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 128

11 diseases · 37 shared-gene connections
11 Diseases
11 Unique genes
0.410 Avg. similarity score
Ankylosis Most-connected disease (10 links)
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Disease Searched: Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 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 ⇵
Ankylosis 10 10 1
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10 10 1
Cutis gyrata syndrome 10 10 1
Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 9 9 1
Acrocephalosyndactyly type v 8 8 1
Biliary tract neoplasms 5 5 3
Familial scaphocephaly syndrome 5 5 1
Lacrimo-auriculo-dento-digital syndrome 1 5 5 1
Scaphocephaly, maxillary retrusion, and mental retardation 5 5 1
Congenital aural atresia 4 4 3
Dysgerminoma of ovary 3 3 7

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

Gene ⇵ Member diseases ⇵ Linked diseases
FGFR2 11 / 11 Acrocephalosyndactyly type v, Ankylosis, Antley-bixler syndrome without genital anomalies or disordered steroidogenesis, Biliary tract neoplasms and 7 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 ⇵
Ras signaling pathway
FGFR2, PRKACB, RRAS2, KRAS, KIT
 KEGG 5 / 237 23.0× 1.20e-6 4.89e-5 ✓ sig.
MAPK signaling pathway
FGFR2, PRKACB, RRAS2, KRAS, KIT
 KEGG 5 / 299 18.3× 3.78e-6 1.30e-4 ✓ sig.
Central carbon metabolism in cancer
FGFR2, KRAS, KIT
 KEGG 3 / 71 46.1× 3.16e-5 7.56e-4 ✓ sig.
Pathways in cancer
FGFR2, PRKACB, KRAS, CDKN2A, KIT
 KEGG 5 / 533 10.2× 6.25e-5 1.30e-3 ✓ sig.
Endocrine resistance
PRKACB, KRAS, CDKN2A
 KEGG 3 / 99 33.1× 8.55e-5 1.68e-3 ✓ sig.
Melanogenesis
PRKACB, KRAS, KIT
 KEGG 3 / 101 32.4× 9.07e-5 1.76e-3 ✓ sig.
CD209 (DC-SIGN) signaling
PRKACB, KRAS
 Reactome 2 / 21 104× 1.59e-4 2.74e-3 ✓ sig.
RAF/MAP kinase cascade
FGFR2, KRAS, KIT
 Reactome 3 / 124 26.4× 1.67e-4 2.85e-3 ✓ sig.
SHC-mediated cascade:FGFR2
FGFR2, KRAS
 Reactome 2 / 23 94.9× 1.91e-4 3.16e-3 ✓ sig.
PI3K-Akt signaling pathway
FGFR2, BRCA1, KRAS, KIT
 KEGG 4 / 361 12.1× 2.24e-4 3.59e-3 ✓ sig.
FRS-mediated FGFR2 signaling
FGFR2, KRAS
 Reactome 2 / 25 87.3× 2.26e-4 3.62e-3 ✓ sig.
Apelin signaling pathway
PRKACB, RRAS2, KRAS
 KEGG 3 / 140 23.4× 2.39e-4 3.77e-3 ✓ sig.
Signaling by FGFR2 in disease
FGFR2, KRAS
 Reactome 2 / 27 80.9× 2.64e-4 4.09e-3 ✓ sig.
Breast cancer
BRCA1, KRAS, KIT
 KEGG 3 / 148 22.1× 2.81e-4 4.29e-3 ✓ sig.
Phospholipase D signaling pathway
RRAS2, KRAS, KIT
 KEGG 3 / 149 22.0× 2.87e-4 4.36e-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 ⇵
Ras protein signal transduction
RRAS2, KRAS, CDKN2A
 GO:0007265 3 / 79 64.5× 1.17e-5 6.14e-4 ✓ sig.
chordate embryonic development
FGFR2, BRCA1
 GO:0043009 2 / 11 309× 1.73e-5 8.27e-4 ✓ sig.
positive regulation of gene expression
BRCA1, KRAS, CDKN2A, KIT
 GO:0010628 4 / 504 13.5× 1.48e-4 4.11e-3 ✓ sig.
digestive tract development
FGFR2, KIT
 GO:0048565 2 / 34 99.9× 1.75e-4 4.61e-3 ✓ sig.
negative regulation of DNA-templated transcription
ELF3, BRCA1, SET, CDKN2A
 GO:0045892 4 / 631 10.8× 3.52e-4 7.51e-3 ✓ sig.
visual learning
KRAS, KIT
 GO:0008542 2 / 54 62.9× 4.43e-4 8.75e-3 ✓ sig.
negative regulation of cell cycle
BRCA1, CDKN2A
 GO:0045786 2 / 59 57.6× 5.29e-4 9.88e-3 ✓ sig.
fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell
FGFR2
 GO:0035602 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
fibroblast growth factor receptor signaling pathway involved in hemopoiesis
FGFR2
 GO:0035603 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow
FGFR2
 GO:0035604 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
lateral sprouting from an epithelium
FGFR2
 GO:0060601 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
melanocyte adhesion
KIT
 GO:0097326 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
positive regulation of pyloric antrum smooth muscle contraction
KIT
 GO:0120072 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
