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Cluster 606

5 diseases · 7 shared-gene connections

5 Diseases

2 Unique genes

0.405 Avg. similarity score

Circumferential skin creases kunze type 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.

Circumferential skin creases kunze type Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type) Skin creases, congenital symmetric circumferential, 1 Skin creases, congenital symmetric circumferential, 2 Symmetric circumferential skin creases, congenital, 2

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Circumferential skin creases kunze type	4	4	2
Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type)	3	3	1
Skin creases, congenital symmetric circumferential, 1	3	3	1
Skin creases, congenital symmetric circumferential, 2	3	3	1
Symmetric circumferential skin creases, congenital, 2	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
TUBB	4 / 5	Circumferential skin creases kunze type, Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type), Skin creases, congenital symmetric circumferential, 1, Skin creases, congenital symmetric circumferential, 2
MAPRE2	2 / 5	Circumferential skin creases kunze type, Symmetric circumferential skin creases, congenital, 2

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)

None of these pathways reaches significance (all FDR q ≥ 0.05). They’re the best candidates found, but treat them as weak evidence for why this cluster groups together.

Pathway ⇵	Source ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
Loss of Nlp from mitotic centrosomes TUBB	Reactome	1 / 70	85.8×	1.16e-2	6.22e-2
Loss of proteins required for interphase microtubule organization from the centrosome TUBB	Reactome	1 / 70	85.8×	1.16e-2	6.22e-2
AURKA Activation by TPX2 TUBB	Reactome	1 / 73	82.3×	1.21e-2	6.40e-2
Recruitment of mitotic centrosome proteins and complexes TUBB	Reactome	1 / 82	73.2×	1.36e-2	6.86e-2
Regulation of PLK1 Activity at G2/M Transition TUBB	Reactome	1 / 88	68.2×	1.46e-2	7.14e-2
Gap junction TUBB	KEGG	1 / 89	67.5×	1.48e-2	7.21e-2
Recruitment of NuMA to mitotic centrosomes TUBB	Reactome	1 / 94	63.9×	1.56e-2	7.44e-2
Anchoring of the basal body to the plasma membrane TUBB	Reactome	1 / 98	61.3×	1.63e-2	7.61e-2
Phagosome TUBB	KEGG	1 / 155	38.7×	2.56e-2	9.90e-2
Motor proteins TUBB	KEGG	1 / 194	31.0×	3.20e-2	1.12e-1
Pathogenic Escherichia coli infection TUBB	KEGG	1 / 200	30.0×	3.30e-2	1.14e-1
Salmonella infection TUBB	KEGG	1 / 248	24.2×	4.09e-2	1.29e-1
Parkinson disease TUBB	KEGG	1 / 268	22.4×	4.41e-2	1.35e-1
Prion disease TUBB	KEGG	1 / 275	21.8×	4.53e-2	1.37e-1
Huntington disease TUBB	KEGG	1 / 308	19.5×	5.06e-2	1.46e-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 ⇵
spindle assembly MAPRE2, TUBB	GO:0051225	2 / 40	467×	4.47e-6	2.89e-4 ✓ sig.
positive regulation of ARF protein signal transduction MAPRE2	GO:0032014	1 / 2	4,672×	2.14e-4	5.31e-3 ✓ sig.
cell division MAPRE2, TUBB	GO:0051301	2 / 406	46.0×	4.71e-4	9.15e-3 ✓ sig.
odontoblast differentiation TUBB	GO:0071895	1 / 8	1,168×	8.56e-4	1.33e-2 ✓ sig.
positive regulation of focal adhesion disassembly MAPRE2	GO:0120183	1 / 8	1,168×	8.56e-4	1.33e-2 ✓ sig.
protein localization to microtubule MAPRE2	GO:0035372	1 / 10	934×	1.07e-3	1.51e-2 ✓ sig.
positive regulation of keratinocyte migration MAPRE2	GO:0051549	1 / 12	779×	1.28e-3	1.67e-2 ✓ sig.
cytoskeleton-dependent intracellular transport TUBB	GO:0030705	1 / 14	667×	1.50e-3	1.82e-2 ✓ sig.
regulation of microtubule polymerization or depolymerization MAPRE2	GO:0031110	1 / 15	623×	1.60e-3	1.88e-2 ✓ sig.
regulation of synapse organization TUBB	GO:0050807	1 / 30	311×	3.21e-3	2.69e-2 ✓ sig.
natural killer cell mediated cytotoxicity TUBB	GO:0042267	1 / 41	228×	4.38e-3	3.14e-2 ✓ sig.
microtubule-based process TUBB	GO:0007017	1 / 46	203×	4.92e-3	3.31e-2 ✓ sig.
mitotic cell cycle TUBB	GO:0000278	1 / 142	65.8×	1.51e-2	5.68e-2
microtubule cytoskeleton organization TUBB	GO:0000226	1 / 149	62.7×	1.59e-2	5.83e-2

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type)	Skin creases, congenital symmetric circumferential, 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type)	Skin creases, congenital symmetric circumferential, 1	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Skin creases, congenital symmetric circumferential, 1	Skin creases, congenital symmetric circumferential, 2	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Circumferential skin creases kunze type	Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type)	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Circumferential skin creases kunze type	Skin creases, congenital symmetric circumferential, 2	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Circumferential skin creases kunze type	Skin creases, congenital symmetric circumferential, 1	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Circumferential skin creases kunze type	Symmetric circumferential skin creases, congenital, 2	0.333	1	1.29e-4	3.27e-4 ✓ sig.

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