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 377

5 diseases · 6 shared-gene connections
5 Diseases
65 Unique genes
0.156 Avg. similarity score
Centronuclear myopathy 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 ⇵
Centronuclear myopathy 4 4 22
Congenital fiber type disproportion myopathy 3 3 11
Congenital myopathy 2 2 45
Congenital structural myopathy 2 2 12
myopathy, centronuclear, 5 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
RYR1 4 / 5 Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital myopathy, Congenital structural myopathy
TPM3 4 / 5 Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital myopathy, Congenital structural myopathy
ACTA1 3 / 5 Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital myopathy
CCDC78 3 / 5 Centronuclear myopathy, Congenital myopathy, Congenital structural myopathy
MTM1 3 / 5 Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital structural myopathy
BIN1 2 / 5 Centronuclear myopathy, Congenital structural myopathy
CACNA1S 2 / 5 Centronuclear myopathy, Congenital myopathy
CHRNA1 2 / 5 Centronuclear myopathy, Congenital myopathy
DNM2 2 / 5 Centronuclear myopathy, Congenital structural myopathy
HACD1 2 / 5 Congenital fiber type disproportion myopathy, Congenital myopathy
ITGA7 2 / 5 Congenital fiber type disproportion myopathy, Congenital myopathy
MAP3K20 2 / 5 Centronuclear myopathy, Congenital fiber type disproportion myopathy
MTMR14 2 / 5 Centronuclear myopathy, Congenital structural myopathy
MYF6 2 / 5 Centronuclear myopathy, Congenital structural myopathy
MYH7 2 / 5 Congenital fiber type disproportion myopathy, Congenital myopathy
SELENON 2 / 5 Congenital fiber type disproportion myopathy, Congenital myopathy
SPEG 2 / 5 Centronuclear myopathy, myopathy, centronuclear, 5
TPM2 2 / 5 Congenital fiber type disproportion myopathy, Congenital myopathy
TTN 2 / 5 Centronuclear myopathy, Congenital 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 ⇵
Cytoskeleton in muscle cells
TTN, ACTA1, FHL1, TPM3, ITGA7, MYH7, MYL2, TPM2, COL6A6, MYL1, TNNT3, LMNA
 KEGG 19 / 232 15.1× 7.25e-18 4.05e-15 ✓ sig.
Striated Muscle Contraction
TTN, ACTA1, TPM3, MYL2, TPM2, MYL1, TNNT3, TNNC2, MYBPC1, ACTN2, NEB
 Reactome 11 / 36 56.5× 2.59e-17 1.29e-14 ✓ sig.
Motor proteins
ACTA1, TPM3, MYH7, MYL2, TPM2, MYL1, TNNT3, MYO15B, TNNC2, TUBA4A, MYH2
 KEGG 11 / 194 10.5× 6.16e-9 5.73e-7 ✓ sig.
Hypertrophic cardiomyopathy
TTN, CACNA1S, TPM3, ITGA7, MYH7, MYL2, TPM2, LMNA
 KEGG 8 / 99 14.9× 5.49e-8 3.88e-6 ✓ sig.
Dilated cardiomyopathy
TTN, CACNA1S, TPM3, ITGA7, MYH7, MYL2, TPM2, LMNA
 KEGG 8 / 105 14.1× 8.71e-8 5.82e-6 ✓ sig.
Cardiac muscle contraction
CACNA1S, TPM3, MYH7, MYL2, TPM2
 KEGG 5 / 87 10.6× 1.04e-4 2.33e-3 ✓ sig.
ALKBH3 mediated reversal of alkylation damage
ASCC1, ASCC3
 Reactome 2 / 4 92.4× 1.72e-4 3.47e-3 ✓ sig.
Smooth Muscle Contraction
TPM3, TPM2, DYSF
 Reactome 3 / 34 16.3× 8.03e-4 1.15e-2 ✓ sig.
Arrhythmogenic right ventricular cardiomyopathy
CACNA1S, ITGA7, LMNA, ACTN2
 KEGG 4 / 86 8.6× 1.19e-3 1.54e-2 ✓ sig.
Adrenergic signaling in cardiomyocytes
CACNA1S, TPM3, MYH7, MYL2, TPM2
 KEGG 5 / 154 6.0× 1.44e-3 1.79e-2 ✓ sig.
Calcium signaling pathway
RYR1, CACNA1S, RYR3, TNNC2, ORAI1, STIM1
 KEGG 6 / 254 4.4× 2.45e-3 2.66e-2 ✓ sig.
