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Cluster 14

24 diseases · 67 shared-gene connections
24 Diseases
175 Unique genes
0.119 Avg. similarity score
Walker-warburg syndrome Most-connected disease (17 links)
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Disease Searched: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
CRPPA 9 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Eye abnormalities, Limb girdle muscular dystrophy and 5 more
FKRP 8 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Limb girdle muscular dystrophy, Muscle eye brain disease and 4 more
GMPPB 7 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Limb girdle muscular dystrophy, Muscle eye brain disease and 3 more
POMGNT1 7 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Limb girdle muscular dystrophy, Muscle eye brain disease and 3 more
CAPN3 6 / 24 autosomal recessive limb-girdle muscular dystrophy, Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy and 2 more
DAG1 6 / 24 Limb girdle muscular dystrophy, Muscle eye brain disease, Muscular dystrophy, Myopathy and 2 more
FKTN 6 / 24 Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscle eye brain disease, Muscular dystrophy and 2 more
LARGE1 6 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Muscular dystrophy and 2 more
POMT1 6 / 24 Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscle eye brain disease, Muscular dystrophy and 2 more
POMT2 6 / 24 Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscle eye brain disease, Muscular dystrophy and 2 more
DYSF 5 / 24 autosomal recessive limb-girdle muscular dystrophy, Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy and 1 more
ANO5 4 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
HMGCR 4 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
LAMA2 4 / 24 Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
POMK 4 / 24 Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscle eye brain disease, Walker-warburg syndrome
SGCA 4 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Sarcoglycanopathies
SGCG 4 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Sarcoglycanopathies
TRAPPC11 4 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
TRIM32 4 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
B3GALNT2 3 / 24 Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Walker-warburg syndrome
B4GAT1 3 / 24 Muscle eye brain disease, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Walker-warburg syndrome
COL6A2 3 / 24 Congenital muscular dystrophy, Muscular dystrophy, Myopathy
DNAJB6 3 / 24 Limb girdle muscular dystrophy, Muscular dystrophy, muscular dystrophy, limb-girdle, autosomal dominant
HNRNPDL 3 / 24 Limb girdle muscular dystrophy, Muscular dystrophy, muscular dystrophy, limb-girdle, autosomal dominant
JAG2 3 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy
LMNA 3 / 24 Congenital muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy
PLEC 3 / 24 Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
POMGNT2 3 / 24 Muscle eye brain disease, myopathy caused by variation in POMGNT2, Walker-warburg syndrome
POPDC3 3 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy
SGCB 3 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy
SGCD 3 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy
TCAP 3 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy, Muscular dystrophy
TNPO3 3 / 24 Limb girdle muscular dystrophy, Muscular dystrophy, muscular dystrophy, limb-girdle, autosomal dominant
TOR1AIP1 3 / 24 Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
TSPAN1 3 / 24 Congenital muscular dystrophy due to dystroglycanopathy, Limb girdle muscular dystrophy, Muscle eye brain disease
TTN 3 / 24 Limb girdle muscular dystrophy, Muscular dystrophy, Myopathy
ASTN2 2 / 24 Limb girdle muscular dystrophy, Myopathy
CAV3 2 / 24 Limb girdle muscular dystrophy, Muscular dystrophy
COL4A1 2 / 24 Eye abnormalities, Walker-warburg syndrome
COL6A1 2 / 24 Muscular dystrophy, Myopathy
COL6A3 2 / 24 Muscular dystrophy, Myopathy
DMD 2 / 24 Muscular dystrophy, Myopathy
GAA 2 / 24 Muscular dystrophy, Myopathy
HINT1 2 / 24 Axonal neuropathy with neuromyotonia, Myopathy
ITGA7 2 / 24 Congenital muscular dystrophy, Myopathy
MYH2 2 / 24 Muscular dystrophy, Myopathy
NEB 2 / 24 Congenital muscular dystrophy, Muscular dystrophy
POGLUT1 2 / 24 autosomal recessive limb-girdle muscular dystrophy, Limb girdle muscular dystrophy
RIF1 2 / 24 Congenital muscular dystrophy, Muscular dystrophy
RXYLT1 2 / 24 Muscle eye brain disease, Walker-warburg syndrome
RYR1 2 / 24 Congenital muscular dystrophy, Myopathy
SH3PXD2B 2 / 24 Eye abnormalities, frank-ter haar syndrome
SMCHD1 2 / 24 Muscular dystrophy, 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 KEGG 32 / 232 9.5× 1.66e-22 1.88e-19 ✓ sig.
