Disease Clusters | GeDiPNet

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Cluster 234

7 diseases · 17 shared-gene connections

7 Diseases

15 Unique genes

0.317 Avg. similarity score

Acromegaloid facial appearance syndrome 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.

Acromegaloid facial appearance syndrome Cantu syndrome Intellectual disability and myopathy syndrome Kleefstra syndrome dilated cardiomyopathy 1O hypertrichotic osteochondrodysplasia Cantu type

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Acromegaloid facial appearance syndrome	6	6	1
Cantu syndrome	6	6	2
Intellectual disability and myopathy syndrome	5	5	1
Kleefstra syndrome	5	5	5
dilated cardiomyopathy 1O	5	5	1
hypertrichotic osteochondrodysplasia Cantu type	5	5	1
Hypertrichosis	2	2	11

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

Gene ⇵	Member diseases ⇵	Linked diseases
ABCC9	7 / 7	Acromegaloid facial appearance syndrome, Cantu syndrome, dilated cardiomyopathy 1O, Hypertrichosis and 3 more
KCNJ8	2 / 7	Cantu syndrome, Hypertrichosis

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 ⇵
ATP sensitive Potassium channels ABCC9, KCNJ8, KCNJ11	Reactome	3 / 4	601×	6.30e-9	5.84e-7 ✓ sig.
Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia ABCC9, KCNJ11	Reactome	2 / 2	801×	1.46e-6	6.76e-5 ✓ sig.
MPS IIIB - Sanfilippo syndrome B NAGLU	Reactome	1 / 1	801×	1.25e-3	1.60e-2 ✓ sig.
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) SLC29A3	Reactome	1 / 1	801×	1.25e-3	1.60e-2 ✓ sig.
ABC transporters ABCC9, ABCA5	KEGG	2 / 45	35.6×	1.40e-3	1.75e-2 ✓ sig.
Ion homeostasis ABCC9, KCNJ11	Reactome	2 / 54	29.7×	2.01e-3	2.29e-2 ✓ sig.
Defective ABCC8 can cause hypoglycemias and hyperglycemias KCNJ11	Reactome	1 / 2	400×	2.50e-3	2.69e-2 ✓ sig.
Lysine degradation EHMT1, KMT2C	KEGG	2 / 63	25.4×	2.72e-3	2.87e-2 ✓ sig.
PKMTs methylate histone lysines EHMT1, KMT2C	Reactome	2 / 71	22.6×	3.44e-3	3.40e-2 ✓ sig.
ABC-family proteins mediated transport ABCC9, KCNJ11	Reactome	2 / 81	19.8×	4.46e-3	4.07e-2 ✓ sig.
Polycomb repressive complex ASXL1, CREBBP	KEGG	2 / 83	19.3×	4.67e-3	4.19e-2 ✓ sig.
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production CREBBP	Reactome	1 / 5	160×	6.23e-3	5.06e-2
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells CREBBP	Reactome	1 / 7	114×	8.71e-3	6.31e-2
Regulation of FOXO transcriptional activity by acetylation CREBBP	Reactome	1 / 7	114×	8.71e-3	6.31e-2
Regulation of gene expression by Hypoxia-inducible Factor CREBBP	Reactome	1 / 11	72.8×	1.37e-2	8.23e-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 ⇵
response to ATP ABCC9, KCNJ8, KCNJ11	GO:0033198	3 / 18	208×	3.39e-7	3.37e-5 ✓ sig.
inorganic cation transmembrane transport ABCC9, KCNJ8, KCNJ11	GO:0098662	3 / 23	162×	7.34e-7	6.46e-5 ✓ sig.
response to resveratrol KCNJ8, KCNJ11	GO:1904638	2 / 3	831×	1.80e-6	1.33e-4 ✓ sig.
determination of adult lifespan KCNJ8, KCNJ11, NAGLU	GO:0008340	3 / 38	98.4×	3.47e-6	2.24e-4 ✓ sig.
potassium ion import across plasma membrane ABCC9, KCNJ8, KCNJ11	GO:1990573	3 / 46	81.2×	6.22e-6	3.57e-4 ✓ sig.
CAMKK-AMPK signaling cascade KCNJ8, KCNJ11	GO:0061762	2 / 6	415×	9.00e-6	4.81e-4 ✓ sig.
action potential ABCC9, KCNJ8, KCNJ11	GO:0001508	3 / 53	70.5×	9.57e-6	5.04e-4 ✓ sig.
response to stress ABCC9, KCNJ8, KCNJ11	GO:0006950	3 / 53	70.5×	9.57e-6	5.04e-4 ✓ sig.
response to hypoxia ABCC9, KCNJ8, CREBBP, KCNJ11	GO:0001666	4 / 176	28.3×	9.57e-6	5.04e-4 ✓ sig.
heart morphogenesis ABCC9, KCNJ8, ASXL1	GO:0003007	3 / 61	61.3×	1.46e-5	7.04e-4 ✓ sig.
ventricular cardiac muscle tissue development KCNJ8, KCNJ11	GO:0003229	2 / 9	277×	2.16e-5	9.54e-4 ✓ sig.
hypothalamus development RAB3GAP1, SOX3	GO:0021854	2 / 15	166×	6.28e-5	2.13e-3 ✓ sig.
regulation of monoatomic ion transmembrane transport KCNJ8, KCNJ11	GO:0034765	2 / 23	108×	1.51e-4	4.11e-3 ✓ sig.
circulatory system development ABCC9, KCNJ8	GO:0072359	2 / 24	104×	1.64e-4	4.39e-3 ✓ sig.
coronary vasculature development ABCC9, KCNJ8	GO:0060976	2 / 27	92.3×	2.09e-4	5.20e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Cantu syndrome	Hypertrichosis	0.167	2	4.64e-7	3.06e-6 ✓ sig.
Acromegaloid facial appearance syndrome	hypertrichotic osteochondrodysplasia Cantu type	0.500	1	6.49e-5	2.34e-4 ✓ sig.
hypertrichotic osteochondrodysplasia Cantu type	Intellectual disability and myopathy syndrome	0.500	1	6.49e-5	2.34e-4 ✓ sig.
dilated cardiomyopathy 1O	hypertrichotic osteochondrodysplasia Cantu type	0.500	1	6.49e-5	2.34e-4 ✓ sig.
dilated cardiomyopathy 1O	Intellectual disability and myopathy syndrome	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Acromegaloid facial appearance syndrome	dilated cardiomyopathy 1O	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Acromegaloid facial appearance syndrome	Intellectual disability and myopathy syndrome	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Cantu syndrome	Intellectual disability and myopathy syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Cantu syndrome	hypertrichotic osteochondrodysplasia Cantu type	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Cantu syndrome	dilated cardiomyopathy 1O	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Acromegaloid facial appearance syndrome	Cantu syndrome	0.333	1	1.30e-4	3.90e-4 ✓ sig.
Acromegaloid facial appearance syndrome	Kleefstra syndrome	0.167	1	3.25e-4	7.58e-4 ✓ sig.
dilated cardiomyopathy 1O	Kleefstra syndrome	0.167	1	3.25e-4	7.58e-4 ✓ sig.
hypertrichotic osteochondrodysplasia Cantu type	Kleefstra syndrome	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Intellectual disability and myopathy syndrome	Kleefstra syndrome	0.167	1	3.25e-4	7.58e-4 ✓ sig.
Cantu syndrome	Kleefstra syndrome	0.143	1	6.49e-4	1.22e-3 ✓ sig.
Acromegaloid facial appearance syndrome	Hypertrichosis	0.083	1	7.14e-4	1.31e-3 ✓ sig.

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