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 119

11 diseases · 27 shared-gene connections
11 Diseases
32 Unique genes
0.141 Avg. similarity score
Congenital ichthyosis Most-connected disease (9 links)
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Disease Searched: Ichthyosis, congenital, autosomal recessive 14 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 ⇵
Congenital ichthyosis 9 9 15
Congenital nonbullous ichthyosiform erythroderma 9 9 12
Lamellar ichthyosis 9 9 14
Ichthyosis 6 6 22
Acral self-healing collodion baby 4 4 1
Ichthyosis, congenital, autosomal recessive 10 4 4 1
Ichthyosis, congenital, autosomal recessive 9 4 4 1
Ichthyosis, congenital, autosomal recessive 13 3 3 1
Ichthyosis, congenital, autosomal recessive 14 3 3 1
Ichthyosis, congenital, autosomal recessive 12 2 2 1
Ichthyosis prematurity syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CERS3 5 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Ichthyosis, congenital, autosomal recessive 9 and 1 more
PNPLA1 5 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Ichthyosis, congenital, autosomal recessive 10 and 1 more
TGM1 5 / 11 Acral self-healing collodion baby, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis and 1 more
ABCA12 4 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Lamellar ichthyosis
ALOX12B 4 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Lamellar ichthyosis
ALOXE3 4 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Lamellar ichthyosis
SDR9C7 4 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, congenital, autosomal recessive 13, Lamellar ichthyosis
SULT2B1 4 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, congenital, autosomal recessive 14, Lamellar ichthyosis
CASP14 3 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, congenital, autosomal recessive 12
CYP4F22 3 / 11 Congenital ichthyosis, Ichthyosis, Lamellar ichthyosis
NIPAL4 3 / 11 Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Lamellar ichthyosis
KRT1 2 / 11 Congenital ichthyosis, Ichthyosis
LIPN 2 / 11 Congenital ichthyosis, Lamellar ichthyosis
SLC27A4 2 / 11 Ichthyosis prematurity syndrome, Lamellar ichthyosis
ST14 2 / 11 Congenital ichthyosis, Ichthyosis
UGCG 2 / 11 Congenital nonbullous ichthyosiform erythroderma, Ichthyosis
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
TGM1, KRT1, ST14, LIPN, CASP14, FLG, KRT2, PERP, CSTA
 Reactome 9 / 130 26.0× 3.51e-11 4.04e-9 ✓ sig.
Synthesis of 12-eicosatetraenoic acid derivatives
ALOX12B, ALOXE3
 Reactome 2 / 7 107× 1.43e-4 2.29e-3 ✓ sig.
Sphingolipid metabolism
CERS3, UGCG, SGPL1
 KEGG 3 / 54 20.9× 3.89e-4 5.09e-3 ✓ sig.
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
SLC27A4
 Reactome 1 / 1 375× 2.66e-3 2.20e-2 ✓ sig.
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
CYP4F22
 Reactome 1 / 1 375× 2.66e-3 2.20e-2 ✓ sig.
Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
ABCA12
 Reactome 1 / 1 375× 2.66e-3 2.20e-2 ✓ sig.
Transport of connexons to the plasma membrane
GJB2
 Reactome 1 / 1 375× 2.66e-3 2.20e-2 ✓ sig.
Defective MPDU1 causes MPDU1-CDG (CDG-1f)
MPDU1
 Reactome 1 / 1 375× 2.66e-3 2.20e-2 ✓ sig.
Sphingolipid de novo biosynthesis
CERS3, SGPL1
 Reactome 2 / 43 17.5× 5.80e-3 3.82e-2 ✓ sig.
Glycosphingolipid metabolism
UGCG, STS
 Reactome 2 / 46 16.3× 6.62e-3 4.17e-2 ✓ sig.
Steroid hormone biosynthesis
SULT2B1, STS
 KEGG 2 / 63 11.9× 1.21e-2 6.14e-2
Arachidonic acid metabolism
ALOX12B, ALOXE3
 KEGG 2 / 63 11.9× 1.21e-2 6.14e-2
Transport of fatty acids
SLC27A4
 Reactome 1 / 8 46.9× 2.11e-2 8.57e-2
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
MPDU1
 Reactome 1 / 11 34.1× 2.89e-2 1.03e-1
Eicosanoids
CYP4F22
 Reactome 1 / 12 31.3× 3.15e-2 1.09e-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
TGM1, ST14, ABCA12, CERS3, UGCG, FLG, CSTA
 GO:0030216 7 / 69 59.2× 2.14e-11 7.06e-9 ✓ sig.
establishment of skin barrier
KRT1, ALOX12B, ALOXE3, ABCA12, UGCG, FLG
 GO:0061436 6 / 37 94.7× 3.44e-11 1.08e-8 ✓ sig.
peptide cross-linking
TGM1, KRT1, FLG, KRT2, CSTA
 GO:0018149 5 / 19 154× 1.21e-10 3.38e-8 ✓ sig.
