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 268

7 diseases · 9 shared-gene connections
7 Diseases
27 Unique genes
0.115 Avg. similarity score
Pseudohypoparathyroidism Most-connected disease (5 links)
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Disease Searched: pseudohypoaldosteronism type 2E 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 ⇵
Pseudohypoparathyroidism 5 5 13
Bronchiectasis 4 4 17
Liddle syndrome 3 3 4
pseudohypoaldosteronism, type IB1, autosomal recessive 3 3 1
congenital disorder of glycosylation, type 2v 1 1 1
pseudohypoaldosteronism type 2D 1 1 1
pseudohypoaldosteronism type 2E 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
SCNN1A 4 / 7 Bronchiectasis, Liddle syndrome, pseudohypoaldosteronism, type IB1, autosomal recessive, Pseudohypoparathyroidism
SCNN1B 3 / 7 Bronchiectasis, Liddle syndrome, Pseudohypoparathyroidism
SCNN1G 3 / 7 Bronchiectasis, Liddle syndrome, Pseudohypoparathyroidism
CUL3 2 / 7 pseudohypoaldosteronism type 2E, Pseudohypoparathyroidism
EDEM3 2 / 7 Bronchiectasis, congenital disorder of glycosylation, type 2v
KLHL3 2 / 7 pseudohypoaldosteronism type 2D, Pseudohypoparathyroidism
LTBR 2 / 7 Bronchiectasis, Pseudohypoparathyroidism
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 ⇵
Stimuli-sensing channels
SCNN1B, SCNN1A, SCNN1G, WNK1, WNK4
 Reactome 5 / 79 28.2× 7.81e-7 3.76e-5 ✓ sig.
Aldosterone-regulated sodium reabsorption
SCNN1B, SCNN1A, SCNN1G, NR3C2
 KEGG 4 / 38 46.8× 1.42e-6 6.36e-5 ✓ sig.
Parathyroid hormone synthesis, secretion and action
GNAS, WNK1, WNK4, PTH1R
 KEGG 4 / 115 15.5× 1.18e-4 2.49e-3 ✓ sig.
Taste transduction
SCNN1B, SCNN1A, SCNN1G
 KEGG 3 / 86 15.5× 9.16e-4 1.25e-2 ✓ sig.
NF-kappa B signaling pathway
ICAM1, TNF, LTBR
 KEGG 3 / 105 12.7× 1.63e-3 1.96e-2 ✓ sig.
African trypanosomiasis
ICAM1, TNF
 KEGG 2 / 37 24.0× 3.09e-3 3.12e-2 ✓ sig.
Negative regulation of NOTCH4 signaling
NOTCH4
 Reactome 1 / 2 222× 4.49e-3 4.07e-2 ✓ sig.
NOTCH4 Activation and Transmission of Signal to the Nucleus
NOTCH4
 Reactome 1 / 2 222× 4.49e-3 4.07e-2 ✓ sig.
ABC transporters
CFTR, TAP1
 KEGG 2 / 45 19.8× 4.54e-3 4.10e-2 ✓ sig.
Interleukin-10 signaling
ICAM1, TNF
 Reactome 2 / 47 18.9× 4.94e-3 4.35e-2 ✓ sig.
Malaria
ICAM1, TNF
 KEGG 2 / 50 17.8× 5.58e-3 4.71e-2 ✓ sig.
Vibrio cholerae infection
CFTR, GNAS
 KEGG 2 / 51 17.4× 5.80e-3 4.84e-2 ✓ sig.
