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 216
8
Diseases
3
Unique genes
0.396
Avg. similarity score
Dicer1 syndrome
Most-connected disease (5 links)
Disease
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Dicer1 syndrome
Dicer1 tumor-predisposition syndrome
Dicer1-related tumor predisposition
Granulosa cell tumor of ovary
Sertoli-leydig cell tumor of ovary
Vertebral anomalies with endocrine and t-cell dysfunction
Blepharophimosis-ptosis-epicanthus inversus syndrome
vertebral anomalies and variable endocrine and t-cell dysfunction
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Dicer1 syndrome | 5 | 5 | 1 |
| Dicer1 tumor-predisposition syndrome | 5 | 5 | 1 |
| Dicer1-related tumor predisposition | 5 | 5 | 1 |
| Granulosa cell tumor of ovary | 5 | 5 | 2 |
| Sertoli-leydig cell tumor of ovary | 5 | 5 | 1 |
| Vertebral anomalies with endocrine and t-cell dysfunction | 5 | 5 | 2 |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | 1 | 1 | 1 |
| vertebral anomalies and variable endocrine and t-cell dysfunction | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| DICER1 | 6 / 8 | Dicer1 syndrome, Dicer1 tumor-predisposition syndrome, Dicer1-related tumor predisposition, Granulosa cell tumor of ovary and 2 more |
| FOXL2 | 2 / 8 | Blepharophimosis-ptosis-epicanthus inversus syndrome, Granulosa cell tumor of ovary |
| TBX2 | 2 / 8 | vertebral anomalies and variable endocrine and t-cell dysfunction, Vertebral anomalies with endocrine and t-cell dysfunction |
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 ⇵ |
|---|---|---|---|---|---|
| Small interfering RNA (siRNA) biogenesis | Reactome | 1 / 9 | 445× | 2.25e-3 | 2.48e-2 ✓ sig. |
| SUMOylation of transcription factors | Reactome | 1 / 18 | 222× | 4.49e-3 | 4.08e-2 ✓ sig. |
| MicroRNA (miRNA) biogenesis | Reactome | 1 / 24 | 167× | 5.98e-3 | 4.92e-2 ✓ sig. |
| MicroRNAs in cancer | KEGG | 1 / 311 | 12.9× | 7.57e-2 | 2.13e-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 ⇵ |
|---|---|---|---|---|---|
| apoptotic DNA fragmentation | GO:0006309 | 2 / 12 | 1,038× | 1.13e-6 | 9.16e-5 ✓ sig. |
| negative regulation of transcription by RNA polymerase II | GO:0000122 | 3 / 1,002 | 18.6× | 1.54e-4 | 4.18e-3 ✓ sig. |
| negative regulation of heart looping | GO:1901208 | 1 / 1 | 6,229× | 1.61e-4 | 4.31e-3 ✓ sig. |
| negative regulation of cardiac chamber formation | GO:1901211 | 1 / 1 | 6,229× | 1.61e-4 | 4.31e-3 ✓ sig. |
| female somatic sex determination | GO:0019101 | 1 / 1 | 6,229× | 1.61e-4 | 4.31e-3 ✓ sig. |
| granulosa cell differentiation | GO:0060014 | 1 / 1 | 6,229× | 1.61e-4 | 4.31e-3 ✓ sig. |
| muscle cell fate determination | GO:0007521 | 1 / 2 | 3,115× | 3.21e-4 | 7.03e-3 ✓ sig. |
| pigment metabolic process involved in pigmentation | GO:0043474 | 1 / 2 | 3,115× | 3.21e-4 | 7.03e-3 ✓ sig. |
| ureteric peristalsis | GO:0072105 | 1 / 2 | 3,115× | 3.21e-4 | 7.03e-3 ✓ sig. |
| positive regulation of Schwann cell differentiation | GO:0014040 | 1 / 3 | 2,076× | 4.82e-4 | 9.31e-3 ✓ sig. |
| peripheral nervous system myelin formation | GO:0032290 | 1 / 3 | 2,076× | 4.82e-4 | 9.31e-3 ✓ sig. |
| developmental growth involved in morphogenesis | GO:0060560 | 1 / 3 | 2,076× | 4.82e-4 | 9.31e-3 ✓ sig. |
| mammary placode formation | GO:0060596 | 1 / 3 | 2,076× | 4.82e-4 | 9.31e-3 ✓ sig. |
| global gene silencing by mRNA cleavage | GO:0098795 | 1 / 3 | 2,076× | 4.82e-4 | 9.31e-3 ✓ sig. |
| cardiac jelly development | GO:1905072 | 1 / 4 | 1,557× | 6.42e-4 | 1.13e-2 ✓ sig. |