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 145

9 diseases · 30 shared-gene connections
9 Diseases
18 Unique genes
0.260 Avg. similarity score
17q12 microdeletion syndrome Most-connected disease (8 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 ⇵
17q12 microdeletion syndrome 8 8 2
Bilateral multicystic dysplastic kidney 8 8 1
Giant cell tumor of tendon sheath 8 8 1
Multicystic dysplastic kidney 8 8 1
Renal dysplasia 8 8 1
Mayer-rokitansky-kuster-hauser syndrome 5 5 7
Ovarian mucinous adenocarcinoma 5 5 6
Renal cysts and diabetes syndrome 5 5 3
Uterine cancer 5 5 4

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

Gene ⇵ Member diseases ⇵ Linked diseases
HNF1B 9 / 9 17q12 microdeletion syndrome, Bilateral multicystic dysplastic kidney, Giant cell tumor of tendon sheath, Mayer-rokitansky-kuster-hauser syndrome and 5 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 ⇵
Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
CYP19A1
 Reactome 1 / 1 667× 1.50e-3 1.85e-2 ✓ sig.
Antagonism of Activin by Follistatin
INHBB
 Reactome 1 / 4 167× 5.98e-3 4.92e-2 ✓ sig.
Estrogen biosynthesis
CYP19A1
 Reactome 1 / 6 111× 8.96e-3 6.42e-2
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
GATA4
 Reactome 1 / 7 95.3× 1.04e-2 7.05e-2
Thyroid hormone signaling pathway
WNT4, GATA4
 KEGG 2 / 122 10.9× 1.41e-2 8.38e-2
Signaling by Activin
INHBB
 Reactome 1 / 11 60.7× 1.64e-2 9.17e-2
Physiological factors
GATA4
 Reactome 1 / 12 55.6× 1.78e-2 9.67e-2
Glycoprotein hormones
INHBB
 Reactome 1 / 12 55.6× 1.78e-2 9.67e-2
Signaling pathways regulating pluripotency of stem cells
WNT4, INHBB
 KEGG 2 / 144 9.3× 1.93e-2 1.01e-1
YAP1- and WWTR1 (TAZ)-stimulated gene expression
GATA4
 Reactome 1 / 14 47.7× 2.08e-2 1.05e-1
PCP/CE pathway
WNT4
 Reactome 1 / 18 37.1× 2.67e-2 1.21e-1
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
ANAPC10
 Reactome 1 / 19 35.1× 2.81e-2 1.24e-1
Phosphorylation of the APC/C
ANAPC10
 Reactome 1 / 19 35.1× 2.81e-2 1.24e-1
Inactivation of APC/C via direct inhibition of the APC/C complex
ANAPC10
 Reactome 1 / 20 33.4× 2.96e-2 1.28e-1
APC/C:Cdc20 mediated degradation of mitotic proteins
ANAPC10
 Reactome 1 / 20 33.4× 2.96e-2 1.28e-1

