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 86

12 diseases · 36 shared-gene connections
12 Diseases
21 Unique genes
0.302 Avg. similarity score
11p partial monosomy syndrome 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 ⇵
11p partial monosomy syndrome 9 9 1
Denys drash syndrome 9 9 1
Drash syndrome 9 9 1
denys-drash syndrome 8 8 1
wilms tumor 1 8 8 1
Ambiguous genitalia 6 6 5
Congenital aniridia 6 6 2
Peritoneal neoplasms 6 6 10
Desmoplastic small round cell tumor 5 5 2
Wagr syndrome 4 4 4
Autoimmune nervous system disorder 1 1 4
Schaaf-yang syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
WT1 10 / 12 11p partial monosomy syndrome, Ambiguous genitalia, Congenital aniridia, Denys drash syndrome and 6 more
MAGEL2 2 / 12 Ambiguous genitalia, Schaaf-yang syndrome
MCAM 2 / 12 Autoimmune nervous system disorder, Peritoneal neoplasms
PAX6 2 / 12 Congenital aniridia, Wagr syndrome
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 ⇵
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
PAX6, CTNNB1
 Reactome 2 / 14 81.7× 2.62e-4 4.82e-3 ✓ sig.
Cytochrome P450 - arranged by substrate type
POR
 Reactome 1 / 1 572× 1.75e-3 2.07e-2 ✓ sig.
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1
 Reactome 1 / 1 572× 1.75e-3 2.07e-2 ✓ sig.
Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA
IGF2BP3
 Reactome 1 / 3 191× 5.24e-3 4.50e-2 ✓ sig.
Lactose synthesis
SLC2A1
 Reactome 1 / 3 191× 5.24e-3 4.50e-2 ✓ sig.
Activated NTRK2 signals through PLCG1
BDNF
 Reactome 1 / 4 143× 6.98e-3 5.45e-2
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
CTNNB1
 Reactome 1 / 5 114× 8.71e-3 6.31e-2
NTRK2 activates RAC1
BDNF
 Reactome 1 / 5 114× 8.71e-3 6.31e-2
Activated NTRK2 signals through FRS2 and FRS3
BDNF
 Reactome 1 / 6 95.3× 1.04e-2 7.05e-2
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
PAX6
 Reactome 1 / 7 81.7× 1.22e-2 7.72e-2
Vitamin C (ascorbate) metabolism
SLC2A1
 Reactome 1 / 8 71.5× 1.39e-2 8.31e-2
Binding of TCF/LEF:CTNNB1 to target gene promoters
CTNNB1
 Reactome 1 / 8 71.5× 1.39e-2 8.31e-2
RUNX3 regulates WNT signaling
CTNNB1
 Reactome 1 / 8 71.5× 1.39e-2 8.31e-2
Interleukin-4 and Interleukin-13 signaling
MUC1, VIM
 Reactome 2 / 108 10.6× 1.51e-2 8.71e-2
HIF-1 signaling pathway
ALDOC, SLC2A1
 KEGG 2 / 110 10.4× 1.56e-2 8.91e-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 ⇵
anatomical structure morphogenesis
FREM2, EOMES, MCAM, PAX6, IGF2BP3
 GO:0009653 5 / 160 27.8× 7.87e-7 6.83e-5 ✓ sig.
cerebral cortex development
FLNA, EOMES, PAX6, SLC2A1
 GO:0021987 4 / 88 40.4× 2.58e-6 1.76e-4 ✓ sig.
epithelial cell differentiation
WT1, ALDOC, PAX6, CTNNB1
 GO:0030855 4 / 110 32.4× 6.30e-6 3.60e-4 ✓ sig.
negative regulation of apoptotic process
WT1, FLNA, POR, ANXA5, CTNNB1, PDPN
 GO:0043066 6 / 524 10.2× 1.79e-5 8.23e-4 ✓ sig.
cellular response to gonadotropin stimulus
WT1, POR
 GO:0071371 2 / 7 254× 2.52e-5 1.07e-3 ✓ sig.
