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 211
8
Diseases
74
Unique genes
0.095
Avg. similarity score
Congenital neutropenia
Most-connected disease (6 links)
Disease
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Congenital neutropenia
Severe congenital neutropenia
Neutropenia
Neutrophilic leukemia
Congenital myelofibrosis with anemia
Neutropenia, nonimmune chronic idiopathic, adult
Thiopurine s-methyltransferase deficiency
immunodeficiency 76
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Congenital neutropenia | 6 | 6 | 17 |
| Severe congenital neutropenia | 5 | 5 | 22 |
| Neutropenia | 4 | 4 | 57 |
| Neutrophilic leukemia | 3 | 3 | 1 |
| Congenital myelofibrosis with anemia | 2 | 2 | 1 |
| Neutropenia, nonimmune chronic idiopathic, adult | 2 | 2 | 1 |
| Thiopurine s-methyltransferase deficiency | 1 | 1 | 1 |
| immunodeficiency 76 | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| CSF3R | 4 / 8 | Congenital neutropenia, Neutropenia, Neutrophilic leukemia, Severe congenital neutropenia |
| CLPB | 3 / 8 | Congenital neutropenia, Neutropenia, Severe congenital neutropenia |
| ELANE | 3 / 8 | Congenital neutropenia, Neutropenia, Severe congenital neutropenia |
| GFI1 | 3 / 8 | Congenital neutropenia, Neutropenia, nonimmune chronic idiopathic, adult, Severe congenital neutropenia |
| JAGN1 | 3 / 8 | Congenital neutropenia, Neutropenia, Severe congenital neutropenia |
| RBSN | 3 / 8 | Congenital myelofibrosis with anemia, Congenital neutropenia, Severe congenital neutropenia |
| SEC61A1 | 3 / 8 | Congenital neutropenia, Neutropenia, Severe congenital neutropenia |
| SRP19 | 3 / 8 | Congenital neutropenia, Neutropenia, Severe congenital neutropenia |
| SRP68 | 3 / 8 | Congenital neutropenia, Neutropenia, Severe congenital neutropenia |
| FCHO1 | 2 / 8 | Congenital neutropenia, immunodeficiency 76 |
| G6PC3 | 2 / 8 | Congenital neutropenia, Severe congenital neutropenia |
| HAX1 | 2 / 8 | Congenital neutropenia, Severe congenital neutropenia |
| SMARCD2 | 2 / 8 | Neutropenia, Severe congenital neutropenia |
| SRP54 | 2 / 8 | Congenital neutropenia, Severe congenital neutropenia |
| TCIRG1 | 2 / 8 | Congenital neutropenia, Severe congenital neutropenia |
| TPMT | 2 / 8 | Neutropenia, Thiopurine s-methyltransferase deficiency |
| VPS45 | 2 / 8 | Congenital neutropenia, Severe congenital neutropenia |
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 ⇵ |
|---|---|---|---|---|---|
| Protein export | KEGG | 5 / 31 | 26.2× | 1.16e-6 | 5.56e-5 ✓ sig. |
| Coronavirus disease - COVID-19 | KEGG | 10 / 238 | 6.8× | 1.83e-6 | 8.15e-5 ✓ sig. |
| Malaria | KEGG | 5 / 50 | 16.2× | 1.32e-5 | 4.23e-4 ✓ sig. |
| Cytokine-cytokine receptor interaction | KEGG | 10 / 298 | 5.4× | 1.34e-5 | 4.29e-4 ✓ sig. |
| Rheumatoid arthritis | KEGG | 6 / 95 | 10.3× | 2.51e-5 | 7.19e-4 ✓ sig. |
| Tuberculosis | KEGG | 7 / 181 | 6.3× | 1.21e-4 | 2.61e-3 ✓ sig. |
| Interleukin-10 signaling | Reactome | 4 / 47 | 13.8× | 1.94e-4 | 3.82e-3 ✓ sig. |
| Osteoclast differentiation | KEGG | 6 / 142 | 6.9× | 2.35e-4 | 4.44e-3 ✓ sig. |
| Hypertrophic cardiomyopathy | KEGG | 5 / 99 | 8.2× | 3.53e-4 | 6.09e-3 ✓ sig. |
| Hematopoietic cell lineage | KEGG | 5 / 100 | 8.1× | 3.70e-4 | 6.32e-3 ✓ sig. |
| Dilated cardiomyopathy | KEGG | 5 / 105 | 7.7× | 4.63e-4 | 7.51e-3 ✓ sig. |
| Influenza A | KEGG | 6 / 173 | 5.6× | 6.75e-4 | 1.01e-2 ✓ sig. |
| Antifolate resistance | KEGG | 3 / 30 | 16.2× | 8.09e-4 | 1.16e-2 ✓ sig. |
| Leishmaniasis | KEGG | 4 / 78 | 8.3× | 1.34e-3 | 1.69e-2 ✓ sig. |
| Drug metabolism - other enzymes | KEGG | 4 / 81 | 8.0× | 1.54e-3 | 1.89e-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 ⇵ |
|---|---|---|---|---|---|
| SRP-dependent cotranslational protein targeting to membrane | GO:0006614 | 5 / 10 | 126× | 2.11e-10 | 5.58e-8 ✓ sig. |
| granulocyte differentiation | GO:0030851 | 4 / 15 | 67.3× | 2.99e-7 | 3.04e-5 ✓ sig. |
| granulocyte colony-stimulating factor signaling pathway | GO:0038158 | 3 / 5 | 152× | 5.93e-7 | 5.40e-5 ✓ sig. |
| neutrophil chemotaxis | GO:0030593 | 5 / 55 | 23.0× | 2.53e-6 | 1.74e-4 ✓ sig. |
| defense response | GO:0006952 | 7 / 163 | 10.8× | 3.72e-6 | 2.37e-4 ✓ sig. |
| cotranslational protein targeting to membrane | GO:0006613 | 3 / 10 | 75.8× | 7.01e-6 | 3.93e-4 ✓ sig. |
| SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition | GO:0006617 | 3 / 14 | 54.1× | 2.10e-5 | 9.35e-4 ✓ sig. |
| protein targeting to ER | GO:0045047 | 3 / 15 | 50.5× | 2.62e-5 | 1.10e-3 ✓ sig. |
| response to hypoxia | GO:0001666 | 6 / 176 | 8.6× | 6.99e-5 | 2.32e-3 ✓ sig. |
| positive regulation of macrophage derived foam cell differentiation | GO:0010744 | 3 / 21 | 36.1× | 7.53e-5 | 2.45e-3 ✓ sig. |
| inflammatory response | GO:0006954 | 9 / 467 | 4.9× | 9.22e-5 | 2.84e-3 ✓ sig. |
| positive regulation of fever generation | GO:0031622 | 2 / 4 | 126× | 9.23e-5 | 2.85e-3 ✓ sig. |
| cellular response to lipopolysaccharide | GO:0071222 | 6 / 187 | 8.1× | 9.76e-5 | 2.97e-3 ✓ sig. |
| cell morphogenesis | GO:0000902 | 5 / 119 | 10.6× | 1.09e-4 | 3.23e-3 ✓ sig. |
| cardiac muscle cell proliferation | GO:0060038 | 3 / 28 | 27.1× | 1.82e-4 | 4.73e-3 ✓ sig. |