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 204

8 diseases · 15 shared-gene connections
8 Diseases
15 Unique genes
0.262 Avg. similarity score
Androgen insensitivity syndrome Most-connected disease (5 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 ⇵
Androgen insensitivity syndrome 5 5 2
Bulbo-spinal atrophy, x-linked 5 5 1
Kennedy disease 5 5 1
Partial androgen insensitivity syndrome 5 5 1
Male breast neoplasms 4 4 4
Prostatic intraepithelial neoplasia 4 4 11
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations 1 1 1
meier-gorlin syndrome 7 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
AR 6 / 8 Androgen insensitivity syndrome, Bulbo-spinal atrophy, x-linked, Kennedy disease, Male breast neoplasms and 2 more
CDC45 2 / 8 Androgen insensitivity syndrome, meier-gorlin syndrome 7
TOP2B 2 / 8 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations, Prostatic intraepithelial neoplasia
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 ⇵
Pathways in cancer
AR, CDH1, CDKN1B, ESR1, ESR2, GSTP1, PIM1, PTEN
 KEGG 8 / 533 12.0× 6.98e-8 4.79e-6 ✓ sig.
Prostate cancer
AR, CDKN1B, GSTP1, PTEN
 KEGG 4 / 98 32.7× 5.31e-6 1.99e-4 ✓ sig.
Nuclear Receptor transcription pathway
AR, ESR1, ESR2
 Reactome 3 / 52 46.2× 3.36e-5 9.20e-4 ✓ sig.
ESR-mediated signaling
ESR1, ESR2
 Reactome 2 / 11 146× 7.96e-5 1.86e-3 ✓ sig.
Endocrine resistance
CDKN1B, ESR1, ESR2
 KEGG 3 / 99 24.3× 2.30e-4 4.37e-3 ✓ sig.
MicroRNAs in cancer
CDKN1B, DNMT1, PIM1, PTEN
 KEGG 4 / 311 10.3× 4.80e-4 7.72e-3 ✓ sig.
SUMOylation of intracellular receptors
AR, ESR1
 Reactome 2 / 27 59.3× 5.02e-4 7.99e-3 ✓ sig.
Breast cancer
ESR1, ESR2, PTEN
 KEGG 3 / 148 16.2× 7.48e-4 1.09e-2 ✓ sig.
Cell cycle
CDC45, CHEK2, CDKN1B
 KEGG 3 / 158 15.2× 9.05e-4 1.26e-2 ✓ sig.
Ovarian tumor domain proteases
ESR1, PTEN
 Reactome 2 / 38 42.1× 9.97e-4 1.35e-2 ✓ sig.
PTEN Loss of Function in Cancer
PTEN
 Reactome 1 / 1 801× 1.25e-3 1.60e-2 ✓ sig.
Chemical carcinogenesis - receptor activation
AR, ESR1, ESR2
 KEGG 3 / 215 11.2× 2.20e-3 2.44e-2 ✓ sig.
Extra-nuclear estrogen signaling
ESR1, ESR2
 Reactome 2 / 58 27.6× 2.31e-3 2.54e-2 ✓ sig.
Endometrial cancer
CDH1, PTEN
 KEGG 2 / 59 27.1× 2.39e-3 2.60e-2 ✓ sig.
Prolactin signaling pathway
ESR1, ESR2
 KEGG 2 / 71 22.6× 3.44e-3 3.40e-2 ✓ 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 ⇵
estrogen receptor signaling pathway
AR, ESR1, ESR2
 GO:0030520 3 / 24 156× 8.38e-7 7.19e-5 ✓ sig.
cellular response to bisphenol A
CHEK2, DNMT1
 GO:1903926 2 / 4 623× 3.61e-6 2.31e-4 ✓ sig.
negative regulation of vascular associated smooth muscle cell proliferation
CDKN1B, GSTP1, PTEN
 GO:1904706 3 / 43 86.9× 5.07e-6 3.04e-4 ✓ sig.
positive regulation of DNA-templated transcription
AR, CHEK2, CDH1, ESR1, ESR2, PIM1
 GO:0045893 6 / 778 9.6× 1.85e-5 8.45e-4 ✓ sig.
cellular response to lithium ion
CDH1, CDKN1B
 GO:0071285 2 / 15 166× 6.28e-5 2.13e-3 ✓ sig.
cellular response to oxygen-containing compound
ESR1, ESR2
 GO:1901701 2 / 16 156× 7.17e-5 2.36e-3 ✓ sig.
mammary gland alveolus development
AR, ESR1
 GO:0060749 2 / 17 147× 8.12e-5 2.59e-3 ✓ sig.
negative regulation of growth
CDKN1B, MT2A
 GO:0045926 2 / 18 138× 9.13e-5 2.83e-3 ✓ sig.
cellular response to estrogen stimulus
AR, ESR1
 GO:0071391 2 / 19 131× 1.02e-4 3.07e-3 ✓ sig.
negative regulation of DNA-binding transcription factor activity
ESR1, PIM1
 GO:0043433 2 / 23 108× 1.51e-4 4.11e-3 ✓ sig.
positive regulation of DNA-binding transcription factor activity
ESR1, ESR2
 GO:0051091 2 / 27 92.3× 2.09e-4 5.20e-3 ✓ sig.
apoptotic process
CHEK2, TOX3, CDKN1B, PIM1, PTEN
 GO:0006915 5 / 747 8.3× 2.16e-4 5.33e-3 ✓ sig.
cellular response to estradiol stimulus
ESR1, ESR2
 GO:0071392 2 / 36 69.2× 3.73e-4 7.80e-3 ✓ sig.
negative regulation of extrinsic apoptotic signaling pathway
AR, GSTP1
 GO:2001237 2 / 41 60.8× 4.84e-4 9.34e-3 ✓ sig.
DNA damage response, signal transduction by p53 class mediator
CHEK2, CDKN1B
 GO:0030330 2 / 48 51.9× 6.64e-4 1.15e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Bulbo-spinal atrophy, x-linked Partial androgen insensitivity syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked Kennedy disease 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Kennedy disease Partial androgen insensitivity syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Androgen insensitivity syndrome Bulbo-spinal atrophy, x-linked 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Androgen insensitivity syndrome Partial androgen insensitivity syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Androgen insensitivity syndrome Kennedy disease 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Androgen insensitivity syndrome meier-gorlin syndrome 7 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked Male breast neoplasms 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Kennedy disease Male breast neoplasms 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Male breast neoplasms Partial androgen insensitivity syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Androgen insensitivity syndrome Male breast neoplasms 0.167 1 5.19e-4 1.04e-3 ✓ sig.
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations Prostatic intraepithelial neoplasia 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Bulbo-spinal atrophy, x-linked Prostatic intraepithelial neoplasia 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Kennedy disease Prostatic intraepithelial neoplasia 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Partial androgen insensitivity syndrome Prostatic intraepithelial neoplasia 0.083 1 7.14e-4 1.31e-3 ✓ sig.