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 31

17 diseases · 39 shared-gene connections
17 Diseases
61 Unique genes
0.247 Avg. similarity score
11p partial monosomy syndrome Most-connected disease (8 links)
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Disease Searched: 11p partial monosomy 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 ⇵
11p partial monosomy syndrome 8 8 1
Congenital aniridia 8 8 2
Denys drash syndrome 8 8 1
Drash syndrome 8 8 1
Desmoplastic small round cell tumor 7 7 2
Wagr syndrome 7 7 4
wilms tumor 1 7 7 1
Ambiguous genitalia 5 5 5
Peritoneal neoplasms 5 5 10
Aniridia 3 3 9
Wilms tumor 3 3 32
Angiomatoid fibrous histiocytoma 2 2 2
Ewing sarcoma 2 2 5
Ocular dysgenesis 2 2 1
Autoimmune nervous system disorder 1 1 4
Schaaf-yang syndrome 1 1 1
Shukla-vernon syndrome 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
WT1 11 / 17 11p partial monosomy syndrome, Ambiguous genitalia, Aniridia, Congenital aniridia and 7 more
PAX6 4 / 17 Aniridia, Congenital aniridia, Wagr syndrome, Wilms tumor
ELP4 3 / 17 Aniridia, Ocular dysgenesis, Wagr syndrome
EWSR1 3 / 17 Angiomatoid fibrous histiocytoma, Desmoplastic small round cell tumor, Ewing sarcoma
BCORL1 2 / 17 Shukla-vernon syndrome, Wilms tumor
CTNNB1 2 / 17 Peritoneal neoplasms, Wilms tumor
MAGEL2 2 / 17 Ambiguous genitalia, Schaaf-yang syndrome
MCAM 2 / 17 Autoimmune nervous system disorder, Peritoneal neoplasms
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 ⇵
MicroRNA (miRNA) biogenesis
DGCR8, DICER1, DROSHA, XPO5
 Reactome 4 / 24 32.8× 5.93e-6 2.11e-4 ✓ sig.
Transcriptional misregulation in cancer
WT1, EWSR1, MAX, MLLT1, MYCN, SIX1, TP53
 KEGG 7 / 198 7.0× 6.11e-5 1.46e-3 ✓ sig.
Proteoglycans in cancer
FLNA, CTNNB1, DROSHA, GPC3, IGF2, TP53
 KEGG 6 / 204 5.8× 5.69e-4 8.71e-3 ✓ sig.
NGF-stimulated transcription
CREB1, EGR2, REST
 Reactome 3 / 35 16.9× 7.27e-4 1.05e-2 ✓ sig.
MAPK signaling pathway
FLNA, EPHA2, BDNF, IGF2, MAP3K4, MAX, TP53
 KEGG 7 / 299 4.6× 7.62e-4 1.09e-2 ✓ sig.
Polycomb repressive complex
BCORL1, ASXL1, BCOR, MAX
 KEGG 4 / 83 9.5× 8.20e-4 1.15e-2 ✓ sig.
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
FOXD3, SOX2
 Reactome 2 / 13 30.3× 1.91e-3 2.21e-2 ✓ sig.
Interleukin-4 and Interleukin-13 signaling
SOX2, MUC1, VIM, TP53
 Reactome 4 / 108 7.3× 2.18e-3 2.42e-2 ✓ sig.
Defective EXT2 causes exostoses 2
GPC3, GPC4
 Reactome 2 / 14 28.1× 2.22e-3 2.46e-2 ✓ sig.
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
GPC3, GPC4
 Reactome 2 / 14 28.1× 2.22e-3 2.46e-2 ✓ sig.
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
PAX6, CTNNB1
 Reactome 2 / 14 28.1× 2.22e-3 2.46e-2 ✓ sig.
Misspliced GSK3beta mutants stabilize beta-catenin
CTNNB1, AMER1
 Reactome 2 / 15 26.3× 2.55e-3 2.73e-2 ✓ sig.
