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 38

17 diseases · 37 shared-gene connections
17 Diseases
80 Unique genes
0.274 Avg. similarity score
Ankylosis Most-connected disease (8 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 ⇵
Ankylosis 8 8 1
Beare-stevenson cutis gyrata syndrome 8 8 1
Cutis gyrata syndrome 8 8 1
Biliary tract neoplasms 7 7 3
bent bone dysplasia syndrome 1 7 7 1
Pfeiffer syndrome 6 6 3
Congenital aural atresia 5 5 2
Crouzon syndrome 5 5 2
Male breast carcinoma 4 4 5
Antley-bixler syndrome 3 3 3
Triple negative breast cancer 3 3 34
Cardiofacial dysplasia 2 2 2
Ocular hypotension 2 2 36
bone marrow failure syndrome 6 2 2 1
craniosynostosis 4 2 2 1
Diabetic macular edema 1 1 1
Estrogen resistance 1 1 3

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

Gene ⇵ Member diseases ⇵ Linked diseases
FGFR2 10 / 17 Ankylosis, Antley-bixler syndrome, Beare-stevenson cutis gyrata syndrome, bent bone dysplasia syndrome 1 and 6 more
CCDC170 3 / 17 Estrogen resistance, Male breast carcinoma, Triple negative breast cancer
ERF 3 / 17 craniosynostosis 4, Crouzon syndrome, Ocular hypotension
MDM4 3 / 17 bone marrow failure syndrome 6, Pfeiffer syndrome, Triple negative breast cancer
PRKACB 3 / 17 Biliary tract neoplasms, Cardiofacial dysplasia, Male breast carcinoma
ESR1 2 / 17 Estrogen resistance, Male breast carcinoma
MLLT10 2 / 17 Male breast carcinoma, Triple negative breast cancer
MRPL19 2 / 17 Diabetic macular edema, Ocular hypotension
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 ⇵
Pathways in cancer
FGFR2, PRKACB, PRKACA, ESR1, DCC, GADD45G, RASSF5, VEGFA, FGFR1, TERT, TP53
 KEGG 11 / 533 3.1× 7.72e-4 1.12e-2 ✓ sig.
CREB1 phosphorylation through the activation of Adenylate Cyclase
PRKACB, PRKACA
 Reactome 2 / 7 42.9× 9.00e-4 1.25e-2 ✓ sig.
HDL assembly
PRKACB, PRKACA
 Reactome 2 / 8 37.5× 1.20e-3 1.55e-2 ✓ sig.
Oncogene Induced Senescence
ERF, MDM4, TP53
 Reactome 3 / 33 13.6× 1.34e-3 1.69e-2 ✓ sig.
Stabilization of p53
MDM4, TP53
 Reactome 2 / 11 27.3× 2.32e-3 2.55e-2 ✓ sig.
Proteoglycans in cancer
PRKACB, PRKACA, ESR1, VEGFA, FGFR1, TP53
 KEGG 6 / 204 4.4× 2.36e-3 2.58e-2 ✓ sig.
Rap1 signaling pathway
FGFR2, ARAP3, PFN2, RASSF5, VEGFA, FGFR1
 KEGG 6 / 211 4.3× 2.79e-3 2.92e-2 ✓ sig.
MAPK signaling pathway
FGFR2, PRKACB, PRKACA, GADD45G, VEGFA, FGFR1, TP53
 KEGG 7 / 299 3.5× 3.72e-3 3.59e-2 ✓ sig.
Endocrine resistance
PRKACB, PRKACA, ESR1, TP53
 KEGG 4 / 99 6.1× 4.26e-3 3.94e-2 ✓ sig.
Factors involved in megakaryocyte development and platelet production
PRKACB, PRKACA, RAD51B, DOCK2
 Reactome 4 / 99 6.1× 4.26e-3 3.94e-2 ✓ sig.
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
ESR1, VEGFA
 Reactome 2 / 15 20.0× 4.35e-3 4.00e-2 ✓ sig.
Ras signaling pathway
FGFR2, PRKACB, PRKACA, RASSF5, VEGFA, FGFR1
 KEGG 6 / 237 3.8× 4.94e-3 4.36e-2 ✓ sig.
Rap1 signalling
PRKACB, PRKACA
 Reactome 2 / 16 18.8× 4.95e-3 4.36e-2 ✓ sig.
Regulation of insulin secretion
PRKACB, PRKACA
 Reactome 2 / 16 18.8× 4.95e-3 4.36e-2 ✓ sig.
Nuclear Receptor transcription pathway
ESR1, ESRRG, NR2F6
 Reactome 3 / 52 8.7× 4.97e-3 4.37e-2 ✓ sig.

