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 232
7
Diseases
25
Unique genes
0.325
Avg. similarity score
Congenital ichthyosis
Most-connected disease (6 links)
Disease
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Congenital ichthyosis
Congenital ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
Ichthyosis
Lamellar ichthyosis
Acral self-healing collodion baby
Congenital ichthyosis with hypotrichosis syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Congenital ichthyosis | 6 | 6 | 13 |
| Congenital ichthyosiform erythroderma | 5 | 5 | 9 |
| Congenital nonbullous ichthyosiform erythroderma | 5 | 5 | 12 |
| Ichthyosis | 5 | 5 | 16 |
| Lamellar ichthyosis | 5 | 5 | 14 |
| Acral self-healing collodion baby | 4 | 4 | 1 |
| Congenital ichthyosis with hypotrichosis syndrome | 2 | 2 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| TGM1 | 6 / 7 | Acral self-healing collodion baby, Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma and 2 more |
| ABCA12 | 5 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis and 1 more |
| ALOX12B | 5 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis and 1 more |
| ALOXE3 | 5 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis and 1 more |
| CERS3 | 5 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis and 1 more |
| PNPLA1 | 5 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis and 1 more |
| NIPAL4 | 4 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Lamellar ichthyosis |
| SDR9C7 | 4 / 7 | Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Lamellar ichthyosis |
| CYP4F22 | 3 / 7 | Congenital ichthyosis, Ichthyosis, Lamellar ichthyosis |
| ST14 | 3 / 7 | Congenital ichthyosis, Congenital ichthyosis with hypotrichosis syndrome, Ichthyosis |
| SULT2B1 | 3 / 7 | Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma, Lamellar ichthyosis |
| CASP14 | 2 / 7 | Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
| KRT1 | 2 / 7 | Congenital ichthyosis, Ichthyosis |
| LIPN | 2 / 7 | Congenital ichthyosis, Lamellar ichthyosis |
| UGCG | 2 / 7 | 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 | Reactome | 7 / 130 | 25.9× | 6.05e-9 | 5.66e-7 ✓ sig. |
| Synthesis of 12-eicosatetraenoic acid derivatives | Reactome | 2 / 7 | 137× | 8.68e-5 | 2.00e-3 ✓ sig. |
| Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) | Reactome | 1 / 1 | 480× | 2.08e-3 | 2.35e-2 ✓ sig. |
| Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) | Reactome | 1 / 1 | 480× | 2.08e-3 | 2.35e-2 ✓ sig. |
| Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B | Reactome | 1 / 1 | 480× | 2.08e-3 | 2.35e-2 ✓ sig. |
| Transport of connexons to the plasma membrane | Reactome | 1 / 1 | 480× | 2.08e-3 | 2.35e-2 ✓ sig. |
| Sphingolipid metabolism | KEGG | 2 / 54 | 17.8× | 5.57e-3 | 4.70e-2 ✓ sig. |
| Arachidonic acid metabolism | KEGG | 2 / 63 | 15.3× | 7.52e-3 | 5.71e-2 |
| Transport of fatty acids | Reactome | 1 / 8 | 60.1× | 1.65e-2 | 9.23e-2 |
| Eicosanoids | Reactome | 1 / 12 | 40.0× | 2.47e-2 | 1.16e-1 |
| Miscellaneous substrates | Reactome | 1 / 12 | 40.0× | 2.47e-2 | 1.16e-1 |
| Interleukin-2 signaling | Reactome | 1 / 12 | 40.0× | 2.47e-2 | 1.16e-1 |
| Interleukin-15 signaling | Reactome | 1 / 13 | 37.0× | 2.67e-2 | 1.21e-1 |
| Fatty acids | Reactome | 1 / 15 | 32.0× | 3.08e-2 | 1.31e-1 |
| Extracellular matrix organization | Reactome | 1 / 15 | 32.0× | 3.08e-2 | 1.31e-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 ⇵ |
|---|---|---|---|---|---|
| establishment of skin barrier | GO:0061436 | 6 / 37 | 121× | 6.78e-12 | 2.59e-9 ✓ sig. |
| keratinocyte differentiation | GO:0030216 | 6 / 69 | 65.0× | 3.40e-10 | 8.56e-8 ✓ sig. |
| ceramide biosynthetic process | GO:0046513 | 5 / 41 | 91.2× | 2.03e-9 | 4.19e-7 ✓ sig. |
| peptide cross-linking | GO:0018149 | 4 / 19 | 157× | 9.52e-9 | 1.64e-6 ✓ sig. |
| keratinization | GO:0031424 | 5 / 73 | 51.2× | 3.96e-8 | 5.56e-6 ✓ sig. |
| lipid metabolic process | GO:0006629 | 10 / 840 | 8.9× | 5.64e-8 | 7.52e-6 ✓ sig. |
| cornification | GO:0070268 | 3 / 8 | 280× | 1.18e-7 | 1.39e-5 ✓ sig. |
| epidermis development | GO:0008544 | 5 / 114 | 32.8× | 3.73e-7 | 3.65e-5 ✓ sig. |
| sphingolipid metabolic process | GO:0006665 | 4 / 59 | 50.7× | 1.08e-6 | 8.81e-5 ✓ sig. |
| protein lipidation | GO:0006497 | 2 / 4 | 374× | 1.03e-5 | 5.33e-4 ✓ sig. |
| lipid oxidation | GO:0034440 | 2 / 8 | 187× | 4.79e-5 | 1.74e-3 ✓ sig. |
| hepoxilin biosynthetic process | GO:0051122 | 2 / 8 | 187× | 4.79e-5 | 1.74e-3 ✓ sig. |
| lipid homeostasis | GO:0055088 | 3 / 55 | 40.8× | 5.30e-5 | 1.88e-3 ✓ sig. |
| skin development | GO:0043588 | 3 / 55 | 40.8× | 5.30e-5 | 1.88e-3 ✓ sig. |
| lipoxygenase pathway | GO:0019372 | 2 / 11 | 136× | 9.38e-5 | 2.88e-3 ✓ sig. |