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Cluster 492

6 diseases · 11 shared-gene connections

6 Diseases

2 Unique genes

0.424 Avg. similarity score

Fontaine progeroid syndrome 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.

Fontaine progeroid syndrome Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Progressive external ophthalmoplegia with mitochondrial dna deletions 3 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2 Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number Hypertrichosis, progeroid appearance, and mitochondrial dysfunction (gorlin-chaudhry-moss syndrome )

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Fontaine progeroid syndrome	5	5	2
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	4	4	1
Progressive external ophthalmoplegia with mitochondrial dna deletions 3	4	4	1
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2	4	4	1
Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number	4	4	1
Hypertrichosis, progeroid appearance, and mitochondrial dysfunction (gorlin-chaudhry-moss syndrome )	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
SLC25A4	5 / 6	Fontaine progeroid syndrome, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial dna deletions 3, Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2 and 1 more
SLC25A24	2 / 6	Fontaine progeroid syndrome, Hypertrichosis, progeroid appearance, and mitochondrial dysfunction (gorlin-chaudhry-moss 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 ⇵
Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization SLC25A4	Reactome	1 / 3	2,002×	5.00e-4	6.67e-3 ✓ sig.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane SLC25A4	Reactome	1 / 12	500×	2.00e-3	1.90e-2 ✓ sig.
Mitochondrial protein import SLC25A4	Reactome	1 / 19	316×	3.16e-3	2.64e-2 ✓ sig.
Spinocerebellar ataxia SLC25A4	KEGG	1 / 144	41.7×	2.38e-2	9.48e-2
Cellular senescence SLC25A4	KEGG	1 / 157	38.2×	2.60e-2	9.97e-2
Necroptosis SLC25A4	KEGG	1 / 159	37.8×	2.63e-2	1.00e-1
cGMP-PKG signaling pathway SLC25A4	KEGG	1 / 166	36.2×	2.75e-2	1.03e-1
Influenza A SLC25A4	KEGG	1 / 173	34.7×	2.86e-2	1.05e-1
Neutrophil extracellular trap formation SLC25A4	KEGG	1 / 192	31.3×	3.17e-2	1.12e-1
Diabetic cardiomyopathy SLC25A4	KEGG	1 / 205	29.3×	3.38e-2	1.16e-1
Human T-cell leukemia virus 1 infection SLC25A4	KEGG	1 / 224	26.8×	3.70e-2	1.22e-1
Chemical carcinogenesis - reactive oxygen species SLC25A4	KEGG	1 / 227	26.5×	3.74e-2	1.23e-1
Calcium signaling pathway SLC25A4	KEGG	1 / 254	23.6×	4.19e-2	1.31e-1
Parkinson disease SLC25A4	KEGG	1 / 268	22.4×	4.41e-2	1.35e-1
Prion disease SLC25A4	KEGG	1 / 275	21.8×	4.53e-2	1.37e-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 ⇵
mitochondrial ATP transmembrane transport SLC25A24, SLC25A4	GO:1990544	2 / 8	2,336×	1.60e-7	1.89e-5 ✓ sig.
ADP transport SLC25A24, SLC25A4	GO:0015866	2 / 9	2,076×	2.06e-7	2.32e-5 ✓ sig.
adenine nucleotide transport SLC25A24	GO:0051503	1 / 3	3,115×	3.21e-4	7.04e-3 ✓ sig.
mitochondrial ADP transmembrane transport SLC25A4	GO:0140021	1 / 5	1,869×	5.35e-4	9.88e-3 ✓ sig.
adenine transport SLC25A4	GO:0015853	1 / 6	1,557×	6.42e-4	1.11e-2 ✓ sig.
transmembrane transport SLC25A24, SLC25A4	GO:0055085	2 / 557	33.5×	8.87e-4	1.37e-2 ✓ sig.
regulation of mitochondrial membrane permeability SLC25A4	GO:0046902	1 / 12	779×	1.28e-3	1.67e-2 ✓ sig.
ATP transport SLC25A24	GO:0015867	1 / 12	779×	1.28e-3	1.67e-2 ✓ sig.
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway SLC25A4	GO:1901029	1 / 15	623×	1.60e-3	1.88e-2 ✓ sig.
adaptive thermogenesis SLC25A4	GO:1990845	1 / 15	623×	1.60e-3	1.88e-2 ✓ sig.
positive regulation of mitophagy SLC25A4	GO:1901526	1 / 15	623×	1.60e-3	1.88e-2 ✓ sig.
mitochondrial transport SLC25A24	GO:0006839	1 / 16	584×	1.71e-3	1.96e-2 ✓ sig.
apoptotic mitochondrial changes SLC25A4	GO:0008637	1 / 20	467×	2.14e-3	2.19e-2 ✓ sig.
negative regulation of necroptotic process SLC25A4	GO:0060546	1 / 22	425×	2.35e-3	2.30e-2 ✓ sig.
generation of precursor metabolites and energy SLC25A4	GO:0006091	1 / 49	191×	5.24e-3	3.41e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Progressive external ophthalmoplegia with mitochondrial dna deletions 3	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Progressive external ophthalmoplegia with mitochondrial dna deletions 3	Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Progressive external ophthalmoplegia with mitochondrial dna deletions 3	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2	Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Fontaine progeroid syndrome	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Fontaine progeroid syndrome	Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Fontaine progeroid syndrome	Progressive external ophthalmoplegia with mitochondrial dna deletions 3	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Fontaine progeroid syndrome	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Fontaine progeroid syndrome	Hypertrichosis, progeroid appearance, and mitochondrial dysfunction (gorlin-chaudhry-moss syndrome )	0.333	1	1.29e-4	3.27e-4 ✓ sig.

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