Disease Clusters | GeDiPNet

← Back to all clusters

Cluster 106

12 diseases · 27 shared-gene connections

12 Diseases

17 Unique genes

0.301 Avg. similarity score

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Most-connected disease (7 links)

Significant edges only (q < 0.05) Spacing Colour by

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.

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Yorifuji okuno syndrome Chromosome 8p23.1 monosomy Congenital pulmonary valve atresia Partial atrioventricular canal defect Testicular anomaly with congenital heart disease

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	7	7	2
Yorifuji okuno syndrome	7	7	4
Chromosome 8p23.1 monosomy	6	6	1
Congenital pulmonary valve atresia	6	6	1
Partial atrioventricular canal defect	6	6	2
Testicular anomaly with congenital heart disease	6	6	1
Atrioventricular septal defect	5	5	12
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	5	5	1
Very long chain acyl-coa dehydrogenase deficiency	2	2	4
Vulto-van silfhout-de vries syndrome	2	2	2
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	1	1	1
holt-oram syndrome	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
GATA4	8 / 12	Atrioventricular septal defect, Chromosome 8p23.1 monosomy, Congenital pulmonary valve atresia, GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes and 4 more
DLG4	3 / 12	Very long chain acyl-coa dehydrogenase deficiency, Vulto-van silfhout-de vries syndrome, Yorifuji okuno syndrome
GATA6	3 / 12	Atrioventricular septal defect, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Yorifuji okuno syndrome
ACADVL	2 / 12	Very long chain acyl-coa dehydrogenase deficiency, Yorifuji okuno syndrome
CRELD1	2 / 12	Atrioventricular septal defect, Partial atrioventricular canal defect
MEF2C	2 / 12	Atrioventricular septal defect, Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome
TBX5	2 / 12	Atrioventricular septal defect, holt-oram 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 ⇵
Physiological factors GATA4, TBX5	Reactome	2 / 12	118×	1.23e-4	2.66e-3 ✓ sig.
YAP1- and WWTR1 (TAZ)-stimulated gene expression GATA4, TBX5	Reactome	2 / 14	101×	1.70e-4	3.44e-3 ✓ sig.
Fatty acid degradation ACADL, ACADVL	KEGG	2 / 43	32.9×	1.65e-3	1.98e-2 ✓ sig.
Fatty acid metabolism ACADL, ACADVL	KEGG	2 / 57	24.8×	2.88e-3	2.99e-2 ✓ sig.
Regulation of gap junction activity GJA1	Reactome	1 / 3	235×	4.24e-3	3.93e-2 ✓ sig.
Beta oxidation of myristoyl-CoA to lauroyl-CoA ACADL	Reactome	1 / 3	235×	4.24e-3	3.93e-2 ✓ sig.
Beta oxidation of palmitoyl-CoA to myristoyl-CoA ACADVL	Reactome	1 / 3	235×	4.24e-3	3.93e-2 ✓ sig.
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA ACADL	Reactome	1 / 5	141×	7.06e-3	5.49e-2
Factors involved in megakaryocyte development and platelet production GATA4, GATA6	Reactome	2 / 99	14.3×	8.44e-3	6.18e-2
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids ACADL	Reactome	1 / 6	118×	8.46e-3	6.20e-2
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) GATA4	Reactome	1 / 7	101×	9.87e-3	6.81e-2
RHO GTPases activate CIT DLG4	Reactome	1 / 8	88.3×	1.13e-2	7.36e-2
WNT mediated activation of DVL DVL2	Reactome	1 / 9	78.5×	1.27e-2	7.87e-2
Formation of annular gap junctions GJA1	Reactome	1 / 11	64.2×	1.55e-2	8.86e-2
WNT5:FZD7-mediated leishmania damping DVL2	Reactome	1 / 12	58.9×	1.69e-2	9.37e-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 ⇵
atrioventricular canal development CHD7, GATA4, GATA6	GO:0036302	3 / 11	300×	1.03e-7	1.24e-5 ✓ sig.
endocardial cushion development GATA4, TBX5, CRELD1	GO:0003197	3 / 13	254×	1.78e-7	1.96e-5 ✓ sig.
regulation of DNA-templated transcription CHD7, FOXP1, GATA4, GATA6, NR1D2, TBX5, MEF2C, NR2F2, DVL2	GO:0006355	9 / 1,454	6.8×	1.40e-6	1.08e-4 ✓ sig.
cardiac muscle cell differentiation GATA4, GATA6, TBX5	GO:0055007	3 / 30	110×	2.50e-6	1.72e-4 ✓ sig.
positive regulation of DNA-templated transcription GATA4, GATA6, NR1D2, TBX5, MEF2C, NR2F2, DEAF1	GO:0045893	7 / 778	9.9×	2.85e-6	1.91e-4 ✓ sig.
