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 346

6 diseases · 15 shared-gene connections
6 Diseases
4 Unique genes
0.354 Avg. similarity score
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome 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 ⇵
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome 5 5 1
Bresek syndrome 5 5 1
Congenital palmoplantar and perioral keratoderma of olmsted 5 5 3
Keratosis follicularis spinulosa decalvans, x-linked 5 5 2
Olmsted syndrome, x-linked 5 5 2
ifap syndrome 1, with or without bresheck syndrome 5 5 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
MBTPS2 6 / 6 Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome, Bresek syndrome, Congenital palmoplantar and perioral keratoderma of olmsted, ifap syndrome 1, with or without bresheck syndrome and 2 more
YY2 2 / 6 Keratosis follicularis spinulosa decalvans, x-linked, Olmsted syndrome, x-linked
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 ⇵
ATF6 (ATF6-alpha) activates chaperones
MBTPS2
 Reactome 1 / 4 751× 1.33e-3 1.68e-2 ✓ sig.
CREB3 factors activate genes
MBTPS2
 Reactome 1 / 5 601× 1.66e-3 2.00e-2 ✓ sig.
Regulation of cholesterol biosynthesis by SREBP (SREBF)
MBTPS2
 Reactome 1 / 7 429× 2.33e-3 2.55e-2 ✓ sig.
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
PERP
 Reactome 1 / 14 214× 4.66e-3 4.18e-2 ✓ sig.
TRP channels
TRPV3
 Reactome 1 / 28 107× 9.29e-3 6.56e-2
p53 signaling pathway
PERP
 KEGG 1 / 75 40.0× 2.47e-2 1.16e-1
Polycomb repressive complex
YY2
 KEGG 1 / 83 36.2× 2.74e-2 1.23e-1
Inflammatory mediator regulation of TRP channels
TRPV3
 KEGG 1 / 99 30.3× 3.26e-2 1.35e-1
ATP-dependent chromatin remodeling
YY2
 KEGG 1 / 117 25.7× 3.84e-2 1.48e-1
Formation of the cornified envelope
PERP
 Reactome 1 / 130 23.1× 4.26e-2 1.57e-1
Protein processing in endoplasmic reticulum
MBTPS2
 KEGG 1 / 171 17.6× 5.58e-2 1.81e-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 ⇵
negative regulation of hair cycle
TRPV3
 GO:0042636 1 / 1 4,672× 2.14e-4 5.28e-3 ✓ sig.
bone maturation
MBTPS2
 GO:0070977 1 / 3 1,557× 6.42e-4 1.13e-2 ✓ sig.
regulation of response to endoplasmic reticulum stress
MBTPS2
 GO:1905897 1 / 4 1,168× 8.56e-4 1.36e-2 ✓ sig.
ATF6-mediated unfolded protein response
MBTPS2
 GO:0036500 1 / 8 584× 1.71e-3 2.07e-2 ✓ sig.
mammary gland duct morphogenesis
PERP
 GO:0060603 1 / 8 584× 1.71e-3 2.07e-2 ✓ sig.
desmosome organization
PERP
 GO:0002934 1 / 8 584× 1.71e-3 2.07e-2 ✓ sig.
positive regulation of T cell apoptotic process
PERP
 GO:0070234 1 / 9 519× 1.93e-3 2.20e-2 ✓ sig.
osmosensory signaling pathway
TRPV3
 GO:0007231 1 / 9 519× 1.93e-3 2.20e-2 ✓ sig.
regulation of cholesterol biosynthetic process
MBTPS2
 GO:0045540 1 / 12 389× 2.57e-3 2.58e-2 ✓ sig.
amelogenesis
PERP
 GO:0097186 1 / 12 389× 2.57e-3 2.58e-2 ✓ sig.
membrane protein intracellular domain proteolysis
MBTPS2
 GO:0031293 1 / 14 334× 2.99e-3 2.82e-2 ✓ sig.
response to temperature stimulus
TRPV3
 GO:0009266 1 / 14 334× 2.99e-3 2.82e-2 ✓ sig.
positive regulation of calcium ion import
TRPV3
 GO:0090280 1 / 17 275× 3.63e-3 3.14e-2 ✓ sig.
positive regulation of proteolysis
PERP
 GO:0045862 1 / 22 212× 4.70e-3 3.56e-2 ✓ sig.
positive regulation of cholesterol biosynthetic process
MBTPS2
 GO:0045542 1 / 24 195× 5.13e-3 3.71e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Keratosis follicularis spinulosa decalvans, x-linked Olmsted syndrome, x-linked 0.667 2 8.44e-9 7.20e-8 ✓ sig.
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Bresek syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome ifap syndrome 1, with or without bresheck syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Bresek syndrome ifap syndrome 1, with or without bresheck syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Keratosis follicularis spinulosa decalvans, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Olmsted syndrome, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Bresek syndrome Keratosis follicularis spinulosa decalvans, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Bresek syndrome Olmsted syndrome, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
ifap syndrome 1, with or without bresheck syndrome Keratosis follicularis spinulosa decalvans, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
ifap syndrome 1, with or without bresheck syndrome Olmsted syndrome, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Congenital palmoplantar and perioral keratoderma of olmsted 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Bresek syndrome Congenital palmoplantar and perioral keratoderma of olmsted 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Congenital palmoplantar and perioral keratoderma of olmsted ifap syndrome 1, with or without bresheck syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Congenital palmoplantar and perioral keratoderma of olmsted Keratosis follicularis spinulosa decalvans, x-linked 0.200 1 3.90e-4 8.52e-4 ✓ sig.
Congenital palmoplantar and perioral keratoderma of olmsted Olmsted syndrome, x-linked 0.200 1 3.90e-4 8.52e-4 ✓ sig.