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 643
5
Diseases
3
Unique genes
0.357
Avg. similarity score
Neurodevelopmental disorder with microcephaly and seizures
Most-connected disease (4 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.
Neurodevelopmental disorder with microcephaly and seizures
Neurodevelopmental disorder with distinct white matter changes
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
Renu syndrome
Neurodevelopmental disorder with poor growth and skeletal anomalies
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | 4 | 4 | 3 |
| Neurodevelopmental disorder with distinct white matter changes | 3 | 3 | 1 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 3 | 3 | 1 |
| Renu syndrome | 3 | 3 | 1 |
| Neurodevelopmental disorder with poor growth and skeletal anomalies | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| RNU4-2 | 4 / 5 | Neurodevelopmental disorder with distinct white matter changes, Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, Neurodevelopmental disorder with microcephaly and seizures, Renu syndrome |
| PCDHGC4 | 2 / 5 | Neurodevelopmental disorder with microcephaly and seizures, Neurodevelopmental disorder with poor growth and skeletal anomalies |
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 ⇵ |
|---|---|---|---|---|---|
| Processing of Intronless Pre-mRNAs | Reactome | 1 / 19 | 211× | 4.74e-3 | 3.52e-2 ✓ sig. |
| Transport of Mature mRNA Derived from an Intronless Transcript | Reactome | 1 / 41 | 97.6× | 1.02e-2 | 5.76e-2 |
| mRNA 3'-end processing | Reactome | 1 / 58 | 69.0× | 1.44e-2 | 7.09e-2 |
| RNA Polymerase II Transcription Termination | Reactome | 1 / 67 | 59.8× | 1.66e-2 | 7.70e-2 |
| mRNA surveillance pathway | KEGG | 1 / 103 | 38.9× | 2.55e-2 | 9.86e-2 |
| Spliceosome | KEGG | 1 / 162 | 24.7× | 3.99e-2 | 1.27e-1 |
| mRNA Splicing - Major Pathway | Reactome | 1 / 183 | 21.9× | 4.50e-2 | 1.36e-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 ⇵ |
|---|---|---|---|---|---|
| mRNA 3'-end processing by stem-loop binding and cleavage | GO:0006398 | 1 / 6 | 1,038× | 9.63e-4 | 1.42e-2 ✓ sig. |
| co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway | GO:0180010 | 1 / 9 | 692× | 1.44e-3 | 1.79e-2 ✓ sig. |
| mRNA 3'-end processing | GO:0031124 | 1 / 27 | 231× | 4.33e-3 | 3.11e-2 ✓ sig. |
| positive regulation of G1/S transition of mitotic cell cycle | GO:1900087 | 1 / 51 | 122× | 8.17e-3 | 4.21e-2 ✓ sig. |
| synapse organization | GO:0050808 | 1 / 72 | 86.5× | 1.15e-2 | 4.97e-2 ✓ sig. |
| negative regulation of neuron apoptotic process | GO:0043524 | 1 / 160 | 38.9× | 2.55e-2 | 7.42e-2 |
| homophilic cell adhesion via plasma membrane adhesion molecules | GO:0007156 | 1 / 167 | 37.3× | 2.66e-2 | 7.60e-2 |
| mRNA processing | GO:0006397 | 1 / 410 | 15.2× | 6.44e-2 | 1.25e-1 |
| nervous system development | GO:0007399 | 1 / 631 | 9.9× | 9.79e-2 | 1.63e-1 |
| cell adhesion | GO:0007155 | 1 / 665 | 9.4× | 1.03e-1 | 1.68e-1 |