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 103
12
Diseases
1,039
Unique genes
0.130
Avg. similarity score
Autoimmune disease
Most-connected disease (6 links)
Disease
Searched: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
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Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Autoimmune disease
Autoimmune thyroid disease
Diabetes mellitus type 1
Celiac disease
Common variable immunodeficiency
Hypothyroidism
Isolated sulfite oxidase deficiency
Sarcoidosis
Autoinflammation with pulmonary and cutaneous vasculitis
Midline facial cleft
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Autoimmune disease | 6 | 6 | 202 |
| Autoimmune thyroid disease | 6 | 6 | 144 |
| Diabetes mellitus type 1 | 6 | 6 | 479 |
| Celiac disease | 5 | 5 | 193 |
| Common variable immunodeficiency | 5 | 5 | 79 |
| Hypothyroidism | 5 | 5 | 377 |
| Isolated sulfite oxidase deficiency | 3 | 3 | 1 |
| Sarcoidosis | 2 | 2 | 163 |
| Autoinflammation with pulmonary and cutaneous vasculitis | 1 | 1 | 1 |
| Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias | 1 | 1 | 1 |
| Midline facial cleft | 1 | 1 | 1 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| CTLA4 | 7 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 3 more |
| HLA-DQB1 | 7 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 3 more |
| ADCY7 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| C1ORF141 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| ICOS | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| IL23R | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| IL2RA | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| KEAP1 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| NKX2-3 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| PHTF1 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| PTPN2 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| RSBN1 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| SH2B3 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1 and 2 more |
| SLC25A28 | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| SUOX | 6 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 2 more |
| ADGRL2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| ANKRD55 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| ATG16L1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| ATXN2 | 5 / 12 | Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| ATXN2L | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| BACH2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1 and 1 more |
| BTNL2 | 5 / 12 | Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| CARD9 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| CRB1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| CYTL1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| DAG1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| DCTD | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| ERAP2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| FNBP1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| FUT2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| GPR35 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| GSDMB | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| HLA-B | 5 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| HLA-DQA1 | 5 / 12 | Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| HLA-DRA | 5 / 12 | Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| HLA-DRB1 | 5 / 12 | Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| IGF2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| IL10 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| IL18RAP | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| INS-IGF2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| IRF1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| IRF4 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1 and 1 more |
| JAK2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| LRRK2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| LURAP1L | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| NKD1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| NPIPB6 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| PDE4A | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| PPARG | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| PSMB9 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1 and 1 more |
| SBK1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| SLC9A4 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| SMAD3 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| STAT4 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Diabetes mellitus type 1 and 1 more |
| STMN3 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| TENM3 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| TNFSF15 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| TSBP1 | 5 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| TTC33 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| TYK2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| UBASH3A | 5 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism and 1 more |
| ZMIZ1 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| ZPBP2 | 5 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency and 1 more |
