Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 132

10 diseases · 17 shared-gene connections
10 Diseases
51 Unique genes
0.153 Avg. similarity score
Hereditary breast and ovarian cancer syndrome Most-connected disease (7 links)
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Disease Searched: fanconi anemia, complementation group s 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.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Hereditary breast and ovarian cancer syndrome 7 7 15
Hereditary breast-ovarian cancer syndrome 6 6 5
Breast implant-associated anaplastic large cell lymphoma 5 5 6
BRCA1-related cancer predisposition 4 4 1
fanconi anemia, complementation group s 4 4 1
Fanconi anemia 3 3 39
RAD51D-related cancer predisposition 2 2 1
Autoinflammation, immune dysregulation, and eosinophilia 1 1 1
BARD1-related cancer predisposition 1 1 1
fanconi anemia complementation group f 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
BRCA1 6 / 10 BRCA1-related cancer predisposition, Breast implant-associated anaplastic large cell lymphoma, Fanconi anemia, fanconi anemia, complementation group s and 2 more
BRCA2 4 / 10 Breast implant-associated anaplastic large cell lymphoma, Fanconi anemia, Hereditary breast and ovarian cancer syndrome, Hereditary breast-ovarian cancer syndrome
PALB2 3 / 10 Fanconi anemia, Hereditary breast and ovarian cancer syndrome, Hereditary breast-ovarian cancer syndrome
RAD51C 3 / 10 Fanconi anemia, Hereditary breast and ovarian cancer syndrome, Hereditary breast-ovarian cancer syndrome
RAD51D 3 / 10 Hereditary breast and ovarian cancer syndrome, Hereditary breast-ovarian cancer syndrome, RAD51D-related cancer predisposition
BARD1 2 / 10 BARD1-related cancer predisposition, Hereditary breast and ovarian cancer syndrome
BRIP1 2 / 10 Fanconi anemia, Hereditary breast and ovarian cancer syndrome
FANCF 2 / 10 Fanconi anemia, fanconi anemia complementation group f
JAK1 2 / 10 Autoinflammation, immune dysregulation, and eosinophilia, Breast implant-associated anaplastic large cell lymphoma
RAD51 2 / 10 Fanconi anemia, Hereditary breast and ovarian cancer syndrome
TP53 2 / 10 Breast implant-associated anaplastic large cell lymphoma, Hereditary breast and ovarian cancer 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 ⇵
Fanconi anemia pathway
BRCA1, BRCA2, RAD51C, PALB2, FANCM, BRIP1, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2
 KEGG 20 / 54 87.2× 1.45e-35 5.56e-32 ✓ sig.
Fanconi Anemia Pathway
FANCM, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL
 Reactome 15 / 40 88.3× 1.01e-26 2.12e-23 ✓ sig.
Resolution of D-loop Structures through Holliday Junction Intermediates
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, BRIP1, RAD51, SLX4, XRCC2, ATM, BARD1, MRE11
 Reactome 14 / 33 99.9× 6.78e-26 1.27e-22 ✓ sig.
Homologous DNA Pairing and Strand Exchange
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, BRIP1, RAD51, XRCC2, ATM, BARD1, MRE11, NBN
 Reactome 13 / 25 122× 1.39e-25 2.48e-22 ✓ sig.
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, BRIP1, RAD51, XRCC2, ATM, BARD1, MRE11, NBN
 Reactome 13 / 26 118× 2.76e-25 4.44e-22 ✓ sig.
Homologous recombination
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, BRIP1, RAD51, XRCC2, ATM, BARD1, MRE11, NBN
 KEGG 13 / 41 74.7× 4.48e-22 4.60e-19 ✓ sig.
HDR through Homologous Recombination (HRR)
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, BRIP1, RAD51, XRCC2, ATM, BARD1, MRE11, NBN
 Reactome 13 / 48 63.8× 4.80e-21 3.75e-18 ✓ sig.
