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 469
6
Diseases
3
Unique genes
0.417
Avg. similarity score
Caffey syndrome, type 1
Most-connected disease (5 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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Caffey syndrome, type 1
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Encephalopathy, progressive, with amyotrophy and optic atrophy
Hypoparathyroidism-retardation-dysmorphism syndrome
Kenny-caffey syndrome
Sanjad-sakati syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Caffey syndrome, type 1 | 5 | 5 | 1 |
| Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | 5 | 5 | 1 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 5 | 5 | 1 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 5 | 5 | 1 |
| Kenny-caffey syndrome | 5 | 5 | 3 |
| Sanjad-sakati syndrome | 5 | 5 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| TBCE | 6 / 6 | Caffey syndrome, type 1, Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome and 2 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 ⇵ |
|---|---|---|---|---|---|
| O-linked glycosylation | Reactome | 1 / 10 | 400× | 2.50e-3 | 2.23e-2 ✓ sig. |
| Mannose type O-glycan biosynthesis | KEGG | 1 / 23 | 174× | 5.73e-3 | 4.00e-2 ✓ sig. |
| Metabolic pathways | KEGG | 1 / 1,563 | 2.6× | 3.42e-1 | 4.72e-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 ⇵ |
|---|---|---|---|---|---|
| muscle atrophy | GO:0014889 | 1 / 2 | 3,115× | 3.21e-4 | 7.04e-3 ✓ sig. |
| peripheral nervous system neuron axonogenesis | GO:0048936 | 1 / 4 | 1,557× | 6.42e-4 | 1.11e-2 ✓ sig. |
| post-chaperonin tubulin folding pathway | GO:0007023 | 1 / 7 | 890× | 1.12e-3 | 1.55e-2 ✓ sig. |
| protein-DNA covalent cross-linking repair | GO:0106300 | 1 / 9 | 692× | 1.44e-3 | 1.79e-2 ✓ sig. |
| tubulin complex assembly | GO:0007021 | 1 / 10 | 623× | 1.60e-3 | 1.88e-2 ✓ sig. |
| protein autoprocessing | GO:0016540 | 1 / 25 | 249× | 4.01e-3 | 3.01e-2 ✓ sig. |
| developmental growth | GO:0048589 | 1 / 30 | 208× | 4.81e-3 | 3.27e-2 ✓ sig. |
| replication fork processing | GO:0031297 | 1 / 41 | 152× | 6.57e-3 | 3.80e-2 ✓ sig. |
| negative regulation of viral genome replication | GO:0045071 | 1 / 44 | 142× | 7.05e-3 | 3.93e-2 ✓ sig. |
| adult locomotory behavior | GO:0008344 | 1 / 56 | 111× | 8.96e-3 | 4.41e-2 ✓ sig. |
| mitotic spindle organization | GO:0007052 | 1 / 58 | 107× | 9.28e-3 | 4.49e-2 ✓ sig. |
| protein O-linked glycosylation | GO:0006493 | 1 / 71 | 87.7× | 1.14e-2 | 4.93e-2 ✓ sig. |
| post-embryonic development | GO:0009791 | 1 / 82 | 76.0× | 1.31e-2 | 5.30e-2 |
| axonogenesis | GO:0007409 | 1 / 125 | 49.8× | 1.99e-2 | 6.51e-2 |
| DNA replication | GO:0006260 | 1 / 131 | 47.5× | 2.09e-2 | 6.67e-2 |