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Cluster 218

9 diseases · 24 shared-gene connections

9 Diseases

7 Unique genes

0.365 Avg. similarity score

Bulbo-spinal atrophy, x-linked Most-connected disease (7 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: Bladder clear cell adenocarcinoma 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.

Bladder clear cell adenocarcinoma Bulbo-spinal atrophy, x-linked Kennedy disease Partial androgen insensitivity syndrome Androgen insensitivity syndrome Hypospadias 1, x-linked

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

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Bulbo-spinal atrophy, x-linked	7	7	1
Kennedy disease	7	7	1
Partial androgen insensitivity syndrome	7	7	1
Androgen insensitivity syndrome	6	6	2
Hypospadias 1, x-linked	6	6	1
Spinal and bulb muscul atrophy	6	6	1
Male breast neoplasms	5	5	4
Bladder clear cell adenocarcinoma	3	3	3
Meier-gorlin syndrome 7	1	1	1

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

Gene ⇵	Member diseases ⇵	Linked diseases
AR	8 / 9	Androgen insensitivity syndrome, Bladder clear cell adenocarcinoma, Bulbo-spinal atrophy, x-linked, Hypospadias 1, x-linked and 4 more
CDC45	2 / 9	Androgen insensitivity syndrome, Meier-gorlin syndrome 7

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 ⇵
APC truncation mutants are not K63 polyubiquitinated APC	Reactome	1 / 1	1,716×	5.83e-4	7.52e-3 ✓ sig.
Colorectal cancer MSH2, APC	KEGG	2 / 87	39.4×	1.06e-3	1.19e-2 ✓ sig.
Defective Mismatch Repair Associated With MSH6 MSH2	Reactome	1 / 2	858×	1.17e-3	1.27e-2 ✓ sig.
Defective Mismatch Repair Associated With MSH3 MSH2	Reactome	1 / 2	858×	1.17e-3	1.27e-2 ✓ sig.
Defective Mismatch Repair Associated With MSH2 MSH2	Reactome	1 / 3	572×	1.75e-3	1.73e-2 ✓ sig.
RUNX2 regulates osteoblast differentiation AR	Reactome	1 / 3	572×	1.75e-3	1.73e-2 ✓ sig.
Pathways in cancer AR, MSH2, APC	KEGG	3 / 533	9.7×	2.66e-3	2.34e-2 ✓ sig.
Cell cycle CDC45, CHEK2	KEGG	2 / 158	21.7×	3.46e-3	2.82e-2 ✓ sig.
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) MSH2	Reactome	1 / 10	172×	5.82e-3	4.03e-2 ✓ sig.
Stabilization of p53 CHEK2	Reactome	1 / 11	156×	6.40e-3	4.28e-2 ✓ sig.
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex CHEK2	Reactome	1 / 12	143×	6.97e-3	4.53e-2 ✓ sig.
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) MSH2	Reactome	1 / 14	123×	8.13e-3	5.01e-2
APC truncation mutants have impaired AXIN binding APC	Reactome	1 / 14	123×	8.13e-3	5.01e-2
AXIN missense mutants destabilize the destruction complex APC	Reactome	1 / 14	123×	8.13e-3	5.01e-2
Truncations of AMER1 destabilize the destruction complex APC	Reactome	1 / 14	123×	8.13e-3	5.01e-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 ⇵
mitotic intra-S DNA damage checkpoint signaling CHEK2, MSH2	GO:0031573	2 / 17	314×	1.63e-5	7.92e-4 ✓ sig.
DNA damage response CHEK2, RAD51B, MSH2, APC	GO:0006974	4 / 577	18.5×	2.92e-5	1.23e-3 ✓ sig.
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator CHEK2, MSH2	GO:0042771	2 / 33	162×	6.32e-5	2.20e-3 ✓ sig.
in utero embryonic development AR, RAD51B, MSH2	GO:0001701	3 / 252	31.8×	8.15e-5	2.66e-3 ✓ sig.
intrinsic apoptotic signaling pathway in response to DNA damage CHEK2, MSH2	GO:0008630	2 / 54	98.9×	1.71e-4	4.53e-3 ✓ sig.
DNA repair CHEK2, RAD51B, MSH2	GO:0006281	3 / 420	19.1×	3.69e-4	7.78e-3 ✓ sig.
male somatic sex determination AR	GO:0019102	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
prostate induction AR	GO:0060514	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
mitotic DNA replication preinitiation complex assembly CDC45	GO:1902977	1 / 1	2,670×	3.75e-4	7.81e-3 ✓ sig.
double-strand break repair CHEK2, MSH2	GO:0006302	2 / 87	61.4×	4.43e-4	8.75e-3 ✓ sig.
negative regulation of DNA damage checkpoint CHEK2	GO:2000002	1 / 2	1,335×	7.49e-4	1.23e-2 ✓ sig.
somatic recombination of immunoglobulin genes involved in immune response MSH2	GO:0002204	1 / 2	1,335×	7.49e-4	1.23e-2 ✓ sig.
regulation of developmental growth AR	GO:0048638	1 / 2	1,335×	7.49e-4	1.23e-2 ✓ sig.
lateral sprouting involved in mammary gland duct morphogenesis AR	GO:0060599	1 / 2	1,335×	7.49e-4	1.23e-2 ✓ sig.
regulation of prostatic bud formation AR	GO:0060685	1 / 2	1,335×	7.49e-4	1.23e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Hypospadias 1, x-linked	Partial androgen insensitivity syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Partial androgen insensitivity syndrome	Spinal and bulb muscul atrophy	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Kennedy disease	Spinal and bulb muscul atrophy	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Kennedy disease	Partial androgen insensitivity syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hypospadias 1, x-linked	Spinal and bulb muscul atrophy	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Hypospadias 1, x-linked	Kennedy disease	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked	Hypospadias 1, x-linked	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked	Spinal and bulb muscul atrophy	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked	Kennedy disease	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked	Partial androgen insensitivity syndrome	0.500	1	6.46e-5	1.98e-4 ✓ sig.
Androgen insensitivity syndrome	Bulbo-spinal atrophy, x-linked	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Androgen insensitivity syndrome	Hypospadias 1, x-linked	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Androgen insensitivity syndrome	Spinal and bulb muscul atrophy	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Androgen insensitivity syndrome	Kennedy disease	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Androgen insensitivity syndrome	Meier-gorlin syndrome 7	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Androgen insensitivity syndrome	Partial androgen insensitivity syndrome	0.333	1	1.29e-4	3.27e-4 ✓ sig.
Bladder clear cell adenocarcinoma	Kennedy disease	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Bladder clear cell adenocarcinoma	Partial androgen insensitivity syndrome	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Bladder clear cell adenocarcinoma	Bulbo-spinal atrophy, x-linked	0.250	1	1.94e-4	4.41e-4 ✓ sig.
Bulbo-spinal atrophy, x-linked	Male breast neoplasms	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Male breast neoplasms	Partial androgen insensitivity syndrome	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Kennedy disease	Male breast neoplasms	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Male breast neoplasms	Spinal and bulb muscul atrophy	0.200	1	2.58e-4	5.38e-4 ✓ sig.
Hypospadias 1, x-linked	Male breast neoplasms	0.200	1	2.58e-4	5.38e-4 ✓ sig.

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