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Cluster 344

6 diseases · 7 shared-gene connections
6 Diseases
11 Unique genes
0.219 Avg. similarity score
Tooth abnormalities Most-connected disease (4 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)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Tooth abnormalities 4 4 10
cenani-lenz syndactyly syndrome 3 3 1
congenital myasthenic syndrome 17 3 3 1
Sclerosteosis 2 2 2
Ehlers-Danlos syndrome, spondylocheirodysplastic type 1 1 1
Ulnar-mammary syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
LRP4 4 / 6 cenani-lenz syndactyly syndrome, congenital myasthenic syndrome 17, Sclerosteosis, Tooth abnormalities
SLC39A13 2 / 6 Ehlers-Danlos syndrome, spondylocheirodysplastic type, Tooth abnormalities
TBX3 2 / 6 Tooth abnormalities, Ulnar-mammary 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)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Signaling pathways regulating pluripotency of stem cells KEGG 3 / 144 22.7× 2.60e-4 4.79e-3 ✓ sig.
Signaling by FGFR2 amplification mutants Reactome 1 / 1 1,092× 9.16e-4 1.27e-2 ✓ sig.
Signaling by FGFR2 fusions Reactome 1 / 1 1,092× 9.16e-4 1.27e-2 ✓ sig.
RUNX2 regulates osteoblast differentiation Reactome 1 / 3 364× 2.75e-3 2.89e-2 ✓ sig.
TFAP2 (AP-2) family regulates transcription of other transcription factors Reactome 1 / 4 273× 3.66e-3 3.54e-2 ✓ sig.
RUNX2 regulates genes involved in differentiation of myeloid cells Reactome 1 / 4 273× 3.66e-3 3.54e-2 ✓ sig.
RUNX2 regulates genes involved in cell migration Reactome 1 / 5 218× 4.57e-3 4.13e-2 ✓ sig.
Parathyroid hormone synthesis, secretion and action KEGG 2 / 115 19.0× 4.72e-3 4.22e-2 ✓ sig.
RUNX2 regulates bone development Reactome 1 / 7 156× 6.40e-3 5.15e-2
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells Reactome 1 / 7 156× 6.40e-3 5.15e-2
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Reactome 1 / 7 156× 6.40e-3 5.15e-2
Negative regulation of TCF-dependent signaling by WNT ligand antagonists Reactome 1 / 8 136× 7.31e-3 5.62e-2
FGFR2b ligand binding and activation Reactome 1 / 10 109× 9.12e-3 6.50e-2
Transcriptional regulation by RUNX2 Reactome 1 / 12 91.0× 1.09e-2 7.25e-2
FGFR2c ligand binding and activation Reactome 1 / 13 84.0× 1.18e-2 7.60e-2

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
animal organ morphogenesis GO:0009887 5 / 130 65.3× 6.74e-9 1.22e-6 ✓ sig.
embryonic hindlimb morphogenesis GO:0035116 3 / 29 176× 5.50e-7 5.07e-5 ✓ sig.
pituitary gland development GO:0021983 3 / 30 170× 6.11e-7 5.54e-5 ✓ sig.
embryonic forelimb morphogenesis GO:0035115 3 / 33 154× 8.20e-7 7.06e-5 ✓ sig.
odontogenesis GO:0042476 3 / 36 142× 1.07e-6 8.76e-5 ✓ sig.
positive regulation of cell cycle GO:0045787 3 / 44 116× 1.98e-6 1.43e-4 ✓ sig.
bone mineralization GO:0030282 3 / 56 91.0× 4.14e-6 2.58e-4 ✓ sig.
odontogenesis of dentin-containing tooth GO:0042475 3 / 56 91.0× 4.14e-6 2.58e-4 ✓ sig.
embryonic digit morphogenesis GO:0042733 3 / 57 89.4× 4.36e-6 2.69e-4 ✓ sig.
lacrimal gland development GO:0032808 2 / 7 485× 6.60e-6 3.74e-4 ✓ sig.
in utero embryonic development GO:0001701 4 / 252 27.0× 9.89e-6 5.18e-4 ✓ sig.
response to sodium phosphate GO:1904383 2 / 9 378× 1.13e-5 5.73e-4 ✓ sig.
iris morphogenesis GO:0061072 2 / 9 378× 1.13e-5 5.73e-4 ✓ sig.
BMP signaling pathway GO:0030509 3 / 88 57.9× 1.62e-5 7.64e-4 ✓ sig.
positive regulation of transcription by RNA polymerase II GO:0045944 6 / 1,208 8.4× 2.51e-5 1.07e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
cenani-lenz syndactyly syndrome congenital myasthenic syndrome 17 0.500 1 6.49e-5 2.34e-4 ✓ sig.
cenani-lenz syndactyly syndrome Sclerosteosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
congenital myasthenic syndrome 17 Sclerosteosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
cenani-lenz syndactyly syndrome Tooth abnormalities 0.091 1 6.49e-4 1.22e-3 ✓ sig.
congenital myasthenic syndrome 17 Tooth abnormalities 0.091 1 6.49e-4 1.22e-3 ✓ sig.
Ehlers-Danlos syndrome, spondylocheirodysplastic type Tooth abnormalities 0.091 1 6.49e-4 1.22e-3 ✓ sig.
Tooth abnormalities Ulnar-mammary syndrome 0.091 1 6.49e-4 1.22e-3 ✓ sig.