Mannose type O-glycan biosynthesis KEGG 12 / 23 35.8× 7.37e-17 3.29e-14 ✓ sig.
O-linked glycosylation Reactome 9 / 10 61.8× 2.38e-16 9.73e-14 ✓ sig.
Dilated cardiomyopathy KEGG 18 / 105 11.8× 9.70e-15 2.96e-12 ✓ sig.
Hypertrophic cardiomyopathy KEGG 17 / 99 11.8× 5.38e-14 1.42e-11 ✓ sig.
Striated Muscle Contraction Reactome 9 / 36 17.2× 1.62e-9 1.79e-7 ✓ sig.
Arrhythmogenic right ventricular cardiomyopathy KEGG 12 / 86 9.6× 3.76e-9 3.89e-7 ✓ sig.
Viral myocarditis KEGG 9 / 70 8.8× 7.31e-7 3.97e-5 ✓ sig.
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Reactome 3 / 3 68.6× 3.04e-6 1.36e-4 ✓ sig.
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 Reactome 3 / 3 68.6× 3.04e-6 1.36e-4 ✓ sig.
ECM-receptor interaction KEGG 9 / 89 6.9× 5.64e-6 2.23e-4 ✓ sig.
Assembly of collagen fibrils and other multimeric structures Reactome 7 / 51 9.4× 8.34e-6 3.07e-4 ✓ sig.
NCAM1 interactions Reactome 5 / 21 16.3× 1.04e-5 3.68e-4 ✓ sig.
ECM proteoglycans Reactome 6 / 51 8.1× 9.19e-5 2.17e-3 ✓ sig.
Collagen degradation Reactome 6 / 52 7.9× 1.03e-4 2.37e-3 ✓ sig.

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 GO:0007517 20 / 114 18.7× 4.01e-20 6.41e-17 ✓ sig.
protein O-linked glycosylation via mannose GO:0035269 11 / 18 65.3× 1.06e-18 1.34e-15 ✓ sig.
muscle contraction GO:0006936 15 / 85 18.8× 2.07e-15 1.57e-12 ✓ sig.
protein glycosylation GO:0006486 16 / 181 9.4× 1.47e-11 5.23e-9 ✓ sig.
basement membrane organization GO:0071711 8 / 29 29.5× 1.83e-10 5.00e-8 ✓ sig.
protein O-linked glycosylation GO:0006493 10 / 71 15.0× 1.13e-9 2.51e-7 ✓ sig.
cardiac muscle cell development GO:0055013 7 / 25 29.9× 2.34e-9 4.76e-7 ✓ sig.
muscle cell cellular homeostasis GO:0046716 7 / 26 28.7× 3.17e-9 6.20e-7 ✓ sig.
skeletal muscle fiber differentiation GO:0098528 5 / 9 59.3× 8.31e-9 1.45e-6 ✓ sig.
skeletal muscle tissue development GO:0007519 9 / 68 14.1× 1.38e-8 2.26e-6 ✓ sig.
heart development GO:0007507 15 / 273 5.9× 4.54e-8 6.28e-6 ✓ sig.
cardiac muscle contraction GO:0060048 7 / 43 17.4× 1.36e-7 1.60e-5 ✓ sig.
skeletal muscle fiber development GO:0048741 6 / 31 20.7× 3.75e-7 3.76e-5 ✓ sig.
skeletal muscle organ development GO:0060538 4 / 11 38.8× 2.33e-6 1.68e-4 ✓ sig.
striated muscle contraction GO:0006941 5 / 24 22.2× 2.50e-6 1.79e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Limb girdle muscular dystrophy Muscular dystrophy 0.500 30 3.59e-72 2.62e-70 ✓ sig.
Muscle eye brain disease Walker-warburg syndrome 0.778 14 3.75e-45 1.76e-43 ✓ sig.
autosomal recessive limb-girdle muscular dystrophy Limb girdle muscular dystrophy 0.359 14 2.01e-38 8.10e-37 ✓ sig.
Congenital muscular dystrophy Muscular dystrophy 0.254 15 1.09e-33 3.75e-32 ✓ sig.
autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy 0.245 13 1.52e-32 5.06e-31 ✓ sig.
Muscular dystrophy Myopathy 0.139 20 1.86e-30 5.72e-29 ✓ sig.
