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.
← Back to all clusters
Cluster 150
9
Diseases
11
Unique genes
0.237
Avg. similarity score
Vitreoretinal degeneration
Most-connected disease (6 links)
Disease
Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) ·
drag a node to pin it in place · scroll/pinch to zoom.
Vitreoretinal degeneration
ABCA4-related retinopathy
Atrophic retina
Diastolic heart failure
Retinopathy background
Bietti crystalline corneoretinal dystrophy
Cleft palate proliferative retinopathy developmental delay
TSPAN12-related exudative vitreoretinopathy
snowflake vitreoretinal degeneration
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Vitreoretinal degeneration | 6 | 6 | 8 |
| ABCA4-related retinopathy | 5 | 5 | 1 |
| Atrophic retina | 5 | 5 | 1 |
| Diastolic heart failure | 4 | 4 | 2 |
| Retinopathy background | 4 | 4 | 2 |
| Bietti crystalline corneoretinal dystrophy | 3 | 3 | 3 |
| Cleft palate proliferative retinopathy developmental delay | 1 | 1 | 1 |
| TSPAN12-related exudative vitreoretinopathy | 1 | 1 | 1 |
| snowflake vitreoretinal degeneration | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| ABCA4 | 6 / 9 | ABCA4-related retinopathy, Atrophic retina, Bietti crystalline corneoretinal dystrophy, Diastolic heart failure and 2 more |
| KCNJ13 | 2 / 9 | snowflake vitreoretinal degeneration, Vitreoretinal degeneration |
| LRP5 | 2 / 9 | Retinopathy background, Vitreoretinal degeneration |
| LRRC32 | 2 / 9 | Cleft palate proliferative retinopathy developmental delay, Vitreoretinal degeneration |
| TSPAN12 | 2 / 9 | TSPAN12-related exudative vitreoretinopathy, Vitreoretinal 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 ⇵ |
|---|---|---|---|---|---|
| The canonical retinoid cycle in rods (twilight vision) | Reactome | 2 / 20 | 109× | 1.44e-4 | 3.01e-3 ✓ sig. |
| Reversal of alkylation damage by DNA dioxygenases | Reactome | 1 / 2 | 546× | 1.83e-3 | 2.14e-2 ✓ sig. |
| Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling | Reactome | 1 / 6 | 182× | 5.48e-3 | 4.65e-2 ✓ sig. |
| Defective CHST3 causes SEDCJD | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Defective CHST14 causes EDS, musculocontractural type | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Defective CHSY1 causes TPBS | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Negative regulation of TCF-dependent signaling by WNT ligand antagonists | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| RNF mutants show enhanced WNT signaling and proliferation | Reactome | 1 / 8 | 136× | 7.31e-3 | 5.62e-2 |
| Dermatan sulfate biosynthesis | Reactome | 1 / 11 | 99.3× | 1.00e-2 | 6.86e-2 |
| Retinoid cycle disease events | Reactome | 1 / 13 | 84.0× | 1.18e-2 | 7.60e-2 |
| CS/DS degradation | Reactome | 1 / 14 | 78.0× | 1.28e-2 | 7.89e-2 |
| Defective B4GALT7 causes EDS, progeroid type | Reactome | 1 / 20 | 54.6× | 1.82e-2 | 9.77e-2 |
| Defective B3GAT3 causes JDSSDHD | Reactome | 1 / 20 | 54.6× | 1.82e-2 | 9.77e-2 |
| Defective B3GALT6 causes EDSP2 and SEMDJL1 | Reactome | 1 / 20 | 54.6× | 1.82e-2 | 9.77e-2 |
| Chondroitin sulfate biosynthesis | Reactome | 1 / 20 | 54.6× | 1.82e-2 | 9.77e-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 ⇵ |
|---|---|---|---|---|---|
| Norrin signaling pathway | GO:0110135 | 2 / 4 | 849× | 1.89e-6 | 1.37e-4 ✓ sig. |
| retinoid metabolic process | GO:0001523 | 2 / 38 | 89.4× | 2.19e-4 | 5.37e-3 ✓ sig. |
| visual perception | GO:0007601 | 3 / 215 | 23.7× | 2.31e-4 | 5.60e-3 ✓ sig. |
| photoreceptor cell maintenance | GO:0045494 | 2 / 45 | 75.5× | 3.08e-4 | 6.84e-3 ✓ sig. |
| adipose tissue development | GO:0060612 | 2 / 46 | 73.9× | 3.21e-4 | 7.03e-3 ✓ sig. |
| regulation of white fat cell proliferation | GO:0070350 | 1 / 1 | 1,699× | 5.89e-4 | 1.07e-2 ✓ sig. |
| Factor XII activation | GO:0002542 | 1 / 2 | 849× | 1.18e-3 | 1.66e-2 ✓ sig. |
| cell-cell signaling involved in mammary gland development | GO:0060764 | 1 / 2 | 849× | 1.18e-3 | 1.66e-2 ✓ sig. |
| organic hydroxy compound transport | GO:0015850 | 1 / 3 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| phospholipid transfer to membrane | GO:0006649 | 1 / 3 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| retinol transport | GO:0034633 | 1 / 3 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| establishment of protein localization to extracellular region | GO:0035592 | 1 / 3 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| RNA repair | GO:0042245 | 1 / 3 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| regulation of respiratory system process | GO:0044065 | 1 / 3 | 566× | 1.76e-3 | 2.11e-2 ✓ sig. |
| mesodermal cell migration | GO:0008078 | 1 / 4 | 425× | 2.35e-3 | 2.48e-2 ✓ sig. |