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 14
24
Diseases
175
Unique genes
0.119
Avg. similarity score
Walker-warburg syndrome
Most-connected disease (17 links)
Disease
Searched: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Walker-warburg syndrome
Muscle eye brain disease
Congenital muscular dystrophy
Limb girdle muscular dystrophy
Muscular dystrophy
Congenital muscular dystrophy due to dystroglycanopathy
myopathy caused by variation in CRPPA
myopathy caused by variation in FKTN
Myopathy
muscular dystrophy-dystroglycanopathy
myopathy caused by variation in FKRP
myopathy caused by variation in GMPPB
myopathy caused by variation in POMGNT1
myopathy caused by variation in POMT2
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
Eye abnormalities
Sarcoglycanopathies
autosomal recessive limb-girdle muscular dystrophy
myopathy caused by variation in POMT1
muscular dystrophy, limb-girdle, autosomal dominant
myopathy caused by variation in POMGNT2
Axonal neuropathy with neuromyotonia
frank-ter haar syndrome
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. |