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 122
11
Diseases
37
Unique genes
0.141
Avg. similarity score
Cataract-glaucoma syndrome
Most-connected disease (6 links)
Disease
Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Cataract-glaucoma syndrome
syndromic complex neurodevelopmental disorder
Birk-barel syndrome
Mulibrey nanism
cataract 50 with or without glaucoma
Stomach disease
Chopra-amiel-gordon syndrome
Congenital cataract anterior segment dysgenesis syndrome
Intellectual developmental disorder dysmorphic ptosis
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Ververi-brady syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Cataract-glaucoma syndrome | 6 | 6 | 2 |
| syndromic complex neurodevelopmental disorder | 6 | 6 | 18 |
| Birk-barel syndrome | 5 | 5 | 2 |
| Mulibrey nanism | 5 | 5 | 4 |
| cataract 50 with or without glaucoma | 5 | 5 | 1 |
| Stomach disease | 4 | 4 | 12 |
| Chopra-amiel-gordon syndrome | 1 | 1 | 1 |
| Congenital cataract anterior segment dysgenesis syndrome | 1 | 1 | 1 |
| Intellectual developmental disorder dysmorphic ptosis | 1 | 1 | 2 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 1 | 1 | 2 |
| Ververi-brady syndrome | 1 | 1 | 2 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| TRPM3 | 6 / 11 | Birk-barel syndrome, cataract 50 with or without glaucoma, Cataract-glaucoma syndrome, Mulibrey nanism and 2 more |
| ANKRD17 | 2 / 11 | Chopra-amiel-gordon syndrome, syndromic complex neurodevelopmental disorder |
| BRPF1 | 2 / 11 | Intellectual developmental disorder dysmorphic ptosis, syndromic complex neurodevelopmental disorder |
| PITX3 | 2 / 11 | Cataract-glaucoma syndrome, Congenital cataract anterior segment dysgenesis syndrome |
| PNPLA7 | 2 / 11 | Mulibrey nanism, Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| QRICH1 | 2 / 11 | syndromic complex neurodevelopmental disorder, Ververi-brady syndrome |
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)
None of these pathways reaches significance (all FDR q ≥ 0.05). They’re the best candidates found, but treat them as weak evidence for why this cluster groups together.
| Pathway ⇵ | Source ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| SDK interactions | Reactome | 1 / 2 | 162× | 6.15e-3 | 5.02e-2 |
| TWIK-releated acid-sensitive K+ channel (TASK) | Reactome | 1 / 2 | 162× | 6.15e-3 | 5.02e-2 |
| Type I diabetes mellitus | KEGG | 2 / 44 | 14.8× | 8.05e-3 | 5.99e-2 |
| MECP2 regulates neuronal receptors and channels | Reactome | 1 / 4 | 81.1× | 1.23e-2 | 7.74e-2 |
| Formyl peptide receptors bind formyl peptides and many other ligands | Reactome | 1 / 8 | 40.6× | 2.44e-2 | 1.15e-1 |
| Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) | Reactome | 1 / 14 | 23.2× | 4.23e-2 | 1.56e-1 |
| Selenocompound metabolism | KEGG | 1 / 17 | 19.1× | 5.11e-2 | 1.74e-1 |
| Signaling by cytosolic FGFR1 fusion mutants | Reactome | 1 / 18 | 18.0× | 5.41e-2 | 1.79e-1 |
| Toll Like Receptor 4 (TLR4) Cascade | Reactome | 1 / 19 | 17.1× | 5.70e-2 | 1.84e-1 |
| Phase 4 - resting membrane potential | Reactome | 1 / 19 | 17.1× | 5.70e-2 | 1.84e-1 |
| Synthesis, secretion, and deacylation of Ghrelin | Reactome | 1 / 19 | 17.1× | 5.70e-2 | 1.84e-1 |
| Translocation of ZAP-70 to Immunological synapse | Reactome | 1 / 19 | 17.1× | 5.70e-2 | 1.84e-1 |
| Interleukin-37 signaling | Reactome | 1 / 21 | 15.5× | 6.28e-2 | 1.93e-1 |
| Phosphorylation of CD3 and TCR zeta chains | Reactome | 1 / 22 | 14.8× | 6.57e-2 | 1.98e-1 |
| Regulation of TP53 Activity through Acetylation | Reactome | 1 / 23 | 14.1× | 6.86e-2 | 2.02e-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 ⇵ |
|---|---|---|---|---|---|
| neuron fate specification | GO:0048665 | 2 / 24 | 42.1× | 1.02e-3 | 1.53e-2 ✓ sig. |
| regulation of DNA-templated transcription | GO:0006355 | 9 / 1,454 | 3.1× | 1.72e-3 | 2.08e-2 ✓ sig. |
| chromatin organization | GO:0006325 | 5 / 449 | 5.6× | 1.81e-3 | 2.15e-2 ✓ sig. |
| regulation of interleukin-1 production | GO:0032652 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| regeneration | GO:0031099 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| lung ciliated cell differentiation | GO:0061141 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| negative regulation of epithelial cell proliferation involved in lung morphogenesis | GO:2000795 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| negative regulation of aldosterone secretion | GO:2000859 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| tarsal gland development | GO:1903699 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| uterine gland development | GO:1903709 | 1 / 1 | 505× | 1.98e-3 | 2.24e-2 ✓ sig. |
| cell differentiation involved in salivary gland development | GO:0060689 | 1 / 2 | 253× | 3.96e-3 | 3.27e-2 ✓ sig. |
| negative regulation of mesenchymal cell proliferation involved in lung development | GO:2000791 | 1 / 2 | 253× | 3.96e-3 | 3.27e-2 ✓ sig. |
| negative regulation of gliogenesis | GO:0014014 | 1 / 2 | 253× | 3.96e-3 | 3.27e-2 ✓ sig. |
| response to methamphetamine hydrochloride | GO:1904313 | 1 / 2 | 253× | 3.96e-3 | 3.27e-2 ✓ sig. |
| positive regulation of cell proliferation in midbrain | GO:1904935 | 1 / 2 | 253× | 3.96e-3 | 3.27e-2 ✓ sig. |