cerebral cortex regionalization
EOMES, PAX6
 GO:0021796 2 / 7 254× 2.52e-5 1.07e-3 ✓ sig.
regulation of protein localization to cell surface
CTNNB1, BDNF
 GO:2000008 2 / 10 178× 5.38e-5 1.90e-3 ✓ sig.
dorsal/ventral axis specification
PAX6, CTNNB1
 GO:0009950 2 / 11 162× 6.58e-5 2.21e-3 ✓ sig.
mesenchymal to epithelial transition
WT1, CTNNB1
 GO:0060231 2 / 11 162× 6.58e-5 2.21e-3 ✓ sig.
positive regulation of epithelial cell differentiation
PAX6, CTNNB1
 GO:0030858 2 / 12 148× 7.88e-5 2.53e-3 ✓ sig.
endoderm formation
EOMES, CTNNB1
 GO:0001706 2 / 14 127× 1.09e-4 3.21e-3 ✓ sig.
wound healing, spreading of cells
FLNA, PDPN
 GO:0044319 2 / 15 119× 1.25e-4 3.58e-3 ✓ sig.
male genitalia development
WT1, CTNNB1
 GO:0030539 2 / 19 93.7× 2.03e-4 5.10e-3 ✓ sig.
positive regulation of neural precursor cell proliferation
FLNA, CTNNB1
 GO:2000179 2 / 21 84.7× 2.49e-4 5.91e-3 ✓ sig.
astrocyte differentiation
EOMES, PAX6
 GO:0048708 2 / 25 71.2× 3.55e-4 7.52e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Congenital aniridia Wagr syndrome 0.400 2 5.06e-8 3.92e-7 ✓ sig.
11p partial monosomy syndrome Drash syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Drash syndrome wilms tumor 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
denys-drash syndrome wilms tumor 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
denys-drash syndrome Drash syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Denys drash syndrome wilms tumor 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Denys drash syndrome denys-drash syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Denys drash syndrome Drash syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
11p partial monosomy syndrome Denys drash syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
11p partial monosomy syndrome denys-drash syndrome 0.500 1 6.49e-5 2.34e-4 ✓ sig.
11p partial monosomy syndrome wilms tumor 1 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Desmoplastic small round cell tumor Drash syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital aniridia wilms tumor 1 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Desmoplastic small round cell tumor wilms tumor 1 0.333 1 1.30e-4 3.90e-4 ✓ sig.
denys-drash syndrome Desmoplastic small round cell tumor 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Denys drash syndrome Desmoplastic small round cell tumor 0.333 1 1.30e-4 3.90e-4 ✓ sig.
11p partial monosomy syndrome Desmoplastic small round cell tumor 0.333 1 1.30e-4 3.90e-4 ✓ sig.
11p partial monosomy syndrome Congenital aniridia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital aniridia denys-drash syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital aniridia Drash syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Congenital aniridia Denys drash syndrome 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Drash syndrome Wagr syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Denys drash syndrome Wagr syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
11p partial monosomy syndrome Wagr syndrome 0.200 1 2.60e-4 6.40e-4 ✓ sig.
11p partial monosomy syndrome Ambiguous genitalia 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Ambiguous genitalia wilms tumor 1 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Ambiguous genitalia Schaaf-yang syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Ambiguous genitalia Drash syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Ambiguous genitalia denys-drash syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Ambiguous genitalia Denys drash syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Denys drash syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.22e-3 ✓ sig.
Drash syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.22e-3 ✓ sig.
denys-drash syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.22e-3 ✓ sig.
Peritoneal neoplasms wilms tumor 1 0.091 1 6.49e-4 1.22e-3 ✓ sig.
11p partial monosomy syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.22e-3 ✓ sig.
Autoimmune nervous system disorder Peritoneal neoplasms 0.071 1 2.60e-3 3.50e-3 ✓ sig.