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Cluster 10

28 diseases · 47 shared-gene connections
28 Diseases
178 Unique genes
0.025 Avg. similarity score
Immunodeficiency Most-connected disease (21 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
CARMIL2 4 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency, severe combined immunodeficiency due to CARMIL2 deficiency
CD3G 4 / 28 Combined immunodeficiency disease, combined immunodeficiency due to CD3gamma deficiency, Immunodeficiency, Severe combined immunodeficiency
CTPS1 4 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency, severe combined immunodeficiency due to CTPS1 deficiency
LCK 4 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency, severe combined immunodeficiency due to LCK deficiency
STK4 4 / 28 Combined immunodeficiency disease, combined immunodeficiency due to STK4 deficiency, Immunodeficiency, Severe combined immunodeficiency
CARD11 3 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency
CD3D 3 / 28 Immunodeficiency, immunodeficiency 19, Severe combined immunodeficiency
CD3E 3 / 28 Immunodeficiency, immunodeficiency 18, Severe combined immunodeficiency
FOXN1 3 / 28 Combined immunodeficiency disease, Severe combined immunodeficiency, t-cell immunodeficiency, congenital alopecia, and nail dystrophy
GINS1 3 / 28 Combined immunodeficiency disease, combined immunodeficiency due to GINS1 deficiency, Immunodeficiency
IKBKB 3 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency
LRBA 3 / 28 Combined immunodeficiency disease, combined immunodeficiency due to LRBA deficiency, Severe combined immunodeficiency
MALT1 3 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency
MSN 3 / 28 Combined immunodeficiency disease, combined immunodeficiency due to moesin deficiency, Immunodeficiency
PGM3 3 / 28 Immunodeficiency, immunodeficiency 23, Severe combined immunodeficiency
RELB 3 / 28 Combined immunodeficiency disease, Immunodeficiency, immunodeficiency 53
TFRC 3 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency
TNFRSF4 3 / 28 Combined immunodeficiency disease, combined immunodeficiency due to OX40 deficiency, Immunodeficiency
ZAP70 3 / 28 Combined immunodeficiency disease, Immunodeficiency, Severe combined immunodeficiency
AK2 2 / 28 reticular dysgenesis, Severe combined immunodeficiency
ARPC1B 2 / 28 Combined immunodeficiency disease, Immunodeficiency
BCL11B 2 / 28 Combined immunodeficiency disease, Immunodeficiency
CD247 2 / 28 Immunodeficiency, Severe combined immunodeficiency
CD70 2 / 28 Combined immunodeficiency disease, Severe combined immunodeficiency
COPG1 2 / 28 Immunodeficiency, non-severe combined immunodeficiency due to COPG1 deficiency
CORO1A 2 / 28 Immunodeficiency, Severe combined immunodeficiency
DEF6 2 / 28 Immunodeficiency, immunodeficiency 87 and autoimmunity
DOCK2 2 / 28 Combined immunodeficiency disease, Immunodeficiency
DOCK8 2 / 28 Combined immunodeficiency disease, Severe combined immunodeficiency
DOP1A 2 / 28 Immunodeficiency, Severe combined immunodeficiency
ERBIN 2 / 28 autosomal dominant combined immunodeficiency due to ERBIN deficiency, Combined immunodeficiency disease
FCHO1 2 / 28 Combined immunodeficiency disease, Immunodeficiency
ICOSLG 2 / 28 Combined immunodeficiency disease, Immunodeficiency
IFNGR1 2 / 28 Immunodeficiency, Interferon gamma receptor deficiency
IFNGR2 2 / 28 Immunodeficiency, Interferon gamma receptor deficiency
IL21R 2 / 28 Combined immunodeficiency disease, Immunodeficiency
IL2RG 2 / 28 Combined immunodeficiency disease, Severe combined immunodeficiency
