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 67

14 diseases · 25 shared-gene connections
14 Diseases
106 Unique genes
0.119 Avg. similarity score
Dyskeratosis congenita Most-connected disease (8 links)
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Disease Searched: Dyskeratosis congenita, autosomal recessive 8 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 29
Mds, aml 8 8 35
Hoyeraal hreidarsson syndrome 7 7 11
Aplastic anemia 5 5 35
Dyskeratosis congenita, autosomal dominant 1 4 4 1
Diamond-blackfan anemia 3 3 40
Dyskeratosis congenita, autosomal recessive 2 3 3 1
Telomere-related pulmonary fibrosis and/or bone marrow failure 3 3 8
Bone marrow failure syndromes 2 2 17
Diamond blackfan anemia with mandibulofacial dysostosis 2 2 1
Dyskeratosis congenita, autosomal recessive 8 2 2 1
Dyskeratosis congenita and related telomere biology disorder 1 1 1
Poikiloderma with neutropenia 1 1 1
White blood cell count quantitative trait locus 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
TERC 5 / 14 Aplastic anemia, Dyskeratosis congenita, Dyskeratosis congenita, autosomal dominant 1, Hoyeraal hreidarsson syndrome and 1 more
ACD 4 / 14 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Mds, aml
DKC1 4 / 14 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Mds, aml
NHP2 4 / 14 Dyskeratosis congenita, Dyskeratosis congenita, autosomal recessive 2, Hoyeraal hreidarsson syndrome, Mds, aml
NOP10 4 / 14 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Mds, aml, Telomere-related pulmonary fibrosis and/or bone marrow failure
POT1 4 / 14 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Telomere-related pulmonary fibrosis and/or bone marrow failure
RPL5 4 / 14 Aplastic anemia, Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RTEL1 4 / 14 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Mds, aml, Telomere-related pulmonary fibrosis and/or bone marrow failure
TERT 4 / 14 Aplastic anemia, Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Telomere-related pulmonary fibrosis and/or bone marrow failure
DCLRE1B 3 / 14 Dyskeratosis congenita, Dyskeratosis congenita, autosomal recessive 8, Hoyeraal hreidarsson syndrome
NAF1 3 / 14 Dyskeratosis congenita, Mds, aml, Telomere-related pulmonary fibrosis and/or bone marrow failure
PARN 3 / 14 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Telomere-related pulmonary fibrosis and/or bone marrow failure
RPL11 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RPL35A 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RPS10 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RPS19 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RPS24 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RPS26 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
RPS28 3 / 14 Diamond blackfan anemia with mandibulofacial dysostosis, Diamond-blackfan anemia, Mds, aml
RPS7 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Mds, aml
TINF2 3 / 14 Dyskeratosis congenita, Hoyeraal hreidarsson syndrome, Mds, aml
TP53 3 / 14 Bone marrow failure syndromes, Diamond-blackfan anemia, Dyskeratosis congenita
ZCCHC8 3 / 14 Aplastic anemia, Dyskeratosis congenita, Telomere-related pulmonary fibrosis and/or bone marrow failure
ACKR1 2 / 14 Aplastic anemia, White blood cell count quantitative trait locus
CSF2 2 / 14 Aplastic anemia, Bone marrow failure syndromes
DIPK1A 2 / 14 Aplastic anemia, Diamond-blackfan anemia
GATA1 2 / 14 Diamond-blackfan anemia, Mds, aml
NPM1 2 / 14 Bone marrow failure syndromes, Dyskeratosis congenita
RPA1 2 / 14 Dyskeratosis congenita and related telomere biology disorder, Telomere-related pulmonary fibrosis and/or bone marrow failure
RPL15 2 / 14 Diamond-blackfan anemia, Mds, aml
RPL23 2 / 14 Diamond-blackfan anemia, Mds, aml
RPL26 2 / 14 Diamond-blackfan anemia, Mds, aml
RPL27 2 / 14 Diamond-blackfan anemia, Mds, aml
RPL31 2 / 14 Diamond-blackfan anemia, Mds, aml
RPL36 2 / 14 Diamond-blackfan anemia, Mds, aml
RPS17 2 / 14 Diamond-blackfan anemia, Mds, aml
RPS27 2 / 14 Diamond-blackfan anemia, Mds, aml
RPS27A 2 / 14 Diamond-blackfan anemia, Mds, aml
RPS29 2 / 14 Diamond-blackfan anemia, Mds, aml
SBDS 2 / 14 Aplastic anemia, Mds, aml
STN1 2 / 14 Dyskeratosis congenita, Mds, aml
USB1 2 / 14 Dyskeratosis congenita, Poikiloderma with neutropenia
WRAP53 2 / 14 Dyskeratosis congenita, Mds, aml
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 ⇵
SRP-dependent cotranslational protein targeting to membrane
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 28 / 93 34.1× 1.89e-36 1.15e-32 ✓ sig.
