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 234

7 diseases · 17 shared-gene connections
7 Diseases
15 Unique genes
0.317 Avg. similarity score
Acromegaloid facial appearance syndrome Most-connected disease (6 links)
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Disease Searched: Hypertrichosis 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 ⇵
Acromegaloid facial appearance syndrome 6 6 1
Cantu syndrome 6 6 2
Intellectual disability and myopathy syndrome 5 5 1
Kleefstra syndrome 5 5 5
dilated cardiomyopathy 1O 5 5 1
hypertrichotic osteochondrodysplasia Cantu type 5 5 1
Hypertrichosis 2 2 11

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

Gene ⇵ Member diseases ⇵ Linked diseases
ABCC9 7 / 7 Acromegaloid facial appearance syndrome, Cantu syndrome, dilated cardiomyopathy 1O, Hypertrichosis and 3 more
KCNJ8 2 / 7 Cantu syndrome, Hypertrichosis
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 ⇵
Rap1 signaling pathway
ARAP3, PFN2, RASSF5, VEGFA
 KEGG 4 / 211 5.6× 5.64e-3 4.75e-2 ✓ sig.
Signaling by VEGF
VEGFA
 Reactome 1 / 2 146× 6.82e-3 5.39e-2
Caspase activation via Dependence Receptors in the absence of ligand
DCC
 Reactome 1 / 4 73.2× 1.36e-2 8.36e-2
NGF processing
PCSK5
 Reactome 1 / 4 73.2× 1.36e-2 8.36e-2
VEGF ligand-receptor interactions
VEGFA
 Reactome 1 / 5 58.6× 1.70e-2 9.57e-2
Amine ligand-binding receptors
GPR143
 Reactome 1 / 7 41.8× 2.37e-2 1.16e-1
Non-small cell lung cancer
GADD45G, RASSF5
 KEGG 2 / 73 8.0× 2.56e-2 1.21e-1
Sema4D mediated inhibition of cell attachment and migration
SEMA4D
 Reactome 1 / 8 36.6× 2.70e-2 1.24e-1
Netrin-1 signaling
DCC
 Reactome 1 / 8 36.6× 2.70e-2 1.24e-1
VEGF binds to VEGFR leading to receptor dimerization
VEGFA
 Reactome 1 / 8 36.6× 2.70e-2 1.24e-1
Pancreatic cancer
GADD45G, VEGFA
 KEGG 2 / 77 7.6× 2.83e-2 1.28e-1
DSCAM interactions
DSCAM
 Reactome 1 / 9 32.5× 3.03e-2 1.33e-1
Insulin secretion
CACNA1F, RIMS2
 KEGG 2 / 86 6.8× 3.47e-2 1.43e-1
Colorectal cancer
DCC, GADD45G
 KEGG 2 / 87 6.7× 3.54e-2 1.45e-1
Regulation of gene expression by Hypoxia-inducible Factor
VEGFA
 Reactome 1 / 11 26.6× 3.69e-2 1.48e-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 ⇵
response to ATP
ABCC9, KCNJ8, KCNJ11
 GO:0033198 3 / 18 208× 3.39e-7 3.47e-5 ✓ sig.
inorganic cation transmembrane transport
ABCC9, KCNJ8, KCNJ11
 GO:0098662 3 / 23 162× 7.34e-7 6.59e-5 ✓ sig.
response to resveratrol
KCNJ8, KCNJ11
 GO:1904638 2 / 3 831× 1.80e-6 1.37e-4 ✓ sig.
determination of adult lifespan
KCNJ8, KCNJ11, NAGLU
 GO:0008340 3 / 38 98.4× 3.47e-6 2.31e-4 ✓ sig.
potassium ion import across plasma membrane
ABCC9, KCNJ8, KCNJ11
 GO:1990573 3 / 46 81.2× 6.22e-6 3.70e-4 ✓ sig.
CAMKK-AMPK signaling cascade
KCNJ8, KCNJ11
 GO:0061762 2 / 6 415× 9.00e-6 4.99e-4 ✓ sig.
action potential
ABCC9, KCNJ8, KCNJ11
 GO:0001508 3 / 53 70.5× 9.57e-6 5.22e-4 ✓ sig.
response to stress
ABCC9, KCNJ8, KCNJ11
 GO:0006950 3 / 53 70.5× 9.57e-6 5.22e-4 ✓ sig.
response to hypoxia
ABCC9, KCNJ8, CREBBP, KCNJ11
 GO:0001666 4 / 176 28.3× 9.57e-6 5.23e-4 ✓ sig.
heart morphogenesis
ABCC9, KCNJ8, ASXL1
 GO:0003007 3 / 61 61.3× 1.46e-5 7.28e-4 ✓ sig.
ventricular cardiac muscle tissue development
KCNJ8, KCNJ11
 GO:0003229 2 / 9 277× 2.16e-5 9.85e-4 ✓ sig.
hypothalamus development
RAB3GAP1, SOX3
 GO:0021854 2 / 15 166× 6.28e-5 2.21e-3 ✓ sig.
regulation of monoatomic ion transmembrane transport
KCNJ8, KCNJ11
 GO:0034765 2 / 23 108× 1.51e-4 4.24e-3 ✓ sig.
circulatory system development
ABCC9, KCNJ8
 GO:0072359 2 / 24 104× 1.64e-4 4.52e-3 ✓ sig.
coronary vasculature development
ABCC9, KCNJ8
 GO:0060976 2 / 27 92.3× 2.09e-4 5.38e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cantu syndrome Hypertrichosis 0.167 2 4.64e-7 2.90e-6 ✓ sig.
Acromegaloid facial appearance syndrome hypertrichotic osteochondrodysplasia Cantu type 0.500 1 6.49e-5 2.33e-4 ✓ sig.
hypertrichotic osteochondrodysplasia Cantu type Intellectual disability and myopathy syndrome 0.500 1 6.49e-5 2.33e-4 ✓ sig.
dilated cardiomyopathy 1O hypertrichotic osteochondrodysplasia Cantu type 0.500 1 6.49e-5 2.33e-4 ✓ sig.
dilated cardiomyopathy 1O Intellectual disability and myopathy syndrome 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Acromegaloid facial appearance syndrome dilated cardiomyopathy 1O 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Acromegaloid facial appearance syndrome Intellectual disability and myopathy syndrome 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Cantu syndrome Intellectual disability and myopathy syndrome 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Cantu syndrome hypertrichotic osteochondrodysplasia Cantu type 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Cantu syndrome dilated cardiomyopathy 1O 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Acromegaloid facial appearance syndrome Cantu syndrome 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Acromegaloid facial appearance syndrome Kleefstra syndrome 0.167 1 3.25e-4 7.71e-4 ✓ sig.
dilated cardiomyopathy 1O Kleefstra syndrome 0.167 1 3.25e-4 7.71e-4 ✓ sig.
hypertrichotic osteochondrodysplasia Cantu type Kleefstra syndrome 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Intellectual disability and myopathy syndrome Kleefstra syndrome 0.167 1 3.25e-4 7.71e-4 ✓ sig.
Cantu syndrome Kleefstra syndrome 0.143 1 6.49e-4 1.24e-3 ✓ sig.
Acromegaloid facial appearance syndrome Hypertrichosis 0.083 1 7.14e-4 1.34e-3 ✓ sig.