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Cluster 451

6 diseases · 10 shared-gene connections

6 Diseases

9 Unique genes

0.317 Avg. similarity score

Autosomal recessive spinocerebellar ataxia 2 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.

Autosomal recessive spinocerebellar ataxia 2 Cerebelloparenchymal disorder Normal pressure hydrocephalus Spinocerebellar ataxia, autosomal recessive 2 ar Ptosis Spermatogenic failure 19

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Autosomal recessive spinocerebellar ataxia 2	4	4	1
Cerebelloparenchymal disorder	4	4	1
Normal pressure hydrocephalus	4	4	2
Spinocerebellar ataxia, autosomal recessive 2 ar	4	4	1
Ptosis	3	3	8
Spermatogenic failure 19	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
PMPCA	5 / 6	Autosomal recessive spinocerebellar ataxia 2, Cerebelloparenchymal disorder, Normal pressure hydrocephalus, Ptosis and 1 more
CFAP43	2 / 6	Normal pressure hydrocephalus, Spermatogenic failure 19

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 ⇵
Formation of annular gap junctions ACTG1	Reactome	1 / 11	121×	8.22e-3	5.04e-2
Cell-extracellular matrix interactions ACTG1	Reactome	1 / 12	111×	8.96e-3	5.31e-2
Gap junction degradation ACTG1	Reactome	1 / 12	111×	8.96e-3	5.31e-2
Interaction between L1 and Ankyrins ACTG1	Reactome	1 / 13	103×	9.70e-3	5.59e-2
Processing of SMDT1 PMPCA	Reactome	1 / 16	83.4×	1.19e-2	6.32e-2
Adherens junctions interactions ACTG1	Reactome	1 / 32	41.7×	2.37e-2	9.46e-2
RHO GTPases activate IQGAPs ACTG1	Reactome	1 / 32	41.7×	2.37e-2	9.46e-2
RHO GTPases Activate WASPs and WAVEs ACTG1	Reactome	1 / 36	37.1×	2.67e-2	1.01e-1
Signaling by high-kinase activity BRAF mutants ACTG1	Reactome	1 / 36	37.1×	2.67e-2	1.01e-1
EPHB-mediated forward signaling ACTG1	Reactome	1 / 39	34.2×	2.89e-2	1.06e-1
MAP2K and MAPK activation ACTG1	Reactome	1 / 40	33.4×	2.96e-2	1.07e-1
Recycling pathway of L1 ACTG1	Reactome	1 / 40	33.4×	2.96e-2	1.07e-1
Signaling by moderate kinase activity BRAF mutants ACTG1	Reactome	1 / 47	28.4×	3.47e-2	1.17e-1
Paradoxical activation of RAF signaling by kinase inactive BRAF ACTG1	Reactome	1 / 47	28.4×	3.47e-2	1.17e-1
Signaling downstream of RAS mutants ACTG1	Reactome	1 / 47	28.4×	3.47e-2	1.17e-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 ⇵
establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis FAT1	GO:0003412	1 / 1	2,076×	4.82e-4	9.24e-3 ✓ sig.
positive regulation of protein geranylgeranylation MUSK	GO:2000541	1 / 1	2,076×	4.82e-4	9.24e-3 ✓ sig.
negative regulation of DNA methylation-dependent heterochromatin formation KMT2A	GO:0090310	1 / 2	1,038×	9.63e-4	1.42e-2 ✓ sig.
positive regulation of gene expression KMT2A, MUSK, ACTG1	GO:0010628	3 / 504	12.4×	1.45e-3	1.80e-2 ✓ sig.
regulation of transepithelial transport ACTG1	GO:0150111	1 / 4	519×	1.93e-3	2.07e-2 ✓ sig.
protein processing involved in protein targeting to mitochondrion PMPCA	GO:0006627	1 / 5	415×	2.41e-3	2.32e-2 ✓ sig.
cardiolipin biosynthetic process TAMM41	GO:0032049	1 / 5	415×	2.41e-3	2.32e-2 ✓ sig.
morphogenesis of a polarized epithelium ACTG1	GO:0001738	1 / 6	346×	2.89e-3	2.55e-2 ✓ sig.
protein localization to bicellular tight junction ACTG1	GO:1902396	1 / 6	346×	2.89e-3	2.55e-2 ✓ sig.
response to potassium ion KMT2A	GO:0035864	1 / 8	260×	3.85e-3	2.94e-2 ✓ sig.
tight junction assembly ACTG1	GO:0120192	1 / 8	260×	3.85e-3	2.94e-2 ✓ sig.
mitochondrial transcription TWNK	GO:0006390	1 / 8	260×	3.85e-3	2.94e-2 ✓ sig.
regulation of cilium beat frequency CFAP43	GO:0003356	1 / 8	260×	3.85e-3	2.94e-2 ✓ sig.
T-helper 2 cell differentiation KMT2A	GO:0045064	1 / 9	231×	4.33e-3	3.11e-2 ✓ sig.
skeletal muscle acetylcholine-gated channel clustering MUSK	GO:0071340	1 / 9	231×	4.33e-3	3.11e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Autosomal recessive spinocerebellar ataxia 2	Cerebelloparenchymal disorder	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Autosomal recessive spinocerebellar ataxia 2	Spinocerebellar ataxia, autosomal recessive 2 ar	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Cerebelloparenchymal disorder	Spinocerebellar ataxia, autosomal recessive 2 ar	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Autosomal recessive spinocerebellar ataxia 2	Normal pressure hydrocephalus	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Cerebelloparenchymal disorder	Normal pressure hydrocephalus	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Normal pressure hydrocephalus	Spermatogenic failure 19	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Normal pressure hydrocephalus	Spinocerebellar ataxia, autosomal recessive 2 ar	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Autosomal recessive spinocerebellar ataxia 2	Ptosis	0.111	1	5.17e-4	9.13e-4 ✓ sig.
Cerebelloparenchymal disorder	Ptosis	0.111	1	5.17e-4	9.13e-4 ✓ sig.
Ptosis	Spinocerebellar ataxia, autosomal recessive 2 ar	0.111	1	5.17e-4	9.13e-4 ✓ sig.

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