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 257

7 diseases · 15 shared-gene connections
7 Diseases
10 Unique genes
0.330 Avg. similarity score
Arteriovenous hemangioma Most-connected disease (5 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 ⇵
Arteriovenous hemangioma 5 5 4
Blue rubber bleb nevus syndrome 5 5 2
Bockenheimer syndrome 5 5 1
Mucocutaneous venous malformations 5 5 1
TEK-related primary glaucoma 5 5 1
Venous malformation 3 3 2
Congenital venous anomaly 2 2 7

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

Gene ⇵ Member diseases ⇵ Linked diseases
TEK 7 / 7 Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Bockenheimer syndrome, Congenital venous anomaly and 3 more
GLMN 3 / 7 Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Congenital venous anomaly
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 ⇵
Tie2 Signaling
TEK, KRAS, PIK3CA
 Reactome 3 / 18 200× 3.37e-7 1.90e-5 ✓ sig.
Downstream signal transduction
RASA1, KRAS, PIK3CA
 Reactome 3 / 29 124× 1.50e-6 6.93e-5 ✓ sig.
Axon guidance
RASA1, EPHB4, KRAS, PIK3CA
 KEGG 4 / 183 26.3× 1.02e-5 3.41e-4 ✓ sig.
GnRH secretion
GNA11, KRAS, PIK3CA
 KEGG 3 / 65 55.4× 1.77e-5 5.40e-4 ✓ sig.
Signaling by FGFR3 fusions in cancer
KRAS, PIK3CA
 Reactome 2 / 10 240× 2.80e-5 7.86e-4 ✓ sig.
Ras signaling pathway
RASA1, TEK, KRAS, PIK3CA
 KEGG 4 / 237 20.3× 2.83e-5 7.93e-4 ✓ sig.
Signaling by FGFR4 in disease
KRAS, PIK3CA
 Reactome 2 / 11 218× 3.42e-5 9.32e-4 ✓ sig.
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
KRAS, PIK3CA
 Reactome 2 / 12 200× 4.10e-5 1.09e-3 ✓ sig.
Signaling by PDGFRA extracellular domain mutants
KRAS, PIK3CA
 Reactome 2 / 12 200× 4.10e-5 1.09e-3 ✓ sig.
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
RASA1, KRAS
 Reactome 2 / 14 172× 5.65e-5 1.41e-3 ✓ sig.
VEGFR2 mediated cell proliferation
RASA1, KRAS
 Reactome 2 / 14 172× 5.65e-5 1.41e-3 ✓ sig.
Constitutive Signaling by EGFRvIII
KRAS, PIK3CA
 Reactome 2 / 15 160× 6.51e-5 1.58e-3 ✓ sig.
Signaling by ERBB2 ECD mutants
KRAS, PIK3CA
 Reactome 2 / 16 150× 7.44e-5 1.76e-3 ✓ sig.
Cholinergic synapse
GNA11, KRAS, PIK3CA
 KEGG 3 / 115 31.3× 9.77e-5 2.21e-3 ✓ sig.
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
KRAS, PIK3CA
 Reactome 2 / 19 126× 1.06e-4 2.36e-3 ✓ 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 ⇵
angiogenesis
ENG, RASA1, TEK, EPHB4, PIK3CA
 GO:0001525 5 / 284 32.9× 1.85e-7 2.03e-5 ✓ sig.
vasculogenesis
ENG, GLMN, RASA1
 GO:0001570 3 / 63 89.0× 4.31e-6 2.66e-4 ✓ sig.
positive regulation of Rac protein signal transduction
TEK, KRAS
 GO:0035022 2 / 18 208× 3.93e-5 1.50e-3 ✓ sig.
negative regulation of neuron apoptotic process
RASA1, KRAS, PIK3CA
 GO:0043524 3 / 160 35.0× 7.07e-5 2.34e-3 ✓ sig.
regulation of actin filament polymerization
RASA1, ELN
 GO:0030833 2 / 31 121× 1.19e-4 3.45e-3 ✓ sig.
sprouting angiogenesis
ENG, TEK
 GO:0002040 2 / 37 101× 1.70e-4 4.50e-3 ✓ sig.
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
ENG, TEK, PIK3CA
 GO:0051897 3 / 217 25.8× 1.75e-4 4.59e-3 ✓ sig.
regulation of intracellular signal transduction
RASA1, TEK
 GO:1902531 2 / 40 93.4× 1.99e-4 5.03e-3 ✓ sig.
ephrin receptor signaling pathway
RASA1, EPHB4
 GO:0048013 2 / 51 73.3× 3.24e-4 7.07e-3 ✓ sig.
heart development
ENG, TEK, GNA11
 GO:0007507 3 / 273 20.5× 3.43e-4 7.36e-3 ✓ sig.
heart morphogenesis
COL5A1, EPHB4
 GO:0003007 2 / 61 61.3× 4.64e-4 9.10e-3 ✓ sig.
cell migration
ENG, COL5A1, PIK3CA
 GO:0016477 3 / 303 18.5× 4.65e-4 9.12e-3 ✓ sig.
integrin biosynthetic process
COL5A1
 GO:0045112 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis
ENG
 GO:1905310 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.
regulation of cell proliferation involved in heart morphogenesis
ENG
 GO:2000136 1 / 1 1,869× 5.35e-4 9.98e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Arteriovenous hemangioma Blue rubber bleb nevus syndrome 0.400 2 5.06e-8 3.92e-7 ✓ sig.
Blue rubber bleb nevus syndrome Congenital venous anomaly 0.250 2 1.77e-7 1.25e-6 ✓ sig.
Arteriovenous hemangioma Congenital venous anomaly 0.200 2 1.06e-6 6.56e-6 ✓ sig.
Bockenheimer syndrome Mucocutaneous venous malformations 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Bockenheimer syndrome TEK-related primary glaucoma 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Mucocutaneous venous malformations TEK-related primary glaucoma 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Blue rubber bleb nevus syndrome Bockenheimer syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Blue rubber bleb nevus syndrome Mucocutaneous venous malformations 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Blue rubber bleb nevus syndrome TEK-related primary glaucoma 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Bockenheimer syndrome Venous malformation 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Mucocutaneous venous malformations Venous malformation 0.333 1 1.30e-4 3.90e-4 ✓ sig.
TEK-related primary glaucoma Venous malformation 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Arteriovenous hemangioma Bockenheimer syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Arteriovenous hemangioma Mucocutaneous venous malformations 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Arteriovenous hemangioma TEK-related primary glaucoma 0.200 1 2.60e-4 6.40e-4 ✓ sig.