Biosynthesis of various nucleotide sugars
CYB5R3, GNE
 KEGG 2 / 15 24.6× 2.89e-3 3.00e-2 ✓ sig.
Ion homeostasis
RYR1, RYR3, STIM1
 Reactome 3 / 54 10.3× 3.08e-3 3.13e-2 ✓ sig.
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
GNE
 Reactome 1 / 1 185× 5.41e-3 4.61e-2 ✓ sig.
Mannose type O-glycan biosynthesis
FKRP, LARGE1
 KEGG 2 / 23 16.1× 6.78e-3 5.35e-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 ⇵
muscle organ development
MYF6, SPEG, FHL1, ITGA7, FXR1, CHKB, JPH1, LARGE1, LMNA, SRPK3, MEGF10, MYOD1
 GO:0007517 14 / 114 35.3× 2.04e-18 2.61e-15 ✓ sig.
muscle contraction
RYR1, TTN, ACTA1, CACNA1S, CHRND, TPM3, MYH7, TPM2, MYL1, SCN4A, FKRP, MYH2
 GO:0006936 12 / 85 40.6× 1.16e-16 1.08e-13 ✓ sig.
skeletal muscle contraction
TTN, CCDC78, CHRNA1, CHRND, MYH7, TNNT3, STAC3, TNNC2
 GO:0003009 8 / 32 71.9× 1.35e-13 7.26e-11 ✓ sig.
striated muscle contraction
RYR1, TTN, CACNA1S, MYH7, RYR3, TNNT3, LARGE1
 GO:0006941 7 / 24 83.9× 1.46e-12 6.47e-10 ✓ sig.
skeletal muscle fiber development
RYR1, ACTA1, CACNA1S, SELENON, LARGE1, STAC3, MYOD1
 GO:0048741 7 / 31 64.9× 1.09e-11 3.98e-9 ✓ sig.
skeletal muscle tissue development
MYF6, CACNA1S, CFL2, SELENON, FKRP, SRPK3, MYOD1, PAX7
 GO:0007519 8 / 68 33.8× 8.61e-11 2.50e-8 ✓ sig.
sarcomere organization
TTN, CFL2, TNNT3, MYPN, MYBPC1, ACTN2, ANKRD1
 GO:0045214 7 / 43 46.8× 1.29e-10 3.63e-8 ✓ sig.
skeletal muscle tissue regeneration
MYF6, SELENON, FKRP, LARGE1, MYOD1, PAX7
 GO:0043403 6 / 26 66.3× 3.05e-10 7.77e-8 ✓ sig.
cellular response to caffeine
RYR1, CACNA1S, SELENON, RYR3
 GO:0071313 4 / 11 105× 4.32e-8 5.98e-6 ✓ sig.
muscle filament sliding
TTN, MYH7, MYL1, MYH2
 GO:0030049 4 / 15 76.7× 1.77e-7 1.95e-5 ✓ sig.
skeletal muscle tissue growth
CHRNA1, CHRND, MTM1
 GO:0048630 3 / 6 144× 7.97e-7 6.90e-5 ✓ sig.
muscle cell development
CACNA1S, MYL2, MEGF10, ACTN2
 GO:0055001 4 / 23 50.0× 1.12e-6 9.10e-5 ✓ sig.
muscle cell cellular homeostasis
CFL2, CHRNA1, MTM1, LARGE1
 GO:0046716 4 / 26 44.2× 1.88e-6 1.37e-4 ✓ sig.
skeletal muscle satellite cell differentiation
SELENON, MEGF10, PAX7
 GO:0014816 3 / 9 95.8× 3.32e-6 2.17e-4 ✓ sig.
skeletal muscle organ development
FXR1, FKRP, LARGE1
 GO:0060538 3 / 11 78.4× 6.50e-6 3.69e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Centronuclear myopathy Congenital structural myopathy 0.296 8 2.02e-21 4.30e-20 ✓ sig.
Congenital fiber type disproportion myopathy Congenital myopathy 0.163 8 4.52e-19 8.61e-18 ✓ sig.
Centronuclear myopathy Congenital myopathy 0.115 7 1.84e-13 2.50e-12 ✓ sig.
Centronuclear myopathy Congenital fiber type disproportion myopathy 0.172 5 1.68e-12 2.07e-11 ✓ sig.
Congenital fiber type disproportion myopathy Congenital structural myopathy 0.143 3 5.95e-8 4.57e-7 ✓ sig.
Centronuclear myopathy myopathy, centronuclear, 5 0.043 1 1.43e-3 2.21e-3 ✓ sig.