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
pronephros development
HNF1B, LHX1, PAX8, PAX2
 GO:0048793 4 / 7 593× 2.10e-11 7.13e-9 ✓ sig.
mesonephric tubule development
HNF1B, LHX1, WNT4, PAX8
 GO:0072164 4 / 7 593× 2.10e-11 7.13e-9 ✓ sig.
mesonephros development
LHX1, WNT4, PAX8, PAX2
 GO:0001823 4 / 13 319× 4.28e-10 1.05e-7 ✓ sig.
branching involved in ureteric bud morphogenesis
LHX1, GREB1L, WNT4, PAX8, PAX2
 GO:0001658 5 / 45 115× 5.39e-10 1.29e-7 ✓ sig.
negative regulation of mesenchymal cell apoptotic process involved in metanephros development
HNF1B, PAX8, PAX2
 GO:1900212 3 / 3 1,038× 7.50e-10 1.74e-7 ✓ sig.
paramesonephric duct development
LHX1, GREB1L, WNT4
 GO:0061205 3 / 4 779× 3.00e-9 5.90e-7 ✓ sig.
mesonephric duct development
HNF1B, LHX1, GREB1L
 GO:0072177 3 / 6 519× 1.50e-8 2.43e-6 ✓ sig.
metanephros development
LHX1, GREB1L, WNT4, PAX8
 GO:0001656 4 / 38 109× 4.36e-8 6.03e-6 ✓ sig.
kidney development
HNF1B, LHX1, GREB1L, WNT4, PAX8
 GO:0001822 5 / 146 35.6× 2.15e-7 2.30e-5 ✓ sig.
urogenital system development
LHX1, PAX8, PAX2
 GO:0001655 3 / 17 183× 5.06e-7 4.72e-5 ✓ sig.
metanephric comma-shaped body morphogenesis
LHX1, PAX8
 GO:0072278 2 / 2 1,038× 8.76e-7 7.44e-5 ✓ sig.
pronephric field specification
PAX8, PAX2
 GO:0039003 2 / 2 1,038× 8.76e-7 7.44e-5 ✓ sig.
negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
PAX8, PAX2
 GO:0072305 2 / 2 1,038× 8.76e-7 7.44e-5 ✓ sig.
negative regulation of apoptotic process involved in metanephric collecting duct development
PAX8, PAX2
 GO:1900215 2 / 2 1,038× 8.76e-7 7.44e-5 ✓ sig.
negative regulation of apoptotic process involved in metanephric nephron tubule development
PAX8, PAX2
 GO:1900218 2 / 2 1,038× 8.76e-7 7.44e-5 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Bilateral multicystic dysplastic kidney Renal dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Bilateral multicystic dysplastic kidney Giant cell tumor of tendon sheath 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Bilateral multicystic dysplastic kidney Multicystic dysplastic kidney 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Multicystic dysplastic kidney Renal dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Giant cell tumor of tendon sheath Renal dysplasia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Giant cell tumor of tendon sheath Multicystic dysplastic kidney 0.500 1 6.49e-5 2.34e-4 ✓ sig.
17q12 microdeletion syndrome Renal dysplasia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
17q12 microdeletion syndrome Giant cell tumor of tendon sheath 0.333 1 1.30e-4 3.90e-4 ✓ sig.
17q12 microdeletion syndrome Multicystic dysplastic kidney 0.333 1 1.30e-4 3.90e-4 ✓ sig.
17q12 microdeletion syndrome Bilateral multicystic dysplastic kidney 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Renal cysts and diabetes syndrome Renal dysplasia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Multicystic dysplastic kidney Renal cysts and diabetes syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Giant cell tumor of tendon sheath Renal cysts and diabetes syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Bilateral multicystic dysplastic kidney Renal cysts and diabetes syndrome 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Multicystic dysplastic kidney Uterine cancer 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Giant cell tumor of tendon sheath Uterine cancer 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Renal dysplasia Uterine cancer 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Bilateral multicystic dysplastic kidney Uterine cancer 0.200 1 2.60e-4 6.40e-4 ✓ sig.
17q12 microdeletion syndrome Renal cysts and diabetes syndrome 0.200 1 3.90e-4 8.52e-4 ✓ sig.
Bilateral multicystic dysplastic kidney Ovarian mucinous adenocarcinoma 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Ovarian mucinous adenocarcinoma Renal dysplasia 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Giant cell tumor of tendon sheath Ovarian mucinous adenocarcinoma 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Multicystic dysplastic kidney Ovarian mucinous adenocarcinoma 0.143 1 3.90e-4 8.52e-4 ✓ sig.
Mayer-rokitansky-kuster-hauser syndrome Multicystic dysplastic kidney 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Giant cell tumor of tendon sheath Mayer-rokitansky-kuster-hauser syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Mayer-rokitansky-kuster-hauser syndrome Renal dysplasia 0.125 1 4.55e-4 9.55e-4 ✓ sig.
Bilateral multicystic dysplastic kidney Mayer-rokitansky-kuster-hauser syndrome 0.125 1 4.55e-4 9.55e-4 ✓ sig.
17q12 microdeletion syndrome Uterine cancer 0.167 1 5.19e-4 1.04e-3 ✓ sig.
17q12 microdeletion syndrome Ovarian mucinous adenocarcinoma 0.125 1 7.79e-4 1.39e-3 ✓ sig.
17q12 microdeletion syndrome Mayer-rokitansky-kuster-hauser syndrome 0.111 1 9.09e-4 1.56e-3 ✓ sig.