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 193

9 diseases · 26 shared-gene connections
9 Diseases
7 Unique genes
0.325 Avg. similarity score
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like Most-connected disease (7 links)
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Disease Searched: Exfoliative ichthyosis, ichthyosis bullosa of siemens-like 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 ⇵
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like 7 7 1
Hyperkeratosis 7 7 2
Acral peeling skin syndrome 6 6 2
Erythema 6 6 3
Hyperhidrosis 6 6 1
Peeling skin syndrome 6 6 7
Skin erosions 6 6 2
Erythroderma 5 5 1
Increased ige level 3 3 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CSTA 8 / 9 Acral peeling skin syndrome, Erythema, Erythroderma, Exfoliative ichthyosis, ichthyosis bullosa of siemens-like and 4 more
CDSN 4 / 9 Erythema, Hyperkeratosis, Increased ige level, Peeling skin syndrome
SERPINB8 3 / 9 Erythema, Peeling skin syndrome, Skin erosions
TGM5 2 / 9 Acral peeling skin syndrome, Peeling skin syndrome
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 ⇵
Formation of the cornified envelope
CSTA, TGM5, CDSN
 Reactome 3 / 130 39.6× 4.20e-5 8.82e-4 ✓ sig.
Reactions specific to the complex N-glycan synthesis pathway
CHST8
 Reactome 1 / 10 172× 5.82e-3 3.87e-2 ✓ sig.
Dissolution of Fibrin Clot
SERPINB8
 Reactome 1 / 13 132× 7.55e-3 4.59e-2 ✓ sig.
Various types of N-glycan biosynthesis
CHST8
 KEGG 1 / 43 39.9× 2.48e-2 9.50e-2
Neutrophil degranulation
FLG2
 Reactome 1 / 480 3.6× 2.48e-1 3.77e-1
Metabolic pathways
CHST8
 KEGG 1 / 1,563 1.1× 6.23e-1 7.21e-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 ⇵
keratinocyte differentiation
CSTA, CDSN
 GO:0030216 2 / 69 77.4× 2.79e-4 6.28e-3 ✓ sig.
negative regulation of cornification
CDSN
 GO:1905716 1 / 1 2,670× 3.75e-4 7.68e-3 ✓ sig.
corneocyte desquamation
CDSN
 GO:0003336 1 / 2 1,335× 7.49e-4 1.20e-2 ✓ sig.
epidermis development
TGM5, CDSN
 GO:0008544 2 / 114 46.8× 7.59e-4 1.22e-2 ✓ sig.
cell adhesion
CSTA, CDSN, FLG2
 GO:0007155 3 / 665 12.0× 1.41e-3 1.74e-2 ✓ sig.
epidermis morphogenesis
FLG2
 GO:0048730 1 / 7 381× 2.62e-3 2.41e-2 ✓ sig.
cell-cell adhesion
CSTA, CDSN
 GO:0098609 2 / 218 24.5× 2.74e-3 2.45e-2 ✓ sig.
negative regulation of endopeptidase activity
SERPINB8
 GO:0010951 1 / 10 267× 3.74e-3 2.86e-2 ✓ sig.
carbohydrate biosynthetic process
CHST8
 GO:0016051 1 / 11 243× 4.11e-3 3.02e-2 ✓ sig.
epithelial cell-cell adhesion
SERPINB8
 GO:0090136 1 / 12 222× 4.49e-3 3.14e-2 ✓ sig.
hormone biosynthetic process
CHST8
 GO:0042446 1 / 12 222× 4.49e-3 3.14e-2 ✓ sig.
skin morphogenesis
CDSN
 GO:0043589 1 / 13 205× 4.86e-3 3.26e-2 ✓ sig.
sulfur compound metabolic process
CHST8
 GO:0006790 1 / 17 157× 6.35e-3 3.72e-2 ✓ sig.
peptide cross-linking
CSTA
 GO:0018149 1 / 19 141× 7.10e-3 3.91e-2 ✓ sig.
proteoglycan biosynthetic process
CHST8
 GO:0030166 1 / 21 127× 7.84e-3 4.12e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Erythema Peeling skin syndrome 0.375 3 5.65e-11 5.40e-10 ✓ sig.
Erythema Hyperkeratosis 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Erythema Skin erosions 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Peeling skin syndrome Skin erosions 0.250 2 1.75e-7 1.18e-6 ✓ sig.
Hyperkeratosis Peeling skin syndrome 0.250 2 1.75e-7 1.18e-6 ✓ sig.
Acral peeling skin syndrome Peeling skin syndrome 0.250 2 1.75e-7 1.18e-6 ✓ sig.
Erythroderma Exfoliative ichthyosis, ichthyosis bullosa of siemens-like 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Erythroderma Hyperhidrosis 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like Hyperhidrosis 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acral peeling skin syndrome Hyperhidrosis 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hyperkeratosis Increased ige level 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hyperhidrosis Skin erosions 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hyperhidrosis Hyperkeratosis 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like Skin erosions 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like Hyperkeratosis 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Erythroderma Skin erosions 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Erythroderma Hyperkeratosis 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Acral peeling skin syndrome Erythroderma 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Acral peeling skin syndrome Exfoliative ichthyosis, ichthyosis bullosa of siemens-like 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Erythema Hyperhidrosis 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Erythema Exfoliative ichthyosis, ichthyosis bullosa of siemens-like 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Erythema Increased ige level 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Acral peeling skin syndrome Hyperkeratosis 0.250 1 2.58e-4 5.38e-4 ✓ sig.
Acral peeling skin syndrome Skin erosions 0.250 1 2.58e-4 5.38e-4 ✓ sig.
Increased ige level Peeling skin syndrome 0.125 1 4.52e-4 8.26e-4 ✓ sig.
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like Peeling skin syndrome 0.125 1 4.52e-4 8.26e-4 ✓ sig.