IL6ST 2 / 28 Combined immunodeficiency disease, Immunodeficiency
IL7R 2 / 28 Immunodeficiency, Severe combined immunodeficiency
IRF4 2 / 28 Combined immunodeficiency disease, Immunodeficiency
IRF9 2 / 28 Immunodeficiency, immunodeficiency 65, susceptibility to viral infections
JAK3 2 / 28 Severe combined immunodeficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
LAT 2 / 28 Immunodeficiency, Severe combined immunodeficiency
LCP2 2 / 28 Immunodeficiency, immunodeficiency 81
LIG1 2 / 28 Immunodeficiency, immunodeficiency 96
MCM10 2 / 28 Immunodeficiency, immunodeficiency 80 with or without congenital cardiomyopathy
MST1 2 / 28 Combined immunodeficiency disease, Immunodeficiency
NHEJ1 2 / 28 Immunodeficiency, Severe combined immunodeficiency
ORAI1 2 / 28 Combined immunodeficiency disease, Immunodeficiency
PNP 2 / 28 purine nucleoside phosphorylase deficiency, Severe combined immunodeficiency
POLD1 2 / 28 Combined immunodeficiency disease, Immunodeficiency
PRKDC 2 / 28 Immunodeficiency, Severe combined immunodeficiency
PTPRC 2 / 28 Immunodeficiency, Severe combined immunodeficiency
RAG1 2 / 28 Combined immunodeficiency disease, Severe combined immunodeficiency
RAG2 2 / 28 Immunodeficiency, Severe combined immunodeficiency
REL 2 / 28 Combined immunodeficiency disease, Immunodeficiency
SLC19A1 2 / 28 Combined immunodeficiency disease, Immunodeficiency
STIM1 2 / 28 Combined immunodeficiency disease, Immunodeficiency
TMEM50B 2 / 28 Immunodeficiency, Interferon gamma receptor deficiency
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 ⇵
Th17 cell differentiation KEGG 27 / 109 16.7× 5.41e-26 1.13e-22 ✓ sig.
Measles KEGG 29 / 139 14.1× 1.51e-25 2.92e-22 ✓ sig.
Primary immunodeficiency KEGG 19 / 38 33.7× 1.84e-25 3.44e-22 ✓ sig.
T cell receptor signaling pathway KEGG 26 / 122 14.4× 3.16e-23 4.36e-20 ✓ sig.
Th1 and Th2 cell differentiation KEGG 23 / 93 16.7× 3.07e-22 3.72e-19 ✓ sig.
Herpes simplex virus 1 infection KEGG 29 / 182 10.8× 4.85e-22 5.64e-19 ✓ sig.
Epstein-Barr virus infection KEGG 30 / 204 9.9× 9.85e-22 1.05e-18 ✓ sig.
PD-L1 expression and PD-1 checkpoint pathway in cancer KEGG 20 / 90 15.0× 1.84e-18 1.17e-15 ✓ sig.
Influenza A KEGG 25 / 173 9.8× 4.86e-18 2.82e-15 ✓ sig.
Toll-like receptor signaling pathway KEGG 21 / 109 13.0× 5.80e-18 3.29e-15 ✓ sig.
Osteoclast differentiation KEGG 23 / 142 10.9× 8.31e-18 4.59e-15 ✓ sig.
NF-kappa B signaling pathway KEGG 19 / 105 12.2× 8.14e-16 3.19e-13 ✓ sig.
NOD-like receptor signaling pathway KEGG 23 / 187 8.3× 4.26e-15 1.46e-12 ✓ sig.
JAK-STAT signaling pathway KEGG 22 / 168 8.8× 4.61e-15 1.57e-12 ✓ sig.
Chagas disease KEGG 18 / 103 11.8× 9.21e-15 2.91e-12 ✓ 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 ⇵
T cell activation GO:0042110 22 / 76 30.4× 4.23e-27 1.72e-23 ✓ sig.
immune system process GO:0002376 53 / 943 5.9× 8.31e-27 3.13e-23 ✓ sig.
T cell receptor signaling pathway GO:0050852 22 / 121 19.1× 3.12e-22 6.83e-19 ✓ sig.
T cell proliferation GO:0042098 15 / 51 30.9× 6.27e-19 8.57e-16 ✓ sig.
defense response to virus GO:0051607 24 / 247 10.2× 1.42e-17 1.60e-14 ✓ sig.
positive regulation of T cell proliferation GO:0042102 15 / 67 23.5× 5.96e-17 5.99e-14 ✓ sig.
cell surface receptor signaling pathway GO:0007166 27 / 373 7.6× 2.14e-16 1.90e-13 ✓ sig.
response to virus GO:0009615 18 / 128 14.8× 2.67e-16 2.33e-13 ✓ sig.
innate immune response GO:0045087 33 / 605 5.7× 3.22e-16 2.78e-13 ✓ sig.
positive regulation of canonical NF-kappaB signal transduction GO:0043123 22 / 232 10.0× 5.78e-16 4.74e-13 ✓ sig.
