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Cluster 260

7 diseases · 16 shared-gene connections

7 Diseases

7 Unique genes

0.282 Avg. similarity score

Cerebellar ataxia, impaired intellectual development, and dysequilibrium 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.

Cerebellar ataxia, impaired intellectual development, and dysequilibrium Cerebellar ataxia, intellectual disability, and dysequilibrium Dysequilibrium syndrome Cerebellar hypoplasia cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	6	6	3
Cerebellar ataxia, intellectual disability, and dysequilibrium	6	6	6
Dysequilibrium syndrome	6	6	6
Cerebellar hypoplasia	4	4	1
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	4	4	1
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	3	3	2
Cerebellar ataxia, mental retardation, and dysequilibrium	3	3	2

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

Gene ⇵	Member diseases ⇵	Linked diseases
VLDLR	5 / 7	Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar ataxia, intellectual disability, and dysequilibrium, cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1, Cerebellar hypoplasia and 1 more
ATP8A2	4 / 7	Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar ataxia, intellectual disability, and dysequilibrium, Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts, Dysequilibrium syndrome
WDR81	4 / 7	Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar ataxia, intellectual disability, and dysequilibrium, Cerebellar ataxia, mental retardation, and dysequilibrium, Dysequilibrium syndrome
CA8	3 / 7	Cerebellar ataxia, intellectual disability, and dysequilibrium, Cerebellar ataxia, mental retardation, and dysequilibrium, Dysequilibrium syndrome
RIPPLY1	2 / 7	Cerebellar ataxia, intellectual disability, and dysequilibrium, Dysequilibrium syndrome
TUBB2B	2 / 7	Cerebellar ataxia, intellectual disability, and dysequilibrium, Dysequilibrium 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 ⇵
Reelin signalling pathway VLDLR	Reactome	1 / 5	343×	2.91e-3	3.01e-2 ✓ sig.
VLDL clearance VLDLR	Reactome	1 / 5	343×	2.91e-3	3.01e-2 ✓ sig.
VLDLR internalisation and degradation VLDLR	Reactome	1 / 12	143×	6.97e-3	5.45e-2
Nitrogen metabolism CA8	KEGG	1 / 17	101×	9.87e-3	6.81e-2
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane TUBB2B	Reactome	1 / 18	95.3×	1.04e-2	7.05e-2
Cilium Assembly TUBB2B	Reactome	1 / 19	90.3×	1.10e-2	7.27e-2
Carboxyterminal post-translational modifications of tubulin TUBB2B	Reactome	1 / 27	63.5×	1.56e-2	8.93e-2
Laminin interactions LAMA1	Reactome	1 / 28	61.3×	1.62e-2	9.12e-2
MET activates PTK2 signaling LAMA1	Reactome	1 / 30	57.2×	1.74e-2	9.50e-2
Sealing of the nuclear envelope (NE) by ESCRT-III TUBB2B	Reactome	1 / 31	55.3×	1.79e-2	9.70e-2
RHO GTPases activate IQGAPs TUBB2B	Reactome	1 / 32	53.6×	1.85e-2	9.85e-2
Aggrephagy TUBB2B	Reactome	1 / 40	42.9×	2.31e-2	1.12e-1
Recycling pathway of L1 TUBB2B	Reactome	1 / 40	42.9×	2.31e-2	1.12e-1
COPI-independent Golgi-to-ER retrograde traffic TUBB2B	Reactome	1 / 51	33.6×	2.94e-2	1.27e-1
Intraflagellar transport TUBB2B	Reactome	1 / 54	31.8×	3.11e-2	1.31e-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 ⇵
involuntary skeletal muscle contraction ATP8A2	GO:0003011	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
positive regulation of axon guidance TUBB2B	GO:1902669	1 / 2	1,335×	7.49e-4	1.25e-2 ✓ sig.
glycoprotein transport VLDLR	GO:0034436	1 / 3	890×	1.12e-3	1.62e-2 ✓ sig.
positive regulation of phospholipid translocation ATP8A2	GO:0061092	1 / 4	667×	1.50e-3	1.91e-2 ✓ sig.
very-low-density lipoprotein particle clearance VLDLR	GO:0034447	1 / 5	534×	1.87e-3	2.19e-2 ✓ sig.
somite specification RIPPLY1	GO:0001757	1 / 5	534×	1.87e-3	2.19e-2 ✓ sig.
lipid transport VLDLR, ATP8A2	GO:0006869	2 / 189	28.2×	2.07e-3	2.30e-2 ✓ sig.
retinal blood vessel morphogenesis LAMA1	GO:0061304	1 / 6	445×	2.25e-3	2.41e-2 ✓ sig.
regulation of basement membrane organization LAMA1	GO:0110011	1 / 6	445×	2.25e-3	2.41e-2 ✓ sig.
aminophospholipid translocation ATP8A2	GO:0140331	1 / 7	381×	2.62e-3	2.62e-2 ✓ sig.
ventral spinal cord development VLDLR	GO:0021517	1 / 9	297×	3.37e-3	3.01e-2 ✓ sig.
neurofilament cytoskeleton organization ATP8A2	GO:0060052	1 / 10	267×	3.74e-3	3.18e-2 ✓ sig.
morphogenesis of an epithelial sheet LAMA1	GO:0002011	1 / 10	267×	3.74e-3	3.18e-2 ✓ sig.
somite rostral/caudal axis specification RIPPLY1	GO:0032525	1 / 11	243×	4.11e-3	3.32e-2 ✓ sig.
branching involved in salivary gland morphogenesis LAMA1	GO:0060445	1 / 12	222×	4.49e-3	3.47e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Cerebellar ataxia, intellectual disability, and dysequilibrium	Dysequilibrium syndrome	0.857	6	5.41e-23	1.24e-21 ✓ sig.
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar ataxia, intellectual disability, and dysequilibrium	0.429	3	3.29e-11	3.62e-10 ✓ sig.
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Dysequilibrium syndrome	0.429	3	3.29e-11	3.62e-10 ✓ sig.
Cerebellar ataxia, intellectual disability, and dysequilibrium	Cerebellar ataxia, mental retardation, and dysequilibrium	0.286	2	1.27e-7	9.20e-7 ✓ sig.
Cerebellar ataxia, mental retardation, and dysequilibrium	Dysequilibrium syndrome	0.286	2	1.27e-7	9.20e-7 ✓ sig.
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Cerebellar hypoplasia	0.500	1	6.49e-5	2.34e-4 ✓ sig.
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar hypoplasia	0.250	1	1.95e-4	5.28e-4 ✓ sig.
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	0.250	1	1.95e-4	5.28e-4 ✓ sig.
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar ataxia, mental retardation, and dysequilibrium	0.200	1	3.90e-4	8.52e-4 ✓ sig.
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	0.200	1	3.90e-4	8.52e-4 ✓ sig.
Cerebellar ataxia, intellectual disability, and dysequilibrium	Cerebellar hypoplasia	0.143	1	3.90e-4	8.52e-4 ✓ sig.
Cerebellar ataxia, intellectual disability, and dysequilibrium	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	0.143	1	3.90e-4	8.52e-4 ✓ sig.
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Dysequilibrium syndrome	0.143	1	3.90e-4	8.52e-4 ✓ sig.
Cerebellar hypoplasia	Dysequilibrium syndrome	0.143	1	3.90e-4	8.52e-4 ✓ sig.
Cerebellar ataxia, intellectual disability, and dysequilibrium	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	0.125	1	7.79e-4	1.39e-3 ✓ sig.
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	Dysequilibrium syndrome	0.125	1	7.79e-4	1.39e-3 ✓ sig.

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