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 168
9
Diseases
52
Unique genes
0.162
Avg. similarity score
Axonal hereditary motor and sensory neuropathy
Most-connected disease (5 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.
Axonal hereditary motor and sensory neuropathy
Charcot-Marie-Tooth disease type 2A2
Hereditary motor and sensory neuropathy
multiple symmetric lipomatosis with partial lipodystrophy
Multiple system atrophy
Autoimmune neurological syndrome
Charcot-Marie-Tooth disease dominant intermediate E
Rib fracture
neuropathy, hereditary motor and sensory, type 6B
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Axonal hereditary motor and sensory neuropathy | 5 | 5 | 1 |
| Charcot-Marie-Tooth disease type 2A2 | 5 | 5 | 1 |
| Hereditary motor and sensory neuropathy | 5 | 5 | 7 |
| multiple symmetric lipomatosis with partial lipodystrophy | 5 | 5 | 1 |
| Multiple system atrophy | 4 | 4 | 30 |
| Autoimmune neurological syndrome | 3 | 3 | 16 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | 1 | 1 |
| Rib fracture | 1 | 1 | 2 |
| neuropathy, hereditary motor and sensory, type 6B | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| MFN2 | 6 / 9 | Autoimmune neurological syndrome, Axonal hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy and 2 more |
| INF2 | 2 / 9 | Charcot-Marie-Tooth disease dominant intermediate E, Hereditary motor and sensory neuropathy |
| SLC25A46 | 2 / 9 | Hereditary motor and sensory neuropathy, neuropathy, hereditary motor and sensory, type 6B |
| TENM2 | 2 / 9 | Multiple system atrophy, Rib fracture |
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 ⇵ |
|---|---|---|---|---|---|
| Elastic fibre formation | Reactome | 2 / 18 | 25.7× | 2.69e-3 | 2.85e-2 ✓ sig. |
| Defective HK1 causes hexokinase deficiency (HK deficiency) | Reactome | 1 / 1 | 231× | 4.33e-3 | 3.98e-2 ✓ sig. |
| Vitamins B6 activation to pyridoxal phosphate | Reactome | 1 / 3 | 77.0× | 1.29e-2 | 7.95e-2 |
| Neomycin, kanamycin and gentamicin biosynthesis | KEGG | 1 / 5 | 46.2× | 2.15e-2 | 1.07e-1 |
| Activation of RAS in B cells | Reactome | 1 / 5 | 46.2× | 2.15e-2 | 1.07e-1 |
| MET activates PTPN11 | Reactome | 1 / 5 | 46.2× | 2.15e-2 | 1.07e-1 |
| Caffeine metabolism | KEGG | 1 / 6 | 38.5× | 2.57e-2 | 1.18e-1 |
| Vitamin B6 metabolism | KEGG | 1 / 6 | 38.5× | 2.57e-2 | 1.18e-1 |
| MET activates PI3K/AKT signaling | Reactome | 1 / 6 | 38.5× | 2.57e-2 | 1.18e-1 |
| Signaling by FGFR3 fusions in cancer | Reactome | 1 / 10 | 23.1× | 4.25e-2 | 1.57e-1 |
| MET receptor recycling | Reactome | 1 / 10 | 23.1× | 4.25e-2 | 1.57e-1 |
| Signaling by FGFR4 in disease | Reactome | 1 / 11 | 21.0× | 4.66e-2 | 1.65e-1 |
| MET activates RAP1 and RAC1 | Reactome | 1 / 11 | 21.0× | 4.66e-2 | 1.65e-1 |
| Ubiquinone and other terpenoid-quinone biosynthesis | KEGG | 1 / 12 | 19.2× | 5.08e-2 | 1.73e-1 |
| Purine catabolism | Reactome | 1 / 12 | 19.2× | 5.08e-2 | 1.73e-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 ⇵ |
|---|---|---|---|---|---|
| late endosome to vacuole transport via multivesicular body sorting pathway | GO:0032511 | 2 / 12 | 59.9× | 4.92e-4 | 9.45e-3 ✓ sig. |
| optic nerve development | GO:0021554 | 2 / 15 | 47.9× | 7.79e-4 | 1.28e-2 ✓ sig. |
| cardiac muscle cell development | GO:0055013 | 2 / 25 | 28.7× | 2.19e-3 | 2.38e-2 ✓ sig. |
| negative regulation of Ras protein signal transduction | GO:0046580 | 2 / 25 | 28.7× | 2.19e-3 | 2.38e-2 ✓ sig. |
| regulation of systemic arterial blood pressure by baroreceptor feedback | GO:0003025 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| glossopharyngeal nerve development | GO:0021563 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| vagus nerve development | GO:0021564 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| dendritic transport | GO:0098935 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| pyrimidine nucleoside transport | GO:0015864 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| regulation of voltage-gated sodium channel activity | GO:1905150 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| relaxation of smooth muscle | GO:0044557 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| Spemann organizer formation at the anterior end of the primitive streak | GO:0060064 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| hypoxanthine catabolic process | GO:0009114 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| xanthine catabolic process | GO:0009115 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |
| pyridoxal 5'-phosphate salvage | GO:0009443 | 1 / 1 | 359× | 2.78e-3 | 2.71e-2 ✓ sig. |