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 61

15 diseases · 46 shared-gene connections
15 Diseases
22 Unique genes
0.498 Avg. similarity score
Congenital deformity of clavicle Most-connected disease (12 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 ⇵
Congenital deformity of clavicle 12 12 7
Congenital deformity of elbow 12 12 7
Congenital deformity of forearm 11 11 7
Congenital deformity of scapula 10 10 7
Congenital deformity of wrist 8 8 7
Lethal congenital contracture syndrome 6 6 13
Arthrogryposis with perthes disease and gaze palsy 5 5 1
Congenital dislocation of elbow 5 5 7
Congenital glenohumeral joint dislocation 5 5 7
autosomal dominant centronuclear myopathy 5 5 1
X-linked centronuclear myopathy 4 4 2
lethal congenital contracture syndrome 11 4 4 1
Congenital joint contractures 3 3 9
PIP5K1C-related neurodevelopmental disorder 1 1 1
X-linked myotubular myopathy 1 1 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
DNM2 10 / 15 autosomal dominant centronuclear myopathy, Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm and 6 more
GLDN 10 / 15 Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm, Congenital deformity of scapula and 6 more
NEK9 10 / 15 Arthrogryposis with perthes disease and gaze palsy, Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm and 6 more
ADCY6 8 / 15 Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm, Congenital deformity of scapula and 4 more
ADGRG6 8 / 15 Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm, Congenital deformity of scapula and 4 more
CNTNAP1 8 / 15 Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm, Congenital deformity of scapula and 4 more
ZBTB42 8 / 15 Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm, Congenital deformity of scapula and 4 more
MTM1 2 / 15 X-linked centronuclear myopathy, X-linked myotubular myopathy
PIP5K1C 2 / 15 Lethal congenital contracture syndrome, PIP5K1C-related neurodevelopmental disorder
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 ⇵
Phospholipase D signaling pathway
ADCY6, DNM2, PIP5K1C
 KEGG 3 / 149 11.0× 2.42e-3 2.63e-2 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
COL6A3, DST
 Reactome 2 / 51 21.4× 3.87e-3 3.68e-2 ✓ sig.
Synthesis of PIPs at the plasma membrane
PIP5K1C, MTM1
 Reactome 2 / 51 21.4× 3.87e-3 3.68e-2 ✓ sig.
Endocrine and other factor-regulated calcium reabsorption
ADCY6, DNM2
 KEGG 2 / 53 20.6× 4.17e-3 3.88e-2 ✓ sig.
Inositol phosphate metabolism
PIP5K1C, MTM1
 KEGG 2 / 73 15.0× 7.78e-3 5.86e-2
NOSTRIN mediated eNOS trafficking
DNM2
 Reactome 1 / 5 109× 9.13e-3 6.50e-2
GRB7 events in ERBB2 signaling
ERBB3
 Reactome 1 / 5 109× 9.13e-3 6.50e-2
NOTCH2 intracellular domain regulates transcription
MAMLD1
 Reactome 1 / 7 78.0× 1.28e-2 7.89e-2
Activation of NIMA Kinases NEK9, NEK6, NEK7
NEK9
 Reactome 1 / 7 78.0× 1.28e-2 7.89e-2
Circadian entrainment
ADCY6, RYR1
 KEGG 2 / 97 11.3× 1.34e-2 8.14e-2
Phosphatidylinositol signaling system
PIP5K1C, MTM1
 KEGG 2 / 98 11.1× 1.37e-2 8.24e-2
Fc gamma R-mediated phagocytosis
DNM2, PIP5K1C
 KEGG 2 / 98 11.1× 1.37e-2 8.24e-2
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
PIP5K1C, ERBB3
 Reactome 2 / 103 10.6× 1.50e-2 8.71e-2
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
PIP5K1C
 Reactome 1 / 10 54.6× 1.82e-2 9.77e-2
Adenylate cyclase activating pathway
ADCY6
 Reactome 1 / 10 54.6× 1.82e-2 9.77e-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 ⇵
myelination in peripheral nervous system
ADGRG6, CNTNAP1, SH3TC2
 GO:0022011 3 / 21 121× 1.86e-6 1.36e-4 ✓ sig.
Schwann cell differentiation
ADGRG6, ERBB3
 GO:0014037 2 / 8 212× 3.69e-5 1.43e-3 ✓ sig.
neuronal action potential propagation
CNTNAP1, SCN1A
 GO:0019227 2 / 11 154× 7.23e-5 2.38e-3 ✓ sig.
myelination
ADGRG6, CNTNAP1, ERBB3
 GO:0042552 3 / 73 34.9× 8.35e-5 2.64e-3 ✓ sig.
neuromuscular process controlling posture
CNTNAP1, SCN1A
 GO:0050884 2 / 15 113× 1.38e-4 3.83e-3 ✓ sig.
phosphatidylinositol 3-kinase/protein kinase B signal transduction
COL6A3, ERBB3, MTM1
 GO:0043491 3 / 92 27.7× 1.66e-4 4.42e-3 ✓ sig.
cell adhesion
CNTNAP1, COL6A3, DST, MYBPC1, PIP5K1C
 GO:0007155 5 / 665 6.4× 8.94e-4 1.40e-2 ✓ sig.
