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Cluster 576

5 diseases · 10 shared-gene connections
5 Diseases
1 Unique genes
0.500 Avg. similarity score
Autoinflammation with arthritis and dyskeratosis Most-connected disease (4 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
NLRP1 5 / 5 Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Palmoplantar carcinoma, multiple self-healing, Respiratory papillomatosis, juvenile recurrent, congenital 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 ⇵
The NLRP1 inflammasome Reactome 1 / 3 4,003× 2.50e-4 3.91e-3 ✓ sig.
NOD-like receptor signaling pathway KEGG 1 / 187 64.2× 1.56e-2 7.43e-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 ⇵
canonical inflammasome complex assembly GO:0140632 1 / 2 9,344× 1.07e-4 3.25e-3 ✓ sig.
NLRP1 inflammasome complex assembly GO:1904784 1 / 8 2,336× 4.28e-4 8.53e-3 ✓ sig.
positive regulation of pyroptotic inflammatory response GO:0140639 1 / 9 2,076× 4.82e-4 9.24e-3 ✓ sig.
self proteolysis GO:0097264 1 / 11 1,699× 5.89e-4 1.06e-2 ✓ sig.
response to muramyl dipeptide GO:0032495 1 / 13 1,437× 6.96e-4 1.18e-2 ✓ sig.
cellular response to UV-B GO:0071493 1 / 14 1,335× 7.49e-4 1.23e-2 ✓ sig.
pyroptotic cell death GO:0141201 1 / 14 1,335× 7.49e-4 1.23e-2 ✓ sig.
pattern recognition receptor signaling pathway GO:0002221 1 / 21 890× 1.12e-3 1.55e-2 ✓ sig.
activation of innate immune response GO:0002218 1 / 37 505× 1.98e-3 2.11e-2 ✓ sig.
pyroptotic inflammatory response GO:0070269 1 / 40 467× 2.14e-3 2.19e-2 ✓ sig.
programmed cell death GO:0012501 1 / 42 445× 2.25e-3 2.24e-2 ✓ sig.
intrinsic apoptotic signaling pathway GO:0097193 1 / 45 415× 2.41e-3 2.32e-2 ✓ sig.
positive regulation of interleukin-1 beta production GO:0032731 1 / 66 283× 3.53e-3 2.82e-2 ✓ sig.
antiviral innate immune response GO:0140374 1 / 79 237× 4.23e-3 3.09e-2 ✓ sig.
neuron apoptotic process GO:0051402 1 / 98 191× 5.24e-3 3.42e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Autoinflammation with arthritis and dyskeratosis Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Autoinflammation with arthritis and dyskeratosis Vitiligo-associated multiple autoimmune disease susceptibility 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Autoinflammation with arthritis and dyskeratosis Palmoplantar carcinoma, multiple self-healing 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Autoinflammation with arthritis and dyskeratosis Respiratory papillomatosis, juvenile recurrent, congenital 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Vitiligo-associated multiple autoimmune disease susceptibility 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Palmoplantar carcinoma, multiple self-healing 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Respiratory papillomatosis, juvenile recurrent, congenital 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Palmoplantar carcinoma, multiple self-healing Vitiligo-associated multiple autoimmune disease susceptibility 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Palmoplantar carcinoma, multiple self-healing Respiratory papillomatosis, juvenile recurrent, congenital 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Respiratory papillomatosis, juvenile recurrent, congenital Vitiligo-associated multiple autoimmune disease susceptibility 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.