S33 mutants of beta-catenin aren't phosphorylated
CTNNB1, AMER1
 Reactome 2 / 15 26.3× 2.55e-3 2.73e-2 ✓ sig.
S37 mutants of beta-catenin aren't phosphorylated
CTNNB1, AMER1
 Reactome 2 / 15 26.3× 2.55e-3 2.73e-2 ✓ sig.
S45 mutants of beta-catenin aren't phosphorylated
CTNNB1, AMER1
 Reactome 2 / 15 26.3× 2.55e-3 2.73e-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 ⇵
positive regulation of DNA-templated transcription
WT1, CREB1, FOXC1, PAX6, PITX2, SOX2, TRIM44, EOMES, EGR2, CTNNB1, ARID1A, BRCA2
 GO:0045893 20 / 778 7.9× 2.40e-13 1.23e-10 ✓ sig.
anatomical structure morphogenesis
FREM2, FOXC1, FOXD3, PAX6, PITX2, EOMES, MCAM, IGF2BP3, GPC3, SIX2
 GO:0009653 10 / 160 19.1× 9.89e-11 2.91e-8 ✓ sig.
negative regulation of transcription by RNA polymerase II
WT1, MAGEL2, FOXC1, FOXD3, PAX6, PITX2, SOX2, EOMES, CTNNB1, BCORL1, BCOR, DICER1
 GO:0000122 19 / 1,002 5.8× 2.11e-10 5.75e-8 ✓ sig.
regulation of DNA-templated transcription
WT1, CREB1, EWSR1, FOXC1, FOXD3, PAX6, PITX2, SOX2, EOMES, EGR2, ASXL1, BRCA2
 GO:0006355 22 / 1,454 4.6× 3.94e-10 9.87e-8 ✓ sig.
positive regulation of transcription by RNA polymerase II
WT1, CREB1, FOXC1, FOXD3, PAX6, PITX2, SOX2, EOMES, EGR2, CTNNB1, MUC1, ASXL1
 GO:0045944 19 / 1,208 4.8× 4.78e-9 8.82e-7 ✓ sig.
kidney development
WT1, FREM2, FOXC1, CTNNB1, AMER1, GPC3, SIX1, SIX2
 GO:0001822 8 / 146 16.8× 2.38e-8 3.58e-6 ✓ sig.
epithelial cell differentiation
WT1, EPHA2, PAX6, ALDOC, CTNNB1, SIX1, SIX2
 GO:0030855 7 / 110 19.5× 6.78e-8 8.62e-6 ✓ sig.
regulation of gene expression
PAX6, SOX2, TRIM44, EOMES, CTNNB1, DROSHA, MAP3K4, REST, SIX1, VHL
 GO:0010468 10 / 402 7.6× 6.44e-7 5.77e-5 ✓ sig.
negative regulation of apoptotic process
WT1, FLNA, POR, CREB1, ANXA5, CTNNB1, PDPN, NONO, SIX1, TP53, VHL
 GO:0043066 11 / 524 6.4× 8.92e-7 7.53e-5 ✓ sig.
pituitary gland development
CREB1, PAX6, PITX2, SOX2
 GO:0021983 4 / 30 40.8× 2.64e-6 1.81e-4 ✓ sig.
miRNA metabolic process
DICER1, DROSHA, XPO5
 GO:0010586 3 / 12 76.6× 7.13e-6 4.03e-4 ✓ sig.
regulation of transcription by RNA polymerase II
WT1, CREB1, ELP4, FOXC1, FOXD3, PAX6, PITX2, EOMES, EGR2, CTNNB1, ARID1A, MAX
 GO:0006357 17 / 1,602 3.3× 9.36e-6 5.01e-4 ✓ sig.
mesenchymal cell differentiation involved in kidney development
AMER1, SIX2
 GO:0072161 2 / 2 306× 1.05e-5 5.45e-4 ✓ sig.
branching involved in ureteric bud morphogenesis
WT1, CTNNB1, GPC3, SIX1
 GO:0001658 4 / 45 27.2× 1.39e-5 6.79e-4 ✓ sig.
in utero embryonic development
FOXC1, FOXD3, PITX2, CTNNB1, IGF2, TP53, TRIM28
 GO:0001701 7 / 252 8.5× 1.75e-5 8.12e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Aniridia Wagr syndrome 0.273 3 5.52e-10 5.12e-9 ✓ sig.
