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.

← Back to all clusters

Cluster 574

5 diseases · 7 shared-gene connections
5 Diseases
20 Unique genes
0.260 Avg. similarity score
Familial isolated hypoparathyroidism Most-connected disease (4 links)
Log in to save this analysis

Save This Analysis

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 ⇵
Familial isolated hypoparathyroidism 4 4 2
Hypoparathyroidism 3 3 3
Hypoparathyroidism, familial isolated, 2 3 3 1
Hyperparathyroidism 2 2 19
Hypoparathyroidism, familial isolated, 1 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
GCM2 4 / 5 Familial isolated hypoparathyroidism, Hyperparathyroidism, Hypoparathyroidism, Hypoparathyroidism, familial isolated, 2
PTH 4 / 5 Familial isolated hypoparathyroidism, Hyperparathyroidism, Hypoparathyroidism, Hypoparathyroidism, familial isolated, 1
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 ⇵
Parathyroid hormone synthesis, secretion and action
VDR, GCM2, PTH, CASR, MAFB, PTH1R
 KEGG 6 / 115 31.3× 2.35e-8 1.57e-6 ✓ sig.
PTK6 Regulates Cell Cycle
CCND1, CDKN1B
 Reactome 2 / 6 200× 3.94e-5 9.03e-4 ✓ sig.
Endocrine and other factor-regulated calcium reabsorption
VDR, PTH, PTH1R
 KEGG 3 / 53 34.0× 8.77e-5 1.71e-3 ✓ sig.
Class B/2 (Secretin family receptors)
PTH, PTH1R
 Reactome 2 / 18 66.7× 3.97e-4 5.59e-3 ✓ sig.
Rheumatoid arthritis
PTH, ACP5, IL6
 KEGG 3 / 95 19.0× 4.96e-4 6.64e-3 ✓ sig.
AGE-RAGE signaling pathway in diabetic complications
CCND1, CDKN1B, IL6
 KEGG 3 / 101 17.8× 5.93e-4 7.62e-3 ✓ sig.
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
CCND1, CDKN1B
 Reactome 2 / 23 52.2× 6.53e-4 8.20e-3 ✓ sig.
Post-translational protein phosphorylation
MEN1, APOL1, IL6
 Reactome 3 / 108 16.7× 7.21e-4 8.85e-3 ✓ sig.
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MEN1, APOL1, IL6
 Reactome 3 / 125 14.4× 1.10e-3 1.22e-2 ✓ sig.
ADORA2B mediated anti-inflammatory cytokines production
PTH, PTH1R, IL6
 Reactome 3 / 128 14.1× 1.18e-3 1.28e-2 ✓ sig.
FoxO signaling pathway
CCND1, CDKN1B, IL6
 KEGG 3 / 133 13.5× 1.32e-3 1.40e-2 ✓ sig.
Measles
CCND1, CDKN1B, IL6
 KEGG 3 / 139 13.0× 1.50e-3 1.54e-2 ✓ sig.
African trypanosomiasis
APOL1, IL6
 KEGG 2 / 37 32.5× 1.69e-3 1.69e-2 ✓ sig.
Transcriptional Regulation by VENTX
CCND1, IL6
 Reactome 2 / 38 31.6× 1.79e-3 1.75e-2 ✓ sig.
Cushing syndrome
MEN1, CCND1, CDKN1B
 KEGG 3 / 155 11.6× 2.05e-3 1.93e-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 ⇵
intracellular calcium ion homeostasis
VDR, GCM2, PTH, CASR, PTH1R
 GO:0006874 5 / 113 41.3× 1.07e-7 1.34e-5 ✓ sig.
bone resorption
PTH, PTH1R, ACP5
 GO:0045453 3 / 26 108× 2.68e-6 1.92e-4 ✓ sig.
negative regulation of cell population proliferation
VDR, CDC73, MEN1, PTH1R, CDKN1B, IL6
 GO:0008285 6 / 444 12.6× 5.08e-6 3.21e-4 ✓ sig.
adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway
PTH, CASR
 GO:0140582 2 / 5 374× 1.09e-5 5.80e-4 ✓ sig.
calcium ion homeostasis
PTH, TRPV6, ALPL
 GO:0055074 3 / 42 66.7× 1.17e-5 6.15e-4 ✓ sig.
skeletal system development
VDR, PTH, PTH1R, ALPL
 GO:0001501 4 / 151 24.8× 1.79e-5 8.54e-4 ✓ sig.
positive regulation of transcription by RNA polymerase II
VDR, CDC73, GCM2, MEN1, AIRE, PTH, MAFB, IL6
 GO:0045944 8 / 1,208 6.2× 1.86e-5 8.75e-4 ✓ sig.
positive regulation of inositol phosphate biosynthetic process
PTH, PTH1R
 GO:0060732 2 / 7 267× 2.28e-5 1.02e-3 ✓ sig.
response to glucocorticoid
CCND1, ALPL, IL6
 GO:0051384 3 / 53 52.9× 2.37e-5 1.05e-3 ✓ sig.
response to calcium ion
CASR, CCND1, TRPV6
 GO:0051592 3 / 55 51.0× 2.65e-5 1.14e-3 ✓ sig.
bone mineralization
PTH, PTH1R, ALPL
 GO:0030282 3 / 56 50.1× 2.80e-5 1.19e-3 ✓ sig.
regulation of G1/S transition of mitotic cell cycle
CCND1, TMEM14B, CDKN1B
 GO:2000045 3 / 57 49.2× 2.96e-5 1.24e-3 ✓ sig.
negative regulation of cyclin-dependent protein serine/threonine kinase activity
MEN1, CDKN1B
 GO:0045736 2 / 9 208× 3.90e-5 1.53e-3 ✓ sig.
response to fibroblast growth factor
PTH, CASR
 GO:0071774 2 / 11 170× 5.95e-5 2.10e-3 ✓ sig.
negative regulation of lipid storage
CRP, IL6
 GO:0010888 2 / 12 156× 7.14e-5 2.40e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Familial isolated hypoparathyroidism Hypoparathyroidism 0.500 2 2.50e-8 1.87e-7 ✓ sig.
Familial isolated hypoparathyroidism Hyperparathyroidism 0.100 2 1.43e-6 8.51e-6 ✓ sig.
Familial isolated hypoparathyroidism Hypoparathyroidism, familial isolated, 1 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Familial isolated hypoparathyroidism Hypoparathyroidism, familial isolated, 2 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hypoparathyroidism Hypoparathyroidism, familial isolated, 1 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Hypoparathyroidism Hypoparathyroidism, familial isolated, 2 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Hyperparathyroidism Hypoparathyroidism, familial isolated, 2 0.050 1 1.23e-3 1.81e-3 ✓ sig.