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 104

12 diseases · 39 shared-gene connections
12 Diseases
29 Unique genes
0.283 Avg. similarity score
Biventricular noncompaction cardiomyopathy Most-connected disease (11 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 ⇵
Biventricular noncompaction cardiomyopathy 11 11 1
MYH7-related skeletal myopathy 11 11 1
Myosin storage myopathy 11 11 1
dilated cardiomyopathy 1S 11 11 1
Asymmetric septal hypertrophy 5 5 4
Scapuloperoneal myopathy 5 5 2
Camptocormia 4 4 4
Coronary stenosis 4 4 16
Ebstein anomaly 4 4 2
Multiminicore myopathy 4 4 3
Parieto-occipital craniosynostosis 4 4 2
Polymorphic ventricular tachycardia 4 4 4

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

Gene ⇵ Member diseases ⇵ Linked diseases
MYH7 12 / 12 Asymmetric septal hypertrophy, Biventricular noncompaction cardiomyopathy, Camptocormia, Coronary stenosis and 8 more
FHL1 2 / 12 Asymmetric septal hypertrophy, Scapuloperoneal myopathy
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 ⇵
Hypertrophic cardiomyopathy
MYBPC3, MYH7, TTN, EDN1, SGCZ, RYR2
 KEGG 6 / 99 25.1× 1.10e-7 7.10e-6 ✓ sig.
Dilated cardiomyopathy
MYBPC3, MYH7, TTN, SGCZ, RYR2
 KEGG 5 / 105 19.7× 4.66e-6 1.80e-4 ✓ sig.
Cytoskeleton in muscle cells
FHL1, FLNC, MYBPC3, MYH7, TTN, SGCZ
 KEGG 6 / 232 10.7× 1.59e-5 4.96e-4 ✓ sig.
Role of phospholipids in phagocytosis
PLD1, PRKCE
 Reactome 2 / 21 39.4× 1.15e-3 1.51e-2 ✓ sig.
Cardiac muscle contraction
MYH7, CASQ2, RYR2
 KEGG 3 / 87 14.3× 1.17e-3 1.53e-2 ✓ sig.
cAMP signaling pathway
EDN1, NPPA, PLD1, RYR2
 KEGG 4 / 226 7.3× 2.00e-3 2.28e-2 ✓ sig.
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
CYP2R1
 Reactome 1 / 1 414× 2.41e-3 2.62e-2 ✓ sig.
Striated Muscle Contraction
MYBPC3, TTN
 Reactome 2 / 36 23.0× 3.37e-3 3.35e-2 ✓ sig.
Vascular smooth muscle contraction
EDN1, NPPA, PRKCE
 KEGG 3 / 134 9.3× 4.01e-3 3.78e-2 ✓ sig.
DAG and IP3 signaling
PRKCE
 Reactome 1 / 2 207× 4.82e-3 4.28e-2 ✓ sig.
Adrenergic signaling in cardiomyocytes
MYH7, KCNQ1, RYR2
 KEGG 3 / 154 8.1× 5.92e-3 4.89e-2 ✓ sig.
cGMP-PKG signaling pathway
MYH7, NPPA, PRKCE
 KEGG 3 / 166 7.5× 7.28e-3 5.61e-2
Ion homeostasis
CASQ2, RYR2
 Reactome 2 / 54 15.3× 7.45e-3 5.69e-2
Histamine receptors
HRH2
 Reactome 1 / 4 104× 9.62e-3 6.71e-2
NGF processing
PCSK6
 Reactome 1 / 4 104× 9.62e-3 6.71e-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 ⇵
cardiac muscle contraction
MYBPC3, MYH7, TTN, CASQ2, KCNQ1, RYR2
 GO:0060048 6 / 43 89.9× 4.71e-11 1.46e-8 ✓ sig.
striated muscle contraction
MYH7, TTN, CASQ2, RYR2
 GO:0006941 4 / 24 107× 4.86e-8 6.63e-6 ✓ sig.
positive regulation of heart rate
EDN1, NPPA, KCNQ1, RYR2
 GO:0010460 4 / 25 103× 5.78e-8 7.66e-6 ✓ sig.
regulation of heart rate
MYH7, CASQ2, KCNQ1, RYR2
 GO:0002027 4 / 39 66.1× 3.70e-7 3.63e-5 ✓ sig.
cellular response to caffeine
SELENON, CASQ2, RYR2
 GO:0071313 3 / 11 176× 5.50e-7 5.07e-5 ✓ sig.
Purkinje myocyte to ventricular cardiac muscle cell signaling
CASQ2, RYR2
 GO:0086029 2 / 2 644× 2.33e-6 1.62e-4 ✓ sig.
response to muscle stretch
EDN1, NPPA, RYR2
 GO:0035994 3 / 20 96.7× 3.76e-6 2.39e-4 ✓ sig.
glomerular endothelium development
EDN1, PECAM1
 GO:0072011 2 / 5 258× 2.32e-5 1.00e-3 ✓ sig.
regulation of atrial cardiac muscle cell membrane repolarization
NPPA, KCNQ1
 GO:0060372 2 / 6 215× 3.47e-5 1.37e-3 ✓ sig.
sarcomere organization
FLNC, MYBPC3, TTN
 GO:0045214 3 / 43 45.0× 3.98e-5 1.51e-3 ✓ sig.
positive regulation of cardiac muscle contraction
NPPA, KCNQ1
 GO:0060452 2 / 9 143× 8.32e-5 2.64e-3 ✓ sig.
gastric acid secretion
HRH2, KCNQ1
 GO:0001696 2 / 9 143× 8.32e-5 2.64e-3 ✓ sig.
mitochondrial DNA replication
POLG, RRM2B
 GO:0006264 2 / 11 117× 1.27e-4 3.61e-3 ✓ sig.
cellular response to epinephrine stimulus
KCNQ1, RYR2
