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Cluster 166

9 diseases · 19 shared-gene connections

9 Diseases

13 Unique genes

0.283 Avg. similarity score

Congenital asplenia Most-connected disease (6 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.

Congenital asplenia Interrupted aortic arch NKX2.5-related congenital, conduction and myopathic heart disease Deletion 5q35 syndrome Myotonic dystrophy Splenic hypoplasia

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Congenital asplenia	6	6	2
Interrupted aortic arch	6	6	1
NKX2.5-related congenital, conduction and myopathic heart disease	6	6	1
Deletion 5q35 syndrome	5	5	2
Myotonic dystrophy	5	5	5
Splenic hypoplasia	5	5	2
Asplenia	2	2	1
Congenital septal defect of heart	2	2	7
Congenital-onset steinert myotonic dystrophy	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
NKX2-5	7 / 9	Congenital asplenia, Congenital septal defect of heart, Deletion 5q35 syndrome, Interrupted aortic arch and 3 more
RPSA	3 / 9	Asplenia, Congenital asplenia, Splenic hypoplasia
DMPK	2 / 9	Congenital-onset steinert myotonic dystrophy, Myotonic dystrophy

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 MTRR causes methylmalonic aciduria and homocystinuria type cblE MTRR	Reactome	1 / 2	462×	2.16e-3	2.42e-2 ✓ sig.
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG MTRR	Reactome	1 / 2	462×	2.16e-3	2.42e-2 ✓ sig.
TFAP2 (AP-2) family regulates transcription of other transcription factors CITED2	Reactome	1 / 4	231×	4.32e-3	3.98e-2 ✓ sig.
NGF processing PCSK5	Reactome	1 / 4	231×	4.32e-3	3.98e-2 ✓ sig.
Sulfur amino acid metabolism MTRR	Reactome	1 / 6	154×	6.48e-3	5.19e-2
FOXO-mediated transcription of cell death genes CITED2	Reactome	1 / 9	103×	9.70e-3	6.74e-2
Regulation of gene expression by Hypoxia-inducible Factor CITED2	Reactome	1 / 11	84.0×	1.18e-2	7.60e-2
Assembly of active LPL and LIPC lipase complexes PCSK5	Reactome	1 / 11	84.0×	1.18e-2	7.60e-2
Activation of the TFAP2 (AP-2) family of transcription factors CITED2	Reactome	1 / 12	77.0×	1.29e-2	7.95e-2
Physiological factors NKX2-5	Reactome	1 / 12	77.0×	1.29e-2	7.95e-2
YAP1- and WWTR1 (TAZ)-stimulated gene expression NKX2-5	Reactome	1 / 14	66.0×	1.51e-2	8.71e-2
Methylation MTRR	Reactome	1 / 14	66.0×	1.51e-2	8.71e-2
Cobalamin transport and metabolism MTRR	KEGG	1 / 18	51.3×	1.93e-2	1.01e-1
Cobalamin (Cbl, vitamin B12) transport and metabolism MTRR	Reactome	1 / 21	44.0×	2.25e-2	1.10e-1
Signaling by BMP BMPR2	Reactome	1 / 28	33.0×	2.99e-2	1.29e-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 ⇵
endocardial cushion development BMPR2, CITED2, CRELD1	GO:0003197	3 / 13	332×	7.49e-8	9.46e-6 ✓ sig.
outflow tract morphogenesis BMPR2, CITED2, NKX2-5, TBX2	GO:0003151	4 / 63	91.3×	8.20e-8	1.02e-5 ✓ sig.
cardiac muscle tissue development BMPR2, NKX2-5, TBX2	GO:0048738	3 / 24	180×	5.28e-7	4.89e-5 ✓ sig.
outflow tract septum morphogenesis BMPR2, NKX2-5, TBX2	GO:0003148	3 / 28	154×	8.53e-7	7.28e-5 ✓ sig.
ventricular septum morphogenesis BMPR2, CITED2, NKX2-5	GO:0060412	3 / 41	105×	2.76e-6	1.86e-4 ✓ sig.
embryonic heart tube left/right pattern formation CITED2, NKX2-5	GO:0060971	2 / 6	479×	6.69e-6	3.78e-4 ✓ sig.
heart looping CITED2, NKX2-5, TBX2	GO:0001947	3 / 64	67.4×	1.07e-5	5.49e-4 ✓ sig.
atrial septum morphogenesis BMPR2, NKX2-5	GO:0060413	2 / 13	221×	3.47e-5	1.37e-3 ✓ sig.
embryonic camera-type eye morphogenesis CITED2, TBX2	GO:0048596	2 / 15	192×	4.67e-5	1.71e-3 ✓ sig.
cardiac septum morphogenesis CITED2, NKX2-5	GO:0060411	2 / 16	180×	5.33e-5	1.89e-3 ✓ sig.
pharyngeal system development NKX2-5, TBX2	GO:0060037	2 / 21	137×	9.31e-5	2.87e-3 ✓ sig.
positive regulation of DNA-templated transcription CITED2, NKX2-5, TBX2, NSD1, CNBP	GO:0045893	5 / 778	9.2×	1.20e-4	3.47e-3 ✓ sig.
embryonic heart tube development NKX2-5, TBX2	GO:0035050	2 / 26	111×	1.44e-4	3.97e-3 ✓ sig.
vasculature development BMPR2, CITED2	GO:0001944	2 / 33	87.1×	2.33e-4	5.62e-3 ✓ sig.
regulation of heart contraction DMPK, TBX2	GO:0008016	2 / 36	79.9×	2.78e-4	6.35e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Congenital asplenia	Splenic hypoplasia	0.667	2	8.44e-9	7.20e-8 ✓ sig.
Interrupted aortic arch	NKX2.5-related congenital, conduction and myopathic heart disease	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Deletion 5q35 syndrome	Interrupted aortic arch	0.333	1	1.30e-4	3.90e-4 ✓ sig.
NKX2.5-related congenital, conduction and myopathic heart disease	Splenic hypoplasia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Interrupted aortic arch	Splenic hypoplasia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Deletion 5q35 syndrome	NKX2.5-related congenital, conduction and myopathic heart disease	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Asplenia	Congenital asplenia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital asplenia	NKX2.5-related congenital, conduction and myopathic heart disease	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital asplenia	Interrupted aortic arch	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Asplenia	Splenic hypoplasia	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Congenital asplenia	Deletion 5q35 syndrome	0.250	1	2.60e-4	6.40e-4 ✓ sig.
Deletion 5q35 syndrome	Splenic hypoplasia	0.250	1	2.60e-4	6.40e-4 ✓ sig.
Congenital-onset steinert myotonic dystrophy	Myotonic dystrophy	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Interrupted aortic arch	Myotonic dystrophy	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Myotonic dystrophy	NKX2.5-related congenital, conduction and myopathic heart disease	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Congenital septal defect of heart	NKX2.5-related congenital, conduction and myopathic heart disease	0.125	1	4.55e-4	9.55e-4 ✓ sig.
Congenital septal defect of heart	Interrupted aortic arch	0.125	1	4.55e-4	9.55e-4 ✓ sig.
Deletion 5q35 syndrome	Myotonic dystrophy	0.143	1	6.49e-4	1.22e-3 ✓ sig.
Congenital asplenia	Myotonic dystrophy	0.143	1	6.49e-4	1.22e-3 ✓ sig.

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