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 · 67 shared-gene connections
24 Diseases
183 Unique genes
0.119 Avg. similarity score
Walker-warburg syndrome Most-connected disease (17 links)
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Disease Searched: autosomal recessive limb-girdle muscular dystrophy 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 ⇵
Walker-warburg syndrome 17 17 16
Muscle eye brain disease 16 16 15
Congenital muscular dystrophy 14 14 23
Limb girdle muscular dystrophy 11 11 0
Muscular dystrophy 10 10 54
Congenital muscular dystrophy due to dystroglycanopathy 8 8 7
myopathy caused by variation in CRPPA 5 5 0
myopathy caused by variation in FKTN 5 5 0
Myopathy 4 4 120
muscular dystrophy-dystroglycanopathy 4 4 0
myopathy caused by variation in FKRP 4 4 0
myopathy caused by variation in GMPPB 4 4 0
myopathy caused by variation in POMGNT1 4 4 0
myopathy caused by variation in POMT2 4 4 0
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 4 4 0
Eye abnormalities 3 3 17
Sarcoglycanopathies 3 3 2
autosomal recessive limb-girdle muscular dystrophy 3 3 0
myopathy caused by variation in POMT1 3 3 0
muscular dystrophy, limb-girdle, autosomal dominant 2 2 0
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2 2 0
myopathy caused by variation in POMGNT2 2 2 0
Axonal neuropathy with neuromyotonia 1 1 1
frank-ter haar syndrome 1 1 0

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

Gene ⇵ Member diseases ⇵ Linked diseases
CRPPA 8 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Eye abnormalities, Muscle eye brain disease and 4 more
GMPPB 8 / 24 Autosomal recessive limb-girdle muscular dystrophy, Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease and 4 more
FKRP 7 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Muscular dystrophy and 3 more
LARGE1 6 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Muscular dystrophy and 2 more
POMGNT1 6 / 24 Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Muscular dystrophy and 2 more
CAPN3 5 / 24 Autosomal recessive limb-girdle muscular dystrophy, Congenital muscular dystrophy, Muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal dominant and 1 more
DAG1 5 / 24 Muscle eye brain disease, Muscular dystrophy, Myopathy, Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan and 1 more
FKTN 5 / 24 Congenital muscular dystrophy, Muscle eye brain disease, Muscular dystrophy, Myopathy caused by variation in FKTN and 1 more
POMT1 5 / 24 Congenital muscular dystrophy, Muscle eye brain disease, Muscular dystrophy, Myopathy caused by variation in POMT1 and 1 more
POMT2 5 / 24 Congenital muscular dystrophy, Muscle eye brain disease, Muscular dystrophy, Myopathy caused by variation in POMT2 and 1 more
B3GALNT2 4 / 24 Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy, Walker-warburg syndrome
DYSF 4 / 24 Autosomal recessive limb-girdle muscular dystrophy, Congenital muscular dystrophy, Muscular dystrophy, Myopathy
LAMA2 4 / 24 Autosomal recessive limb-girdle muscular dystrophy, Congenital muscular dystrophy, Muscular dystrophy, Myopathy
ANO5 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
B4GAT1 3 / 24 Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a13, Walker-warburg syndrome
COL4A1 3 / 24 Eye abnormalities, Myopathy, Walker-warburg syndrome
COL6A2 3 / 24 Congenital muscular dystrophy, Muscular dystrophy, Myopathy
HMGCR 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
NEB 3 / 24 Congenital muscular dystrophy, Muscular dystrophy, Myopathy
PLEC 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