Presynaptic phase of homologous DNA pairing and strand exchange
BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, RAD51, XRCC2, ATM, BARD1, MRE11, NBN, RAD50
 Reactome 12 / 39 72.5× 3.06e-20 2.22e-17 ✓ sig.
HDR through Single Strand Annealing (SSA)
BRCA1, BRIP1, ERCC4, RAD51, ATM, BARD1, MRE11, NBN, RAD50
 Reactome 9 / 37 57.3× 2.43e-14 6.56e-12 ✓ sig.
G2/M DNA damage checkpoint
BRCA1, TP53, BRIP1, ATM, BARD1, CHEK2, MRE11, NBN, RAD50
 Reactome 9 / 84 25.2× 6.19e-11 8.82e-9 ✓ sig.
Regulation of TP53 Activity through Phosphorylation
BRCA1, TP53, BRIP1, ATM, BARD1, CHEK2, MRE11, NBN, RAD50
 Reactome 9 / 92 23.0× 1.42e-10 1.88e-8 ✓ sig.
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
BRCA1, TP53, ATM, BARD1, CHEK2, MRE11, NBN, RAD50
 Reactome 8 / 76 24.8× 9.02e-10 9.76e-8 ✓ sig.
Sensing of DNA Double Strand Breaks
ATM, MRE11, NBN, RAD50
 Reactome 4 / 6 157× 4.30e-9 3.99e-7 ✓ sig.
TP53 Regulates Transcription of DNA Repair Genes
BRCA1, TP53, RAD51D, FANCC, FANCD2, FANCI, ATM
 Reactome 7 / 65 25.4× 9.37e-9 7.97e-7 ✓ sig.
Processing of DNA double-strand break ends
BRCA1, BRIP1, ATM, BARD1, MRE11, NBN, RAD50
 Reactome 7 / 98 16.8× 1.67e-7 1.03e-5 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
DNA repair
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, FANCM, BRIP1, ERCC4, FAAP100, FANCA, FANCB, FANCC
 GO:0006281 33 / 420 28.8× 2.21e-42 2.66e-38 ✓ sig.
DNA damage response
BRCA1, BRCA2, TP53, RAD51C, RAD51D, PALB2, FANCM, BRIP1, ERCC4, FAAP100, FANCA, FANCB
 GO:0006974 34 / 577 21.6× 1.54e-39 1.58e-35 ✓ sig.
interstrand cross-link repair
RAD51D, FANCM, BRIP1, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI
 GO:0036297 17 / 39 160× 6.29e-35 4.48e-31 ✓ sig.
double-strand break repair via homologous recombination
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, ERCC4, RAD51, RFWD3, SLX4, XRCC2, ATM, MRE11
 GO:0000724 14 / 119 43.1× 8.70e-20 1.33e-16 ✓ sig.
double-strand break repair
BRCA1, BRCA2, TP53, BRIP1, MAD2L2, VCP, ATM, CHEK2, MRE11, NBN, RAD50
 GO:0006302 11 / 87 46.3× 4.74e-16 3.84e-13 ✓ sig.
homologous recombination
BRCA1, FANCM, BRIP1, BARD1, MRE11, NBN, RAD50
 GO:0035825 7 / 12 214× 5.75e-16 4.57e-13 ✓ sig.
DNA recombination
BRCA1, BRCA2, RAD51C, RAD51D, PALB2, RAD51, SLX4, XRCC2, MRE11, RAD50
 GO:0006310 10 / 110 33.3× 3.44e-13 1.68e-10 ✓ sig.
