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 210

8 diseases · 16 shared-gene connections
8 Diseases
60 Unique genes
0.279 Avg. similarity score
Hereditary chronic pancreatitis 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 ⇵
Hereditary chronic pancreatitis 5 5 8
autosomal dominant hypocalcemia 1 5 5 1
familial hypocalciuric hypercalcemia 1 5 5 1
neonatal severe primary hyperparathyroidism 5 5 1
Benign hypercalcemia 4 4 2
Hypocalciuric hypercalcemia 4 4 3
Pancreatitis 2 2 57
Tropical calcific pancreatitis 2 2 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
CASR 6 / 8 autosomal dominant hypocalcemia 1, Benign hypercalcemia, familial hypocalciuric hypercalcemia 1, Hereditary chronic pancreatitis and 2 more
CTRC 3 / 8 Hereditary chronic pancreatitis, Pancreatitis, Tropical calcific pancreatitis
SPINK1 3 / 8 Hereditary chronic pancreatitis, Pancreatitis, Tropical calcific pancreatitis
AP2S1 2 / 8 Benign hypercalcemia, Hypocalciuric hypercalcemia
CFTR 2 / 8 Hereditary chronic pancreatitis, Pancreatitis
CPA1 2 / 8 Hereditary chronic pancreatitis, Pancreatitis
PRSS1 2 / 8 Hereditary chronic pancreatitis, Pancreatitis
PRSS2 2 / 8 Hereditary chronic pancreatitis, Pancreatitis
TRPV6 2 / 8 Hereditary chronic pancreatitis, Pancreatitis
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 ⇵
Pancreatic secretion
CPA1, PRSS1, PRSS2, CFTR, CCK, CA2, CEL
 KEGG 7 / 102 13.7× 6.92e-7 3.53e-5 ✓ sig.
Bile secretion
CFTR, ABCB4, ABCG5, ABCG8, CA2, UGT1A7
 KEGG 6 / 90 13.3× 5.41e-6 2.02e-4 ✓ sig.
Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
ABCG5, ABCG8
 Reactome 2 / 2 200× 2.45e-5 7.07e-4 ✓ sig.
Defective ABCG5 causes sitosterolemia
ABCG5, ABCG8
 Reactome 2 / 2 200× 2.45e-5 7.07e-4 ✓ sig.
ABC transporters
CFTR, ABCB4, ABCG5, ABCG8
 KEGG 4 / 45 17.8× 7.20e-5 1.71e-3 ✓ sig.
Neuroactive ligand-receptor interaction
PRSS1, PRSS2, ADRB2, CCK, CNR1, CNR2, HTR4, SST, TRPV1
 KEGG 9 / 370 4.9× 8.36e-5 1.94e-3 ✓ sig.
Interleukin-10 signaling
CCL2, CCL5, PTGS2, IL1RN
 Reactome 4 / 47 17.0× 8.55e-5 1.97e-3 ✓ sig.
Influenza A
PRSS1, PRSS2, CCL2, CCL5, HLA-DQA1, HLA-DRB1
 KEGG 6 / 173 6.9× 2.15e-4 4.14e-3 ✓ sig.
Hormone signaling
GNA11, ADRB2, CCK, INS, SST, PTHLH
 KEGG 6 / 219 5.5× 7.56e-4 1.10e-2 ✓ sig.
Fat digestion and absorption
ABCG5, ABCG8, CEL
 KEGG 3 / 43 14.0× 1.27e-3 1.62e-2 ✓ sig.
Rheumatoid arthritis
CCL2, CCL5, HLA-DQA1, HLA-DRB1
 KEGG 4 / 95 8.4× 1.28e-3 1.63e-2 ✓ sig.
Type I diabetes mellitus
HLA-DQA1, HLA-DRB1, INS
 KEGG 3 / 44 13.6× 1.36e-3 1.71e-2 ✓ sig.
Cholesterol metabolism
ABCG5, ABCG8, LPL
 KEGG 3 / 51 11.8× 2.08e-3 2.35e-2 ✓ sig.
Regulation of lipolysis in adipocytes
ADRB2, INS, PTGS2
 KEGG 3 / 59 10.2× 3.16e-3 3.20e-2 ✓ sig.
