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 130

10 diseases · 35 shared-gene connections
10 Diseases
1 Unique genes
0.500 Avg. similarity score
Achondroplasia Most-connected disease (9 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 ⇵
Achondroplasia 9 9 1
Camptodactyly, tall stature, and hearing loss syndrome 9 9 1
Catshl syndrome 9 9 1
Crouzon syndrome with acanthosis nigricans 9 9 1
Muenke syndrome 9 9 1
Crouzon syndrome-acanthosis nigricans syndrome 5 5 1
Thanatophoric dysplasia 5 5 1
camptodactyly-tall stature-scoliosis-hearing loss syndrome 5 5 1
hypochondroplasia 5 5 1
severe achondroplasia-developmental delay-acanthosis nigricans syndrome 5 5 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
FGFR3 10 / 10 Achondroplasia, Camptodactyly, tall stature, and hearing loss syndrome, camptodactyly-tall stature-scoliosis-hearing loss syndrome, Catshl syndrome and 6 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 ⇵
t(4;14) translocations of FGFR3
FGFR3
 Reactome 1 / 1 12,010× 8.33e-5 1.93e-3 ✓ sig.
FGFR3b ligand binding and activation
FGFR3
 Reactome 1 / 7 1,716× 5.83e-4 8.99e-3 ✓ sig.
Signaling by FGFR3 fusions in cancer
FGFR3
 Reactome 1 / 10 1,201× 8.33e-4 1.18e-2 ✓ sig.
Signaling by activated point mutants of FGFR3
FGFR3
 Reactome 1 / 12 1,001× 9.99e-4 1.35e-2 ✓ sig.
FGFR3 mutant receptor activation
FGFR3
 Reactome 1 / 12 1,001× 9.99e-4 1.35e-2 ✓ sig.
FGFR3c ligand binding and activation
FGFR3
 Reactome 1 / 13 924× 1.08e-3 1.44e-2 ✓ sig.
Phospholipase C-mediated cascade; FGFR3
FGFR3
 Reactome 1 / 13 924× 1.08e-3 1.44e-2 ✓ sig.
PI-3K cascade:FGFR3
FGFR3
 Reactome 1 / 18 667× 1.50e-3 1.85e-2 ✓ sig.
SHC-mediated cascade:FGFR3
FGFR3
 Reactome 1 / 18 667× 1.50e-3 1.85e-2 ✓ sig.
FRS-mediated FGFR3 signaling
FGFR3
 Reactome 1 / 20 601× 1.67e-3 2.00e-2 ✓ sig.
Negative regulation of FGFR3 signaling
FGFR3
 Reactome 1 / 22 546× 1.83e-3 2.14e-2 ✓ sig.
Signaling by FGFR3 point mutants in cancer
FGFR3
 Reactome 1 / 22 546× 1.83e-3 2.14e-2 ✓ sig.
PI3K Cascade
FGFR3
 Reactome 1 / 39 308× 3.25e-3 3.26e-2 ✓ sig.
Bladder cancer
FGFR3
 KEGG 1 / 41 293× 3.41e-3 3.38e-2 ✓ sig.
Central carbon metabolism in cancer
FGFR3
 KEGG 1 / 71 169× 5.91e-3 4.89e-2 ✓ 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 ⇵
negative regulation of developmental growth
FGFR3
 GO:0048640 1 / 1 18,687× 5.35e-5 1.89e-3 ✓ sig.
fibroblast growth factor receptor apoptotic signaling pathway
FGFR3
 GO:1902178 1 / 2 9,344× 1.07e-4 3.18e-3 ✓ sig.
bone maturation
FGFR3
 GO:0070977 1 / 3 6,229× 1.61e-4 4.31e-3 ✓ sig.
positive regulation of phospholipase activity
FGFR3
 GO:0010518 1 / 4 4,672× 2.14e-4 5.28e-3 ✓ sig.
endochondral bone growth
FGFR3
 GO:0003416 1 / 10 1,869× 5.35e-4 9.98e-3 ✓ sig.
chondrocyte proliferation
FGFR3
 GO:0035988 1 / 15 1,246× 8.03e-4 1.30e-2 ✓ sig.
positive regulation of tyrosine phosphorylation of STAT protein
FGFR3
 GO:0042531 1 / 23 812× 1.23e-3 1.72e-2 ✓ sig.
endochondral ossification
FGFR3
 GO:0001958 1 / 31 603× 1.66e-3 2.03e-2 ✓ sig.
bone morphogenesis
FGFR3
 GO:0060349 1 / 32 584× 1.71e-3 2.07e-2 ✓ sig.
bone mineralization
FGFR3
 GO:0030282 1 / 56 334× 3.00e-3 2.82e-2 ✓ sig.
fibroblast growth factor receptor signaling pathway
FGFR3
 GO:0008543 1 / 60 311× 3.21e-3 2.91e-2 ✓ sig.
chondrocyte differentiation
FGFR3
 GO:0002062 1 / 61 306× 3.26e-3 2.95e-2 ✓ sig.
cell surface receptor signaling pathway via JAK-STAT
FGFR3
 GO:0007259 1 / 67 279× 3.59e-3 3.12e-2 ✓ sig.
cartilage development
FGFR3
 GO:0051216 1 / 89 210× 4.76e-3 3.58e-2 ✓ sig.
ossification
FGFR3
 GO:0001503 1 / 110 170× 5.89e-3 3.99e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Catshl syndrome hypochondroplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Crouzon syndrome with acanthosis nigricans Thanatophoric dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia Crouzon syndrome-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome Crouzon syndrome-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Catshl syndrome Crouzon syndrome-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Crouzon syndrome with acanthosis nigricans Crouzon syndrome-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Crouzon syndrome-acanthosis nigricans syndrome Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia hypochondroplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome hypochondroplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Crouzon syndrome with acanthosis nigricans Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Crouzon syndrome with acanthosis nigricans hypochondroplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
hypochondroplasia Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Muenke syndrome Thanatophoric dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Catshl syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Crouzon syndrome with acanthosis nigricans severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Muenke syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
camptodactyly-tall stature-scoliosis-hearing loss syndrome Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia Catshl syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia Crouzon syndrome with acanthosis nigricans 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia Thanatophoric dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia camptodactyly-tall stature-scoliosis-hearing loss syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly, tall stature, and hearing loss syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
camptodactyly-tall stature-scoliosis-hearing loss syndrome Catshl syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
camptodactyly-tall stature-scoliosis-hearing loss syndrome Crouzon syndrome with acanthosis nigricans 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Achondroplasia Camptodactyly, tall stature, and hearing loss syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome Catshl syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome Crouzon syndrome with acanthosis nigricans 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Camptodactyly, tall stature, and hearing loss syndrome Thanatophoric dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Catshl syndrome Crouzon syndrome with acanthosis nigricans 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Catshl syndrome Muenke syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Catshl syndrome Thanatophoric dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.