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Cluster 491

6 diseases · 15 shared-gene connections

6 Diseases

2 Unique genes

0.444 Avg. similarity score

Congenital aortic valve atresia Most-connected disease (5 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 aortic valve atresia Congenital mitral valve atresia Intellectual developmental disorder language autism Intellectual developmental disorder seizures hypotonia skeletal Intellectual developmental disorder with language impairment and with or without autistic features Mental retardation with language impairment and autistic features

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Congenital aortic valve atresia	5	5	1
Congenital mitral valve atresia	5	5	1
Intellectual developmental disorder language autism	5	5	1
Intellectual developmental disorder seizures hypotonia skeletal	5	5	2
Intellectual developmental disorder with language impairment and with or without autistic features	5	5	1
Mental retardation with language impairment and autistic features	5	5	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
FOXP1	6 / 6	Congenital aortic valve atresia, Congenital mitral valve atresia, Intellectual developmental disorder language autism, Intellectual developmental disorder seizures hypotonia skeletal and 2 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 ⇵
Attachment of GPI anchor to uPAR PIGT	Reactome	1 / 7	858×	1.17e-3	1.27e-2 ✓ sig.
Transcriptional regulation of pluripotent stem cells FOXP1	Reactome	1 / 17	353×	2.83e-3	2.44e-2 ✓ sig.
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis PIGT	KEGG	1 / 30	200×	4.99e-3	3.64e-2 ✓ sig.
MicroRNAs in cancer FOXP1	KEGG	1 / 311	19.3×	5.11e-2	1.47e-1
Metabolic pathways PIGT	KEGG	1 / 1,563	3.8×	2.43e-1	3.76e-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 ⇵
regulation of macrophage colony-stimulating factor production FOXP1	GO:1901256	1 / 1	9,344×	1.07e-4	3.25e-3 ✓ sig.
positive regulation of interleukin-21 production FOXP1	GO:0032745	1 / 2	4,672×	2.14e-4	5.31e-3 ✓ sig.
regulation of monocyte differentiation FOXP1	GO:0045655	1 / 2	4,672×	2.14e-4	5.31e-3 ✓ sig.
regulation of defense response to bacterium FOXP1	GO:1900424	1 / 2	4,672×	2.14e-4	5.31e-3 ✓ sig.
regulation of chemokine (C-X-C motif) ligand 2 production FOXP1	GO:2000341	1 / 4	2,336×	4.28e-4	8.53e-3 ✓ sig.
regulation of interleukin-12 production FOXP1	GO:0032655	1 / 4	2,336×	4.28e-4	8.53e-3 ✓ sig.
regulation of endothelial tube morphogenesis FOXP1	GO:1901509	1 / 4	2,336×	4.28e-4	8.53e-3 ✓ sig.
positive regulation of hydrogen peroxide-mediated programmed cell death FOXP1	GO:1901300	1 / 5	1,869×	5.35e-4	9.88e-3 ✓ sig.
GPI anchored protein biosynthesis PIGT	GO:0180046	1 / 5	1,869×	5.35e-4	9.88e-3 ✓ sig.
attachment of GPI anchor to protein PIGT	GO:0016255	1 / 6	1,557×	6.42e-4	1.11e-2 ✓ sig.
osteoclast development FOXP1	GO:0036035	1 / 8	1,168×	8.56e-4	1.33e-2 ✓ sig.
monocyte activation FOXP1	GO:0042117	1 / 9	1,038×	9.63e-4	1.42e-2 ✓ sig.
endothelial cell activation FOXP1	GO:0042118	1 / 9	1,038×	9.63e-4	1.42e-2 ✓ sig.
positive regulation of B cell receptor signaling pathway FOXP1	GO:0050861	1 / 9	1,038×	9.63e-4	1.42e-2 ✓ sig.
negative regulation of B cell apoptotic process FOXP1	GO:0002903	1 / 11	849×	1.18e-3	1.59e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Congenital aortic valve atresia	Congenital mitral valve atresia	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital aortic valve atresia	Intellectual developmental disorder language autism	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital aortic valve atresia	Intellectual developmental disorder with language impairment and with or without autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital aortic valve atresia	Mental retardation with language impairment and autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital mitral valve atresia	Intellectual developmental disorder language autism	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital mitral valve atresia	Intellectual developmental disorder with language impairment and with or without autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital mitral valve atresia	Mental retardation with language impairment and autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Intellectual developmental disorder language autism	Intellectual developmental disorder with language impairment and with or without autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Intellectual developmental disorder language autism	Mental retardation with language impairment and autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Intellectual developmental disorder with language impairment and with or without autistic features	Mental retardation with language impairment and autistic features	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Congenital aortic valve atresia	Intellectual developmental disorder seizures hypotonia skeletal	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Congenital mitral valve atresia	Intellectual developmental disorder seizures hypotonia skeletal	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Intellectual developmental disorder language autism	Intellectual developmental disorder seizures hypotonia skeletal	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Intellectual developmental disorder seizures hypotonia skeletal	Intellectual developmental disorder with language impairment and with or without autistic features	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Intellectual developmental disorder seizures hypotonia skeletal	Mental retardation with language impairment and autistic features	0.333	1	1.29e-4	3.27e-4 ✓ sig.

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