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 208

8 diseases · 21 shared-gene connections
8 Diseases
11 Unique genes
0.289 Avg. similarity score
Craniometadiaphyseal dysplasia Most-connected disease (7 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 ⇵
Craniometadiaphyseal dysplasia 7 7 2
Craniometaphyseal dysplasia 7 7 3
Chondrocalcinosis 6 6 3
Autoinflammation, panniculitis, and dermatosis syndrome 5 5 1
Calcium metabolism disorders 5 5 8
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 5 5 1
Calcium pyrophosphate deposition 4 4 2
Schwartz-lelek syndrome 3 3 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
ANKH 6 / 8 Calcium metabolism disorders, Calcium pyrophosphate deposition, Chondrocalcinosis, Craniometadiaphyseal dysplasia and 2 more
OTULIN 6 / 8 Autoinflammation, panniculitis, and dermatosis syndrome, autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, Calcium metabolism disorders, Chondrocalcinosis and 2 more
GJA1 2 / 8 Craniometaphyseal dysplasia, Schwartz-lelek syndrome
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 ⇵
Cortisol synthesis and secretion
GNA11, POMC
 KEGG 2 / 65 33.6× 1.54e-3 1.88e-2 ✓ sig.
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
POMC
 Reactome 1 / 2 546× 1.83e-3 2.14e-2 ✓ sig.
Peptide hormone biosynthesis
POMC
 Reactome 1 / 2 546× 1.83e-3 2.14e-2 ✓ sig.
Regulation of gap junction activity
GJA1
 Reactome 1 / 3 364× 2.75e-3 2.89e-2 ✓ sig.
Opioid Signalling
POMC
 Reactome 1 / 3 364× 2.75e-3 2.89e-2 ✓ sig.
Gap junction
GNA11, GJA1
 KEGG 2 / 89 24.5× 2.86e-3 2.97e-2 ✓ sig.
Aldosterone synthesis and secretion
GNA11, POMC
 KEGG 2 / 98 22.3× 3.46e-3 3.40e-2 ✓ sig.
Parathyroid hormone synthesis, secretion and action
CASR, GNA11
 KEGG 2 / 115 19.0× 4.72e-3 4.22e-2 ✓ sig.
Nef Mediated CD8 Down-regulation
AP2S1
 Reactome 1 / 7 156× 6.40e-3 5.15e-2
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
GNA11
 Reactome 1 / 8 136× 7.31e-3 5.62e-2
Nef Mediated CD4 Down-regulation
AP2S1
 Reactome 1 / 9 121× 8.22e-3 6.07e-2
Acetylcholine regulates insulin secretion
GNA11
 Reactome 1 / 9 121× 8.22e-3 6.07e-2
Cushing syndrome
GNA11, POMC
 KEGG 2 / 155 14.1× 8.43e-3 6.18e-2
Glucocorticoid biosynthesis
POMC
 Reactome 1 / 10 109× 9.12e-3 6.50e-2
Retrograde neurotrophin signalling
AP2S1
 Reactome 1 / 11 99.3× 1.00e-2 6.86e-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 ⇵
skeletal system development
GNA11, ANKH, TNFRSF11B
 GO:0001501 3 / 151 33.8× 8.14e-5 2.59e-3 ✓ sig.
positive regulation of insulin secretion
CASR, GNA11
 GO:0032024 2 / 60 56.6× 5.47e-4 1.01e-2 ✓ sig.
microtubule-based transport
GJA1
 GO:0099111 1 / 1 1,699× 5.89e-4 1.07e-2 ✓ sig.
regulation of melanocyte differentiation
GNA11
 GO:0045634 1 / 1 1,699× 5.89e-4 1.07e-2 ✓ sig.
cellular pigmentation
POMC
 GO:0033059 1 / 1 1,699× 5.89e-4 1.07e-2 ✓ sig.
positive regulation of oxytocin production
POMC
 GO:0140668 1 / 1 1,699× 5.89e-4 1.07e-2 ✓ sig.
regulation of blood pressure
GNA11, POMC
 GO:0008217 2 / 83 40.9× 1.04e-3 1.55e-2 ✓ sig.
spontaneous synaptic transmission
CBLN2
 GO:0098814 1 / 2 849× 1.18e-3 1.66e-2 ✓ sig.
positive regulation of neutrophil mediated killing of fungus
POMC
 GO:0070965 1 / 2 849× 1.18e-3 1.66e-2 ✓ sig.
regulation of corticosterone secretion
POMC
 GO:2000852 1 / 2 849× 1.18e-3 1.66e-2 ✓ sig.
negative regulation of gonadotropin secretion
GJA1
 GO:0032277 1 / 2 849× 1.18e-3 1.66e-2 ✓ sig.
positive regulation of morphogenesis of an epithelium
GJA1
 GO:1905332 1 / 2 849× 1.18e-3 1.66e-2 ✓ sig.
negative regulation of odontogenesis of dentin-containing tooth
TNFRSF11B
 GO:0042489 1 / 2 849× 1.18e-3 1.66e-2 ✓ sig.
polysaccharide metabolic process
GALNT3
 GO:0005976 1 / 3 566× 1.76e-3 2.11e-2 ✓ sig.
response to melanocyte-stimulating hormone
POMC
 GO:1990680 1 / 3 566× 1.76e-3 2.11e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Craniometaphyseal dysplasia Schwartz-lelek syndrome 0.500 2 2.53e-8 2.03e-7 ✓ sig.
Craniometadiaphyseal dysplasia Craniometaphyseal dysplasia 0.500 2 2.53e-8 2.03e-7 ✓ sig.
Chondrocalcinosis Craniometadiaphyseal dysplasia 0.500 2 2.53e-8 2.03e-7 ✓ sig.
Chondrocalcinosis Craniometaphyseal dysplasia 0.400 2 7.59e-8 5.72e-7 ✓ sig.
Calcium metabolism disorders Craniometadiaphyseal dysplasia 0.222 2 2.36e-7 1.64e-6 ✓ sig.
Calcium metabolism disorders Craniometaphyseal dysplasia 0.200 2 7.08e-7 4.51e-6 ✓ sig.
Calcium metabolism disorders Chondrocalcinosis 0.200 2 7.08e-7 4.51e-6 ✓ sig.
Autoinflammation, panniculitis, and dermatosis syndrome autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Autoinflammation, panniculitis, and dermatosis syndrome Craniometadiaphyseal dysplasia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Craniometadiaphyseal dysplasia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Craniometaphyseal dysplasia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Chondrocalcinosis 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Autoinflammation, panniculitis, and dermatosis syndrome Craniometaphyseal dysplasia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Autoinflammation, panniculitis, and dermatosis syndrome Chondrocalcinosis 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Calcium pyrophosphate deposition Craniometadiaphyseal dysplasia 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Calcium pyrophosphate deposition Schwartz-lelek syndrome 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Craniometadiaphyseal dysplasia Schwartz-lelek syndrome 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Calcium pyrophosphate deposition Chondrocalcinosis 0.200 1 3.90e-4 8.52e-4 ✓ sig.
Calcium pyrophosphate deposition Craniometaphyseal dysplasia 0.200 1 3.90e-4 8.52e-4 ✓ sig.
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Calcium metabolism disorders 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Autoinflammation, panniculitis, and dermatosis syndrome Calcium metabolism disorders 0.111 1 5.20e-4 1.04e-3 ✓ sig.