Endocrine and other factor-regulated calcium reabsorption
GNAS, PTH1R
 KEGG 2 / 53 16.8× 6.25e-3 5.09e-2
RHO GTPases regulate CFTR trafficking
CFTR
 Reactome 1 / 3 148× 6.73e-3 5.34e-2
Renin secretion
REN, GNAS
 KEGG 2 / 69 12.9× 1.04e-2 7.12e-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 ⇵
multicellular organismal-level water homeostasis
CFTR, SCNN1B, SCNN1A, SCNN1G
 GO:0050891 4 / 12 231× 1.70e-9 3.55e-7 ✓ sig.
regulation of blood pressure
SCNN1B, SCNN1A, SCNN1G, REN, WNK1, WNK4
 GO:0008217 6 / 83 50.0× 1.76e-9 3.66e-7 ✓ sig.
sensory perception of salty taste
SCNN1B, SCNN1A, SCNN1G
 GO:0050914 3 / 4 519× 1.07e-8 1.79e-6 ✓ sig.
cellular response to acidic pH
SCNN1B, SCNN1A, SCNN1G, GNAS
 GO:0071468 4 / 22 126× 2.48e-8 3.70e-6 ✓ sig.
cellular response to aldosterone
SCNN1B, SCNN1A, SCNN1G
 GO:1904045 3 / 7 297× 9.38e-8 1.13e-5 ✓ sig.
cellular response to vasopressin
SCNN1B, SCNN1A, SCNN1G
 GO:1904117 3 / 8 260× 1.50e-7 1.70e-5 ✓ sig.
sensory perception of sour taste
SCNN1B, SCNN1A, SCNN1G
 GO:0050915 3 / 9 231× 2.25e-7 2.39e-5 ✓ sig.
sodium ion transmembrane transport
SCNN1B, SCNN1A, SCNN1G, WNK1, WNK4
 GO:0035725 5 / 134 25.8× 1.25e-6 9.97e-5 ✓ sig.
distal tubule morphogenesis
KLHL3, WNK4
 GO:0072156 2 / 2 692× 2.01e-6 1.46e-4 ✓ sig.
sodium ion homeostasis
SCNN1B, SCNN1A, SCNN1G
 GO:0055078 3 / 20 104× 3.02e-6 2.01e-4 ✓ sig.
renal sodium ion absorption
CUL3, KLHL3, WNK4
 GO:0070294 3 / 21 98.9× 3.52e-6 2.28e-4 ✓ sig.
potassium ion homeostasis
SCNN1B, KLHL3, WNK1
 GO:0055075 3 / 21 98.9× 3.52e-6 2.28e-4 ✓ sig.
intracellular sodium ion homeostasis
SCNN1B, SCNN1A, SCNN1G
 GO:0006883 3 / 22 94.4× 4.07e-6 2.56e-4 ✓ sig.
sodium ion import across plasma membrane
SCNN1B, SCNN1A, SCNN1G
 GO:0098719 3 / 28 74.2× 8.60e-6 4.69e-4 ✓ sig.
negative regulation of sodium ion transport
WNK1, WNK4
 GO:0010766 2 / 5 277× 2.01e-5 9.06e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Bronchiectasis Pseudohypoparathyroidism 0.148 4 7.22e-10 6.63e-9 ✓ sig.
Liddle syndrome Pseudohypoparathyroidism 0.200 3 1.88e-9 1.65e-8 ✓ sig.
Bronchiectasis Liddle syndrome 0.158 3 4.47e-9 3.78e-8 ✓ sig.
Liddle syndrome pseudohypoaldosteronism, type IB1, autosomal recessive 0.200 1 2.60e-4 6.51e-4 ✓ sig.
pseudohypoaldosteronism type 2D Pseudohypoparathyroidism 0.071 1 8.44e-4 1.50e-3 ✓ sig.
pseudohypoaldosteronism type 2E Pseudohypoparathyroidism 0.071 1 8.44e-4 1.50e-3 ✓ sig.
pseudohypoaldosteronism, type IB1, autosomal recessive Pseudohypoparathyroidism 0.071 1 8.44e-4 1.50e-3 ✓ sig.
Bronchiectasis congenital disorder of glycosylation, type 2v 0.056 1 1.10e-3 1.83e-3 ✓ sig.
Bronchiectasis pseudohypoaldosteronism, type IB1, autosomal recessive 0.056 1 1.10e-3 1.83e-3 ✓ sig.