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

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
FGFR2, FGFR1
 GO:0035607 2 / 2 234× 1.81e-5 8.30e-4 ✓ sig.
orbitofrontal cortex development
FGFR2, FGFR1
 GO:0021769 2 / 3 156× 5.41e-5 1.91e-3 ✓ sig.
prostate epithelial cord elongation
FGFR2, ESR1
 GO:0060523 2 / 3 156× 5.41e-5 1.91e-3 ✓ sig.
ventricular zone neuroblast division
FGFR2, FGFR1
 GO:0021847 2 / 3 156× 5.41e-5 1.91e-3 ✓ sig.
positive regulation of phospholipase activity
FGFR2, FGFR1
 GO:0010518 2 / 4 117× 1.08e-4 3.20e-3 ✓ sig.
bone trabecula morphogenesis
SEMA4D, VEGFA
 GO:0061430 2 / 4 117× 1.08e-4 3.20e-3 ✓ sig.
cementum mineralization
FGFR1, HACD1
 GO:0071529 2 / 6 77.9× 2.68e-4 6.21e-3 ✓ sig.
cellular response to hypoxia
FGFR2, VEGFA, MDM4, TERT, TP53
 GO:0071456 5 / 139 8.4× 3.26e-4 7.10e-3 ✓ sig.
positive regulation of axon extension involved in axon guidance
DSCAM, VEGFA
 GO:0048842 2 / 7 66.7× 3.75e-4 7.82e-3 ✓ sig.
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
FGFR2, ESR1
 GO:0060527 2 / 7 66.7× 3.75e-4 7.82e-3 ✓ sig.
protein export from nucleus
PRKACA, AHCYL1, ANKLE1
 GO:0006611 3 / 33 21.2× 3.76e-4 7.83e-3 ✓ sig.
lung-associated mesenchyme development
FGFR2, FGFR1
 GO:0060484 2 / 9 51.9× 6.39e-4 1.13e-2 ✓ sig.
vascular endothelial cell response to laminar fluid shear stress
PRKACB, PRKACA
 GO:0097700 2 / 9 51.9× 6.39e-4 1.13e-2 ✓ sig.
high-density lipoprotein particle assembly
PRKACB, PRKACA
 GO:0034380 2 / 10 46.7× 7.97e-4 1.30e-2 ✓ sig.
positive regulation of cold-induced thermogenesis
ESRRG, GADD45G, PRDM16, VEGFA
 GO:0120162 4 / 102 9.2× 9.63e-4 1.47e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Estrogen resistance Male breast carcinoma 0.286 2 2.53e-7 1.75e-6 ✓ sig.
Pfeiffer syndrome Triple negative breast cancer 0.056 2 1.42e-5 7.24e-5 ✓ sig.
Male breast carcinoma Triple negative breast cancer 0.053 2 4.71e-5 2.26e-4 ✓ sig.
Ankylosis Cutis gyrata syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
bent bone dysplasia syndrome 1 Cutis gyrata syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Beare-stevenson cutis gyrata syndrome bent bone dysplasia syndrome 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Beare-stevenson cutis gyrata syndrome Cutis gyrata syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Ankylosis Beare-stevenson cutis gyrata syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Ankylosis bent bone dysplasia syndrome 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Beare-stevenson cutis gyrata syndrome Congenital aural atresia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Beare-stevenson cutis gyrata syndrome Crouzon syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Ankylosis Crouzon syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
bent bone dysplasia syndrome 1 Congenital aural atresia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
bent bone dysplasia syndrome 1 Crouzon syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Ankylosis Congenital aural atresia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Crouzon syndrome Cutis gyrata syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
craniosynostosis 4 Crouzon syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital aural atresia Cutis gyrata syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Antley-bixler syndrome Beare-stevenson cutis gyrata syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
bent bone dysplasia syndrome 1 Pfeiffer syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Cutis gyrata syndrome Pfeiffer syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Beare-stevenson cutis gyrata syndrome Pfeiffer syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Ankylosis Pfeiffer syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
bone marrow failure syndrome 6 Pfeiffer syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
bent bone dysplasia syndrome 1 Biliary tract neoplasms 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Biliary tract neoplasms Cutis gyrata syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Beare-stevenson cutis gyrata syndrome Biliary tract neoplasms 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Ankylosis Biliary tract neoplasms 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Ankylosis Antley-bixler syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Antley-bixler syndrome Cutis gyrata syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Biliary tract neoplasms Cardiofacial dysplasia 0.200 1 3.90e-4 8.52e-4 ✓ sig.
Biliary tract neoplasms Congenital aural atresia 0.200 1 3.90e-4 8.52e-4 ✓ sig.
Cardiofacial dysplasia Male breast carcinoma 0.143 1 6.49e-4 1.22e-3 ✓ sig.
Biliary tract neoplasms Male breast carcinoma 0.125 1 9.74e-4 1.64e-3 ✓ sig.
bone marrow failure syndrome 6 Triple negative breast cancer 0.029 1 2.21e-3 3.10e-3 ✓ sig.
craniosynostosis 4 Ocular hypotension 0.027 1 2.34e-3 3.23e-3 ✓ sig.
Diabetic macular edema Ocular hypotension 0.027 1 2.34e-3 3.23e-3 ✓ sig.