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 637
5
Diseases
1
Unique genes
0.500
Avg. similarity score
Ichthyosis, follicular, with atrichia and photophobia syndrome
Most-connected disease (4 links)
Disease
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Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Ichthyosis, follicular, with atrichia and photophobia syndrome
Ichthyosis, follicular, with atrichia and photophobia syndrome 2
Ifap syndrome 2
Mucoepithelial dysplasia
Urban-schosser-spohr syndrome
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Ichthyosis, follicular, with atrichia and photophobia syndrome | 4 | 4 | 1 |
| Ichthyosis, follicular, with atrichia and photophobia syndrome 2 | 4 | 4 | 1 |
| Ifap syndrome 2 | 4 | 4 | 1 |
| Mucoepithelial dysplasia | 4 | 4 | 1 |
| Urban-schosser-spohr syndrome | 4 | 4 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| SREBF1 | 5 / 5 | Ichthyosis, follicular, with atrichia and photophobia syndrome, Ichthyosis, follicular, with atrichia and photophobia syndrome 2, Ifap syndrome 2, Mucoepithelial dysplasia and 1 more |
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 ⇵ |
|---|---|---|---|---|---|
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | Reactome | 1 / 7 | 1,716× | 5.83e-4 | 7.52e-3 ✓ sig. |
| NR1H2 & NR1H3 regulate gene expression linked to lipogenesis | Reactome | 1 / 9 | 1,334× | 7.49e-4 | 9.09e-3 ✓ sig. |
| RORA activates gene expression | Reactome | 1 / 18 | 667× | 1.50e-3 | 1.54e-2 ✓ sig. |
| Activation of gene expression by SREBF (SREBP) | Reactome | 1 / 42 | 286× | 3.50e-3 | 2.83e-2 ✓ sig. |
| Insulin resistance | KEGG | 1 / 109 | 110× | 9.08e-3 | 5.36e-2 |
| PPARA activates gene expression | Reactome | 1 / 115 | 104× | 9.58e-3 | 5.54e-2 |
| AMPK signaling pathway | KEGG | 1 / 122 | 98.4× | 1.02e-2 | 5.74e-2 |
| Insulin signaling pathway | KEGG | 1 / 138 | 87.0× | 1.15e-2 | 6.20e-2 |
| Alcoholic liver disease | KEGG | 1 / 144 | 83.4× | 1.20e-2 | 6.34e-2 |
| Non-alcoholic fatty liver disease | KEGG | 1 / 157 | 76.5× | 1.31e-2 | 6.68e-2 |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| regulation of heart rate by chemical signal | GO:0003062 | 1 / 2 | 9,344× | 1.07e-4 | 3.25e-3 ✓ sig. |
| negative regulation of triglyceride metabolic process | GO:0090209 | 1 / 5 | 3,737× | 2.68e-4 | 6.25e-3 ✓ sig. |
| response to fructose | GO:0009750 | 1 / 7 | 2,670× | 3.75e-4 | 7.81e-3 ✓ sig. |
| regulation of protein targeting to mitochondrion | GO:1903214 | 1 / 8 | 2,336× | 4.28e-4 | 8.53e-3 ✓ sig. |
| SREBP signaling pathway | GO:0032933 | 1 / 9 | 2,076× | 4.82e-4 | 9.24e-3 ✓ sig. |
| response to glucagon | GO:0033762 | 1 / 10 | 1,869× | 5.35e-4 | 9.88e-3 ✓ sig. |
| regulation of fatty acid metabolic process | GO:0019217 | 1 / 11 | 1,699× | 5.89e-4 | 1.06e-2 ✓ sig. |
| regulation of mitophagy | GO:1901524 | 1 / 14 | 1,335× | 7.49e-4 | 1.23e-2 ✓ sig. |
| positive regulation of triglyceride biosynthetic process | GO:0010867 | 1 / 14 | 1,335× | 7.49e-4 | 1.23e-2 ✓ sig. |
| response to fatty acid | GO:0070542 | 1 / 18 | 1,038× | 9.63e-4 | 1.42e-2 ✓ sig. |
| response to lipid | GO:0033993 | 1 / 18 | 1,038× | 9.63e-4 | 1.42e-2 ✓ sig. |
| positive regulation of cholesterol biosynthetic process | GO:0045542 | 1 / 24 | 779× | 1.28e-3 | 1.67e-2 ✓ sig. |
| cellular response to fatty acid | GO:0071398 | 1 / 24 | 779× | 1.28e-3 | 1.67e-2 ✓ sig. |
| response to progesterone | GO:0032570 | 1 / 31 | 603× | 1.66e-3 | 1.93e-2 ✓ sig. |
| lipid biosynthetic process | GO:0008610 | 1 / 33 | 566× | 1.77e-3 | 1.99e-2 ✓ sig. |