Platelet degranulation
ALB, HGF, SERPINA1, SERPING1
 Reactome 4 / 123 6.5× 3.28e-3 3.28e-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 ⇵
digestion
PRSS1, PRSS2, CCK, SST
 GO:0007586 4 / 26 47.9× 1.36e-6 1.06e-4 ✓ sig.
intestinal cholesterol absorption
ABCG5, ABCG8, CEL
 GO:0030299 3 / 11 84.9× 5.10e-6 3.06e-4 ✓ sig.
negative regulation of intestinal phytosterol absorption
ABCG5, ABCG8
 GO:0010949 2 / 2 311× 1.01e-5 5.27e-4 ✓ sig.
negative regulation of intestinal cholesterol absorption
ABCG5, ABCG8
 GO:0045796 2 / 2 311× 1.01e-5 5.27e-4 ✓ sig.
adenylate cyclase-activating G protein-coupled receptor signaling pathway
CASR, ADRB2, CNR1, CNR2, HTR4, PTHLH
 GO:0007189 6 / 161 11.6× 1.27e-5 6.29e-4 ✓ sig.
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
CCL2, CNR1, CNR2, HTR4
 GO:0007187 4 / 54 23.1× 2.69e-5 1.13e-3 ✓ sig.
cannabinoid signaling pathway
CNR1, CNR2
 GO:0038171 2 / 3 208× 3.04e-5 1.23e-3 ✓ sig.
negative regulation of synaptic transmission, GABAergic
CNR2, STXBP1
 GO:0032229 2 / 4 156× 6.06e-5 2.07e-3 ✓ sig.
adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway
CASR, PTHLH
 GO:0140582 2 / 5 125× 1.01e-4 3.04e-3 ✓ sig.
chemosensory behavior
CASR, TRPV1
 GO:0007635 2 / 6 104× 1.51e-4 4.11e-3 ✓ sig.
bile acid secretion
CASR, ABCB4
 GO:0032782 2 / 6 104× 1.51e-4 4.11e-3 ✓ sig.
acute-phase response
INS, SERPINA1, IL1RN
 GO:0006953 3 / 37 25.3× 2.26e-4 5.50e-3 ✓ sig.
triglyceride homeostasis
ABCG5, ABCG8, LPL
 GO:0070328 3 / 38 24.6× 2.45e-4 5.83e-3 ✓ sig.
positive regulation of T cell activation
CCL2, HLA-DQA1, HLA-DRB1
 GO:0050870 3 / 45 20.8× 4.06e-4 8.30e-3 ✓ sig.
epidermis development
HLA-DRB1, PPP3CA, PTCH1, PTHLH
 GO:0008544 4 / 114 10.9× 4.92e-4 9.45e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Hereditary chronic pancreatitis Pancreatitis 0.119 7 5.19e-17 8.94e-16 ✓ sig.
Benign hypercalcemia Hypocalciuric hypercalcemia 0.500 2 2.53e-8 2.03e-7 ✓ sig.
Hereditary chronic pancreatitis Tropical calcific pancreatitis 0.222 2 2.36e-7 1.64e-6 ✓ sig.
Pancreatitis Tropical calcific pancreatitis 0.034 2 1.35e-5 6.92e-5 ✓ sig.
autosomal dominant hypocalcemia 1 neonatal severe primary hyperparathyroidism 0.500 1 6.49e-5 2.34e-4 ✓ sig.
autosomal dominant hypocalcemia 1 familial hypocalciuric hypercalcemia 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
familial hypocalciuric hypercalcemia 1 neonatal severe primary hyperparathyroidism 0.500 1 6.49e-5 2.34e-4 ✓ sig.
autosomal dominant hypocalcemia 1 Benign hypercalcemia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Benign hypercalcemia neonatal severe primary hyperparathyroidism 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Benign hypercalcemia familial hypocalciuric hypercalcemia 1 0.333 1 1.30e-4 3.90e-4 ✓ sig.
autosomal dominant hypocalcemia 1 Hypocalciuric hypercalcemia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
familial hypocalciuric hypercalcemia 1 Hypocalciuric hypercalcemia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Hypocalciuric hypercalcemia neonatal severe primary hyperparathyroidism 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Hereditary chronic pancreatitis neonatal severe primary hyperparathyroidism 0.111 1 5.20e-4 1.04e-3 ✓ sig.
familial hypocalciuric hypercalcemia 1 Hereditary chronic pancreatitis 0.111 1 5.20e-4 1.04e-3 ✓ sig.
autosomal dominant hypocalcemia 1 Hereditary chronic pancreatitis 0.111 1 5.20e-4 1.04e-3 ✓ sig.