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 352

7 diseases · 14 shared-gene connections
7 Diseases
26 Unique genes
0.264 Avg. similarity score
Hypo-akinesia disorder of prenatal onset Most-connected disease (5 links)
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Disease Searched: Multiple pterygium syndrome, escobar variant 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 ⇵
Hypo-akinesia disorder of prenatal onset 5 5 1
Multiple pterygium syndrome, escobar variant 5 5 1
Multiple pterygium syndrome, nonlethal type 5 5 1
Arthrogryposis 4 4 24
Escobar syndrome 4 4 2
Multiple pterygium syndrome, lethal type 4 4 3
Myasthenic syndrome, congenital, 1b, fast-channel 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
CHRNG 6 / 7 Arthrogryposis, Escobar syndrome, Hypo-akinesia disorder of prenatal onset, Multiple pterygium syndrome, escobar variant and 2 more
CHRNA1 2 / 7 Multiple pterygium syndrome, lethal type, Myasthenic syndrome, congenital, 1b, fast-channel
TPM2 2 / 7 Arthrogryposis, Escobar 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 ⇵
Striated Muscle Contraction
ACTC1, MYH3, TNNI1, TPM2, TTN
 Reactome 5 / 36 64.2× 1.14e-8 8.32e-7 ✓ sig.
Motor proteins
ACTC1, MYH3, MYO9A, TNNI1, TPM2, KIF21A, DYNC1H1
 KEGG 7 / 194 16.7× 1.31e-7 7.10e-6 ✓ sig.
Cytoskeleton in muscle cells
ACTC1, MYH3, TNNI1, TPM2, ATP1A2, FLNC, TTN
 KEGG 7 / 232 13.9× 4.41e-7 2.05e-5 ✓ sig.
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
CHRNG, CHRND
 Reactome 2 / 7 132× 9.40e-5 1.81e-3 ✓ sig.
Cardiac muscle contraction
ACTC1, TPM2, ATP1A2
 KEGG 3 / 87 15.9× 8.46e-4 9.97e-3 ✓ sig.
Hypertrophic cardiomyopathy
ACTC1, TPM2, TTN
 KEGG 3 / 99 14.0× 1.23e-3 1.33e-2 ✓ sig.
Dilated cardiomyopathy
ACTC1, TPM2, TTN
 KEGG 3 / 105 13.2× 1.46e-3 1.51e-2 ✓ sig.
Adrenergic signaling in cardiomyocytes
ACTC1, TPM2, ATP1A2
 KEGG 3 / 154 9.0× 4.33e-3 3.31e-2 ✓ sig.
ALKBH3 mediated reversal of alkylation damage
ASCC1
 Reactome 1 / 4 115× 8.63e-3 5.19e-2
Synaptic vesicle cycle
SLC6A9, SLC18A3
 KEGG 2 / 79 11.7× 1.25e-2 6.53e-2
Coenzyme A biosynthesis
COASY
 Reactome 1 / 8 57.7× 1.72e-2 7.86e-2
Prevention of phagosomal-lysosomal fusion
VPS33B
 Reactome 1 / 9 51.3× 1.93e-2 8.40e-2
Highly calcium permeable nicotinic acetylcholine receptors
CHRNA1
 Reactome 1 / 9 51.3× 1.93e-2 8.40e-2
Protein digestion and absorption
COL25A1, ATP1A2
 KEGG 2 / 103 9.0× 2.07e-2 8.77e-2
Type I hemidesmosome assembly
DST
 Reactome 1 / 11 42.0× 2.36e-2 9.42e-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 muscle contraction
CHRNG, MYH3, TNNI1, CHRNA1, TTN, CHRND
 GO:0003009 6 / 32 135× 3.45e-12 1.46e-9 ✓ sig.
membrane depolarization
CHRNG, CHRNA1, ATP1A2, CHRND
 GO:0051899 4 / 32 89.8× 1.03e-7 1.30e-5 ✓ sig.
muscle contraction
CHRNG, MYH3, TPM2, TTN, CHRND
 GO:0006936 5 / 85 42.3× 1.05e-7 1.33e-5 ✓ sig.
cardiac muscle contraction
ACTC1, TNNI1, ATP1A2, TTN
 GO:0060048 4 / 43 66.9× 3.50e-7 3.61e-5 ✓ sig.
synaptic transmission, cholinergic
CHRNG, CHRNA1, CHRND
 GO:0007271 3 / 25 86.2× 5.39e-6 3.36e-4 ✓ sig.
acetylcholine receptor signaling pathway
CHRNG, CHRNA1, CHRND
 GO:0095500 3 / 28 77.0× 7.65e-6 4.44e-4 ✓ sig.
skeletal muscle thin filament assembly
ACTC1, TTN
 GO:0030240 2 / 6 240× 2.78e-5 1.18e-3 ✓ sig.
skeletal muscle tissue growth
CHRNA1, CHRND
 GO:0048630 2 / 6 240× 2.78e-5 1.18e-3 ✓ sig.
musculoskeletal movement
CHRNA1, CHRND
 GO:0050881 2 / 6 240× 2.78e-5 1.18e-3 ✓ sig.
sarcomere organization
MYH3, FLNC, TTN
 GO:0045214 3 / 43 50.1× 2.84e-5 1.20e-3 ✓ sig.
regulation of striated muscle contraction
TNNI1, ATP1A2
 GO:0006942 2 / 8 180× 5.19e-5 1.90e-3 ✓ sig.
regulation of postsynaptic membrane potential
CHRNG, CHRNA1, CHRND
 GO:0060078 3 / 59 36.5× 7.38e-5 2.47e-3 ✓ sig.
neurotransmitter uptake
ATP1A2, SLC6A9
 GO:0001504 2 / 11 131× 1.02e-4 3.13e-3 ✓ sig.
neuronal action potential propagation
SCN1A, ATP1A2
 GO:0019227 2 / 11 131× 1.02e-4 3.13e-3 ✓ sig.
retrograde axonal transport
DST, DYNC1H1
 GO:0008090 2 / 11 131× 1.02e-4 3.13e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Arthrogryposis Escobar syndrome 0.080 2 2.30e-6 1.34e-5 ✓ sig.
Hypo-akinesia disorder of prenatal onset Multiple pterygium syndrome, escobar variant 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Hypo-akinesia disorder of prenatal onset Multiple pterygium syndrome, nonlethal type 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Multiple pterygium syndrome, escobar variant Multiple pterygium syndrome, nonlethal type 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Escobar syndrome Hypo-akinesia disorder of prenatal onset 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Escobar syndrome Multiple pterygium syndrome, escobar variant 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Escobar syndrome Multiple pterygium syndrome, nonlethal type 0.333 1 1.29e-4 3.27e-4 ✓ sig.
Hypo-akinesia disorder of prenatal onset Multiple pterygium syndrome, lethal type 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Multiple pterygium syndrome, escobar variant Multiple pterygium syndrome, lethal type 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Multiple pterygium syndrome, lethal type Multiple pterygium syndrome, nonlethal type 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Multiple pterygium syndrome, lethal type Myasthenic syndrome, congenital, 1b, fast-channel 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Arthrogryposis Hypo-akinesia disorder of prenatal onset 0.040 1 1.55e-3 2.19e-3 ✓ sig.
Arthrogryposis Multiple pterygium syndrome, escobar variant 0.040 1 1.55e-3 2.19e-3 ✓ sig.
Arthrogryposis Multiple pterygium syndrome, nonlethal type 0.040 1 1.55e-3 2.19e-3 ✓ sig.