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Cluster 172

9 diseases · 16 shared-gene connections
9 Diseases
22 Unique genes
0.209 Avg. similarity score
Congenital diarrhea Most-connected disease (5 links)
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Disease Searched: Congenital secretory diarrhea 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
GUCY2C 5 / 9 Chronic infantile diarrhea due to guanylate cyclase 2c overactivity, Congenital diarrhea, Congenital secretory diarrhea, Congenital sodium diarrhea and 1 more
SLC26A3 3 / 9 Congenital chloride diarrhea, Congenital secretory diarrhea, Intestinal obstruction
SLC9A3 3 / 9 Congenital secretory diarrhea, Congenital sodium diarrhea, Intestinal obstruction
DGAT1 2 / 9 Congenital chronic diarrhea with protein-losing enteropathy, Congenital diarrhea
GRWD1 2 / 9 Congenital chloride diarrhea, Congenital diarrhea
PLVAP 2 / 9 Congenital chronic diarrhea with protein-losing enteropathy, Congenital diarrhea
SLC26A9 2 / 9 Cystic fibrosis-related diabetes, Intestinal obstruction
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 ⇵
Multifunctional anion exchangers Reactome 2 / 9 121× 1.14e-4 2.43e-3 ✓ sig.
Mineral absorption KEGG 3 / 61 26.8× 1.79e-4 3.48e-3 ✓ sig.
Variant SLC6A14 may confer susceptibility towards obesity Reactome 1 / 1 546× 1.83e-3 2.14e-2 ✓ sig.
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) Reactome 1 / 1 546× 1.83e-3 2.14e-2 ✓ sig.
Intestinal infectious diseases Reactome 1 / 2 273× 3.66e-3 3.53e-2 ✓ sig.
Response of EIF2AK4 (GCN2) to amino acid deficiency Reactome 1 / 3 182× 5.49e-3 4.65e-2 ✓ sig.
Response of EIF2AK1 (HRI) to heme deficiency Reactome 1 / 3 182× 5.49e-3 4.65e-2 ✓ sig.
Signaling by MST1 Reactome 1 / 5 109× 9.13e-3 6.54e-2
GRB7 events in ERBB2 signaling Reactome 1 / 5 109× 9.13e-3 6.54e-2
Digestion Reactome 1 / 5 109× 9.13e-3 6.54e-2
MET Receptor Activation Reactome 1 / 6 91.0× 1.09e-2 7.34e-2
RAB GEFs exchange GTP for GDP on RABs Reactome 2 / 90 12.1× 1.16e-2 7.61e-2
Acyl chain remodeling of DAG and TAG Reactome 1 / 7 78.0× 1.28e-2 8.05e-2
Mitophagy - animal KEGG 2 / 105 10.4× 1.56e-2 9.10e-2
Sodium/Proton exchangers Reactome 1 / 9 60.7× 1.64e-2 9.37e-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 ⇵
oxalate transport GO:0019532 2 / 11 154× 7.23e-5 2.38e-3 ✓ sig.
sulfate transmembrane transport GO:1902358 2 / 16 106× 1.57e-4 4.26e-3 ✓ sig.
monoatomic anion transport GO:0006820 2 / 19 89.4× 2.24e-4 5.45e-3 ✓ sig.
positive regulation of gene expression GO:0010628 5 / 504 8.4× 2.52e-4 5.95e-3 ✓ sig.
regulation of membrane repolarization during atrial cardiac muscle cell action potential GO:1905000 1 / 1 849× 1.18e-3 1.67e-2 ✓ sig.
regulation of membrane repolarization during cardiac muscle cell action potential GO:1905031 1 / 1 849× 1.18e-3 1.67e-2 ✓ sig.
negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I GO:1904283 1 / 1 849× 1.18e-3 1.67e-2 ✓ sig.
positive regulation of cardiac muscle tissue development GO:0055025 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
regulation of iron ion transport GO:0034756 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
regulation of T cell mediated immunity GO:0002709 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
beta-alanine transport GO:0001762 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
vesicle localization GO:0051648 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
aromatic amino acid transport GO:0015801 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
granuloma formation GO:0002432 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.
pyrimidine nucleobase metabolic process GO:0006206 1 / 2 425× 2.35e-3 2.52e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital secretory diarrhea Congenital sodium diarrhea 0.400 2 5.06e-8 3.71e-7 ✓ sig.
Congenital chronic diarrhea with protein-losing enteropathy Congenital diarrhea 0.333 2 8.44e-8 5.94e-7 ✓ sig.
Congenital secretory diarrhea Intestinal obstruction 0.133 2 3.34e-6 1.79e-5 ✓ sig.
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Duodenal atresia 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Congenital sodium diarrhea 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Congenital sodium diarrhea Duodenal atresia 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Congenital secretory diarrhea 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Congenital secretory diarrhea Duodenal atresia 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Congenital diarrhea 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Congenital diarrhea Duodenal atresia 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Congenital diarrhea Congenital sodium diarrhea 0.143 1 6.49e-4 1.24e-3 ✓ sig.
Congenital chloride diarrhea Congenital secretory diarrhea 0.125 1 1.04e-3 1.74e-3 ✓ sig.
Congenital chloride diarrhea Congenital diarrhea 0.111 1 1.30e-3 2.06e-3 ✓ sig.
Congenital sodium diarrhea Intestinal obstruction 0.071 1 1.56e-3 2.38e-3 ✓ sig.
Cystic fibrosis-related diabetes Intestinal obstruction 0.067 1 2.34e-3 3.24e-3 ✓ sig.
Congenital chloride diarrhea Intestinal obstruction 0.063 1 3.11e-3 4.09e-3 ✓ sig.