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 229

7 diseases · 15 shared-gene connections
7 Diseases
34 Unique genes
0.158 Avg. similarity score
Epidermolysis bullosa Most-connected disease (6 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 ⇵
Epidermolysis bullosa 6 6 21
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 5 5 1
Other epidermolysis bullosa 5 5 6
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 5 5 1
Aplasia cutis congenita 4 4 5
Junctional epidermolysis bullosa 4 4 18
mucopolysaccharidosis type 2 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
PLEC 6 / 7 Aplasia cutis congenita, Epidermolysa bullosa simplex and limb girdle muscular dystrophy, Epidermolysis bullosa, Junctional epidermolysis bullosa and 2 more
ITGB4 4 / 7 Aplasia cutis congenita, Epidermolysis bullosa, Junctional epidermolysis bullosa, Other epidermolysis bullosa
ITGA6 3 / 7 Epidermolysis bullosa, Junctional epidermolysis bullosa, Other epidermolysis bullosa
LAMB3 3 / 7 Epidermolysis bullosa, Junctional epidermolysis bullosa, Other epidermolysis bullosa
COL17A1 2 / 7 Junctional epidermolysis bullosa, Other epidermolysis bullosa
COL7A1 2 / 7 Epidermolysis bullosa, Junctional epidermolysis bullosa
IDS 2 / 7 Epidermolysis bullosa, mucopolysaccharidosis type 2
KLHL24 2 / 7 Epidermolysis bullosa, Junctional epidermolysis bullosa
KRT14 2 / 7 Epidermolysis bullosa, Junctional epidermolysis bullosa
KRT5 2 / 7 Epidermolysis bullosa, Junctional epidermolysis bullosa
LAMC2 2 / 7 Junctional epidermolysis bullosa, Other epidermolysis bullosa
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 ⇵
Type I hemidesmosome assembly
ITGB4, PLEC, KRT14, KRT5, ITGA6, LAMB3, CD151, DST, LAMA3, LAMC2, COL17A1
 Reactome 11 / 11 353× 1.53e-29 4.22e-26 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
ITGB4, PLEC, COL7A1, ITGA6, LAMB3, CD151, DST, LAMA3, LAMC2, COL17A1
 Reactome 10 / 51 69.3× 9.07e-17 4.14e-14 ✓ sig.
Laminin interactions
ITGB4, COL7A1, ITGA6, LAMB3, LAMA3, LAMC2, ITGA3
 Reactome 7 / 28 88.3× 8.56e-13 1.89e-10 ✓ sig.
ECM-receptor interaction
ITGB4, ITGA6, LAMB3, FREM2, LAMA3, LAMC2, ITGA3
 KEGG 7 / 89 27.8× 4.42e-9 4.24e-7 ✓ sig.
Formation of the cornified envelope
KRT14, KRT5, PKP1, DSP, JUP, CSTA, KRT2
 Reactome 7 / 130 19.0× 6.24e-8 4.35e-6 ✓ sig.
Anchoring fibril formation
COL7A1, LAMB3, LAMA3, LAMC2
 Reactome 4 / 15 94.2× 7.15e-8 4.88e-6 ✓ sig.
MET activates PTK2 signaling
LAMB3, LAMA3, LAMC2, ITGA3
 Reactome 4 / 30 47.1× 1.39e-6 6.51e-5 ✓ sig.
Keratinization
KRT14, KRT5, PKP1, DSP, JUP, KRT2
 Reactome 6 / 152 13.9× 3.74e-6 1.50e-4 ✓ sig.
Arrhythmogenic right ventricular cardiomyopathy
ITGB4, ITGA6, ITGA3, DSP, JUP
 KEGG 5 / 86 20.5× 3.96e-6 1.56e-4 ✓ sig.
Small cell lung cancer
ITGA6, LAMB3, LAMA3, LAMC2, ITGA3
 KEGG 5 / 93 19.0× 5.82e-6 2.15e-4 ✓ sig.
Focal adhesion
ITGB4, ITGA6, LAMB3, LAMA3, LAMC2, ITGA3
 KEGG 6 / 203 10.4× 1.96e-5 5.89e-4 ✓ sig.
Cytoskeleton in muscle cells
ITGB4, PLEC, ITGA6, ITGA3, DSP, JUP
 KEGG 6 / 232 9.1× 4.16e-5 1.10e-3 ✓ sig.
Toxoplasmosis
ITGA6, LAMB3, LAMA3, LAMC2
 KEGG 4 / 112 12.6× 2.68e-4 4.92e-3 ✓ sig.
