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 116

11 diseases · 22 shared-gene connections
11 Diseases
59 Unique genes
0.231 Avg. similarity score
Primary aldosteronism Most-connected disease (8 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 ⇵
Primary aldosteronism 8 8 16
Aldosterone-producing adenoma 5 5 1
Breast cyst 5 5 1
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 5 5 1
sinoatrial node dysfunction and deafness 5 5 1
Brain compression 4 4 2
Potassium deficiency 4 4 18
Peters plus syndrome 3 3 1
Disorder of sex development 2 2 1
Hyperplasia 2 2 31
neuropathy, hereditary sensory, type 1D 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CACNA1D 6 / 11 Aldosterone-producing adenoma, Brain compression, Breast cyst, Primary aldosteronism and 2 more
B3GLCT 4 / 11 Hyperplasia, Peters plus syndrome, Potassium deficiency, Primary aldosteronism
RXFP2 4 / 11 Disorder of sex development, Hyperplasia, Potassium deficiency, Primary aldosteronism
ATL1 2 / 11 neuropathy, hereditary sensory, type 1D, Potassium deficiency
CASZ1 2 / 11 Potassium deficiency, Primary aldosteronism
LSP1 2 / 11 Potassium deficiency, Primary aldosteronism
NDP 2 / 11 Hyperplasia, Primary aldosteronism
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 ⇵
Interleukin-4 and Interleukin-13 signaling
AKT1, CCND1, HIF1A, HMOX1, IL13, MMP9, PTGS2, TGFB1, POMC
 Reactome 9 / 108 17.0× 2.37e-9 2.40e-7 ✓ sig.
Pathways in cancer
CTNNA3, AKT1, CCND1, HIF1A, HMOX1, IL13, MMP9, NFE2L2, PIK3CA, PTGS2, TCF7L2, TGFB1
 KEGG 16 / 533 6.1× 3.38e-9 3.33e-7 ✓ sig.
Gastric cancer
CTNNA3, AKT1, CCND1, PIK3CA, TCF7L2, TGFB1, FGF5, LEF1, WNT2B
 KEGG 9 / 150 12.2× 4.29e-8 3.11e-6 ✓ sig.
Cushing syndrome
CACNA1D, CCND1, LDLR, TCF7L2, KCNK3, LEF1, AGT, POMC, WNT2B
 KEGG 9 / 155 11.8× 5.70e-8 4.01e-6 ✓ sig.
Hormone signaling
GLP1R, LEP, PIK3CA, ADRB2, AGT, INS, NPPB, POMC, SST, CCKAR
 KEGG 10 / 219 9.3× 9.53e-8 6.26e-6 ✓ sig.
Hepatocellular carcinoma
AKT1, CCND1, HMOX1, NFE2L2, PIK3CA, TCF7L2, TGFB1, LEF1, WNT2B
 KEGG 9 / 170 10.8× 1.26e-7 8.01e-6 ✓ sig.
Endometrial cancer
CTNNA3, AKT1, CCND1, PIK3CA, TCF7L2, LEF1
 KEGG 6 / 59 20.7× 3.99e-7 2.20e-5 ✓ sig.
Prostate cancer
AKT1, CCND1, MMP9, PIK3CA, TCF7L2, LEF1, INS
 KEGG 7 / 98 14.5× 4.68e-7 2.53e-5 ✓ sig.
Colorectal cancer
AKT1, CCND1, PIK3CA, TCF7L2, TGFB1, LEF1
 KEGG 6 / 87 14.0× 4.02e-6 1.59e-4 ✓ sig.
Kaposi sarcoma-associated herpesvirus infection
AKT1, CCND1, HIF1A, PIK3CA, PTGS2, TCF7L2, ZFP36, LEF1
 KEGG 8 / 196 8.3× 4.74e-6 1.82e-4 ✓ sig.
RUNX3 regulates WNT signaling
CCND1, TCF7L2, LEF1
 Reactome 3 / 8 76.3× 6.20e-6 2.25e-4 ✓ sig.
Breast cancer
AKT1, CCND1, PIK3CA, TCF7L2, FGF5, LEF1, WNT2B
 KEGG 7 / 148 9.6× 7.47e-6 2.63e-4 ✓ sig.
Regulation of lipolysis in adipocytes
AKT1, PIK3CA, PTGS2, ADRB2, INS
 KEGG 5 / 59 17.3× 9.84e-6 3.31e-4 ✓ sig.
Neuroactive ligand-receptor interaction
RXFP2, GLP1R, LEP, RLN3, ADRB2, AGT, NR3C1, POMC, SST, CCKAR
 KEGG 10 / 370 5.5× 1.11e-5 3.67e-4 ✓ sig.
