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Cluster 188

8 diseases · 13 shared-gene connections

8 Diseases

18 Unique genes

0.267 Avg. similarity score

Stress urinary incontinence Most-connected disease (5 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: congenital heart defects, multiple types, 2 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.

congenital heart defects, multiple types, 2 Stress urinary incontinence Bicuspid aortic valve Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation Chromosome 6q24-q25 deletion syndrome Ritscher-schinzler syndrome

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Stress urinary incontinence	5	5	2
Bicuspid aortic valve	4	4	14
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	4	4	1
Chromosome 6q24-q25 deletion syndrome	4	4	1
congenital heart defects, multiple types, 2	4	4	1
Ritscher-schinzler syndrome	2	2	4
hereditary spastic paraplegia 8	2	2	1
aortic valve disease 3	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
TAB2	5 / 8	Bicuspid aortic valve, Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation, Chromosome 6q24-q25 deletion syndrome, congenital heart defects, multiple types, 2 and 1 more
WASHC5	3 / 8	hereditary spastic paraplegia 8, Ritscher-schinzler syndrome, Stress urinary incontinence
ROBO4	2 / 8	aortic valve disease 3, Bicuspid aortic valve

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 ⇵
Apoptotic cleavage of cell adhesion proteins DSG1, DSP	Reactome	2 / 11	121×	1.16e-4	2.60e-3 ✓ sig.
Formation of ATP by chemiosmotic coupling ATP6, ATP8	Reactome	2 / 18	74.1×	3.20e-4	5.81e-3 ✓ sig.
Cristae formation ATP6, ATP8	Reactome	2 / 18	74.1×	3.20e-4	5.81e-3 ✓ sig.
Defective SLC2A10 causes arterial tortuosity syndrome (ATS) SLC2A10	Reactome	1 / 1	667×	1.50e-3	1.92e-2 ✓ sig.
Defective LFNG causes SCDO3 NOTCH1	Reactome	1 / 5	133×	7.47e-3	5.89e-2
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling NOTCH1	Reactome	1 / 5	133×	7.47e-3	5.89e-2
Prion disease ATP6, ATP8, NOTCH1	KEGG	3 / 275	7.3×	7.51e-3	5.90e-2
Pre-NOTCH Processing in Golgi NOTCH1	Reactome	1 / 6	111×	8.96e-3	6.62e-2
RUNX2 regulates bone development SMAD6	Reactome	1 / 7	95.3×	1.04e-2	7.29e-2
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant NOTCH1	Reactome	1 / 7	95.3×	1.04e-2	7.29e-2
IRAK2 mediated activation of TAK1 complex TAB2	Reactome	1 / 10	66.7×	1.49e-2	9.00e-2
Activated NOTCH1 Transmits Signal to the Nucleus NOTCH1	Reactome	1 / 10	66.7×	1.49e-2	9.00e-2
Formation of the cornified envelope DSG1, DSP	Reactome	2 / 130	10.3×	1.59e-2	9.38e-2
TICAM1,TRAF6-dependent induction of TAK1 complex TAB2	Reactome	1 / 11	60.7×	1.64e-2	9.53e-2
Alpha-protein kinase 1 signaling pathway TAB2	Reactome	1 / 11	60.7×	1.64e-2	9.53e-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 ⇵
aortic valve morphogenesis GATA5, NOTCH1, SMAD6, NKX2-5	GO:0003180	4 / 37	112×	3.90e-8	5.53e-6 ✓ sig.
atrioventricular node development NOTCH1, NKX2-5	GO:0003162	2 / 6	346×	1.31e-5	6.67e-4 ✓ sig.
cardiac ventricle morphogenesis NOTCH1, NKX2-5	GO:0003208	2 / 10	208×	3.93e-5	1.55e-3 ✓ sig.
cardiac muscle tissue morphogenesis NOTCH1, NKX2-5	GO:0055008	2 / 13	160×	6.79e-5	2.34e-3 ✓ sig.
ventricular trabecula myocardium morphogenesis NOTCH1, NKX2-5	GO:0003222	2 / 15	138×	9.13e-5	2.94e-3 ✓ sig.
cardiac septum morphogenesis NOTCH1, NKX2-5	GO:0060411	2 / 16	130×	1.04e-4	3.23e-3 ✓ sig.
heart development GATA5, NOTCH1, TAB2, NKX2-5	GO:0007507	4 / 273	15.2×	1.16e-4	3.48e-3 ✓ sig.
pulmonary valve morphogenesis NOTCH1, SMAD6	GO:0003184	2 / 18	115×	1.33e-4	3.86e-3 ✓ sig.
negative regulation of cardiac muscle hypertrophy GATA5, NOTCH1	GO:0010614	2 / 18	115×	1.33e-4	3.86e-3 ✓ sig.
negative regulation of myotube differentiation NOTCH1, NKX2-5	GO:0010832	2 / 18	115×	1.33e-4	3.86e-3 ✓ sig.
proton motive force-driven ATP synthesis ATP6, ATP8	GO:0015986	2 / 23	90.3×	2.19e-4	5.54e-3 ✓ sig.
cardiac muscle tissue development GATA5, NKX2-5	GO:0048738	2 / 24	86.5×	2.39e-4	5.91e-3 ✓ sig.
cardiac muscle cell development MYH11, NKX2-5	GO:0055013	2 / 25	83.1×	2.59e-4	6.27e-3 ✓ sig.
ATP biosynthetic process ATP6, ATP8	GO:0006754	2 / 26	79.9×	2.81e-4	6.63e-3 ✓ sig.
negative regulation of ossification NOTCH1, SMAD6	GO:0030279	2 / 27	76.9×	3.03e-4	7.02e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	Chromosome 6q24-q25 deletion syndrome	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	congenital heart defects, multiple types, 2	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Chromosome 6q24-q25 deletion syndrome	congenital heart defects, multiple types, 2	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	Stress urinary incontinence	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Chromosome 6q24-q25 deletion syndrome	Stress urinary incontinence	0.333	1	1.30e-4	3.93e-4 ✓ sig.
congenital heart defects, multiple types, 2	Stress urinary incontinence	0.333	1	1.30e-4	3.93e-4 ✓ sig.
hereditary spastic paraplegia 8	Stress urinary incontinence	0.333	1	1.30e-4	3.93e-4 ✓ sig.
hereditary spastic paraplegia 8	Ritscher-schinzler syndrome	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Ritscher-schinzler syndrome	Stress urinary incontinence	0.167	1	5.19e-4	1.06e-3 ✓ sig.
aortic valve disease 3	Bicuspid aortic valve	0.067	1	9.09e-4	1.58e-3 ✓ sig.
Bicuspid aortic valve	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	0.067	1	9.09e-4	1.58e-3 ✓ sig.
Bicuspid aortic valve	Chromosome 6q24-q25 deletion syndrome	0.067	1	9.09e-4	1.58e-3 ✓ sig.
Bicuspid aortic valve	congenital heart defects, multiple types, 2	0.067	1	9.09e-4	1.58e-3 ✓ sig.

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