POMGNT2 3 / 24 Muscle eye brain disease, Myopathy caused by variation in POMGNT2, Walker-warburg syndrome
POMK 3 / 24 Congenital muscular dystrophy, Muscle eye brain disease, Walker-warburg syndrome
SGCA 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Sarcoglycanopathies
SGCG 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Sarcoglycanopathies
TOR1AIP1 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
TRAPPC11 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
TRIM32 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
TTN 3 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy
COL6A1 2 / 24 Muscular dystrophy, Myopathy
COL6A3 2 / 24 Muscular dystrophy, Myopathy
DMD 2 / 24 Muscular dystrophy, Myopathy
DNAJB6 2 / 24 Muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal dominant
GAA 2 / 24 Muscular dystrophy, Myopathy
HINT1 2 / 24 Axonal neuropathy with neuromyotonia, Myopathy
HNRNPDL 2 / 24 Muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal dominant
ITGA7 2 / 24 Congenital muscular dystrophy, Myopathy
JAG2 2 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy
LMNA 2 / 24 Congenital muscular dystrophy, Muscular dystrophy
LOC102723370 2 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy
MYH2 2 / 24 Muscular dystrophy, Myopathy
POPDC3 2 / 24 Autosomal recessive limb-girdle muscular dystrophy, 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
SELENON 2 / 24 Muscular dystrophy, Myopathy
SGCB 2 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy
SGCD 2 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy
SH3PXD2B 2 / 24 Eye abnormalities, Frank-ter haar syndrome
SMCHD1 2 / 24 Muscular dystrophy, Myopathy
TCAP 2 / 24 Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy
TNPO3 2 / 24 Muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal dominant
TSPAN1 2 / 24 Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease
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
CAPN3, DAG1, SGCA, SGCB, SGCD, SGCG, TCAP, TTN, PLEC, COL6A2, LAMA2, LMNA
 KEGG 32 / 232 9.5× 1.66e-22 1.88e-19 ✓ sig.
Mannose type O-glycan biosynthesis
CRPPA, FKRP, POMT1, FKTN, POMT2, POMGNT1, B3GALNT2, LARGE1, POMK, B4GAT1, POMGNT2, RXYLT1
 KEGG 12 / 23 35.8× 7.37e-17 3.29e-14 ✓ sig.
O-linked glycosylation
DAG1, POMT1, POMT2, POMGNT1, B3GALNT2, LARGE1, POMK, B4GAT1, POMGNT2
 Reactome 9 / 10 61.8× 2.38e-16 9.73e-14 ✓ sig.
Dilated cardiomyopathy
CAV3, DAG1, SGCA, SGCB, SGCD, SGCG, TTN, LAMA2, LMNA, ITGA7, TGFB2, DES
 KEGG 18 / 105 11.8× 9.70e-15 2.96e-12 ✓ sig.
Hypertrophic cardiomyopathy
CAV3, DAG1, SGCA, SGCB, SGCD, SGCG, TTN, LAMA2, LMNA, ITGA7, TGFB2, DES
 KEGG 17 / 99 11.8× 5.38e-14 1.42e-11 ✓ sig.
Striated Muscle Contraction
TCAP, TTN, NEB, DES, DMD, ACTA1, TNNI2, TNNT1, TPM3
 Reactome 9 / 36 17.2× 1.62e-9 1.79e-7 ✓ sig.
Arrhythmogenic right ventricular cardiomyopathy
CAV3, DAG1, SGCA, SGCB, SGCD, SGCG, LAMA2, LMNA, ITGA7, DES, DMD, EMD
 KEGG 12 / 86 9.6× 3.76e-9 3.89e-7 ✓ sig.
Viral myocarditis
CAV3, DAG1, SGCA, SGCB, SGCD, SGCG, LAMA2, DMD, MYH7
 KEGG 9 / 70 8.8× 7.31e-7 3.97e-5 ✓ sig.
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
DAG1, POMT1, POMT2
 Reactome 3 / 3 68.6× 3.04e-6 1.36e-4 ✓ sig.
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
DAG1, POMT1, POMT2
 Reactome 3 / 3 68.6× 3.04e-6 1.36e-4 ✓ sig.
ECM-receptor interaction
DAG1, COL6A2, LAMA2, ITGA7, COL4A1, FREM1, COL6A1, COL6A3, COL6A6
 KEGG 9 / 89 6.9× 5.64e-6 2.23e-4 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
PLEC, COL6A2, COL4A1, COL6A1, COL6A3, COL6A6, CTSB
 Reactome 7 / 51 9.4× 8.34e-6 3.07e-4 ✓ sig.
