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Cluster 466

6 diseases · 15 shared-gene connections

6 Diseases

3 Unique genes

0.417 Avg. similarity score

Brown tendon sheath 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.

Brown tendon sheath syndrome Dystonia 4, hypomyelinating leukodystrophy 6 Dystonia 4, torsion, autosomal dominant Hypomyelination with atrophy of the basal ganglia and cerebellum Neurologic disorder Whispering dysphonia

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Brown tendon sheath syndrome	5	5	3
Dystonia 4, hypomyelinating leukodystrophy 6	5	5	1
Dystonia 4, torsion, autosomal dominant	5	5	1
Hypomyelination with atrophy of the basal ganglia and cerebellum	5	5	1
Neurologic disorder	5	5	1
Whispering dysphonia	5	5	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
TUBB4A	6 / 6	Brown tendon sheath syndrome, Dystonia 4, hypomyelinating leukodystrophy 6, Dystonia 4, torsion, autosomal dominant, Hypomyelination with atrophy of the basal ganglia and cerebellum and 2 more

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 ⇵
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane TUBB4A	Reactome	1 / 18	222×	4.49e-3	3.39e-2 ✓ sig.
Cilium Assembly TUBB4A	Reactome	1 / 19	211×	4.74e-3	3.52e-2 ✓ sig.
Carboxyterminal post-translational modifications of tubulin TUBB4A	Reactome	1 / 27	148×	6.73e-3	4.43e-2 ✓ sig.
Sealing of the nuclear envelope (NE) by ESCRT-III TUBB4A	Reactome	1 / 31	129×	7.72e-3	4.84e-2 ✓ sig.
RHO GTPases activate IQGAPs TUBB4A	Reactome	1 / 32	125×	7.97e-3	4.94e-2 ✓ sig.
Aggrephagy TUBB4A	Reactome	1 / 40	100×	9.96e-3	5.67e-2
Recycling pathway of L1 TUBB4A	Reactome	1 / 40	100×	9.96e-3	5.67e-2
COPI-independent Golgi-to-ER retrograde traffic TUBB4A	Reactome	1 / 51	78.5×	1.27e-2	6.57e-2
Intraflagellar transport TUBB4A	Reactome	1 / 54	74.1×	1.34e-2	6.79e-2
HSP90 chaperone cycle for steroid hormone receptors (SHR) TUBB4A	Reactome	1 / 55	72.8×	1.37e-2	6.87e-2
Hedgehog 'off' state TUBB4A	Reactome	1 / 56	71.5×	1.39e-2	6.95e-2
Kinesins TUBB4A	Reactome	1 / 59	67.9×	1.47e-2	7.17e-2
Loss of Nlp from mitotic centrosomes TUBB4A	Reactome	1 / 70	57.2×	1.74e-2	7.89e-2
Loss of proteins required for interphase microtubule organization from the centrosome TUBB4A	Reactome	1 / 70	57.2×	1.74e-2	7.89e-2
AURKA Activation by TPX2 TUBB4A	Reactome	1 / 73	54.8×	1.81e-2	8.11e-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 ⇵
rhombomere 6 development MAFB	GO:0021572	1 / 1	6,229×	1.61e-4	4.34e-3 ✓ sig.
microtubule cytoskeleton organization TOGARAM1, TUBB4A	GO:0000226	2 / 149	83.6×	1.88e-4	4.88e-3 ✓ sig.
rhombomere 5 development MAFB	GO:0021571	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
abducens nerve formation MAFB	GO:0021599	1 / 2	3,115×	3.21e-4	7.04e-3 ✓ sig.
brain segmentation MAFB	GO:0035284	1 / 3	2,076×	4.82e-4	9.24e-3 ✓ sig.
cornified envelope assembly MAFB	GO:1903575	1 / 6	1,038×	9.63e-4	1.42e-2 ✓ sig.
regulation of myeloid cell differentiation MAFB	GO:0045637	1 / 8	779×	1.28e-3	1.67e-2 ✓ sig.
segment specification MAFB	GO:0007379	1 / 8	779×	1.28e-3	1.67e-2 ✓ sig.
negative regulation of erythrocyte differentiation MAFB	GO:0045647	1 / 10	623×	1.60e-3	1.88e-2 ✓ sig.
negative regulation of microtubule polymerization TUBB4A	GO:0031115	1 / 13	479×	2.09e-3	2.17e-2 ✓ sig.
integrated stress response signaling MAFB	GO:0140467	1 / 25	249×	4.01e-3	3.01e-2 ✓ sig.
sensory organ development MAFB	GO:0007423	1 / 27	231×	4.33e-3	3.11e-2 ✓ sig.
positive regulation of microtubule polymerization TOGARAM1	GO:0031116	1 / 27	231×	4.33e-3	3.11e-2 ✓ sig.
negative regulation of osteoclast differentiation MAFB	GO:0045671	1 / 30	208×	4.81e-3	3.27e-2 ✓ sig.
respiratory gaseous exchange by respiratory system MAFB	GO:0007585	1 / 31	201×	4.97e-3	3.33e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Dystonia 4, hypomyelinating leukodystrophy 6	Whispering dysphonia	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Dystonia 4, hypomyelinating leukodystrophy 6	Neurologic disorder	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Dystonia 4, hypomyelinating leukodystrophy 6	Hypomyelination with atrophy of the basal ganglia and cerebellum	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Dystonia 4, hypomyelinating leukodystrophy 6	Dystonia 4, torsion, autosomal dominant	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Dystonia 4, torsion, autosomal dominant	Whispering dysphonia	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Dystonia 4, torsion, autosomal dominant	Neurologic disorder	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Dystonia 4, torsion, autosomal dominant	Hypomyelination with atrophy of the basal ganglia and cerebellum	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hypomyelination with atrophy of the basal ganglia and cerebellum	Whispering dysphonia	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hypomyelination with atrophy of the basal ganglia and cerebellum	Neurologic disorder	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Neurologic disorder	Whispering dysphonia	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Brown tendon sheath syndrome	Whispering dysphonia	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Brown tendon sheath syndrome	Neurologic disorder	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Brown tendon sheath syndrome	Hypomyelination with atrophy of the basal ganglia and cerebellum	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Brown tendon sheath syndrome	Dystonia 4, torsion, autosomal dominant	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Brown tendon sheath syndrome	Dystonia 4, hypomyelinating leukodystrophy 6	0.250	1	1.94e-4	4.41e-4 ✓ sig.

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