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Cluster 605

5 diseases · 7 shared-gene connections

5 Diseases

4 Unique genes

0.329 Avg. similarity score

Houge janssens syndrome Most-connected disease (4 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.

Houge janssens syndrome Intellectual developmental disorder growth behavioral Intellectual developmental disorder macrocephaly hypotonia behavioral Mental retardation, autosomal dominant 35 Neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Houge janssens syndrome	4	4	4
Intellectual developmental disorder growth behavioral	3	3	1
Intellectual developmental disorder macrocephaly hypotonia behavioral	3	3	1
Mental retardation, autosomal dominant 35	3	3	1
Neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
PPP2R5D	4 / 5	Houge janssens syndrome, Intellectual developmental disorder growth behavioral, Intellectual developmental disorder macrocephaly hypotonia behavioral, Mental retardation, autosomal dominant 35
PPP2R5C	2 / 5	Houge janssens syndrome, Neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures

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 ⇵
APC truncation mutants have impaired AXIN binding PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 14	858×	1.16e-12	2.17e-10 ✓ sig.
AXIN missense mutants destabilize the destruction complex PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 14	858×	1.16e-12	2.17e-10 ✓ sig.
Truncations of AMER1 destabilize the destruction complex PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 14	858×	1.16e-12	2.17e-10 ✓ sig.
Misspliced GSK3beta mutants stabilize beta-catenin PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 15	801×	1.58e-12	2.86e-10 ✓ sig.
S33 mutants of beta-catenin aren't phosphorylated PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 15	801×	1.58e-12	2.86e-10 ✓ sig.
S37 mutants of beta-catenin aren't phosphorylated PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 15	801×	1.58e-12	2.86e-10 ✓ sig.
S45 mutants of beta-catenin aren't phosphorylated PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 15	801×	1.58e-12	2.86e-10 ✓ sig.
T41 mutants of beta-catenin aren't phosphorylated PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 15	801×	1.58e-12	2.86e-10 ✓ sig.
Beta-catenin phosphorylation cascade PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 17	706×	2.75e-12	4.71e-10 ✓ sig.
Platelet sensitization by LDL PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 17	706×	2.75e-12	4.71e-10 ✓ sig.
CTLA4 inhibitory signaling PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 21	572×	6.91e-12	1.09e-9 ✓ sig.
Disassembly of the destruction complex and recruitment of AXIN to the membrane PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 30	400×	3.16e-11	4.27e-9 ✓ sig.
RAF activation PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 32	375×	4.15e-11	5.44e-9 ✓ sig.
Negative regulation of MAPK pathway PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 38	316×	8.52e-11	1.02e-8 ✓ sig.
Degradation of beta-catenin by the destruction complex PPP2R5D, PPP2R1A, PPP2CA, PPP2R5C	Reactome	4 / 69	174×	9.98e-10	9.32e-8 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
meiotic sister chromatid cohesion PPP2R5D, PPP2R5C	GO:0051177	2 / 7	1,335×	7.21e-7	6.58e-5 ✓ sig.
RNA polymerase II transcription initiation surveillance PPP2R1A, PPP2CA	GO:0160240	2 / 20	467×	6.52e-6	3.91e-4 ✓ sig.
regulation of growth PPP2R1A, PPP2CA	GO:0040008	2 / 23	406×	8.68e-6	4.87e-4 ✓ sig.
negative regulation of hippo signaling PPP2R1A, PPP2CA	GO:0035331	2 / 25	374×	1.03e-5	5.56e-4 ✓ sig.
T cell homeostasis PPP2R1A, PPP2CA	GO:0043029	2 / 39	240×	2.54e-5	1.10e-3 ✓ sig.
transcription elongation by RNA polymerase II PPP2R1A, PPP2CA	GO:0006368	2 / 46	203×	3.55e-5	1.42e-3 ✓ sig.
regulation of cell differentiation PPP2R1A, PPP2CA	GO:0045595	2 / 54	173×	4.90e-5	1.82e-3 ✓ sig.
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PPP2R1A, PPP2CA	GO:0051898	2 / 78	120×	1.03e-4	3.16e-3 ✓ sig.
meiotic spindle elongation PPP2R1A	GO:0051232	1 / 1	4,672×	2.14e-4	5.31e-3 ✓ sig.
regulation of meiotic cell cycle process involved in oocyte maturation PPP2R1A	GO:1903538	1 / 2	2,336×	4.28e-4	8.53e-3 ✓ sig.
negative regulation of glycolytic process through fructose-6-phosphate PPP2CA	GO:1904539	1 / 4	1,168×	8.56e-4	1.33e-2 ✓ sig.
meiotic sister chromatid cohesion, centromeric PPP2R1A	GO:0051754	1 / 5	934×	1.07e-3	1.51e-2 ✓ sig.
mitotic sister chromatid separation PPP2R1A	GO:0051306	1 / 5	934×	1.07e-3	1.51e-2 ✓ sig.
vascular endothelial cell response to oscillatory fluid shear stress PPP2CA	GO:0097706	1 / 5	934×	1.07e-3	1.51e-2 ✓ sig.
transcription by RNA polymerase II PPP2R1A, PPP2CA	GO:0006366	2 / 261	35.8×	1.14e-3	1.57e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Intellectual developmental disorder growth behavioral	Intellectual developmental disorder macrocephaly hypotonia behavioral	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Intellectual developmental disorder growth behavioral	Mental retardation, autosomal dominant 35	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Intellectual developmental disorder macrocephaly hypotonia behavioral	Mental retardation, autosomal dominant 35	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Houge janssens syndrome	Neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Houge janssens syndrome	Intellectual developmental disorder growth behavioral	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Houge janssens syndrome	Intellectual developmental disorder macrocephaly hypotonia behavioral	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Houge janssens syndrome	Mental retardation, autosomal dominant 35	0.200	1	2.58e-4	5.38e-4 ✓ sig.

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