NCAM1 interactions
COL6A2, COL4A1, COL6A1, COL6A3, COL6A6
 Reactome 5 / 21 16.3× 1.04e-5 3.68e-4 ✓ sig.
ECM proteoglycans
DAG1, COL6A2, ITGA7, COL6A1, COL6A3, COL6A6
 Reactome 6 / 51 8.1× 9.19e-5 2.17e-3 ✓ sig.
Collagen degradation
COL6A2, COL4A1, COL6A1, COL6A3, COL6A6, CTSB
 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
CAPN3, CAV3, BVES, SGCA, SGCB, SGCD, SGCG, FKTN, LARGE1, LAMA2, LMNA, NEB
 GO:0007517 20 / 114 18.7× 4.01e-20 6.41e-17 ✓ sig.
protein O-linked glycosylation via mannose
CRPPA, FKRP, POMT1, FKTN, POMT2, POMGNT1, LARGE1, B4GAT1, POMGNT2, RXYLT1, DPM3
 GO:0035269 11 / 18 65.3× 1.06e-18 1.34e-15 ✓ sig.
muscle contraction
SGCA, FKRP, TTN, RYR1, DES, DMD, MYH2, MYOT, ACTA1, CLCN1, EMD, MYH7
 GO:0006936 15 / 85 18.8× 2.07e-15 1.57e-12 ✓ sig.
protein glycosylation
GMPPB, CRPPA, POGLUT1, FKRP, POMT1, FKTN, POMT2, POMGNT1, B3GALNT2, LARGE1, DPM2, B4GAT1
 GO:0006486 16 / 181 9.4× 1.47e-11 5.23e-9 ✓ sig.
basement membrane organization
DAG1, FKRP, FKTN, POMT2, POMGNT1, LARGE1, COL4A1, COL6A1
 GO:0071711 8 / 29 29.5× 1.83e-10 5.00e-8 ✓ sig.
protein O-linked glycosylation
POGLUT1, POMT1, FKTN, POMT2, POMGNT1, B3GALNT2, LARGE1, POMK, POMGNT2, PLOD1
 GO:0006493 10 / 71 15.0× 1.13e-9 2.51e-7 ✓ sig.
cardiac muscle cell development
CAV3, SGCB, SGCD, TCAP, TTN, PLEC, LARGE1
 GO:0055013 7 / 25 29.9× 2.34e-9 4.76e-7 ✓ sig.
muscle cell cellular homeostasis
CAPN3, TRIM32, LARGE1, DMD, GAA, MTM1, TGFB1
 GO:0046716 7 / 26 28.7× 3.17e-9 6.20e-7 ✓ sig.
skeletal muscle fiber differentiation
FKRP, FKTN, LARGE1, SHH, COL6A1
 GO:0098528 5 / 9 59.3× 8.31e-9 1.45e-6 ✓ sig.
skeletal muscle tissue development
BVES, POPDC3, FKRP, PLEC, SHH, COL6A1, DMD, SELENON, CASQ1
 GO:0007519 9 / 68 14.1× 1.38e-8 2.26e-6 ✓ sig.
heart development
DAG1, BVES, POPDC3, FKRP, LARGE1, BMPR1A, NDST1, SH3PXD2B, SHH, TGFB2, TGFBR2, COL6A1
 GO:0007507 15 / 273 5.9× 4.54e-8 6.28e-6 ✓ sig.
cardiac muscle contraction
SGCD, TCAP, TTN, DMD, GAA, MYH7, TNNI2
 GO:0060048 7 / 43 17.4× 1.36e-7 1.60e-5 ✓ sig.
skeletal muscle fiber development
PLEC, LARGE1, RYR1, COL6A1, SELENON, ACTA1
 GO:0048741 6 / 31 20.7× 3.75e-7 3.76e-5 ✓ sig.
skeletal muscle organ development
FKRP, LARGE1, COL6A1, DES
 GO:0060538 4 / 11 38.8× 2.33e-6 1.68e-4 ✓ sig.
striated muscle contraction
TTN, LARGE1, RYR1, GAA, MYH7
 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.