Viral mRNA Translation
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 89 34.4× 3.04e-35 1.44e-31 ✓ sig.
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 95 32.2× 2.33e-34 1.03e-30 ✓ sig.
Formation of a pool of free 40S subunits
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 101 30.3× 1.53e-33 6.32e-30 ✓ sig.
L13a-mediated translational silencing of Ceruloplasmin expression
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 111 27.6× 2.68e-32 9.80e-29 ✓ sig.
GTP hydrolysis and joining of the 60S ribosomal subunit
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 112 27.3× 3.51e-32 1.25e-28 ✓ sig.
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 115 26.6× 7.75e-32 2.61e-28 ✓ sig.
Ribosome
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS10-NUDT3, RPS15A, RPS17
 KEGG 28 / 171 18.6× 2.64e-28 6.90e-25 ✓ sig.
Coronavirus disease - COVID-19
CSF2, CSF3, RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS10-NUDT3
 KEGG 31 / 238 14.8× 3.44e-28 8.79e-25 ✓ sig.
Major pathway of rRNA processing in the nucleolus and cytosol
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 Reactome 27 / 184 16.6× 5.99e-26 1.11e-22 ✓ sig.
Telomere Extension By Telomerase
TERT, DKC1, GAR1, NHP2, NOP10, POT1, RTEL1, TINF2, WRAP53, ACD
 Reactome 10 / 16 70.8× 1.42e-17 7.15e-15 ✓ sig.
Formation of the ternary complex, and subsequently, the 43S complex
RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RPS15, RPS27
 Reactome 13 / 51 28.9× 3.34e-16 1.28e-13 ✓ sig.
Translation initiation complex formation
RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RPS15, RPS27
 Reactome 13 / 58 25.4× 2.10e-15 6.81e-13 ✓ sig.
Ribosomal scanning and start codon recognition
RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RPS15, RPS27
 Reactome 13 / 58 25.4× 2.10e-15 6.81e-13 ✓ sig.
rRNA modification in the nucleus and cytosol
DKC1, GAR1, NHP2, NOP10
 Reactome 4 / 12 37.8× 2.69e-6 9.74e-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 ⇵
cytoplasmic translation
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 GO:0002181 27 / 126 37.8× 9.46e-36 8.01e-32 ✓ sig.
translation
RPL11, RPL15, RPL18, RPL26, RPL35, RPL35A, RPL5, RPL8, RPS10, RPS15A, RPS17, RPS19
 GO:0006412 27 / 310 15.4× 1.00e-24 3.01e-21 ✓ sig.
rRNA processing
SBDS, RPL11, RPL26, RPL35A, RPL5, RPS17, RPS19, RPS24, RPS28, RPS7, TSR2, DKC1
 GO:0006364 19 / 162 20.7× 5.28e-20 8.41e-17 ✓ sig.
telomere maintenance via telomerase
TERT, DKC1, GAR1, NHP2, NOP10, POT1, WRAP53, ACD, RPA1, TERC
 GO:0007004 10 / 24 73.5× 4.10e-17 4.27e-14 ✓ sig.
ribosomal small subunit biogenesis
RPS15A, RPS17, RPS19, RPS24, RPS28, RPS7, NPM1, RPS15, RPS27, RPS27A
 GO:0042274 10 / 75 23.5× 1.36e-11 5.08e-9 ✓ sig.
telomere capping
CTC1, DCLRE1B, POT1, TINF2, ACD, STN1
 GO:0016233 6 / 12 88.1× 2.59e-11 9.02e-9 ✓ sig.
telomere maintenance
NBN, TERT, CTC1, DCLRE1B, POT1, RTEL1, ACD, RPA1, STN1
 GO:0000723 9 / 66 24.0× 1.22e-10 3.65e-8 ✓ sig.
