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 296

6 diseases · 7 shared-gene connections
6 Diseases
87 Unique genes
0.100 Avg. similarity score
Cushing syndrome 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 ⇵
Cushing syndrome 4 4 21
Ocular hypertension 3 3 49
Charcot-Marie-tooth disease, axonal, type 2DD 2 2 1
Cushing's disease 2 2 11
Hyperaldosteronism 2 2 24
DDOST-congenital disorder of glycosylation 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
ATP1A1 3 / 6 Charcot-Marie-tooth disease, axonal, type 2DD, Cushing syndrome, Hyperaldosteronism
CDH23 3 / 6 Cushing syndrome, Cushing's disease, Ocular hypertension
NR3C1 3 / 6 Cushing syndrome, Cushing's disease, Ocular hypertension
ATP2B3 2 / 6 Cushing syndrome, Hyperaldosteronism
ATRX 2 / 6 Cushing syndrome, Cushing's disease
BRAF 2 / 6 Cushing syndrome, Cushing's disease
CACNA1D 2 / 6 Cushing syndrome, Hyperaldosteronism
CACNA1H 2 / 6 Cushing syndrome, Hyperaldosteronism
CLCN2 2 / 6 Cushing syndrome, Hyperaldosteronism
CYP11B1 2 / 6 Cushing syndrome, Hyperaldosteronism
CYP11B2 2 / 6 Cushing syndrome, Hyperaldosteronism
DDOST 2 / 6 DDOST-congenital disorder of glycosylation, Ocular hypertension
KCNJ5 2 / 6 Cushing syndrome, Hyperaldosteronism
POMC 2 / 6 Cushing syndrome, Cushing's disease
TP53 2 / 6 Cushing syndrome, Cushing's disease
USP48 2 / 6 Cushing syndrome, Cushing's disease
USP8 2 / 6 Cushing syndrome, Cushing's disease
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 ⇵
Cushing syndrome
BRAF, USP8, CACNA1D, CACNA1H, CRH, CYP11B1, GNAS, POMC, PRKACB, CDKN1A, AIP, GNAI2
 KEGG 12 / 155 10.7× 1.07e-9 1.20e-7 ✓ sig.
Aldosterone synthesis and secretion
ATP1A1, ATP2B3, CACNA1D, CACNA1H, CYP11B2, GNAS, KCNJ5, POMC, PRKACB
 KEGG 9 / 98 12.7× 3.35e-8 2.52e-6 ✓ sig.
Cortisol synthesis and secretion
CACNA1D, CACNA1H, CYP11B1, GNAS, POMC, PRKACB
 KEGG 6 / 65 12.7× 7.12e-6 2.52e-4 ✓ sig.
cAMP signaling pathway
BRAF, ATP1A1, ATP2B3, CACNA1D, CRH, GNAS, POMC, PRKACB, GNAI2
 KEGG 9 / 226 5.5× 3.62e-5 9.77e-4 ✓ sig.
Glucocorticoid biosynthesis
CYP11B1, CYP11B2, POMC
 Reactome 3 / 10 41.4× 4.25e-5 1.12e-3 ✓ sig.
Circadian entrainment
CACNA1D, CACNA1H, GNAS, KCNJ5, PRKACB, GNAI2
 KEGG 6 / 97 8.5× 7.08e-5 1.69e-3 ✓ sig.
Thyroid cancer
BRAF, TP53, CDKN1A, PPARG
 KEGG 4 / 37 14.9× 1.41e-4 2.97e-3 ✓ sig.
Serotonergic synapse
BRAF, CACNA1D, GNAS, KCNJ5, PRKACB, GNAI2
 KEGG 6 / 115 7.2× 1.82e-4 3.64e-3 ✓ sig.
Glutamatergic synapse
CACNA1D, GNAS, PRKACB, GRM8, GRIK1, GNAI2
 KEGG 6 / 116 7.1× 1.91e-4 3.77e-3 ✓ sig.
Bladder cancer
BRAF, TP53, CDKN1A, MMP1
 KEGG 4 / 41 13.5× 2.12e-4 4.09e-3 ✓ sig.
PKA activation in glucagon signalling
GNAS, PRKACB, PRKAR1A
 Reactome 3 / 17 24.4× 2.32e-4 4.39e-3 ✓ sig.
