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Cluster 364

5 diseases · 7 shared-gene connections
5 Diseases
12 Unique genes
0.201 Avg. similarity score
Ataxia telangiectasia 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)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Ataxia telangiectasia 4 4 11
ATM-related cancer predisposition 3 3 1
Chromosome 17q21.31 deletion syndrome 3 3 3
Conjunctival telangiectasis 3 3 1
Intracranial germ cell tumor 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
ATM 4 / 5 Ataxia telangiectasia, ATM-related cancer predisposition, Chromosome 17q21.31 deletion syndrome, Conjunctival telangiectasis
BAK1 2 / 5 Ataxia telangiectasia, Intracranial germ cell tumor
C11ORF65 2 / 5 Ataxia telangiectasia, Chromosome 17q21.31 deletion 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 ⇵
Thyroid cancer KEGG 3 / 37 81.1× 5.81e-6 2.14e-4 ✓ sig.
Release of apoptotic factors from the mitochondria Reactome 2 / 5 400× 9.14e-6 3.12e-4 ✓ sig.
HDR through Homologous Recombination (HRR) Reactome 3 / 48 62.6× 1.29e-5 4.14e-4 ✓ sig.
Hepatitis C KEGG 4 / 159 25.2× 1.35e-5 4.30e-4 ✓ sig.
Sensing of DNA Double Strand Breaks Reactome 2 / 6 334× 1.37e-5 4.36e-4 ✓ sig.
Endometrial cancer KEGG 3 / 59 50.9× 2.40e-5 6.93e-4 ✓ sig.
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) Reactome 2 / 10 200× 4.10e-5 1.09e-3 ✓ sig.
Melanoma KEGG 3 / 73 41.1× 4.56e-5 1.18e-3 ✓ sig.
Non-small cell lung cancer KEGG 3 / 73 41.1× 4.56e-5 1.18e-3 ✓ sig.
Platinum drug resistance KEGG 3 / 75 40.0× 4.94e-5 1.27e-3 ✓ sig.
Glioma KEGG 3 / 76 39.5× 5.14e-5 1.31e-3 ✓ sig.
Pancreatic cancer KEGG 3 / 77 39.0× 5.35e-5 1.35e-3 ✓ sig.
Chronic myeloid leukemia KEGG 3 / 77 39.0× 5.35e-5 1.35e-3 ✓ sig.
Colorectal cancer KEGG 3 / 87 34.5× 7.71e-5 1.81e-3 ✓ sig.
Pathways in cancer KEGG 5 / 533 9.4× 1.03e-4 2.31e-3 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
positive regulation of protein-containing complex assembly GO:0031334 4 / 50 125× 2.21e-8 3.40e-6 ✓ sig.
B cell negative selection GO:0002352 2 / 2 1,557× 3.78e-7 3.70e-5 ✓ sig.
positive regulation of release of cytochrome c from mitochondria GO:0090200 3 / 25 187× 4.62e-7 4.37e-5 ✓ sig.
extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 3 / 36 130× 1.43e-6 1.10e-4 ✓ sig.
post-embryonic camera-type eye morphogenesis GO:0048597 2 / 4 779× 2.27e-6 1.59e-4 ✓ sig.
apoptotic process involved in blood vessel morphogenesis GO:1902262 2 / 5 623× 3.78e-6 2.40e-4 ✓ sig.
intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 3 / 54 86.5× 4.93e-6 2.97e-4 ✓ sig.
cellular response to UV GO:0034644 3 / 55 84.9× 5.21e-6 3.11e-4 ✓ sig.
negative regulation of endoplasmic reticulum calcium ion concentration GO:0032471 2 / 6 519× 5.66e-6 3.31e-4 ✓ sig.
positive regulation of IRE1-mediated unfolded protein response GO:1903896 2 / 8 389× 1.06e-5 5.43e-4 ✓ sig.
regulation of apoptotic signaling pathway GO:2001233 2 / 9 346× 1.36e-5 6.62e-4 ✓ sig.
leukocyte homeostasis GO:0001776 2 / 9 346× 1.36e-5 6.62e-4 ✓ sig.
regulation of apoptotic process GO:0042981 4 / 254 24.5× 1.51e-5 7.24e-4 ✓ sig.
vagina development GO:0060068 2 / 10 311× 1.70e-5 7.89e-4 ✓ sig.
establishment or maintenance of transmembrane electrochemical gradient GO:0010248 2 / 11 283× 2.07e-5 9.23e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Ataxia telangiectasia Chromosome 17q21.31 deletion syndrome 0.154 2 1.39e-6 8.41e-6 ✓ sig.
ATM-related cancer predisposition Conjunctival telangiectasis 0.500 1 6.49e-5 2.34e-4 ✓ sig.
ATM-related cancer predisposition Chromosome 17q21.31 deletion syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Chromosome 17q21.31 deletion syndrome Conjunctival telangiectasis 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Ataxia telangiectasia Conjunctival telangiectasis 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Ataxia telangiectasia ATM-related cancer predisposition 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Ataxia telangiectasia Intracranial germ cell tumor 0.083 1 7.14e-4 1.31e-3 ✓ sig.