Cortisol synthesis and secretion
CACNA1D, LDLR, KCNK3, AGT, POMC
 KEGG 5 / 65 15.7× 1.59e-5 4.94e-4 ✓ 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 transcription by RNA polymerase II
AKT1, BRD4, HIF1A, IL13, KDM1A, MYCN, NDP, NFE2L2, OGG1, TCF7L2, TGFB1, CASZ1
 GO:0045944 17 / 1,208 4.5× 1.11e-7 1.32e-5 ✓ sig.
glucose homeostasis
AKT1, HIF1A, LEP, TCF7L2, FBN2, INS, POMC
 GO:0042593 7 / 134 16.5× 2.08e-7 2.25e-5 ✓ sig.
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
AKT1, HSPB1, NFE2L2, INS
 GO:1902176 4 / 18 70.4× 2.65e-7 2.75e-5 ✓ sig.
positive regulation of blood vessel endothelial cell migration
AKT1, HIF1A, HSPB1, NFE2L2, TGFB1
 GO:0043536 5 / 51 31.1× 5.55e-7 5.11e-5 ✓ sig.
positive regulation of smooth muscle cell proliferation
AKT1, HMOX1, IL13, PIK3CA, TGFB1
 GO:0048661 5 / 52 30.5× 6.12e-7 5.55e-5 ✓ sig.
positive regulation of miRNA transcription
HIF1A, MYCN, TGFB1, AGT, NR3C1
 GO:1902895 5 / 56 28.3× 8.91e-7 7.54e-5 ✓ sig.
positive regulation of epithelial to mesenchymal transition
KDM1A, TCF7L2, TGFB1, LEF1, AGT
 GO:0010718 5 / 59 26.8× 1.16e-6 9.33e-5 ✓ sig.
glucose metabolic process
AKT1, LEP, PIK3CA, FBN2, INS
 GO:0006006 5 / 66 24.0× 2.04e-6 1.46e-4 ✓ sig.
cellular response to hypoxia
HIF1A, NDP, NFE2L2, PTGS2, TGFB1, KCNK3
 GO:0071456 6 / 139 13.7× 4.95e-6 2.98e-4 ✓ sig.
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
LEP, NDP, PIK3CA, TCF7L2, TGFB1, AGT, INS
 GO:0051897 7 / 217 10.2× 5.28e-6 3.14e-4 ✓ sig.
regulation of blood pressure
LEP, PTGS2, AGT, NPPB, POMC
 GO:0008217 5 / 83 19.1× 6.35e-6 3.63e-4 ✓ sig.
elastin metabolic process
HIF1A, LEP
 GO:0051541 2 / 2 317× 9.80e-6 5.13e-4 ✓ sig.
negative regulation of macroautophagy
AKT1, HMOX1, PIK3CA
 GO:0016242 3 / 14 67.9× 1.06e-5 5.45e-4 ✓ sig.
negative regulation of gene expression
AKT1, HIF1A, LDLR, MYCN, PIK3CA, TGFB1, AGT, INS
 GO:0010629 8 / 339 7.5× 1.07e-5 5.49e-4 ✓ sig.
retina vasculature development in camera-type eye
HIF1A, NDP, TGFB1
 GO:0061298 3 / 15 63.3× 1.32e-5 6.50e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Potassium deficiency Primary aldosteronism 0.129 4 2.36e-9 2.17e-8 ✓ sig.
Hyperplasia Primary aldosteronism 0.067 3 4.06e-6 2.26e-5 ✓ sig.
Aldosterone-producing adenoma Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Aldosterone-producing adenoma sinoatrial node dysfunction and deafness 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Aldosterone-producing adenoma Breast cyst 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Breast cyst Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Breast cyst sinoatrial node dysfunction and deafness 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome sinoatrial node dysfunction and deafness 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Aldosterone-producing adenoma Brain compression 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Brain compression Breast cyst 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Brain compression Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Brain compression sinoatrial node dysfunction and deafness 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Primary aldosteronism sinoatrial node dysfunction and deafness 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Primary aldosteronism Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Peters plus syndrome Primary aldosteronism 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Disorder of sex development Primary aldosteronism 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Breast cyst Primary aldosteronism 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Aldosterone-producing adenoma Primary aldosteronism 0.059 1 1.04e-3 1.72e-3 ✓ sig.
neuropathy, hereditary sensory, type 1D Potassium deficiency 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Peters plus syndrome Potassium deficiency 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Disorder of sex development Potassium deficiency 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Hyperplasia Peters plus syndrome 0.031 1 2.01e-3 2.89e-3 ✓ sig.