lipid metabolic process
PNPLA1, ALOX12B, ALOXE3, CYP4F22, LIPN, CERS3, SULT2B1, UGCG, ABHD5, SLC27A4, STS, SGPL1
 GO:0006629 12 / 840 8.3× 6.19e-9 1.08e-6 ✓ sig.
ceramide biosynthetic process
PNPLA1, ALOX12B, ALOXE3, CYP4F22, CERS3
 GO:0046513 5 / 41 71.2× 7.61e-9 1.29e-6 ✓ sig.
epidermis development
CERS3, CASP14, UGCG, COL7A1, KRT2, STS
 GO:0008544 6 / 114 30.7× 3.59e-8 5.01e-6 ✓ sig.
sphingolipid metabolic process
ALOX12B, ALOXE3, CERS3, UGCG, SGPL1
 GO:0006665 5 / 59 49.5× 4.98e-8 6.59e-6 ✓ sig.
keratinization
TGM1, KRT1, ABCA12, CASP14, KRT2
 GO:0031424 5 / 73 40.0× 1.47e-7 1.64e-5 ✓ sig.
cornification
LIPN, CERS3, CASP14
 GO:0070268 3 / 8 219× 2.54e-7 2.58e-5 ✓ sig.
protein lipidation
ALOX12B, UGCG
 GO:0006497 2 / 4 292× 1.70e-5 7.65e-4 ✓ sig.
fatty acid metabolic process
ALOX12B, ALOXE3, ABHD5, SLC27A4, SGPL1
 GO:0006631 5 / 211 13.8× 2.75e-5 1.10e-3 ✓ sig.
lipid oxidation
ALOX12B, ALOXE3
 GO:0034440 2 / 8 146× 7.90e-5 2.44e-3 ✓ sig.
hepoxilin biosynthetic process
ALOX12B, ALOXE3
 GO:0051122 2 / 8 146× 7.90e-5 2.44e-3 ✓ sig.
lipid homeostasis
PNPLA1, ABCA12, ABHD5
 GO:0055088 3 / 55 31.9× 1.13e-4 3.17e-3 ✓ sig.
skin development
ASPRV1, ERCC2, SLC27A4
 GO:0043588 3 / 55 31.9× 1.13e-4 3.17e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital ichthyosis Lamellar ichthyosis 0.579 11 1.62e-33 3.42e-32 ✓ sig.
Congenital ichthyosis Congenital nonbullous ichthyosiform erythroderma 0.556 10 9.08e-31 1.80e-29 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Lamellar ichthyosis 0.500 9 3.12e-27 5.73e-26 ✓ sig.
Congenital ichthyosis Ichthyosis 0.310 9 1.76e-23 2.87e-22 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Ichthyosis 0.250 7 3.18e-18 4.37e-17 ✓ sig.
Ichthyosis Lamellar ichthyosis 0.233 7 1.37e-17 1.84e-16 ✓ sig.
Acral self-healing collodion baby Congenital nonbullous ichthyosiform erythroderma 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Ichthyosis, congenital, autosomal recessive 9 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Ichthyosis, congenital, autosomal recessive 14 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Ichthyosis, congenital, autosomal recessive 10 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Ichthyosis, congenital, autosomal recessive 13 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Congenital nonbullous ichthyosiform erythroderma Ichthyosis, congenital, autosomal recessive 12 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Acral self-healing collodion baby Lamellar ichthyosis 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Ichthyosis, congenital, autosomal recessive 9 Lamellar ichthyosis 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Ichthyosis, congenital, autosomal recessive 14 Lamellar ichthyosis 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Ichthyosis, congenital, autosomal recessive 13 Lamellar ichthyosis 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Ichthyosis, congenital, autosomal recessive 10 Lamellar ichthyosis 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Ichthyosis prematurity syndrome Lamellar ichthyosis 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Congenital ichthyosis Ichthyosis, congenital, autosomal recessive 12 0.063 1 9.68e-4 1.50e-3 ✓ sig.
Congenital ichthyosis Ichthyosis, congenital, autosomal recessive 10 0.063 1 9.68e-4 1.50e-3 ✓ sig.
Congenital ichthyosis Ichthyosis, congenital, autosomal recessive 13 0.063 1 9.68e-4 1.50e-3 ✓ sig.
Congenital ichthyosis Ichthyosis, congenital, autosomal recessive 14 0.063 1 9.68e-4 1.50e-3 ✓ sig.
Acral self-healing collodion baby Congenital ichthyosis 0.063 1 9.68e-4 1.50e-3 ✓ sig.
Congenital ichthyosis Ichthyosis, congenital, autosomal recessive 9 0.063 1 9.68e-4 1.50e-3 ✓ sig.
Ichthyosis Ichthyosis, congenital, autosomal recessive 10 0.043 1 1.42e-3 2.04e-3 ✓ sig.
Acral self-healing collodion baby Ichthyosis 0.043 1 1.42e-3 2.04e-3 ✓ sig.
Ichthyosis Ichthyosis, congenital, autosomal recessive 9 0.043 1 1.42e-3 2.04e-3 ✓ sig.