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 380
5
Diseases
14
Unique genes
0.134
Avg. similarity score
Apraxia
Most-connected disease (4 links)
Disease
Searched: Marinesco-sjogren syndrome
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Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Marinesco-sjogren syndrome
Apraxia
Cataplexy
Ophthalmoplegia
Developmental delay with variable intellectual disability
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Apraxia | 4 | 4 | 10 |
| Cataplexy | 2 | 2 | 1 |
| Ophthalmoplegia | 2 | 2 | 2 |
| Developmental delay with variable intellectual disability | 1 | 1 | 2 |
| Marinesco-sjogren syndrome | 1 | 1 | 3 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| NPC1 | 3 / 5 | Apraxia, Cataplexy, Ophthalmoplegia |
| JARID2 | 2 / 5 | Apraxia, Developmental delay with variable intellectual disability |
| SIL1 | 2 / 5 | Apraxia, Marinesco-sjogren syndrome |
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)
None of these pathways reaches significance (all FDR q ≥ 0.05). They’re the best candidates found, but treat them as weak evidence for why this cluster groups together.
| Pathway ⇵ | Source ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Virion - Ebolavirus, Lyssavirus and Morbillivirus | KEGG | 1 / 12 | 71.5× | 1.39e-2 | 8.64e-2 |
| LDL clearance | Reactome | 1 / 18 | 47.7× | 2.08e-2 | 1.09e-1 |
| Adherens junctions interactions | Reactome | 1 / 32 | 26.8× | 3.67e-2 | 1.49e-1 |
| Cholesterol metabolism | KEGG | 1 / 51 | 16.8× | 5.79e-2 | 1.90e-1 |
| Synthesis of PIPs at the plasma membrane | Reactome | 1 / 51 | 16.8× | 5.79e-2 | 1.90e-1 |
| Hedgehog signaling pathway | KEGG | 1 / 56 | 15.3× | 6.34e-2 | 2.00e-1 |
| Hedgehog 'off' state | Reactome | 1 / 56 | 15.3× | 6.34e-2 | 2.00e-1 |
| Degradation of GLI1 by the proteasome | Reactome | 1 / 57 | 15.1× | 6.45e-2 | 2.02e-1 |
| GLI3 is processed to GLI3R by the proteasome | Reactome | 1 / 60 | 14.3× | 6.78e-2 | 2.07e-1 |
| Basal cell carcinoma | KEGG | 1 / 63 | 13.6× | 7.10e-2 | 2.13e-1 |
| Hedgehog 'on' state | Reactome | 1 / 70 | 12.3× | 7.86e-2 | 2.25e-1 |
| Inositol phosphate metabolism | KEGG | 1 / 73 | 11.8× | 8.19e-2 | 2.29e-1 |
| PRC2 methylates histones and DNA | Reactome | 1 / 73 | 11.8× | 8.19e-2 | 2.29e-1 |
| Polycomb repressive complex | KEGG | 1 / 83 | 10.3× | 9.26e-2 | 2.44e-1 |
| Lysosome | KEGG | 1 / 133 | 6.5× | 1.44e-1 | 3.11e-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 ⇵ |
|---|---|---|---|---|---|
| negative regulation of neuron remodeling | GO:1904800 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| negative regulation of branching morphogenesis of a nerve | GO:2000173 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| caudate nucleus development | GO:0021757 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| putamen development | GO:0021758 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| cyclodextrin metabolic process | GO:2000900 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| protein localization to pericentric heterochromatin | GO:1902682 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| positive regulation of cellular response to drug | GO:2001040 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| positive regulation of renal water transport | GO:2001153 | 1 / 1 | 1,335× | 7.49e-4 | 1.30e-2 ✓ sig. |
| smoothened signaling pathway involved in spinal cord motor neuron cell fate specification | GO:0021776 | 1 / 2 | 667× | 1.50e-3 | 1.98e-2 ✓ sig. |
| negative regulation of RNA biosynthetic process | GO:1902679 | 1 / 2 | 667× | 1.50e-3 | 1.98e-2 ✓ sig. |
| liver development | GO:0001889 | 2 / 87 | 30.7× | 1.88e-3 | 2.26e-2 ✓ sig. |
| negative regulation of protein homooligomerization | GO:0032463 | 1 / 3 | 445× | 2.25e-3 | 2.50e-2 ✓ sig. |
| smoothened signaling pathway involved in ventral spinal cord interneuron specification | GO:0021775 | 1 / 3 | 445× | 2.25e-3 | 2.50e-2 ✓ sig. |
| intracellular lipid transport | GO:0032365 | 1 / 3 | 445× | 2.25e-3 | 2.50e-2 ✓ sig. |
| negative regulation of dendrite extension | GO:1903860 | 1 / 4 | 334× | 2.99e-3 | 2.93e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Cataplexy | Ophthalmoplegia | 0.333 | 1 | 1.30e-4 | 3.93e-4 ✓ sig. |
| Apraxia | Cataplexy | 0.091 | 1 | 6.49e-4 | 1.24e-3 ✓ sig. |
| Apraxia | Ophthalmoplegia | 0.083 | 1 | 1.30e-3 | 2.06e-3 ✓ sig. |
| Apraxia | Developmental delay with variable intellectual disability | 0.083 | 1 | 1.30e-3 | 2.06e-3 ✓ sig. |
| Apraxia | Marinesco-sjogren syndrome | 0.077 | 1 | 1.95e-3 | 2.83e-3 ✓ sig. |