positive regulation of cardiac muscle cell proliferation GATA6, TBX5, MEF2C	GO:0060045	3 / 32	103×	3.05e-6	2.02e-4 ✓ sig.
heart development GATA4, TBX5, GJA1, MEF2C, DVL2	GO:0007507	5 / 273	20.1×	3.44e-6	2.23e-4 ✓ sig.
positive regulation of transcription by RNA polymerase II CHD7, GATA4, GATA6, NR1D2, TBX5, MEF2C, NR2F2, DVL2	GO:0045944	8 / 1,208	7.3×	4.28e-6	2.65e-4 ✓ sig.
NMDA selective glutamate receptor signaling pathway MEF2C, DLG4	GO:0098989	2 / 6	366×	1.17e-5	5.87e-4 ✓ sig.
atrioventricular node development GATA4, GATA6	GO:0003162	2 / 6	366×	1.17e-5	5.87e-4 ✓ sig.
negative regulation of transcription by RNA polymerase II FOXP1, GATA4, GATA6, NR1D2, MEF2C, NR2F2, DEAF1	GO:0000122	7 / 1,002	7.7×	1.51e-5	7.22e-4 ✓ sig.
sinoatrial node development GATA6, TBX5	GO:0003163	2 / 8	275×	2.17e-5	9.59e-4 ✓ sig.
positive regulation of neuron projection arborization DLG4, DVL2	GO:0150012	2 / 8	275×	2.17e-5	9.59e-4 ✓ sig.
outflow tract morphogenesis ELN, MEF2C, DVL2	GO:0003151	3 / 63	52.3×	2.40e-5	1.03e-3 ✓ sig.
heart looping GATA4, MEF2C, DVL2	GO:0001947	3 / 64	51.5×	2.52e-5	1.07e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Yorifuji okuno syndrome	0.400	2	5.06e-8	3.92e-7 ✓ sig.
Very long chain acyl-coa dehydrogenase deficiency	Yorifuji okuno syndrome	0.286	2	3.04e-7	2.06e-6 ✓ sig.
Atrioventricular septal defect	Partial atrioventricular canal defect	0.154	2	5.57e-7	3.60e-6 ✓ sig.
Atrioventricular septal defect	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	0.154	2	5.57e-7	3.60e-6 ✓ sig.
Atrioventricular septal defect	Yorifuji okuno syndrome	0.133	2	3.34e-6	1.89e-5 ✓ sig.
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	Testicular anomaly with congenital heart disease	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Congenital pulmonary valve atresia	GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Congenital pulmonary valve atresia	Testicular anomaly with congenital heart disease	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Chromosome 8p23.1 monosomy	GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Chromosome 8p23.1 monosomy	Congenital pulmonary valve atresia	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Chromosome 8p23.1 monosomy	Testicular anomaly with congenital heart disease	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Chromosome 8p23.1 monosomy	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Partial atrioventricular canal defect	Testicular anomaly with congenital heart disease	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Testicular anomaly with congenital heart disease	0.333	1	1.30e-4	3.90e-4 ✓ sig.
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	Partial atrioventricular canal defect	0.333	1	1.30e-4	3.90e-4 ✓ sig.
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital pulmonary valve atresia	Partial atrioventricular canal defect	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital pulmonary valve atresia	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Chromosome 8p23.1 monosomy	Partial atrioventricular canal defect	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Partial atrioventricular canal defect	0.250	1	2.60e-4	6.40e-4 ✓ sig.
Chromosome 8p23.1 monosomy	Yorifuji okuno syndrome	0.200	1	2.60e-4	6.40e-4 ✓ sig.
Congenital pulmonary valve atresia	Yorifuji okuno syndrome	0.200	1	2.60e-4	6.40e-4 ✓ sig.
Testicular anomaly with congenital heart disease	Yorifuji okuno syndrome	0.200	1	2.60e-4	6.40e-4 ✓ sig.
Very long chain acyl-coa dehydrogenase deficiency	Vulto-van silfhout-de vries syndrome	0.167	1	5.19e-4	1.04e-3 ✓ sig.
Vulto-van silfhout-de vries syndrome	Yorifuji okuno syndrome	0.167	1	5.19e-4	1.04e-3 ✓ sig.
Atrioventricular septal defect	holt-oram syndrome	0.077	1	7.79e-4	1.39e-3 ✓ sig.
Atrioventricular septal defect	Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	0.077	1	7.79e-4	1.39e-3 ✓ sig.

Disease Clusters?