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 271
7
Diseases
39
Unique genes
0.150
Avg. similarity score
Chudley-mccullough syndrome
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.
Chudley-mccullough syndrome
Neonatal anemia
Perinatal hemolytic anemia
Spherocytosis
Hereditary elliptocytosis
Chagas cardiomyopathy
hereditary spherocytosis
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Chudley-mccullough syndrome | 5 | 5 | 3 |
| Neonatal anemia | 5 | 5 | 1 |
| Perinatal hemolytic anemia | 5 | 5 | 1 |
| Spherocytosis | 5 | 5 | 10 |
| Hereditary elliptocytosis | 4 | 4 | 7 |
| Chagas cardiomyopathy | 3 | 3 | 25 |
| hereditary spherocytosis | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| SPTB | 6 / 7 | Chagas cardiomyopathy, Chudley-mccullough syndrome, Hereditary elliptocytosis, Neonatal anemia and 2 more |
| ANK1 | 2 / 7 | hereditary spherocytosis, Spherocytosis |
| OR10Z1 | 2 / 7 | Hereditary elliptocytosis, Spherocytosis |
| SLC4A1 | 2 / 7 | Hereditary elliptocytosis, Spherocytosis |
| SPTA1 | 2 / 7 | Hereditary elliptocytosis, Spherocytosis |
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 ⇵ |
|---|---|---|---|---|---|
| Pyrimidine biosynthesis | Reactome | 3 / 3 | 308× | 3.17e-8 | 2.40e-6 ✓ sig. |
| Interaction between L1 and Ankyrins | Reactome | 3 / 13 | 71.1× | 8.85e-6 | 3.04e-4 ✓ sig. |
| COPI-mediated anterograde transport | Reactome | 4 / 101 | 12.2× | 3.09e-4 | 5.50e-3 ✓ sig. |
| Pyrimidine metabolism | KEGG | 3 / 58 | 15.9× | 8.63e-4 | 1.21e-2 ✓ sig. |
| NCAM signaling for neurite out-growth | Reactome | 2 / 20 | 30.8× | 1.88e-3 | 2.18e-2 ✓ sig. |
| Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) | Reactome | 1 / 1 | 308× | 3.25e-3 | 3.26e-2 ✓ sig. |
| Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) | Reactome | 1 / 1 | 308× | 3.25e-3 | 3.26e-2 ✓ sig. |
| Activation and oligomerization of BAK protein | Reactome | 1 / 2 | 154× | 6.48e-3 | 5.19e-2 |
| RAF/MAP kinase cascade | Reactome | 3 / 124 | 7.5× | 7.49e-3 | 5.69e-2 |
| Neurofascin interactions | Reactome | 1 / 4 | 77.0× | 1.29e-2 | 7.95e-2 |
| Biosynthesis of cofactors | KEGG | 3 / 154 | 6.0× | 1.35e-2 | 8.16e-2 |
| GRB7 events in ERBB2 signaling | Reactome | 1 / 5 | 61.6× | 1.61e-2 | 9.11e-2 |
| Release of apoptotic factors from the mitochondria | Reactome | 1 / 5 | 61.6× | 1.61e-2 | 9.11e-2 |
| Melanoma | KEGG | 2 / 73 | 8.4× | 2.34e-2 | 1.12e-1 |
| Hydrolysis of LPC | Reactome | 1 / 9 | 34.2× | 2.89e-2 | 1.26e-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 ⇵ |
|---|---|---|---|---|---|
| 'de novo' UMP biosynthetic process | GO:0044205 | 3 / 3 | 479× | 8.40e-9 | 1.48e-6 ✓ sig. |
| UDP biosynthetic process | GO:0006225 | 3 / 5 | 287× | 8.38e-8 | 1.04e-5 ✓ sig. |
| 'de novo' pyrimidine nucleobase biosynthetic process | GO:0006207 | 3 / 6 | 240× | 1.67e-7 | 1.87e-5 ✓ sig. |
| pyrimidine nucleotide biosynthetic process | GO:0006221 | 3 / 9 | 160× | 7.00e-7 | 6.22e-5 ✓ sig. |
| actin filament capping | GO:0051693 | 3 / 19 | 75.7× | 7.96e-6 | 4.36e-4 ✓ sig. |
| positive regulation of protein localization to cell cortex | GO:1904778 | 2 / 5 | 192× | 4.23e-5 | 1.59e-3 ✓ sig. |
| endoplasmic reticulum calcium ion homeostasis | GO:0032469 | 2 / 19 | 50.4× | 7.10e-4 | 1.21e-2 ✓ sig. |
| actin cytoskeleton organization | GO:0030036 | 4 / 234 | 8.2× | 1.40e-3 | 1.84e-2 ✓ sig. |
| animal organ regeneration | GO:0031100 | 2 / 28 | 34.2× | 1.55e-3 | 1.95e-2 ✓ sig. |
| negative regulation of leukocyte adhesion to arterial endothelial cell | GO:1904998 | 1 / 1 | 479× | 2.09e-3 | 2.31e-2 ✓ sig. |
| ERBB3 signaling pathway | GO:0038129 | 1 / 1 | 479× | 2.09e-3 | 2.31e-2 ✓ sig. |
| positive regulation of peptidyl-tyrosine autophosphorylation | GO:1900086 | 1 / 1 | 479× | 2.09e-3 | 2.31e-2 ✓ sig. |
| pH elevation | GO:0045852 | 1 / 1 | 479× | 2.09e-3 | 2.31e-2 ✓ sig. |
| negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | GO:2001240 | 2 / 37 | 25.9× | 2.70e-3 | 2.67e-2 ✓ sig. |
| blood vessel remodeling | GO:0001974 | 2 / 42 | 22.8× | 3.47e-3 | 3.06e-2 ✓ sig. |