Human papillomavirus infection
ITGB4, ITGA6, LAMB3, LAMA3, LAMC2, ITGA3
 KEGG 6 / 333 6.4× 3.03e-4 5.41e-3 ✓ sig.
Apoptotic cleavage of cell adhesion proteins
PKP1, DSP
 Reactome 2 / 11 64.2× 4.21e-4 6.96e-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 ⇵
hemidesmosome assembly
ITGB4, PLEC, DST, LAMA3, COL17A1
 GO:0031581 5 / 6 458× 8.79e-14 4.89e-11 ✓ sig.
epidermis development
KRT14, KRT5, COL7A1, LAMB3, LAMA3, LAMC2, COL17A1, DSP, KRT2
 GO:0008544 9 / 114 43.4× 3.92e-13 1.94e-10 ✓ sig.
cell adhesion
ITGB4, COL7A1, ITGA6, LAMB3, CD151, DST, FREM2, PKP1, LAMA3, LAMC2, ITGA3, JUP
 GO:0007155 13 / 665 10.7× 6.09e-11 1.84e-8 ✓ sig.
intermediate filament organization
PLEC, KRT14, KRT5, KLHL24, DSP, KRT2
 GO:0045109 6 / 70 47.1× 2.75e-9 5.47e-7 ✓ sig.
cell-cell adhesion
ITGB4, ITGA6, PKP1, LAMA3, ITGA3, DSP, JUP, CSTA
 GO:0098609 8 / 218 20.2× 4.22e-9 8.01e-7 ✓ sig.
keratinocyte development
PLEC, EXPH5, KRT2
 GO:0003334 3 / 11 150× 8.99e-7 7.60e-5 ✓ sig.
skin development
PLEC, ITGA3, DSP, JUP
 GO:0043588 4 / 55 40.0× 2.92e-6 1.95e-4 ✓ sig.
peptide cross-linking
DSP, CSTA, KRT2
 GO:0018149 3 / 19 86.8× 5.23e-6 3.11e-4 ✓ sig.
keratinocyte differentiation
PLEC, KRT14, DSP, CSTA
 GO:0030216 4 / 69 31.9× 7.26e-6 4.04e-4 ✓ sig.
intermediate filament cytoskeleton organization
PLEC, DST, DSP
 GO:0045104 3 / 23 71.7× 9.51e-6 5.02e-4 ✓ sig.
cell communication
DLL4, ITGB4, FREM2, GPR33
 GO:0007154 4 / 80 27.5× 1.31e-5 6.45e-4 ✓ sig.
integrin-mediated signaling pathway
ITGB4, ITGA6, DST, ITGA3
 GO:0007229 4 / 100 22.0× 3.16e-5 1.27e-3 ✓ sig.
endodermal cell differentiation
COL7A1, LAMB3, LAMA3
 GO:0035987 3 / 36 45.8× 3.77e-5 1.45e-3 ✓ sig.
cell-matrix adhesion
ITGB4, ITGA6, COL17A1, ITGA3
 GO:0007160 4 / 105 20.9× 3.83e-5 1.47e-3 ✓ sig.
bundle of His cell-Purkinje myocyte adhesion involved in cell communication
DSP, JUP
 GO:0086073 2 / 6 183× 4.80e-5 1.74e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Epidermolysis bullosa Junctional epidermolysis bullosa 0.250 8 1.13e-19 2.24e-18 ✓ sig.
Junctional epidermolysis bullosa Other epidermolysis bullosa 0.316 6 1.00e-18 1.88e-17 ✓ sig.
Epidermolysis bullosa Other epidermolysis bullosa 0.167 4 3.83e-11 4.19e-10 ✓ sig.
Aplasia cutis congenita Other epidermolysis bullosa 0.200 2 1.26e-6 7.70e-6 ✓ sig.
Aplasia cutis congenita Epidermolysis bullosa 0.080 2 1.77e-5 8.93e-5 ✓ sig.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Aplasia cutis congenita Epidermolysa bullosa simplex and limb girdle muscular dystrophy 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Aplasia cutis congenita PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Other epidermolysis bullosa 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Other epidermolysis bullosa PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Junctional epidermolysis bullosa 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Junctional epidermolysis bullosa PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa 0.045 1 1.36e-3 2.13e-3 ✓ sig.
Epidermolysis bullosa mucopolysaccharidosis type 2 0.045 1 1.36e-3 2.13e-3 ✓ sig.
Epidermolysis bullosa PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0.045 1 1.36e-3 2.13e-3 ✓ sig.