 GO:0071872 2 / 12 107× 1.52e-4 4.14e-3 ✓ sig.
cardiac muscle hypertrophy
TTN, RYR2
 GO:0003300 2 / 13 99.1× 1.79e-4 4.68e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Asymmetric septal hypertrophy Scapuloperoneal myopathy 0.400 2 5.06e-8 3.92e-7 ✓ sig.
dilated cardiomyopathy 1S Myosin storage myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dilated cardiomyopathy 1S MYH7-related skeletal myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
MYH7-related skeletal myopathy Myosin storage myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy dilated cardiomyopathy 1S 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Myosin storage myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Myosin storage myopathy Scapuloperoneal myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Myosin storage myopathy Parieto-occipital craniosynostosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
MYH7-related skeletal myopathy Parieto-occipital craniosynostosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Scapuloperoneal myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Ebstein anomaly MYH7-related skeletal myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Ebstein anomaly Myosin storage myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
dilated cardiomyopathy 1S Parieto-occipital craniosynostosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
dilated cardiomyopathy 1S Ebstein anomaly 0.333 1 1.30e-4 3.90e-4 ✓ sig.
MYH7-related skeletal myopathy Scapuloperoneal myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
dilated cardiomyopathy 1S Scapuloperoneal myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Parieto-occipital craniosynostosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Ebstein anomaly 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Multiminicore myopathy Myosin storage myopathy 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Multiminicore myopathy 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Multiminicore myopathy MYH7-related skeletal myopathy 0.250 1 1.95e-4 5.28e-4 ✓ sig.
dilated cardiomyopathy 1S Multiminicore myopathy 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Camptocormia Myosin storage myopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Asymmetric septal hypertrophy Myosin storage myopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Asymmetric septal hypertrophy Biventricular noncompaction cardiomyopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Asymmetric septal hypertrophy MYH7-related skeletal myopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Asymmetric septal hypertrophy dilated cardiomyopathy 1S 0.200 1 2.60e-4 6.40e-4 ✓ sig.
dilated cardiomyopathy 1S Polymorphic ventricular tachycardia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
MYH7-related skeletal myopathy Polymorphic ventricular tachycardia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Polymorphic ventricular tachycardia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Myosin storage myopathy Polymorphic ventricular tachycardia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Biventricular noncompaction cardiomyopathy Camptocormia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Camptocormia MYH7-related skeletal myopathy 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Camptocormia dilated cardiomyopathy 1S 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Coronary stenosis dilated cardiomyopathy 1S 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Coronary stenosis Myosin storage myopathy 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Biventricular noncompaction cardiomyopathy Coronary stenosis 0.059 1 1.04e-3 1.72e-3 ✓ sig.
Coronary stenosis MYH7-related skeletal myopathy 0.059 1 1.04e-3 1.72e-3 ✓ sig.