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 252

7 diseases · 18 shared-gene connections
7 Diseases
15 Unique genes
0.304 Avg. similarity score
Dominant dystrophic epidermolysis bullosa with absence of skin Most-connected disease (6 links)
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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 ⇵
Dominant dystrophic epidermolysis bullosa with absence of skin 6 6 1
Dominant dystrophic epidermolysis bullosa, albopapular type 6 6 1
recessive dystrophic epidermolysis bullosa 6 6 1
Dystrophic epidermolysis bullosa 5 5 2
Hallopeau siemens disease 5 5 2
Nail dystrophy 5 5 2
Duane retraction syndrome 3 3 12

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

Gene ⇵ Member diseases ⇵ Linked diseases
COL7A1 7 / 7 Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome, Dystrophic epidermolysis bullosa and 3 more
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 ⇵
Parkinson disease
GNAS, KIF5C, TUBA8, MFN2
 KEGG 4 / 268 12.0× 2.73e-4 4.98e-3 ✓ sig.
Signaling by SCF-KIT
FER, PTPN11
 Reactome 2 / 37 43.3× 9.46e-4 1.30e-2 ✓ sig.
Motor proteins
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 194 12.4× 1.64e-3 1.97e-2 ✓ sig.
Collagen degradation
COL7A1, MMP1
 Reactome 2 / 52 30.8× 1.86e-3 2.16e-2 ✓ sig.
Pathways of neurodegeneration - multiple diseases
ACTR1B, KIF5C, TUBA8, MFN2
 KEGG 4 / 480 6.7× 2.42e-3 2.63e-2 ✓ sig.
Salmonella infection
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 248 9.7× 3.29e-3 3.29e-2 ✓ sig.
Gap junction
GNAS, TUBA8
 KEGG 2 / 89 18.0× 5.36e-3 4.58e-2 ✓ sig.
Huntington disease
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 308 7.8× 6.04e-3 4.96e-2 ✓ sig.
MET activates PTPN11
PTPN11
 Reactome 1 / 5 160× 6.23e-3 5.06e-2
Parathyroid hormone synthesis, secretion and action
GNAS, MAFB
 KEGG 2 / 115 13.9× 8.80e-3 6.35e-2
Amyotrophic lateral sclerosis
ACTR1B, KIF5C, TUBA8
 KEGG 3 / 368 6.5× 9.87e-3 6.81e-2
MHC class II antigen presentation
ACTR1B, TUBA8
 Reactome 2 / 123 13.0× 1.00e-2 6.85e-2
Relaxin signaling pathway
MMP1, GNAS
 KEGG 2 / 130 12.3× 1.11e-2 7.32e-2
MAPK1 (ERK2) activation
PTPN11
 Reactome 1 / 9 89.0× 1.12e-2 7.34e-2
Dopaminergic synapse
GNAS, KIF5C
 KEGG 2 / 132 12.1× 1.15e-2 7.45e-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 ⇵
motor neuron axon guidance
CHN1, KIF5C
 GO:0008045 2 / 24 104× 1.64e-4 4.39e-3 ✓ sig.
platelet-derived growth factor receptor signaling pathway
FER, PTPN11
 GO:0048008 2 / 33 75.5× 3.13e-4 6.93e-3 ✓ sig.
ephrin receptor signaling pathway
CHN1, PTPN11
 GO:0048013 2 / 51 48.9× 7.50e-4 1.25e-2 ✓ sig.
adherens junction disassembly
FER
 GO:0120179 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
rhombomere 6 development
MAFB
 GO:0021572 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
negative regulation of cortisol secretion
PTPN11
 GO:0051463 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
negative regulation of growth hormone secretion
PTPN11
 GO:0060125 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
intestinal epithelial cell migration
PTPN11
 GO:0061582 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
female somatic sex determination
FOXL2
 GO:0019101 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
granulosa cell differentiation
FOXL2
 GO:0060014 1 / 1 1,246× 8.03e-4 1.30e-2 ✓ sig.
rhombomere 5 development
MAFB
 GO:0021571 1 / 2 623× 1.60e-3 1.98e-2 ✓ sig.
abducens nerve formation
MAFB
 GO:0021599 1 / 2 623× 1.60e-3 1.98e-2 ✓ sig.
microvillus organization
PTPN11
 GO:0032528 1 / 2 623× 1.60e-3 1.98e-2 ✓ sig.
brain segmentation
MAFB
 GO:0035284 1 / 3 415× 2.41e-3 2.50e-2 ✓ sig.
response to platelet-derived growth factor
FER
 GO:0036119 1 / 3 415× 2.41e-3 2.50e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Dominant dystrophic epidermolysis bullosa with absence of skin recessive dystrophic epidermolysis bullosa 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Dominant dystrophic epidermolysis bullosa, albopapular type 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type recessive dystrophic epidermolysis bullosa 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Nail dystrophy recessive dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Hallopeau siemens disease recessive dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dystrophic epidermolysis bullosa recessive dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Hallopeau siemens disease 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Nail dystrophy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Hallopeau siemens disease 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Nail dystrophy 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Dystrophic epidermolysis bullosa 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Dystrophic epidermolysis bullosa Nail dystrophy 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Dystrophic epidermolysis bullosa Hallopeau siemens disease 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Hallopeau siemens disease Nail dystrophy 0.250 1 2.60e-4 6.40e-4 ✓ sig.
Dominant dystrophic epidermolysis bullosa with absence of skin Duane retraction syndrome 0.077 1 7.79e-4 1.39e-3 ✓ sig.
Dominant dystrophic epidermolysis bullosa, albopapular type Duane retraction syndrome 0.077 1 7.79e-4 1.39e-3 ✓ sig.
Duane retraction syndrome recessive dystrophic epidermolysis bullosa 0.077 1 7.79e-4 1.39e-3 ✓ sig.