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 77

13 diseases · 24 shared-gene connections
13 Diseases
56 Unique genes
0.133 Avg. similarity score
Dyskeratosis congenita Most-connected disease (8 links)
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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.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Dyskeratosis congenita 8 8 26
Telomere-related pulmonary fibrosis and/or bone marrow failure 8 8 8
Hoyeraal hreidarsson syndrome 6 6 8
Telomere syndrome 6 6 5
Aplastic anemia 4 4 32
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 4 4 1
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 3 3 1
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 3 3 1
dyskeratosis congenita, autosomal recessive 3 2 2 1
White blood cell count quantitative trait locus 1 1 1
dyskeratosis congenita and related telomere biology disorder 1 1 1
dyskeratosis congenita, autosomal recessive 2 1 1 1
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
PARN 5 / 13 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4, Telomere syndrome and 1 more
RTEL1 5 / 13 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, Telomere syndrome and 1 more
TERT 5 / 13 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Telomere syndrome and 1 more
POT1 4 / 13 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Telomere-related pulmonary fibrosis and/or bone marrow failure
ZCCHC8 4 / 13 Aplastic anemia, Dyskeratosis congenita, pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, Telomere-related pulmonary fibrosis and/or bone marrow failure
ACD 3 / 13 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome
DKC1 3 / 13 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome
WRAP53 3 / 13 Dyskeratosis congenita, dyskeratosis congenita, autosomal recessive 3, Telomere syndrome
ACKR1 2 / 13 Aplastic anemia, White blood cell count quantitative trait locus
DCLRE1B 2 / 13 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome
NAF1 2 / 13 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, Telomere-related pulmonary fibrosis and/or bone marrow failure
NHP2 2 / 13 Dyskeratosis congenita, dyskeratosis congenita, autosomal recessive 2
NOP10 2 / 13 Dyskeratosis congenita, Telomere-related pulmonary fibrosis and/or bone marrow failure
RPA1 2 / 13 dyskeratosis congenita and related telomere biology disorder, Telomere-related pulmonary fibrosis and/or bone marrow failure
TINF2 2 / 13 Dyskeratosis congenita, Hoyeraal hreidarsson 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 ⇵
Telomere Extension By Telomerase
TERT, DKC1, GAR1, NHP2, NOP10, POT1, RTEL1, TINF2, WRAP53, ACD
 Reactome 10 / 16 134× 1.63e-20 1.35e-17 ✓ sig.
rRNA modification in the nucleus and cytosol
DKC1, GAR1, NHP2, NOP10
 Reactome 4 / 12 71.5× 2.04e-7 1.22e-5 ✓ sig.
Allograft rejection
IFNG, PRF1, HLA-DQA1, HLA-DQB1, TNF
 KEGG 5 / 39 27.5× 9.37e-7 4.60e-5 ✓ sig.
Leishmaniasis
IFNG, HLA-DQA1, HLA-DQB1, TGFB1, TNF, JAK2
 KEGG 6 / 78 16.5× 1.55e-6 7.10e-5 ✓ sig.
Type I diabetes mellitus
IFNG, PRF1, HLA-DQA1, HLA-DQB1, TNF
 KEGG 5 / 44 24.4× 1.74e-6 7.81e-5 ✓ sig.
Graft-versus-host disease
IFNG, PRF1, HLA-DQA1, HLA-DQB1, TNF
 KEGG 5 / 45 23.8× 1.95e-6 8.59e-5 ✓ sig.
Malaria
CSF3, IFNG, TGFB1, TNF, ACKR1
 KEGG 5 / 50 21.4× 3.32e-6 1.35e-4 ✓ sig.
Telomere C-strand synthesis initiation
CTC1, POLA1, POLA2
 Reactome 3 / 7 91.9× 3.32e-6 1.35e-4 ✓ sig.
Rheumatoid arthritis
CSF2, IFNG, HLA-DQA1, HLA-DQB1, TGFB1, TNF
 KEGG 6 / 95 13.5× 4.93e-6 1.88e-4 ✓ sig.
Hematopoietic cell lineage
CSF2, CSF3, HLA-DQA1, HLA-DQB1, THPO, TNF
 KEGG 6 / 100 12.9× 6.64e-6 2.38e-4 ✓ sig.
Toxoplasmosis
IFNG, HLA-DQA1, HLA-DQB1, TGFB1, TNF, JAK2
 KEGG 6 / 112 11.5× 1.28e-5 4.12e-4 ✓ sig.
Inflammatory bowel disease
IFNG, HLA-DQA1, HLA-DQB1, TGFB1, TNF
 KEGG 5 / 66 16.2× 1.32e-5 4.23e-4 ✓ sig.
DNA Damage/Telomere Stress Induced Senescence
NBN, POT1, TINF2, TP53, ACD
 Reactome 5 / 66 16.2× 1.32e-5 4.23e-4 ✓ sig.
Removal of the Flap Intermediate
RPA1, POLA1, POLA2
 Reactome 3 / 14 46.0× 3.37e-5 9.22e-4 ✓ sig.
