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 511
5
Diseases
5
Unique genes
0.367
Avg. similarity score
Conductive hearing loss
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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Conductive hearing loss
Deafness autosomal dominant type 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-zweymueller syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Conductive hearing loss | 4 | 4 | 5 |
| Deafness autosomal dominant type 13 | 4 | 4 | 1 |
| Deafness, autosomal recessive 53 | 4 | 4 | 1 |
| Fibrochondrogenesis 2 | 4 | 4 | 1 |
| Weissenbacher-zweymueller syndrome | 4 | 4 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| COL11A2 | 5 / 5 | Conductive hearing loss, Deafness autosomal dominant type 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2 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 ⇵ |
|---|---|---|---|---|---|
| Transport of connexons to the plasma membrane | Reactome | 1 / 1 | 2,402× | 4.16e-4 | 5.79e-3 ✓ sig. |
| OAS antiviral response | Reactome | 1 / 9 | 267× | 3.74e-3 | 2.98e-2 ✓ sig. |
| Cell-extracellular matrix interactions | Reactome | 1 / 12 | 200× | 4.99e-3 | 3.64e-2 ✓ sig. |
| GP1b-IX-V activation signalling | Reactome | 1 / 12 | 200× | 4.99e-3 | 3.64e-2 ✓ sig. |
| RHO GTPases activate PAKs | Reactome | 1 / 23 | 104× | 9.54e-3 | 5.53e-2 |
| Non-integrin membrane-ECM interactions | Reactome | 1 / 24 | 100× | 9.95e-3 | 5.67e-2 |
| MET activates PTK2 signaling | Reactome | 1 / 30 | 80.1× | 1.24e-2 | 6.49e-2 |
| Collagen chain trimerization | Reactome | 1 / 44 | 54.6× | 1.82e-2 | 8.12e-2 |
| Assembly of collagen fibrils and other multimeric structures | Reactome | 1 / 51 | 47.1× | 2.11e-2 | 8.82e-2 |
| Collagen degradation | Reactome | 1 / 52 | 46.2× | 2.15e-2 | 8.93e-2 |
| Collagen biosynthesis and modifying enzymes | Reactome | 1 / 67 | 35.9× | 2.76e-2 | 1.03e-1 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | Reactome | 1 / 76 | 31.6× | 3.12e-2 | 1.11e-1 |
| Protein digestion and absorption | KEGG | 1 / 103 | 23.3× | 4.22e-2 | 1.31e-1 |
| Platelet degranulation | Reactome | 1 / 123 | 19.5× | 5.02e-2 | 1.45e-1 |
| Transcriptional misregulation in cancer | KEGG | 1 / 198 | 12.1× | 7.98e-2 | 1.89e-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 ⇵ |
|---|---|---|---|---|---|
| sensory perception of sound | GO:0007605 | 3 / 162 | 69.2× | 6.31e-6 | 3.81e-4 ✓ sig. |
| otic vesicle morphogenesis | GO:0071600 | 1 / 1 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| regulation of membrane repolarization during atrial cardiac muscle cell action potential | GO:1905000 | 1 / 1 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| regulation of membrane repolarization during cardiac muscle cell action potential | GO:1905031 | 1 / 1 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| positive regulation of secondary heart field cardioblast proliferation | GO:0072513 | 1 / 3 | 1,246× | 8.03e-4 | 1.28e-2 ✓ sig. |
| tubulin deacetylation | GO:0090042 | 1 / 3 | 1,246× | 8.03e-4 | 1.28e-2 ✓ sig. |
| formation of radial glial scaffolds | GO:0021943 | 1 / 4 | 934× | 1.07e-3 | 1.51e-2 ✓ sig. |
| establishment of Sertoli cell barrier | GO:0097368 | 1 / 4 | 934× | 1.07e-3 | 1.51e-2 ✓ sig. |
| soft palate development | GO:0060023 | 1 / 5 | 747× | 1.34e-3 | 1.71e-2 ✓ sig. |
| adenylate cyclase-inhibiting dopamine receptor signaling pathway | GO:0007195 | 1 / 5 | 747× | 1.34e-3 | 1.71e-2 ✓ sig. |
| protein localization to bicellular tight junction | GO:1902396 | 1 / 6 | 623× | 1.60e-3 | 1.88e-2 ✓ sig. |
| gap junction-mediated intercellular transport | GO:1990349 | 1 / 6 | 623× | 1.60e-3 | 1.88e-2 ✓ sig. |
| negative regulation of transcription by RNA polymerase I | GO:0016479 | 1 / 7 | 534× | 1.87e-3 | 2.05e-2 ✓ sig. |
| mesodermal cell fate specification | GO:0007501 | 1 / 7 | 534× | 1.87e-3 | 2.05e-2 ✓ sig. |
| striated muscle tissue development | GO:0014706 | 1 / 7 | 534× | 1.87e-3 | 2.05e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Deafness autosomal dominant type 13 | Weissenbacher-zweymueller syndrome | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Deafness autosomal dominant type 13 | Deafness, autosomal recessive 53 | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Deafness autosomal dominant type 13 | Fibrochondrogenesis 2 | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Deafness, autosomal recessive 53 | Weissenbacher-zweymueller syndrome | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Deafness, autosomal recessive 53 | Fibrochondrogenesis 2 | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Fibrochondrogenesis 2 | Weissenbacher-zweymueller syndrome | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Conductive hearing loss | Deafness autosomal dominant type 13 | 0.167 | 1 | 3.23e-4 | 6.41e-4 ✓ sig. |
| Conductive hearing loss | Deafness, autosomal recessive 53 | 0.167 | 1 | 3.23e-4 | 6.41e-4 ✓ sig. |
| Conductive hearing loss | Fibrochondrogenesis 2 | 0.167 | 1 | 3.23e-4 | 6.41e-4 ✓ sig. |
| Conductive hearing loss | Weissenbacher-zweymueller syndrome | 0.167 | 1 | 3.23e-4 | 6.41e-4 ✓ sig. |