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Cluster 265

7 diseases · 12 shared-gene connections
7 Diseases
18 Unique genes
0.186 Avg. similarity score
Cataract-glaucoma syndrome Most-connected disease (5 links)
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Disease Searched: cataract 50 with or without glaucoma 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.

Member diseases (most connected first ‐ the cluster's core)

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
TRPM3 5 / 7 Birk-barel syndrome, cataract 50 with or without glaucoma, Cataract-glaucoma syndrome, Mulibrey nanism and 1 more
PITX3 2 / 7 Cataract-glaucoma syndrome, Congenital cataract anterior segment dysgenesis syndrome
PNPLA7 2 / 7 Mulibrey nanism, Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
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 ⇵
Type I diabetes mellitus KEGG 2 / 44 30.3× 1.93e-3 2.27e-2 ✓ sig.
SDK interactions Reactome 1 / 2 334× 3.00e-3 3.11e-2 ✓ sig.
TWIK-releated acid-sensitive K+ channel (TASK) Reactome 1 / 2 334× 3.00e-3 3.11e-2 ✓ sig.
MECP2 regulates neuronal receptors and channels Reactome 1 / 4 167× 5.98e-3 5.03e-2
Formyl peptide receptors bind formyl peptides and many other ligands Reactome 1 / 8 83.4× 1.19e-2 7.79e-2
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Reactome 1 / 14 47.7× 2.08e-2 1.08e-1
G alpha (q) signalling events Reactome 2 / 172 7.8× 2.68e-2 1.25e-1
Toll Like Receptor 4 (TLR4) Cascade Reactome 1 / 19 35.1× 2.81e-2 1.28e-1
Phase 4 - resting membrane potential Reactome 1 / 19 35.1× 2.81e-2 1.28e-1
Synthesis, secretion, and deacylation of Ghrelin Reactome 1 / 19 35.1× 2.81e-2 1.28e-1
Translocation of ZAP-70 to Immunological synapse Reactome 1 / 19 35.1× 2.81e-2 1.28e-1
Interleukin-37 signaling Reactome 1 / 21 31.8× 3.10e-2 1.35e-1
Phosphorylation of CD3 and TCR zeta chains Reactome 1 / 22 30.3× 3.25e-2 1.38e-1
PD-1 signaling Reactome 1 / 23 29.0× 3.39e-2 1.42e-1
Glucagon signaling in metabolic regulation Reactome 1 / 26 25.7× 3.83e-2 1.51e-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 ⇵
regulation of interleukin-1 production GO:0032652 1 / 1 1,038× 9.63e-4 1.50e-2 ✓ sig.
negative regulation of aldosterone secretion GO:2000859 1 / 1 1,038× 9.63e-4 1.50e-2 ✓ sig.
negative regulation of gliogenesis GO:0014014 1 / 2 519× 1.93e-3 2.26e-2 ✓ sig.
response to methamphetamine hydrochloride GO:1904313 1 / 2 519× 1.93e-3 2.26e-2 ✓ sig.
positive regulation of cell proliferation in midbrain GO:1904935 1 / 2 519× 1.93e-3 2.26e-2 ✓ sig.
cellular response to glial cell derived neurotrophic factor GO:1990792 1 / 2 519× 1.93e-3 2.26e-2 ✓ sig.
protein dephosphorylation GO:0006470 2 / 72 28.8× 2.15e-3 2.41e-2 ✓ sig.
regulation of action potential firing rate GO:0099605 1 / 3 346× 2.89e-3 2.82e-2 ✓ sig.
myoblast migration involved in skeletal muscle regeneration GO:0014839 1 / 4 260× 3.85e-3 3.28e-2 ✓ sig.
regulation of hormone secretion GO:0046883 1 / 4 260× 3.85e-3 3.28e-2 ✓ sig.
regulation of leukocyte migration GO:0002685 1 / 5 208× 4.81e-3 3.65e-2 ✓ sig.
positive regulation of neutrophil apoptotic process GO:0033031 1 / 5 208× 4.81e-3 3.65e-2 ✓ sig.
negative regulation of T-helper 2 cell differentiation GO:0045629 1 / 5 208× 4.81e-3 3.65e-2 ✓ sig.
granulocyte chemotaxis GO:0071621 1 / 5 208× 4.81e-3 3.65e-2 ✓ sig.
positive regulation of T-helper 1 cell differentiation GO:0045627 1 / 6 173× 5.77e-3 3.99e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Birk-barel syndrome cataract 50 with or without glaucoma 0.333 1 1.30e-4 3.91e-4 ✓ sig.
cataract 50 with or without glaucoma Cataract-glaucoma syndrome 0.333 1 1.30e-4 3.91e-4 ✓ sig.
Cataract-glaucoma syndrome Congenital cataract anterior segment dysgenesis syndrome 0.333 1 1.30e-4 3.91e-4 ✓ sig.
Birk-barel syndrome Cataract-glaucoma syndrome 0.250 1 2.60e-4 6.48e-4 ✓ sig.
cataract 50 with or without glaucoma Mulibrey nanism 0.200 1 2.60e-4 6.48e-4 ✓ sig.
Birk-barel syndrome Mulibrey nanism 0.167 1 5.19e-4 1.06e-3 ✓ sig.
Cataract-glaucoma syndrome Mulibrey nanism 0.167 1 5.19e-4 1.06e-3 ✓ sig.
Mulibrey nanism Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0.167 1 5.19e-4 1.06e-3 ✓ sig.
cataract 50 with or without glaucoma Stomach disease 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Birk-barel syndrome Stomach disease 0.071 1 1.56e-3 2.37e-3 ✓ sig.
Cataract-glaucoma syndrome Stomach disease 0.071 1 1.56e-3 2.37e-3 ✓ sig.
Mulibrey nanism Stomach disease 0.063 1 3.11e-3 4.10e-3 ✓ sig.