Congenital aniridia Wagr syndrome 0.400 2 5.06e-8 3.71e-7 ✓ sig.
Aniridia Congenital aniridia 0.200 2 3.04e-7 1.95e-6 ✓ sig.
Congenital aniridia Wilms tumor 0.061 2 4.18e-6 2.20e-5 ✓ sig.
Wagr syndrome Wilms tumor 0.057 2 2.50e-5 1.17e-4 ✓ sig.
Denys drash syndrome wilms tumor 1 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Drash syndrome wilms tumor 1 0.500 1 6.49e-5 2.33e-4 ✓ sig.
11p partial monosomy syndrome Denys drash syndrome 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Denys drash syndrome Drash syndrome 0.500 1 6.49e-5 2.33e-4 ✓ sig.
11p partial monosomy syndrome Drash syndrome 0.500 1 6.49e-5 2.33e-4 ✓ sig.
11p partial monosomy syndrome wilms tumor 1 0.500 1 6.49e-5 2.33e-4 ✓ sig.
11p partial monosomy syndrome Congenital aniridia 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Desmoplastic small round cell tumor wilms tumor 1 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Desmoplastic small round cell tumor Drash syndrome 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Denys drash syndrome Desmoplastic small round cell tumor 0.333 1 1.30e-4 3.93e-4 ✓ sig.
11p partial monosomy syndrome Desmoplastic small round cell tumor 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Congenital aniridia wilms tumor 1 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Congenital aniridia Denys drash syndrome 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Congenital aniridia Drash syndrome 0.333 1 1.30e-4 3.93e-4 ✓ sig.
Congenital aniridia Desmoplastic small round cell tumor 0.250 1 2.60e-4 6.51e-4 ✓ sig.
Angiomatoid fibrous histiocytoma Desmoplastic small round cell tumor 0.250 1 2.60e-4 6.51e-4 ✓ sig.
Ocular dysgenesis Wagr syndrome 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Drash syndrome Wagr syndrome 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Denys drash syndrome Wagr syndrome 0.200 1 2.60e-4 6.51e-4 ✓ sig.
11p partial monosomy syndrome Wagr syndrome 0.200 1 2.60e-4 6.51e-4 ✓ sig.
11p partial monosomy syndrome Ambiguous genitalia 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Ambiguous genitalia Denys drash syndrome 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Ambiguous genitalia Drash syndrome 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Ambiguous genitalia wilms tumor 1 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Ambiguous genitalia Schaaf-yang syndrome 0.167 1 3.25e-4 7.70e-4 ✓ sig.
Aniridia Ocular dysgenesis 0.100 1 5.84e-4 1.16e-3 ✓ sig.
Angiomatoid fibrous histiocytoma Ewing sarcoma 0.143 1 6.49e-4 1.24e-3 ✓ sig.
Desmoplastic small round cell tumor Ewing sarcoma 0.143 1 6.49e-4 1.24e-3 ✓ sig.
Peritoneal neoplasms wilms tumor 1 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Drash syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Denys drash syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.24e-3 ✓ sig.
11p partial monosomy syndrome Peritoneal neoplasms 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Shukla-vernon syndrome Wilms tumor 0.030 1 2.08e-3 2.97e-3 ✓ sig.
Autoimmune nervous system disorder Peritoneal neoplasms 0.071 1 2.60e-3 3.51e-3 ✓ sig.