Pyrimidine biosynthesis
CAD, UMPS
 Reactome 2 / 3 143× 6.39e-5 1.56e-3 ✓ 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 ⇵
telomere maintenance via telomerase
TERT, DKC1, GAR1, NHP2, NOP10, POT1, WRAP53, ACD, RPA1
 GO:0007004 9 / 24 125× 1.25e-17 1.45e-14 ✓ sig.
telomere maintenance
NBN, TERT, CTC1, DCLRE1B, POT1, RTEL1, ACD, RPA1
 GO:0000723 8 / 66 40.4× 1.94e-11 6.66e-9 ✓ sig.
telomere capping
CTC1, DCLRE1B, POT1, TINF2, ACD
 GO:0016233 5 / 12 139× 1.57e-10 4.31e-8 ✓ sig.
telomerase RNA localization to Cajal body
NHP2, NOP10, WRAP53, NAF1
 GO:0090671 4 / 7 191× 2.51e-9 5.05e-7 ✓ sig.
negative regulation of telomere maintenance via telomerase
CTC1, POT1, TINF2, TP53, ACD
 GO:0032211 5 / 22 75.8× 5.10e-9 9.49e-7 ✓ sig.
positive regulation of telomere maintenance via telomerase
DKC1, PARN, POT1, WRAP53, NAF1
 GO:0032212 5 / 23 72.5× 6.50e-9 1.18e-6 ✓ sig.
snRNA pseudouridine synthesis
DKC1, NHP2, NOP10
 GO:0031120 3 / 3 334× 2.55e-8 3.84e-6 ✓ sig.
telomere assembly
POT1, TINF2, ACD
 GO:0032202 3 / 3 334× 2.55e-8 3.84e-6 ✓ sig.
snoRNA guided rRNA pseudouridine synthesis
GAR1, NHP2, NAF1
 GO:0000454 3 / 3 334× 2.55e-8 3.84e-6 ✓ sig.
positive regulation of telomere maintenance
NBN, POT1, RTEL1, TINF2, ACD
 GO:0032206 5 / 32 52.1× 3.81e-8 5.38e-6 ✓ sig.
ribosome biogenesis
SBDS, DKC1, GAR1, NHP2, NOP10, NPM1, NAF1
 GO:0042254 7 / 122 19.1× 7.56e-8 9.52e-6 ✓ sig.
telomerase RNA stabilization
DKC1, PARN, NAF1
 GO:0090669 3 / 4 250× 1.02e-7 1.23e-5 ✓ sig.
rRNA pseudouridine synthesis
DKC1, NHP2, NOP10
 GO:0031118 3 / 4 250× 1.02e-7 1.23e-5 ✓ sig.
pseudouridine synthesis
DKC1, GAR1, NOP10, NAF1
 GO:0001522 4 / 16 83.4× 1.28e-7 1.48e-5 ✓ sig.
rRNA processing
SBDS, DKC1, RPL5, GAR1, NHP2, NOP10, NAF1
 GO:0006364 7 / 162 14.4× 5.25e-7 4.86e-5 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Dyskeratosis congenita Hoyeraal hreidarsson syndrome 0.296 8 2.00e-23 4.73e-22 ✓ sig.
Dyskeratosis congenita Telomere-related pulmonary fibrosis and/or bone marrow failure 0.207 6 3.48e-16 5.69e-15 ✓ sig.
Hoyeraal hreidarsson syndrome Telomere-related pulmonary fibrosis and/or bone marrow failure 0.308 4 2.09e-12 2.56e-11 ✓ sig.
Dyskeratosis congenita Telomere syndrome 0.143 4 3.19e-11 3.53e-10 ✓ sig.
Telomere syndrome Telomere-related pulmonary fibrosis and/or bone marrow failure 0.273 3 9.20e-10 8.83e-9 ✓ sig.
Hoyeraal hreidarsson syndrome Telomere syndrome 0.273 3 9.20e-10 8.83e-9 ✓ sig.
Aplastic anemia Hoyeraal hreidarsson syndrome 0.108 4 1.07e-9 1.02e-8 ✓ sig.
Aplastic anemia Dyskeratosis congenita 0.093 5 1.78e-9 1.67e-8 ✓ sig.
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Telomere syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Telomere syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
dyskeratosis congenita, autosomal recessive 3 Telomere syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 Telomere-related pulmonary fibrosis and/or bone marrow failure 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Hoyeraal hreidarsson syndrome pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0.111 1 5.20e-4 1.04e-3 ✓ sig.
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Telomere-related pulmonary fibrosis and/or bone marrow failure 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Hoyeraal hreidarsson syndrome pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0.111 1 5.20e-4 1.04e-3 ✓ sig.
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Telomere-related pulmonary fibrosis and/or bone marrow failure 0.111 1 5.20e-4 1.04e-3 ✓ sig.
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 Telomere-related pulmonary fibrosis and/or bone marrow failure 0.111 1 5.20e-4 1.04e-3 ✓ sig.
dyskeratosis congenita and related telomere biology disorder Telomere-related pulmonary fibrosis and/or bone marrow failure 0.111 1 5.20e-4 1.04e-3 ✓ sig.
Dyskeratosis congenita dyskeratosis congenita, autosomal recessive 3 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Dyskeratosis congenita dyskeratosis congenita, autosomal recessive 2 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Dyskeratosis congenita pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Dyskeratosis congenita pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0.037 1 1.69e-3 2.51e-3 ✓ sig.
Aplastic anemia pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0.030 1 2.08e-3 2.95e-3 ✓ sig.
Aplastic anemia White blood cell count quantitative trait locus 0.030 1 2.08e-3 2.95e-3 ✓ sig.