Congenital muscular dystrophy Limb girdle muscular dystrophy 0.245 12 4.67e-27 1.27e-25 ✓ sig.
Limb girdle muscular dystrophy Muscle eye brain disease 0.227 10 6.84e-24 1.56e-22 ✓ sig.
Congenital muscular dystrophy Muscle eye brain disease 0.310 9 1.85e-23 4.15e-22 ✓ sig.
Congenital muscular dystrophy Walker-warburg syndrome 0.300 9 4.23e-23 9.26e-22 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy Muscle eye brain disease 0.438 7 1.58e-22 3.36e-21 ✓ sig.
Limb girdle muscular dystrophy Myopathy 0.102 14 4.19e-21 8.37e-20 ✓ sig.
Limb girdle muscular dystrophy Walker-warburg syndrome 0.196 9 1.38e-20 2.70e-19 ✓ sig.
Muscle eye brain disease Muscular dystrophy 0.155 9 1.12e-19 2.11e-18 ✓ sig.
Muscular dystrophy Walker-warburg syndrome 0.153 9 2.56e-19 4.68e-18 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy Walker-warburg syndrome 0.333 6 3.03e-18 5.27e-17 ✓ sig.
Congenital muscular dystrophy Congenital muscular dystrophy due to dystroglycanopathy 0.200 5 7.66e-14 9.99e-13 ✓ sig.
Congenital muscular dystrophy Myopathy 0.063 8 1.79e-12 2.08e-11 ✓ sig.
Limb girdle muscular dystrophy muscular dystrophy, limb-girdle, autosomal dominant 0.103 4 3.15e-11 3.30e-10 ✓ sig.
Muscular dystrophy muscular dystrophy, limb-girdle, autosomal dominant 0.077 4 1.07e-10 1.06e-9 ✓ sig.
autosomal recessive limb-girdle muscular dystrophy Sarcoglycanopathies 0.133 2 7.68e-7 4.57e-6 ✓ sig.
Limb girdle muscular dystrophy Sarcoglycanopathies 0.051 2 5.93e-6 3.03e-5 ✓ sig.
Muscular dystrophy Sarcoglycanopathies 0.038 2 1.08e-5 5.30e-5 ✓ sig.
Eye abnormalities Walker-warburg syndrome 0.063 2 1.36e-4 4.12e-4 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in GMPPB 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy muscular dystrophy-dystroglycanopathy 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in CRPPA 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in POMGNT1 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in FKRP 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Muscle eye brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in POMT2 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in POMT1 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in POMGNT2 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in POMGNT1 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in GMPPB 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in FKTN 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease muscular dystrophy-dystroglycanopathy 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in CRPPA 0.063 1 9.74e-4 1.67e-3 ✓ sig.
Muscle eye brain disease myopathy caused by variation in FKRP 0.063 1 9.74e-4 1.67e-3 ✓ sig.
myopathy caused by variation in FKRP Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in FKTN Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in POMT2 Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
muscular dystrophy-dystroglycanopathy Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in POMT1 Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in GMPPB Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in POMGNT2 Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in CRPPA Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
myopathy caused by variation in POMGNT1 Walker-warburg syndrome 0.059 1 1.04e-3 1.74e-3 ✓ sig.
Eye abnormalities frank-ter haar syndrome 0.056 1 1.10e-3 1.83e-3 ✓ sig.
Eye abnormalities myopathy caused by variation in CRPPA 0.056 1 1.10e-3 1.83e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in POMGNT1 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in GMPPB 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in POMT1 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in FKTN 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in POMT2 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in CRPPA 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy myopathy caused by variation in FKRP 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Congenital muscular dystrophy muscular dystrophy-dystroglycanopathy 0.043 1 1.43e-3 2.23e-3 ✓ sig.
Limb girdle muscular dystrophy myopathy caused by variation in FKTN 0.026 1 2.47e-3 3.37e-3 ✓ sig.
Limb girdle muscular dystrophy myopathy caused by variation in POMT2 0.026 1 2.47e-3 3.37e-3 ✓ sig.
Limb girdle muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 0.026 1 2.47e-3 3.37e-3 ✓ sig.
Muscular dystrophy myopathy caused by variation in FKTN 0.019 1 3.31e-3 4.31e-3 ✓ sig.
Muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 0.019 1 3.31e-3 4.31e-3 ✓ sig.
Axonal neuropathy with neuromyotonia Myopathy 0.009 1 7.27e-3 8.58e-3 ✓ sig.