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Cluster 205

8 diseases · 13 shared-gene connections
8 Diseases
10 Unique genes
0.238 Avg. similarity score
Anodontia Most-connected disease (6 links)
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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.

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

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

Gene ⇵ Member diseases ⇵ Linked diseases
MSX1 5 / 8 Anodontia, tooth agenesis, selective, 1, Tooth and nail syndrome, Witkop syndrome and 1 more
IRX5 2 / 8 Anodontia, craniofacial dysplasia - osteopenia syndrome
PIGG 2 / 8 Early-onset epilepsy-intellectual disability-brain anomalies syndrome, Wolf-hirschhorn syndrome
SBDS 2 / 8 Anodontia, Severe neonatal spondylometaphyseal dysplasia
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 ⇵
FGFRL1 modulation of FGFR1 signaling Reactome 1 / 13 92.4× 1.08e-2 7.19e-2
Synthesis of glycosylphosphatidylinositol (GPI) Reactome 1 / 17 70.6× 1.41e-2 8.38e-2
Formation of HIV-1 elongation complex containing HIV-1 Tat Reactome 1 / 23 52.2× 1.90e-2 9.98e-2
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis KEGG 1 / 30 40.0× 2.47e-2 1.16e-1
Formation of the Early Elongation Complex Reactome 1 / 33 36.4× 2.71e-2 1.22e-1
Molecules associated with elastic fibres Reactome 1 / 38 31.6× 3.12e-2 1.32e-1
RNA Polymerase II Transcription Elongation Reactome 1 / 59 20.4× 4.81e-2 1.68e-1
Formation of RNA Pol II elongation complex Reactome 1 / 61 19.7× 4.97e-2 1.71e-1
Lysine degradation KEGG 1 / 63 19.1× 5.13e-2 1.74e-1
Viral life cycle - HIV-1 KEGG 1 / 64 18.8× 5.20e-2 1.75e-1
TP53 Regulates Transcription of DNA Repair Genes Reactome 1 / 65 18.5× 5.28e-2 1.77e-1
Nonhomologous End-Joining (NHEJ) Reactome 1 / 69 17.4× 5.60e-2 1.82e-1
PKMTs methylate histone lysines Reactome 1 / 71 16.9× 5.76e-2 1.85e-1
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Reactome 1 / 76 15.8× 6.15e-2 1.91e-1
RNA Polymerase II Pre-transcription Events Reactome 1 / 84 14.3× 6.78e-2 2.01e-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 ⇵
bone morphogenesis GO:0060349 2 / 32 117× 1.27e-4 3.61e-3 ✓ sig.
bone mineralization GO:0030282 2 / 56 66.7× 3.91e-4 8.07e-3 ✓ sig.
mitotic spindle organization GO:0007052 2 / 58 64.4× 4.19e-4 8.50e-3 ✓ sig.
negative regulation of odontoblast differentiation GO:1901330 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
atrial septum secundum morphogenesis GO:0003290 1 / 2 934× 1.07e-3 1.57e-2 ✓ sig.
cell surface receptor signaling pathway involved in heart development GO:0061311 1 / 2 934× 1.07e-3 1.57e-2 ✓ sig.
positive regulation of mesenchymal cell apoptotic process GO:2001055 1 / 3 623× 1.60e-3 1.98e-2 ✓ sig.
negative regulation of striated muscle cell differentiation GO:0051154 1 / 3 623× 1.60e-3 1.98e-2 ✓ sig.
calcium export from the mitochondrion GO:0099093 1 / 3 623× 1.60e-3 1.98e-2 ✓ sig.
activation of meiosis GO:0090427 1 / 4 467× 2.14e-3 2.34e-2 ✓ sig.
embryonic nail plate morphogenesis GO:0035880 1 / 4 467× 2.14e-3 2.34e-2 ✓ sig.
regulation of odontogenesis GO:0042481 1 / 4 467× 2.14e-3 2.34e-2 ✓ sig.
regulation of cellular hyperosmotic salinity response GO:1900069 1 / 4 467× 2.14e-3 2.34e-2 ✓ sig.
negative regulation of mitochondrial calcium ion concentration GO:0051562 1 / 4 467× 2.14e-3 2.34e-2 ✓ sig.
mitochondrial potassium ion transmembrane transport GO:0140141 1 / 4 467× 2.14e-3 2.34e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
tooth agenesis, selective, 1 Tooth and nail syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
tooth agenesis, selective, 1 Witkop syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Tooth and nail syndrome Witkop syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Anodontia Severe neonatal spondylometaphyseal dysplasia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Anodontia craniofacial dysplasia - osteopenia syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Anodontia Tooth and nail syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Anodontia Witkop syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Anodontia tooth agenesis, selective, 1 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Early-onset epilepsy-intellectual disability-brain anomalies syndrome Wolf-hirschhorn syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
tooth agenesis, selective, 1 Wolf-hirschhorn syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Tooth and nail syndrome Wolf-hirschhorn syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Witkop syndrome Wolf-hirschhorn syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Anodontia Wolf-hirschhorn syndrome 0.091 1 1.82e-3 2.66e-3 ✓ sig.