2.98e-2 | 1.28e-1 |
| African trypanosomiasis | KEGG | 1 / 37 | 29.5× | 3.34e-2 | 1.37e-1 |
| Molecules associated with elastic fibres | Reactome | 1 / 38 | 28.7× | 3.43e-2 | 1.39e-1 |
| Legionellosis | KEGG | 1 / 56 | 19.5× | 5.01e-2 | 1.72e-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 ⇵ |
|---|---|---|---|---|---|
| carbon dioxide transport | GO:0015670 | 4 / 13 | 523× | 4.63e-11 | 1.44e-8 ✓ sig. |
| oxygen transport | GO:0015671 | 4 / 17 | 400× | 1.54e-10 | 4.24e-8 ✓ sig. |
| erythrocyte development | GO:0048821 | 4 / 32 | 212× | 2.32e-9 | 4.70e-7 ✓ sig. |
| embryonic digestive tract development | GO:0048566 | 2 / 19 | 179× | 5.36e-5 | 1.89e-3 ✓ sig. |
| positive regulation of miRNA transcription | GO:1902895 | 2 / 56 | 60.7× | 4.77e-4 | 9.29e-3 ✓ sig. |
| negative regulation of neuron remodeling | GO:1904800 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| negative regulation of branching morphogenesis of a nerve | GO:2000173 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| regulation of timing of catagen | GO:0051794 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| positive regulation of activation-induced cell death of T cells | GO:0070237 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| regulation of apoptotic process involved in outflow tract morphogenesis | GO:1902256 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation | GO:1905006 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| positive regulation of neuron apoptotic process | GO:0043525 | 2 / 65 | 52.3× | 6.42e-4 | 1.13e-2 ✓ sig. |
| regulation of macrophage differentiation | GO:0045649 | 1 / 2 | 849× | 1.18e-3 | 1.66e-2 ✓ sig. |
| regulation of cell development | GO:0060284 | 1 / 2 | 849× | 1.18e-3 | 1.66e-2 ✓ sig. |
| myofibroblast contraction | GO:1990764 | 1 / 2 | 849× | 1.18e-3 | 1.66e-2 ✓ sig. |