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 276
7
Diseases
7
Unique genes
0.241
Avg. similarity score
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome
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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Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome
Sengers syndrome
Trichohepatoenteric syndrome
Triokinase and fmn cyclase deficiency
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
trichohepatoenteric syndrome 1
trichohepatoenteric syndrome 2
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome | 4 | 4 | 3 |
| Sengers syndrome | 4 | 4 | 4 |
| Trichohepatoenteric syndrome | 4 | 4 | 4 |
| Triokinase and fmn cyclase deficiency | 2 | 2 | 1 |
| mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 2 | 2 | 1 |
| trichohepatoenteric syndrome 1 | 1 | 1 | 1 |
| trichohepatoenteric syndrome 2 | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| AGK | 3 / 7 | Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome, Sengers syndrome, Trichohepatoenteric syndrome |
| SLC25A4 | 3 / 7 | Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Sengers syndrome |
| TKFC | 3 / 7 | Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome, Sengers syndrome, Triokinase and fmn cyclase deficiency |
| SKIC2 | 2 / 7 | Trichohepatoenteric syndrome, trichohepatoenteric syndrome 2 |
| SKIC3 | 2 / 7 | Trichohepatoenteric syndrome, trichohepatoenteric syndrome 1 |
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)
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| apoptotic mitochondrial changes | GO:0008637 | 2 / 20 | 267× | 2.28e-5 | 9.93e-4 ✓ sig. |
| acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure | GO:0003069 | 1 / 1 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| erythrophore differentiation | GO:0048773 | 1 / 1 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| response to magnetism | GO:0071000 | 1 / 1 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| negative regulation of membrane hyperpolarization | GO:1902631 | 1 / 2 | 1,335× | 7.49e-4 | 1.25e-2 ✓ sig. |
| detection of oxygen | GO:0003032 | 1 / 3 | 890× | 1.12e-3 | 1.62e-2 ✓ sig. |
| positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching | GO:1905932 | 1 / 3 | 890× | 1.12e-3 | 1.62e-2 ✓ sig. |
| fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate | GO:0061624 | 1 / 3 | 890× | 1.12e-3 | 1.62e-2 ✓ sig. |
| response to L-ascorbic acid | GO:0033591 | 1 / 4 | 667× | 1.50e-3 | 1.91e-2 ✓ sig. |
| negative regulation of MDA-5 signaling pathway | GO:0039534 | 1 / 4 | 667× | 1.50e-3 | 1.91e-2 ✓ sig. |
| response to silicon dioxide | GO:0034021 | 1 / 4 | 667× | 1.50e-3 | 1.91e-2 ✓ sig. |
| response to isolation stress | GO:0035900 | 1 / 4 | 667× | 1.50e-3 | 1.91e-2 ✓ sig. |
| positive regulation of hydrogen peroxide biosynthetic process | GO:0010729 | 1 / 4 | 667× | 1.50e-3 | 1.91e-2 ✓ sig. |
| response to manganese ion | GO:0010042 | 1 / 5 | 534× | 1.87e-3 | 2.19e-2 ✓ sig. |
| response to superoxide | GO:0000303 | 1 / 5 | 534× | 1.87e-3 | 2.19e-2 ✓ sig. |