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 221

8 diseases · 25 shared-gene connections
8 Diseases
2 Unique genes
0.467 Avg. similarity score
Early-onset myopathy with fatal cardiomyopathy Most-connected disease (7 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 ⇵
Early-onset myopathy with fatal cardiomyopathy 7 7 1
Progressive contractures limb-girdle weakness muscle dystrophy syndrome 7 7 1
dilated cardiomyopathy 1G 7 7 1
myopathy, myofibrillar, 9, with early respiratory failure 7 7 1
tibial muscular dystrophy 7 7 1
Feingold syndrome 5 5 2
TTN-related myopathy 5 5 1
TTN-related myopathy, dominant-negative TTNsv 5 5 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
TTN 8 / 8 dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Feingold syndrome, myopathy, myofibrillar, 9, with early respiratory failure and 4 more
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 ⇵
Striated Muscle Contraction
TTN
 Reactome 1 / 36 167× 5.99e-3 4.93e-2 ✓ sig.
Hypertrophic cardiomyopathy
TTN
 KEGG 1 / 99 60.7× 1.64e-2 9.18e-2
Dilated cardiomyopathy
TTN
 KEGG 1 / 105 57.2× 1.74e-2 9.52e-2
Platelet degranulation
TTN
 Reactome 1 / 123 48.8× 2.04e-2 1.04e-1
Transcriptional misregulation in cancer
MYCN
 KEGG 1 / 198 30.3× 3.27e-2 1.35e-1
Cytoskeleton in muscle cells
TTN
 KEGG 1 / 232 25.9× 3.83e-2 1.48e-1

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 muscle myosin thick filament assembly
TTN
 GO:0030241 1 / 3 3,115× 3.21e-4 7.03e-3 ✓ sig.
sarcomerogenesis
TTN
 GO:0048769 1 / 3 3,115× 3.21e-4 7.03e-3 ✓ sig.
regulation of inner ear auditory receptor cell differentiation
MYCN
 GO:0045607 1 / 4 2,336× 4.28e-4 8.59e-3 ✓ sig.
skeletal muscle thin filament assembly
TTN
 GO:0030240 1 / 6 1,557× 6.42e-4 1.13e-2 ✓ sig.
autosome genomic imprinting
MYCN
 GO:0141068 1 / 6 1,557× 6.42e-4 1.13e-2 ✓ sig.
positive regulation of gene expression
TTN, MYCN
 GO:0010628 2 / 504 37.1× 7.26e-4 1.23e-2 ✓ sig.
detection of muscle stretch
TTN
 GO:0035995 1 / 7 1,335× 7.49e-4 1.25e-2 ✓ sig.
negative regulation of astrocyte differentiation
MYCN
 GO:0048712 1 / 11 849× 1.18e-3 1.66e-2 ✓ sig.
protein kinase A signaling
TTN
 GO:0010737 1 / 12 779× 1.28e-3 1.75e-2 ✓ sig.
cardiac muscle tissue morphogenesis
TTN
 GO:0055008 1 / 13 719× 1.39e-3 1.84e-2 ✓ sig.
cardiac myofibril assembly
TTN
 GO:0055003 1 / 13 719× 1.39e-3 1.84e-2 ✓ sig.
cardiac muscle hypertrophy
TTN
 GO:0003300 1 / 13 719× 1.39e-3 1.84e-2 ✓ sig.
muscle filament sliding
TTN
 GO:0030049 1 / 15 623× 1.60e-3 1.98e-2 ✓ sig.
positive regulation of programmed cell death
MYCN
 GO:0043068 1 / 17 550× 1.82e-3 2.15e-2 ✓ sig.
mitotic chromosome condensation
TTN
 GO:0007076 1 / 17 550× 1.82e-3 2.15e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dilated cardiomyopathy 1G TTN-related myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
tibial muscular dystrophy TTN-related myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
myopathy, myofibrillar, 9, with early respiratory failure TTN-related myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Early-onset myopathy with fatal cardiomyopathy TTN-related myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Progressive contractures limb-girdle weakness muscle dystrophy syndrome TTN-related myopathy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
tibial muscular dystrophy TTN-related myopathy, dominant-negative TTNsv 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Progressive contractures limb-girdle weakness muscle dystrophy syndrome TTN-related myopathy, dominant-negative TTNsv 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Progressive contractures limb-girdle weakness muscle dystrophy syndrome tibial muscular dystrophy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
myopathy, myofibrillar, 9, with early respiratory failure TTN-related myopathy, dominant-negative TTNsv 0.500 1 6.49e-5 2.34e-4 ✓ sig.
myopathy, myofibrillar, 9, with early respiratory failure tibial muscular dystrophy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
myopathy, myofibrillar, 9, with early respiratory failure Progressive contractures limb-girdle weakness muscle dystrophy syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Early-onset myopathy with fatal cardiomyopathy TTN-related myopathy, dominant-negative TTNsv 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Early-onset myopathy with fatal cardiomyopathy tibial muscular dystrophy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Early-onset myopathy with fatal cardiomyopathy myopathy, myofibrillar, 9, with early respiratory failure 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Early-onset myopathy with fatal cardiomyopathy Progressive contractures limb-girdle weakness muscle dystrophy syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dilated cardiomyopathy 1G TTN-related myopathy, dominant-negative TTNsv 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dilated cardiomyopathy 1G tibial muscular dystrophy 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dilated cardiomyopathy 1G myopathy, myofibrillar, 9, with early respiratory failure 0.500 1 6.49e-5 2.34e-4 ✓ sig.
dilated cardiomyopathy 1G Progressive contractures limb-girdle weakness muscle dystrophy syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Feingold syndrome tibial muscular dystrophy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
dilated cardiomyopathy 1G Feingold syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Feingold syndrome myopathy, myofibrillar, 9, with early respiratory failure 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Early-onset myopathy with fatal cardiomyopathy Feingold syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Feingold syndrome Progressive contractures limb-girdle weakness muscle dystrophy syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.