positive regulation of colon smooth muscle contraction
KIT
 GO:1904343 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.
response to mineralocorticoid
KRAS
 GO:0051385 1 / 1 1,699× 5.89e-4 1.06e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Acrocephalosyndactyly type v Cutis gyrata syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acrocephalosyndactyly type v Scaphocephaly, maxillary retrusion, and mental retardation 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome Scaphocephaly, maxillary retrusion, and mental retardation 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Scaphocephaly, maxillary retrusion, and mental retardation 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Cutis gyrata syndrome Scaphocephaly, maxillary retrusion, and mental retardation 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ankylosis Scaphocephaly, maxillary retrusion, and mental retardation 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acrocephalosyndactyly type v Lacrimo-auriculo-dento-digital syndrome 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome Lacrimo-auriculo-dento-digital syndrome 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Lacrimo-auriculo-dento-digital syndrome 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Cutis gyrata syndrome Lacrimo-auriculo-dento-digital syndrome 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ankylosis Lacrimo-auriculo-dento-digital syndrome 1 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Cutis gyrata syndrome Familial scaphocephaly syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome Familial scaphocephaly syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome Cutis gyrata syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acrocephalosyndactyly type v Ankylosis 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acrocephalosyndactyly type v Antley-bixler syndrome without genital anomalies or disordered steroidogenesis 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acrocephalosyndactyly type v Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Acrocephalosyndactyly type v Familial scaphocephaly syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ankylosis Cutis gyrata syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ankylosis Antley-bixler syndrome without genital anomalies or disordered steroidogenesis 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ankylosis Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Ankylosis Familial scaphocephaly syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Familial scaphocephaly syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Cutis gyrata syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 0.500 1 6.46e-5 1.98e-4 ✓ sig.
Biliary tract neoplasms Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Ankylosis Biliary tract neoplasms 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Biliary tract neoplasms Cutis gyrata syndrome 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Congenital aural atresia Craniofacial-skeletal-dermatologic dysplasia, pfeiffer syndrome 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Congenital aural atresia 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Congenital aural atresia Cutis gyrata syndrome 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Ankylosis Congenital aural atresia 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Acrocephalosyndactyly type v Biliary tract neoplasms 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Biliary tract neoplasms 0.250 1 1.94e-4 4.41e-4 ✓ sig.
Antley-bixler syndrome without genital anomalies or disordered steroidogenesis Dysgerminoma of ovary 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Cutis gyrata syndrome Dysgerminoma of ovary 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Ankylosis Dysgerminoma of ovary 0.143 1 3.87e-4 7.33e-4 ✓ sig.