membrane organization
DNM2, PIP5K1C
 GO:0061024 2 / 39 43.6× 9.55e-4 1.47e-2 ✓ sig.
regulation of vacuole organization
MTM1
 GO:0044088 1 / 1 849× 1.18e-3 1.66e-2 ✓ sig.
neuromuscular junction development, skeletal muscle fiber
CNTNAP1
 GO:0098529 1 / 1 849× 1.18e-3 1.66e-2 ✓ sig.
regulation of ERBB signaling pathway
SH3TC2
 GO:1901184 1 / 1 849× 1.18e-3 1.66e-2 ✓ sig.
integrator complex assembly
BRAT1
 GO:0160234 1 / 1 849× 1.18e-3 1.66e-2 ✓ sig.
phosphatidylinositol biosynthetic process
PIP5K1C, MTM1
 GO:0006661 2 / 44 38.6× 1.21e-3 1.70e-2 ✓ sig.
positive regulation of cardiac muscle tissue development
ERBB3
 GO:0055025 1 / 2 425× 2.35e-3 2.48e-2 ✓ sig.
postsynaptic density organization
CNTNAP1
 GO:0097106 1 / 2 425× 2.35e-3 2.48e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital deformity of clavicle Congenital deformity of forearm 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of forearm Congenital dislocation of elbow 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of forearm Congenital deformity of wrist 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of forearm Congenital deformity of scapula 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of elbow Congenital dislocation of elbow 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of elbow Congenital deformity of wrist 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of elbow Congenital deformity of scapula 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of elbow Congenital deformity of forearm 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of clavicle Congenital dislocation of elbow 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of clavicle Congenital deformity of wrist 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of clavicle Congenital deformity of scapula 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of clavicle Congenital deformity of elbow 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of scapula Congenital deformity of wrist 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of scapula Congenital dislocation of elbow 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of wrist Congenital dislocation of elbow 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of clavicle Congenital glenohumeral joint dislocation 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of elbow Congenital glenohumeral joint dislocation 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of forearm Congenital glenohumeral joint dislocation 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of scapula Congenital glenohumeral joint dislocation 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of wrist Congenital glenohumeral joint dislocation 0.875 7 2.46e-26 6.77e-25 ✓ sig.
Congenital deformity of elbow Lethal congenital contracture syndrome 0.500 7 4.22e-23 9.80e-22 ✓ sig.
Congenital deformity of clavicle Lethal congenital contracture syndrome 0.500 7 4.22e-23 9.80e-22 ✓ sig.
Congenital deformity of forearm Lethal congenital contracture syndrome 0.500 7 4.22e-23 9.80e-22 ✓ sig.
Congenital deformity of scapula Lethal congenital contracture syndrome 0.500 7 4.22e-23 9.80e-22 ✓ sig.
Congenital deformity of wrist Lethal congenital contracture syndrome 0.500 7 4.22e-23 9.80e-22 ✓ sig.
Congenital deformity of clavicle Congenital joint contractures 0.133 2 6.37e-6 3.43e-5 ✓ sig.
Congenital deformity of elbow Congenital joint contractures 0.133 2 6.37e-6 3.43e-5 ✓ sig.
Congenital deformity of forearm Congenital joint contractures 0.133 2 6.37e-6 3.43e-5 ✓ sig.
autosomal dominant centronuclear myopathy X-linked centronuclear myopathy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
X-linked centronuclear myopathy X-linked myotubular myopathy 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Congenital deformity of clavicle lethal congenital contracture syndrome 11 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Congenital deformity of elbow lethal congenital contracture syndrome 11 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Congenital deformity of forearm lethal congenital contracture syndrome 11 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Congenital deformity of scapula lethal congenital contracture syndrome 11 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Arthrogryposis with perthes disease and gaze palsy Congenital deformity of elbow 0.125 1 4.55e-4 9.55e-4 ✓ sig.
autosomal dominant centronuclear myopathy Congenital deformity of scapula 0.125 1 4.55e-4 9.55e-4 ✓ sig.
autosomal dominant centronuclear myopathy Congenital deformity of forearm 0.125 1 4.55e-4 9.55e-4 ✓ sig.
autosomal dominant centronuclear myopathy Congenital deformity of elbow 0.125 1 4.55e-4 9.55e-4 ✓ sig.
autosomal dominant centronuclear myopathy Congenital deformity of clavicle 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Arthrogryposis with perthes disease and gaze palsy Congenital deformity of wrist 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Arthrogryposis with perthes disease and gaze palsy Congenital deformity of scapula 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Arthrogryposis with perthes disease and gaze palsy Congenital deformity of forearm 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Arthrogryposis with perthes disease and gaze palsy Congenital deformity of clavicle 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Lethal congenital contracture syndrome PIP5K1C-related neurodevelopmental disorder 0.071 1 8.44e-4 1.48e-3 ✓ sig.
Congenital deformity of clavicle X-linked centronuclear myopathy 0.111 1 9.09e-4 1.56e-3 ✓ sig.
Congenital deformity of elbow X-linked centronuclear myopathy 0.111 1 9.09e-4 1.56e-3 ✓ sig.