Transcriptional activation of cell cycle inhibitor p21
TP53, CDKN1A
 Reactome 2 / 4 69.0× 3.08e-4 5.48e-3 ✓ sig.
ADORA2B mediated anti-inflammatory cytokines production
CRH, GNAS, POMC, PRKACB, PRKAR1A, RXFP2
 Reactome 6 / 128 6.5× 3.25e-4 5.72e-3 ✓ sig.
Endocrine and other factor-regulated calcium reabsorption
ATP1A1, ATP2B3, GNAS, PRKACB
 KEGG 4 / 53 10.4× 5.74e-4 8.87e-3 ✓ sig.
Endocrine resistance
BRAF, TP53, GNAS, PRKACB, CDKN1A
 KEGG 5 / 99 7.0× 7.45e-4 1.09e-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 ⇵
aldosterone biosynthetic process
CACNA1H, CYP11B1, CYP11B2
 GO:0032342 3 / 3 215× 9.75e-8 1.18e-5 ✓ sig.
cortisol biosynthetic process
CACNA1H, CYP11B1, CYP11B2
 GO:0034651 3 / 5 129× 9.68e-7 8.09e-5 ✓ sig.
glucocorticoid biosynthetic process
CRH, CYP11B1, CYP11B2
 GO:0006704 3 / 7 92.1× 3.37e-6 2.19e-4 ✓ sig.
cellular response to potassium ion
CACNA1H, CYP11B1, CYP11B2
 GO:0035865 3 / 14 46.0× 3.42e-5 1.35e-3 ✓ sig.
renal water homeostasis
CYP11B2, GNAS, PRKACB
 GO:0003091 3 / 19 33.9× 8.95e-5 2.79e-3 ✓ sig.
adenylate cyclase-activating G protein-coupled receptor signaling pathway
AKAP6, GNAS, PRKACB, PRKAR1A, RXFP2, GNAI2
 GO:0007189 6 / 161 8.0× 1.06e-4 3.15e-3 ✓ sig.
calcium ion import
CACNA1D, CACNA1H, DDIT3
 GO:0070509 3 / 21 30.7× 1.22e-4 3.51e-3 ✓ sig.
cortisol metabolic process
CYP11B1, CYP11B2
 GO:0034650 2 / 4 107× 1.28e-4 3.64e-3 ✓ sig.
regulation of metal ion transport
AKAP6, CACNA1D
 GO:0010959 2 / 5 85.9× 2.12e-4 5.27e-3 ✓ sig.
C21-steroid hormone biosynthetic process
CYP11B1, CYP11B2
 GO:0006700 2 / 5 85.9× 2.12e-4 5.27e-3 ✓ sig.
cellular response to dexamethasone stimulus
NR3C1, USP8, CRH
 GO:0071549 3 / 29 22.2× 3.26e-4 7.11e-3 ✓ sig.
regulation of blood pressure
ATP1A1, CYP11B1, POMC, PPARG
 GO:0008217 4 / 83 10.4× 6.09e-4 1.10e-2 ✓ sig.
signal transduction by p53 class mediator
TP53, CDKN1A
 GO:0072331 2 / 9 47.7× 7.55e-4 1.26e-2 ✓ sig.
vascular endothelial cell response to laminar fluid shear stress
GNAS, PRKACB
 GO:0097700 2 / 9 47.7× 7.55e-4 1.26e-2 ✓ sig.
replication fork processing
ATRX, EXD2, TIMELESS
 GO:0031297 3 / 41 15.7× 9.14e-4 1.43e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cushing syndrome Cushing's disease 0.320 8 4.28e-22 9.42e-21 ✓ sig.
Cushing syndrome Hyperaldosteronism 0.211 8 1.89e-18 3.51e-17 ✓ sig.
Cushing's disease Ocular hypertension 0.034 2 5.36e-4 1.07e-3 ✓ sig.
Charcot-Marie-tooth disease, axonal, type 2DD Cushing syndrome 0.045 1 1.36e-3 2.13e-3 ✓ sig.
Charcot-Marie-tooth disease, axonal, type 2DD Hyperaldosteronism 0.040 1 1.56e-3 2.36e-3 ✓ sig.
Cushing syndrome Ocular hypertension 0.029 2 2.00e-3 2.89e-3 ✓ sig.
DDOST-congenital disorder of glycosylation Ocular hypertension 0.020 1 3.18e-3 4.16e-3 ✓ sig.