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Cluster 191

9 diseases · 18 shared-gene connections

9 Diseases

4 Unique genes

0.384 Avg. similarity score

15q24 microdeletion Most-connected disease (6 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: Syndromic intellectual disability and autism spectrum disorder 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.

Syndromic intellectual disability and autism spectrum disorder 15q24 microdeletion Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies Cleft palate cardiac defects impaired intellectual development Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion Disorder with cleft palate, cardiac defects, and developmental delay

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
15q24 microdeletion	6	6	2
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	5	5	1
Cleft palate cardiac defects impaired intellectual development	5	5	1
Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	5	5	1
Disorder with cleft palate, cardiac defects, and developmental delay	5	5	1
Cardiac, facial, and digital anomalies with developmental delay	4	4	2
Witteveen-kolk syndrome	3	3	2
Chromosome 15q24 deletion syndrome	2	2	1
Syndromic intellectual disability and autism spectrum disorder	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
MEIS2	6 / 9	15q24 microdeletion, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, Cardiac, facial, and digital anomalies with developmental delay, Cleft palate cardiac defects impaired intellectual development and 2 more
SIN3A	3 / 9	15q24 microdeletion, Chromosome 15q24 deletion syndrome, Witteveen-kolk syndrome
SIN3B	2 / 9	Syndromic intellectual disability and autism spectrum disorder, Witteveen-kolk 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 ⇵
Regulation of lipid metabolism by PPARalpha SIN3A, SIN3B	Reactome	2 / 20	300×	1.58e-5	4.28e-4 ✓ sig.
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function SIN3A, SIN3B	Reactome	2 / 97	61.9×	3.83e-4	5.44e-3 ✓ sig.
Loss of MECP2 binding ability to 5mC-DNA SIN3A	Reactome	1 / 3	1,001×	9.99e-4	1.13e-2 ✓ sig.
Regulation of MECP2 expression and activity SIN3A	Reactome	1 / 6	500×	2.00e-3	1.90e-2 ✓ sig.
SUMOylation of transcription cofactors SIN3A	Reactome	1 / 41	73.2×	1.36e-2	6.85e-2
TGF-beta signaling pathway SIN3A	KEGG	1 / 108	27.8×	3.55e-2	1.19e-1
Thyroid hormone signaling pathway SIN3A	KEGG	1 / 122	24.6×	4.00e-2	1.28e-1
Transcriptional misregulation in cancer SIN3A	KEGG	1 / 198	15.2×	6.43e-2	1.67e-1
Epstein-Barr virus infection SIN3A	KEGG	1 / 204	14.7×	6.62e-2	1.70e-1
Huntington disease SIN3A	KEGG	1 / 308	9.7×	9.87e-2	2.15e-1
Antigen processing: Ubiquitination & Proteasome degradation TRAF7	Reactome	1 / 309	9.7×	9.90e-2	2.15e-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 ⇵
response to methylglyoxal SIN3A	GO:0051595	1 / 1	4,672×	2.14e-4	5.31e-3 ✓ sig.
cellular response to tert-butyl hydroperoxide SIN3A	GO:0072736	1 / 1	4,672×	2.14e-4	5.31e-3 ✓ sig.
negative regulation of transcription by RNA polymerase II MEIS2, SIN3A, SIN3B	GO:0000122	3 / 1,002	14.0×	5.90e-4	1.06e-2 ✓ sig.
negative regulation of cell migration SIN3A, SIN3B	GO:0030336	2 / 190	49.2×	6.09e-4	1.09e-2 ✓ sig.
positive regulation of cardiac muscle myoblast proliferation MEIS2	GO:0110024	1 / 3	1,557×	6.42e-4	1.11e-2 ✓ sig.
regulation of hormone levels SIN3A	GO:0010817	1 / 5	934×	1.07e-3	1.51e-2 ✓ sig.
negative regulation of circadian rhythm SIN3A	GO:0042754	1 / 8	584×	1.71e-3	1.96e-2 ✓ sig.
cellular response to dopamine SIN3A	GO:1903351	1 / 8	584×	1.71e-3	1.96e-2 ✓ sig.
regulation of DNA-templated transcription MEIS2, SIN3A, SIN3B	GO:0006355	3 / 1,454	9.6×	1.77e-3	1.99e-2 ✓ sig.
protein K29-linked ubiquitination TRAF7	GO:0035519	1 / 12	389×	2.57e-3	2.40e-2 ✓ sig.
regulation of axon extension SIN3A	GO:0030516	1 / 13	359×	2.78e-3	2.51e-2 ✓ sig.
response to growth factor MEIS2	GO:0070848	1 / 14	334×	2.99e-3	2.59e-2 ✓ sig.
cerebral cortex neuron differentiation SIN3A	GO:0021895	1 / 16	292×	3.42e-3	2.78e-2 ✓ sig.
negative regulation of myeloid cell differentiation MEIS2	GO:0045638	1 / 19	246×	4.06e-3	3.03e-2 ✓ sig.
negative regulation of stem cell population maintenance SIN3A	GO:1902455	1 / 21	222×	4.49e-3	3.17e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	Disorder with cleft palate, cardiac defects, and developmental delay	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Cleft palate cardiac defects impaired intellectual development	Disorder with cleft palate, cardiac defects, and developmental delay	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Cleft palate cardiac defects impaired intellectual development	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	Cleft palate cardiac defects impaired intellectual development	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	Disorder with cleft palate, cardiac defects, and developmental delay	0.500	1	6.46e-5	1.98e-4 ✓ sig.
15q24 microdeletion	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Syndromic intellectual disability and autism spectrum disorder	Witteveen-kolk syndrome	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Chromosome 15q24 deletion syndrome	Witteveen-kolk syndrome	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Cardiac, facial, and digital anomalies with developmental delay	Disorder with cleft palate, cardiac defects, and developmental delay	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Cardiac, facial, and digital anomalies with developmental delay	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Cardiac, facial, and digital anomalies with developmental delay	Cleft palate cardiac defects impaired intellectual development	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	Cardiac, facial, and digital anomalies with developmental delay	0.333	1	1.29e-4	3.27e-4 ✓ sig.
15q24 microdeletion	Chromosome 15q24 deletion syndrome	0.333	1	1.29e-4	3.27e-4 ✓ sig.
15q24 microdeletion	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	0.333	1	1.29e-4	3.27e-4 ✓ sig.
15q24 microdeletion	Disorder with cleft palate, cardiac defects, and developmental delay	0.333	1	1.29e-4	3.27e-4 ✓ sig.
15q24 microdeletion	Cleft palate cardiac defects impaired intellectual development	0.333	1	1.29e-4	3.27e-4 ✓ sig.
15q24 microdeletion	Witteveen-kolk syndrome	0.250	1	2.58e-4	5.38e-4 ✓ sig.

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