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 238
7
Diseases
209
Unique genes
0.138
Avg. similarity score
Retinopathy
Most-connected disease (6 links)
Disease
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Retinopathy
Age-related macular degeneration
Atrophic macular degeneration
Macular degeneration
ADAM9-related retinopathy
RD3-related retinopathy
Retinal detachment
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Retinopathy | 6 | 6 | 52 |
| Age-related macular degeneration | 3 | 3 | 83 |
| Atrophic macular degeneration | 3 | 3 | 56 |
| Macular degeneration | 3 | 3 | 67 |
| ADAM9-related retinopathy | 1 | 1 | 1 |
| RD3-related retinopathy | 1 | 1 | 1 |
| Retinal detachment | 1 | 1 | 46 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| CFH | 5 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinal detachment and 1 more |
| RDH5 | 5 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinal detachment and 1 more |
| ABCA4 | 4 / 7 | Age-related macular degeneration, Macular degeneration, Retinal detachment, Retinopathy |
| ARMS2 | 4 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinopathy |
| C2 | 4 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinopathy |
| C3 | 4 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinopathy |
| CETP | 4 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinopathy |
| CFI | 4 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, Retinopathy |
| APOE | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| C9 | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| CFB | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| HERPUD1 | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| KCNT2 | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| RAD51B | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| RPGR | 3 / 7 | Atrophic macular degeneration, Macular degeneration, Retinopathy |
| SKIC2 | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| SLC16A8 | 3 / 7 | Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration |
| ABCA1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| ABHD2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| ACAD10 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| ADAM9 | 2 / 7 | ADAM9-related retinopathy, Retinopathy |
| ALDH1A2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| ANKRD7 | 2 / 7 | Retinal detachment, Retinopathy |
| ARHGAP21 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| B3GLCT | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| CD46 | 2 / 7 | Macular degeneration, Retinopathy |
| CFHR1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| CFHR4 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| CFHR5 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| CLSTN2 | 2 / 7 | Retinal detachment, Retinopathy |
| CNN2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| COL22A1 | 2 / 7 | Retinal detachment, Retinopathy |
| COL4A3 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| COL4A4 | 2 / 7 | Age-related macular degeneration, Retinopathy |
| COL8A1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| CRP | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| CTRB2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| CX3CR1 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| ERCC6 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| EXOC3L2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| EYS | 2 / 7 | Retinal detachment, Retinopathy |
| FAT3 | 2 / 7 | Retinal detachment, Retinopathy |
| FUT6 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| GSTM1 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| HMCN1 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| HTRA1 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| KDR | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| LIPC | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| MARK4 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| MMP9 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| NPLOC4 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| PBX2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| PDGFB | 2 / 7 | Macular degeneration, Retinopathy |
| PILRA | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| PON1 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| RAX2 | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| RD3 | 2 / 7 | RD3-related retinopathy, Retinopathy |
| RPL3 | 2 / 7 | Macular degeneration, Retinopathy |