negative regulation of telomere maintenance via telomerase
TP53, CTC1, POT1, TINF2, ACD, STN1
 GO:0032211 6 / 22 48.1× 2.00e-9 4.25e-7 ✓ sig.
ribosome biogenesis
SBDS, HEATR3, RPS28, DKC1, NPM1, GAR1, NHP2, NOP10, NAF1
 GO:0042254 9 / 122 13.0× 3.09e-8 4.71e-6 ✓ sig.
telomerase RNA localization to Cajal body
NHP2, NOP10, WRAP53, NAF1
 GO:0090671 4 / 7 101× 3.38e-8 5.09e-6 ✓ sig.
ribosomal large subunit biogenesis
HEATR3, RPL11, RPL26, RPL35A, RPL5, NPM1
 GO:0042273 6 / 39 27.1× 8.09e-8 1.07e-5 ✓ sig.
negative regulation of ubiquitin protein ligase activity
RPL11, RPL5, RPS7, RPL23
 GO:1904667 4 / 9 78.4× 1.21e-7 1.48e-5 ✓ sig.
positive regulation of telomere maintenance via telomerase
DKC1, PARN, POT1, WRAP53, NAF1
 GO:0032212 5 / 23 38.3× 1.66e-7 1.94e-5 ✓ sig.
snRNA pseudouridine synthesis
DKC1, NHP2, NOP10
 GO:0031120 3 / 3 176× 1.77e-7 2.04e-5 ✓ sig.
telomere assembly
POT1, TINF2, ACD
 GO:0032202 3 / 3 176× 1.77e-7 2.04e-5 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Diamond-blackfan anemia Mds, aml 0.364 20 8.59e-46 2.18e-44 ✓ sig.
Dyskeratosis congenita Hoyeraal hreidarsson syndrome 0.379 11 6.99e-32 1.43e-30 ✓ sig.
Dyskeratosis congenita Mds, aml 0.185 10 1.08e-20 1.61e-19 ✓ sig.
Dyskeratosis congenita Telomere-related pulmonary fibrosis and/or bone marrow failure 0.233 7 2.23e-19 3.20e-18 ✓ sig.
Bone marrow failure syndromes Mds, aml 0.182 8 3.65e-18 5.01e-17 ✓ sig.
Bone marrow failure syndromes Diamond-blackfan anemia 0.167 8 9.52e-18 1.29e-16 ✓ sig.
Hoyeraal hreidarsson syndrome Mds, aml 0.175 7 5.21e-17 6.84e-16 ✓ sig.
Hoyeraal hreidarsson syndrome Telomere-related pulmonary fibrosis and/or bone marrow failure 0.333 5 3.48e-15 4.24e-14 ✓ sig.
Aplastic anemia Hoyeraal hreidarsson syndrome 0.119 5 2.00e-11 1.98e-10 ✓ sig.
Aplastic anemia Dyskeratosis congenita 0.103 6 3.08e-11 3.01e-10 ✓ sig.
Aplastic anemia Mds, aml 0.076 5 1.35e-8 1.06e-7 ✓ sig.
Dyskeratosis congenita and related telomere biology disorder Telomere-related pulmonary fibrosis and/or bone marrow failure 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Dyskeratosis congenita, autosomal dominant 1 Hoyeraal hreidarsson syndrome 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Dyskeratosis congenita, autosomal recessive 2 Hoyeraal hreidarsson syndrome 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Dyskeratosis congenita, autosomal recessive 8 Hoyeraal hreidarsson syndrome 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Dyskeratosis congenita Poikiloderma with neutropenia 0.034 1 1.81e-3 2.49e-3 ✓ sig.
Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 1 0.034 1 1.81e-3 2.49e-3 ✓ sig.
Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 8 0.034 1 1.81e-3 2.49e-3 ✓ sig.
Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 2 0.034 1 1.81e-3 2.49e-3 ✓ sig.
Dyskeratosis congenita, autosomal recessive 2 Mds, aml 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Dyskeratosis congenita, autosomal dominant 1 Mds, aml 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Aplastic anemia Dyskeratosis congenita, autosomal dominant 1 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Diamond blackfan anemia with mandibulofacial dysostosis Mds, aml 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Aplastic anemia White blood cell count quantitative trait locus 0.028 1 2.26e-3 2.99e-3 ✓ sig.
Diamond blackfan anemia with mandibulofacial dysostosis Diamond-blackfan anemia 0.025 1 2.52e-3 3.27e-3 ✓ sig.