B cell differentiation GO:0030183 15 / 80 19.7× 1.03e-15 7.91e-13 ✓ sig.
T cell differentiation GO:0030217 13 / 54 25.3× 2.69e-15 1.96e-12 ✓ sig.
positive regulation of tumor necrosis factor production GO:0032760 16 / 113 14.9× 1.15e-14 7.43e-12 ✓ sig.
cytokine-mediated signaling pathway GO:0019221 17 / 145 12.3× 4.12e-14 2.42e-11 ✓ sig.
immune response GO:0006955 28 / 543 5.4× 2.92e-13 1.49e-10 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Combined immunodeficiency disease Immunodeficiency 0.179 28 1.17e-47 6.12e-46 ✓ sig.
Immunodeficiency Severe combined immunodeficiency 0.130 22 2.33e-32 8.15e-31 ✓ sig.
Combined immunodeficiency disease Severe combined immunodeficiency 0.200 16 5.94e-30 1.92e-28 ✓ sig.
Immunodeficiency Interferon gamma receptor deficiency 0.021 3 7.20e-7 4.58e-6 ✓ sig.
Combined immunodeficiency disease immunodeficiency 53 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease severe combined immunodeficiency due to CARMIL2 deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease severe combined immunodeficiency due to CTPS1 deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease combined immunodeficiency due to STK4 deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease combined immunodeficiency due to OX40 deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease severe combined immunodeficiency due to LCK deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease combined immunodeficiency due to moesin deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease combined immunodeficiency due to LRBA deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease combined immunodeficiency due to GINS1 deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease t-cell immunodeficiency, congenital alopecia, and nail dystrophy 0.022 1 2.86e-3 3.80e-3 ✓ sig.
autosomal dominant combined immunodeficiency due to ERBIN deficiency Combined immunodeficiency disease 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Combined immunodeficiency disease combined immunodeficiency due to CD3gamma deficiency 0.022 1 2.86e-3 3.80e-3 ✓ sig.
Severe combined immunodeficiency severe combined immunodeficiency due to LCK deficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
Severe combined immunodeficiency severe combined immunodeficiency due to CTPS1 deficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
Severe combined immunodeficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
Severe combined immunodeficiency severe combined immunodeficiency due to CARMIL2 deficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
reticular dysgenesis Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
purine nucleoside phosphorylase deficiency Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
Severe combined immunodeficiency t-cell immunodeficiency, congenital alopecia, and nail dystrophy 0.019 1 3.31e-3 4.30e-3 ✓ sig.
immunodeficiency 18 Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
combined immunodeficiency due to CD3gamma deficiency Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
combined immunodeficiency due to LRBA deficiency Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
combined immunodeficiency due to STK4 deficiency Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
immunodeficiency 19 Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
immunodeficiency 23 Severe combined immunodeficiency 0.019 1 3.31e-3 4.30e-3 ✓ sig.
Immunodeficiency severe combined immunodeficiency due to CARMIL2 deficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
combined immunodeficiency due to CD3gamma deficiency Immunodeficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
combined immunodeficiency due to GINS1 deficiency Immunodeficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency severe combined immunodeficiency due to LCK deficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 53 0.007 1 9.03e-3 1.03e-2 ✓ sig.
combined immunodeficiency due to moesin deficiency Immunodeficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency severe combined immunodeficiency due to CTPS1 deficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
combined immunodeficiency due to OX40 deficiency Immunodeficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 65, susceptibility to viral infections 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 81 0.007 1 9.03e-3 1.03e-2 ✓ sig.
combined immunodeficiency due to STK4 deficiency Immunodeficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 23 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 18 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 80 with or without congenital cardiomyopathy 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency non-severe combined immunodeficiency due to COPG1 deficiency 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 19 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 96 0.007 1 9.03e-3 1.03e-2 ✓ sig.
Immunodeficiency immunodeficiency 87 and autoimmunity 0.007 1 9.03e-3 1.03e-2 ✓ sig.