| SOD2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| SPEF2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| SRPK2 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| SYN3 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| TGFBR1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| TMEM97 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| TRPM1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| TRPM3 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| VEGFA | 2 / 7 | Age-related macular degeneration, Macular degeneration |
| WHR1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
| WWOX | 2 / 7 | Retinal detachment, Retinopathy |
| ZFP1 | 2 / 7 | Age-related macular degeneration, Atrophic macular degeneration |
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 ⇵ |
|---|---|---|---|---|---|
| Regulation of Complement cascade | Reactome | 12 / 47 | 14.7× | 1.72e-11 | 2.93e-9 ✓ sig. |
| Complement and coagulation cascades | KEGG | 12 / 88 | 7.8× | 3.62e-8 | 2.69e-6 ✓ sig. |
| Collagen chain trimerization | Reactome | 8 / 44 | 10.4× | 7.61e-7 | 3.85e-5 ✓ sig. |
| Fluid shear stress and atherosclerosis | KEGG | 13 / 141 | 5.3× | 1.03e-6 | 5.02e-5 ✓ sig. |
| Collagen biosynthesis and modifying enzymes | Reactome | 9 / 67 | 7.7× | 2.20e-6 | 9.54e-5 ✓ sig. |
| Assembly of collagen fibrils and other multimeric structures | Reactome | 8 / 51 | 9.0× | 2.46e-6 | 1.06e-4 ✓ sig. |
| Non-integrin membrane-ECM interactions | Reactome | 6 / 24 | 14.4× | 2.68e-6 | 1.13e-4 ✓ sig. |
| Collagen degradation | Reactome | 8 / 52 | 8.8× | 2.87e-6 | 1.20e-4 ✓ sig. |
| Protein digestion and absorption | KEGG | 10 / 103 | 5.6× | 1.18e-5 | 3.86e-4 ✓ sig. |
| The canonical retinoid cycle in rods (twilight vision) | Reactome | 5 / 20 | 14.4× | 1.91e-5 | 5.77e-4 ✓ sig. |
| Signaling by PDGF | Reactome | 6 / 33 | 10.4× | 1.93e-5 | 5.83e-4 ✓ sig. |
| ECM-receptor interaction | KEGG | 9 / 89 | 5.8× | 2.35e-5 | 6.81e-4 ✓ sig. |
| NCAM1 interactions | Reactome | 5 / 21 | 13.7× | 2.47e-5 | 7.09e-4 ✓ sig. |
| Focal adhesion | KEGG | 13 / 203 | 3.7× | 5.47e-5 | 1.38e-3 ✓ sig. |
| Relaxin signaling pathway | KEGG | 10 / 130 | 4.4× | 8.91e-5 | 2.04e-3 ✓ 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 ⇵ |
|---|---|---|---|---|---|
| visual perception | GO:0007601 | 26 / 215 | 10.8× | 1.38e-19 | 2.09e-16 ✓ sig. |
| complement activation | GO:0006956 | 10 / 35 | 25.5× | 3.55e-12 | 1.43e-9 ✓ sig. |
| complement activation, alternative pathway | GO:0006957 | 5 / 16 | 27.9× | 6.59e-7 | 5.90e-5 ✓ sig. |
| retina development in camera-type eye | GO:0060041 | 8 / 85 | 8.4× | 4.93e-6 | 2.97e-4 ✓ sig. |
| detection of light stimulus involved in visual perception | GO:0050908 | 5 / 24 | 18.6× | 5.96e-6 | 3.45e-4 ✓ sig. |
| phototransduction, visible light | GO:0007603 | 4 / 13 | 27.5× | 1.00e-5 | 5.24e-4 ✓ sig. |
| photoreceptor cell maintenance | GO:0045494 | 6 / 45 | 11.9× | 1.03e-5 | 5.34e-4 ✓ sig. |
| glutathione metabolic process | GO:0006749 | 6 / 49 | 10.9× | 1.71e-5 | 7.92e-4 ✓ sig. |
| retina homeostasis | GO:0001895 | 4 / 15 | 23.8× | 1.88e-5 | 8.56e-4 ✓ sig. |
| photoreceptor cell outer segment organization | GO:0035845 | 4 / 15 | 23.8× | 1.88e-5 | 8.56e-4 ✓ sig. |
| positive regulation of apoptotic process | GO:0043065 | 14 / 326 | 3.8× | 1.92e-5 | 8.71e-4 ✓ sig. |
| cellular response to light stimulus | GO:0071482 | 4 / 16 | 22.4× | 2.49e-5 | 1.06e-3 ✓ sig. |
| response to hypoxia | GO:0001666 | 10 / 176 | 5.1× | 2.99e-5 | 1.22e-3 ✓ sig. |
| reverse cholesterol transport | GO:0043691 | 4 / 17 | 21.0× | 3.23e-5 | 1.29e-3 ✓ sig. |
| extracellular matrix organization | GO:0030198 | 9 / 145 | 5.5× | 3.76e-5 | 1.45e-3 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Age-related macular degeneration | Atrophic macular degeneration | 0.489 | 46 | 2.54e-101 | 3.09e-99 ✓ sig. |
| Age-related macular degeneration | Macular degeneration | 0.208 | 26 | 3.10e-43 | 1.46e-41 ✓ sig. |
| Atrophic macular degeneration | Macular degeneration | 0.148 | 16 | 8.72e-26 | 2.34e-24 ✓ sig. |
| Macular degeneration | Retinopathy | 0.111 | 12 | 2.94e-18 | 5.41e-17 ✓ sig. |
| Retinal detachment | Retinopathy | 0.100 | 9 | 2.76e-14 | 3.95e-13 ✓ sig. |
| Age-related macular degeneration | Retinopathy | 0.071 | 9 | 7.50e-12 | 8.80e-11 ✓ sig. |
| Atrophic macular degeneration | Retinopathy | 0.079 | 8 | 1.21e-11 | 1.40e-10 ✓ sig. |
| ADAM9-related retinopathy | Retinopathy | 0.019 | 1 | 3.38e-3 | 4.37e-3 ✓ sig. |
| RD3-related retinopathy | Retinopathy | 0.019 | 1 | 3.38e-3 | 4.37e-3 ✓ sig. |