DNA strand resection involved in replication fork processing
BRCA1, ATM, BARD1, MRE11, NBN, RAD50
 GO:0110025 6 / 14 157× 9.00e-13 4.08e-10 ✓ sig.
telomeric 3' overhang formation
DCLRE1B, MRE11, NBN, RAD50
 GO:0031860 4 / 4 366× 4.92e-11 1.51e-8 ✓ sig.
telomere maintenance via recombination
BRCA2, RAD51C, RAD51D, RAD51, RAD50
 GO:0000722 5 / 11 167× 5.65e-11 1.71e-8 ✓ sig.
reciprocal meiotic recombination
RAD51C, RAD51D, RAD51, ATM, MRE11, RAD50
 GO:0007131 6 / 33 66.6× 3.19e-10 7.90e-8 ✓ sig.
regulation of DNA damage checkpoint
BRCA1, BRCA2, RAD51, RFWD3, BARD1
 GO:2000001 5 / 15 122× 3.64e-10 8.86e-8 ✓ sig.
telomere maintenance
RAD51D, ERCC4, DCLRE1B, ATM, MRE11, NBN, RAD50
 GO:0000723 7 / 66 38.9× 5.06e-10 1.19e-7 ✓ sig.
cellular response to ionizing radiation
BRCA1, BRCA2, TP53, RAD51, TNF, BARD1
 GO:0071479 6 / 41 53.6× 1.27e-9 2.71e-7 ✓ sig.
nucleotide-excision repair
BRCA2, TP53, BRIP1, ERCC4, FANCC, SLX4
 GO:0006289 6 / 42 52.3× 1.48e-9 3.11e-7 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Hereditary breast and ovarian cancer syndrome Hereditary breast-ovarian cancer syndrome 0.313 5 4.17e-16 6.43e-15 ✓ sig.
Fanconi anemia Hereditary breast and ovarian cancer syndrome 0.122 6 8.68e-13 1.06e-11 ✓ sig.
Fanconi anemia Hereditary breast-ovarian cancer syndrome 0.098 4 1.75e-10 1.71e-9 ✓ sig.
Breast implant-associated anaplastic large cell lymphoma Hereditary breast and ovarian cancer syndrome 0.158 3 1.49e-8 1.18e-7 ✓ sig.
Breast implant-associated anaplastic large cell lymphoma Hereditary breast-ovarian cancer syndrome 0.200 2 1.26e-6 7.31e-6 ✓ sig.
BRCA1-related cancer predisposition fanconi anemia, complementation group s 0.500 1 6.49e-5 2.32e-4 ✓ sig.
BRCA1-related cancer predisposition Hereditary breast-ovarian cancer syndrome 0.167 1 3.25e-4 7.68e-4 ✓ sig.
Hereditary breast-ovarian cancer syndrome RAD51D-related cancer predisposition 0.167 1 3.25e-4 7.68e-4 ✓ sig.
fanconi anemia, complementation group s Hereditary breast-ovarian cancer syndrome 0.167 1 3.25e-4 7.68e-4 ✓ sig.
Autoinflammation, immune dysregulation, and eosinophilia Breast implant-associated anaplastic large cell lymphoma 0.143 1 3.90e-4 8.64e-4 ✓ sig.
BRCA1-related cancer predisposition Breast implant-associated anaplastic large cell lymphoma 0.143 1 3.90e-4 8.64e-4 ✓ sig.
Breast implant-associated anaplastic large cell lymphoma fanconi anemia, complementation group s 0.143 1 3.90e-4 8.64e-4 ✓ sig.
Hereditary breast and ovarian cancer syndrome RAD51D-related cancer predisposition 0.063 1 9.74e-4 1.66e-3 ✓ sig.
fanconi anemia, complementation group s Hereditary breast and ovarian cancer syndrome 0.063 1 9.74e-4 1.66e-3 ✓ sig.
BRCA1-related cancer predisposition Hereditary breast and ovarian cancer syndrome 0.063 1 9.74e-4 1.66e-3 ✓ sig.
BARD1-related cancer predisposition Hereditary breast and ovarian cancer syndrome 0.063 1 9.74e-4 1.66e-3 ✓ sig.
Fanconi anemia fanconi anemia complementation group f 0.025 1 2.53e-3 3.45e-3 ✓ sig.