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Cluster 568

5 diseases · 7 shared-gene connections

5 Diseases

3 Unique genes

0.357 Avg. similarity score

Auditory neuropathy with optic atrophy 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.

Auditory neuropathy with optic atrophy Multiple mitochondrial dysfunctions syndrome 9b Optic atrophy mitochondrial dysfunction syndrome Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Autosomal recessive optic atrophy, OPA7 type

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Auditory neuropathy with optic atrophy	4	4	3
Multiple mitochondrial dysfunctions syndrome 9b	3	3	1
Optic atrophy mitochondrial dysfunction syndrome	3	3	1
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	3	3	1
Autosomal recessive optic atrophy, OPA7 type	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
FDXR	4 / 5	Auditory neuropathy with optic atrophy, Multiple mitochondrial dysfunctions syndrome 9b, Optic atrophy mitochondrial dysfunction syndrome, Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
TMEM126A	2 / 5	Auditory neuropathy with optic atrophy, Autosomal recessive optic atrophy, OPA7 type

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 ⇵
Electron transport from NADPH to Ferredoxin FDXR	Reactome	1 / 3	1,334×	7.49e-4	9.09e-3 ✓ sig.
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) FDXR	Reactome	1 / 4	1,001×	9.99e-4	1.13e-2 ✓ sig.
Assembly and cell surface presentation of NMDA receptors GRIN2C	Reactome	1 / 6	667×	1.50e-3	1.54e-2 ✓ sig.
Pregnenolone biosynthesis FDXR	Reactome	1 / 12	334×	2.99e-3	2.54e-2 ✓ sig.
Synaptic adhesion-like molecules GRIN2C	Reactome	1 / 21	191×	5.24e-3	3.76e-2 ✓ sig.
Unblocking of NMDA receptors, glutamate binding and activation GRIN2C	Reactome	1 / 22	182×	5.49e-3	3.87e-2 ✓ sig.
Endogenous sterols FDXR	Reactome	1 / 25	160×	6.23e-3	4.21e-2 ✓ sig.
Nicotine addiction GRIN2C	KEGG	1 / 41	97.6×	1.02e-2	5.76e-2
Cocaine addiction GRIN2C	KEGG	1 / 49	81.7×	1.22e-2	6.42e-2
Long-term potentiation GRIN2C	KEGG	1 / 67	59.8×	1.66e-2	7.70e-2
Amphetamine addiction GRIN2C	KEGG	1 / 69	58.0×	1.71e-2	7.85e-2
Circadian entrainment GRIN2C	KEGG	1 / 97	41.3×	2.40e-2	9.53e-2
Glutamatergic synapse GRIN2C	KEGG	1 / 116	34.5×	2.87e-2	1.06e-1
Spinocerebellar ataxia GRIN2C	KEGG	1 / 144	27.8×	3.55e-2	1.19e-1
Alcoholism GRIN2C	KEGG	1 / 188	21.3×	4.62e-2	1.38e-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 ⇵
directional locomotion GRIN2C	GO:0033058	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
protein localization to postsynaptic membrane GRIN2C	GO:1903539	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
mitochondrial protein quality control TMEM126A	GO:0141164	1 / 4	1,557×	6.42e-4	1.11e-2 ✓ sig.
protein insertion into mitochondrial inner membrane from matrix TMEM126A	GO:0032979	1 / 5	1,246×	8.03e-4	1.28e-2 ✓ sig.
calcium ion transmembrane import into cytosol GRIN2C	GO:0097553	1 / 10	623×	1.60e-3	1.88e-2 ✓ sig.
regulation of monoatomic cation transmembrane transport GRIN2C	GO:1904062	1 / 10	623×	1.60e-3	1.88e-2 ✓ sig.
excitatory chemical synaptic transmission GRIN2C	GO:0098976	1 / 13	479×	2.09e-3	2.17e-2 ✓ sig.
optic nerve development TMEM126A	GO:0021554	1 / 15	415×	2.41e-3	2.32e-2 ✓ sig.
ubiquinone biosynthetic process FDXR	GO:0006744	1 / 17	366×	2.73e-3	2.48e-2 ✓ sig.
glutamate receptor signaling pathway GRIN2C	GO:0007215	1 / 19	328×	3.05e-3	2.62e-2 ✓ sig.
ionotropic glutamate receptor signaling pathway GRIN2C	GO:0035235	1 / 23	271×	3.69e-3	2.89e-2 ✓ sig.
regulation of neuronal synaptic plasticity GRIN2C	GO:0048168	1 / 26	240×	4.17e-3	3.06e-2 ✓ sig.
positive regulation of synaptic transmission, glutamatergic GRIN2C	GO:0051968	1 / 28	222×	4.49e-3	3.17e-2 ✓ sig.
positive regulation of excitatory postsynaptic potential GRIN2C	GO:2000463	1 / 32	195×	5.13e-3	3.37e-2 ✓ sig.
mitochondrial respiratory chain complex I assembly TMEM126A	GO:0032981	1 / 40	156×	6.41e-3	3.73e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Multiple mitochondrial dysfunctions syndrome 9b	Optic atrophy mitochondrial dysfunction syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Multiple mitochondrial dysfunctions syndrome 9b	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Optic atrophy mitochondrial dysfunction syndrome	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Auditory neuropathy with optic atrophy	Optic atrophy mitochondrial dysfunction syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Auditory neuropathy with optic atrophy	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Auditory neuropathy with optic atrophy	Multiple mitochondrial dysfunctions syndrome 9b	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Auditory neuropathy with optic atrophy	Autosomal recessive optic atrophy, OPA7 type	0.250	1	1.94e-4	4.41e-4 ✓ sig.

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