| BANF2 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| C1QTNF6 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| CAMK4 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| CBLB | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| CCDC88B | 4 / 12 | Autoimmune disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| CD226 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| ELMO1 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Hypothyroidism |
| ERBB3 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| FAM76B | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| HLA-DMB | 4 / 12 | Autoimmune disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| HLA-DOA | 4 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism |
| HLA-DOB | 4 / 12 | Celiac disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| HLA-DPA1 | 4 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism |
| HLA-DPB1 | 4 / 12 | Celiac disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| HLA-DQB3 | 4 / 12 | Autoimmune disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| IL21 | 4 / 12 | Celiac disease, Common variable immunodeficiency, Diabetes mellitus type 1, Hypothyroidism |
| LPP | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Hypothyroidism |
| NCR3 | 4 / 12 | Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| NOTCH4 | 4 / 12 | Celiac disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| PLEKHA1 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| PTPN22 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| RASGRP1 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| RHOH | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| RNASET2 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| TAGAP | 4 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism |
| TAP1 | 4 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1, Hypothyroidism |
| TAP2 | 4 / 12 | Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| TNFRSF14 | 4 / 12 | Autoimmune disease, Autoimmune thyroid disease, Celiac disease, Hypothyroidism |
| ACAP1 | 3 / 12 | Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| ACE | 3 / 12 | Celiac disease, Diabetes mellitus type 1, Sarcoidosis |
| AFF3 | 3 / 12 | Autoimmune disease, Celiac disease, Diabetes mellitus type 1 |
| ARID5B | 3 / 12 | Autoimmune disease, Autoimmune thyroid disease, Hypothyroidism |
| BCL2L15 | 3 / 12 | Autoimmune thyroid disease, Diabetes mellitus type 1, Hypothyroidism |
| BRD2 | 3 / 12 | Celiac disease, Diabetes mellitus type 1, Sarcoidosis |
| C12ORF42 | 3 / 12 | Autoimmune disease, Autoimmune thyroid disease, Hypothyroidism |
| C2 | 3 / 12 | Diabetes mellitus type 1, Hypothyroidism, Sarcoidosis |
| C6ORF15 | 3 / 12 | Celiac disease, Diabetes mellitus type 1, Sarcoidosis |
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 ⇵ |
|---|---|---|---|---|---|
| Inflammatory bowel disease | KEGG | 44 / 66 | 7.7× | 2.06e-31 | 6.76e-28 ✓ sig. |
| Type I diabetes mellitus | KEGG | 34 / 44 | 8.9× | 4.67e-28 | 1.07e-24 ✓ sig. |
| Intestinal immune network for IgA production | KEGG | 34 / 50 | 7.9× | 5.56e-25 | 7.98e-22 ✓ sig. |
| Th17 cell differentiation | KEGG | 49 / 109 | 5.2× | 5.10e-24 | 6.35e-21 ✓ sig. |
| Allograft rejection | KEGG | 29 / 39 | 8.6× | 2.84e-23 | 3.29e-20 ✓ sig. |
| Autoimmune thyroid disease | KEGG | 33 / 54 | 7.1× | 4.57e-22 | 4.41e-19 ✓ sig. |
| Graft-versus-host disease | KEGG | 29 / 45 | 7.4× | 1.73e-20 | 1.31e-17 ✓ sig. |
| Rheumatoid arthritis | KEGG | 40 / 95 | 4.9× | 1.41e-18 | 7.87e-16 ✓ sig. |
| Th1 and Th2 cell differentiation | KEGG | 39 / 93 | 4.8× | 4.53e-18 | 2.34e-15 ✓ sig. |
| Cytokine-cytokine receptor interaction | KEGG | 75 / 298 | 2.9× | 6.73e-18 | 3.31e-15 ✓ sig. |
| Viral protein interaction with cytokine and cytokine receptor | KEGG | 37 / 100 | 4.3× | 4.18e-15 | 1.22e-12 ✓ sig. |
| Leishmaniasis | KEGG | 31 / 78 | 4.6× | 7.26e-14 | 1.66e-11 ✓ sig. |
| Hematopoietic cell lineage | KEGG | 35 / 100 | 4.0× | 1.61e-13 | 3.41e-11 ✓ sig. |
| Herpes simplex virus 1 infection | KEGG | 49 / 182 | 3.1× | 2.66e-13 | 5.35e-11 ✓ sig. |
| Interleukin-10 signaling | Reactome | 23 / 47 | 5.7× | 6.03e-13 | 1.13e-10 ✓ 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 ⇵ |
|---|---|---|---|---|---|
| immune response | GO:0006955 | 115 / 543 | 3.8× | 7.34e-37 | 6.98e-33 ✓ sig. |
| immune system process | GO:0002376 | 128 / 943 | 2.4× | 1.56e-21 | 3.27e-18 ✓ sig. |
| inflammatory response | GO:0006954 | 83 / 467 | 3.2× | 1.91e-21 | 3.93e-18 ✓ sig. |
| peptide antigen assembly with MHC class II protein complex | GO:0002503 | 14 / 16 | 15.7× | 2.68e-16 | 2.45e-13 ✓ sig. |
| positive regulation of transcription by RNA polymerase II | GO:0045944 | 136 / 1,208 | 2.0× | 9.68e-16 | 7.99e-13 ✓ sig. |
| positive regulation of type II interferon production | GO:0032729 | 27 / 77 | 6.3× | 2.84e-15 | 2.17e-12 ✓ sig. |
| positive regulation of T cell activation | GO:0050870 | 21 / 45 | 8.4× | 3.83e-15 | 2.84e-12 ✓ sig. |
| antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | GO:0002504 | 13 / 15 | 15.6× | 4.27e-15 | 3.14e-12 ✓ sig. |
| positive regulation of T cell proliferation | GO:0042102 | 25 / 67 | 6.7× | 5.66e-15 | 4.07e-12 ✓ sig. |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | GO:0051897 | 44 / 217 | 3.6× | 5.19e-14 | 3.18e-11 ✓ sig. |
| positive regulation of tumor necrosis factor production | GO:0032760 | 30 / 113 | 4.8× | 3.72e-13 | 1.93e-10 ✓ sig. |
| T cell receptor signaling pathway | GO:0050852 | 31 / 121 | 4.6× | 4.29e-13 | 2.19e-10 ✓ sig. |
| cytokine-mediated signaling pathway | GO:0019221 | 34 / 145 | 4.2× | 5.08e-13 | 2.55e-10 ✓ sig. |
| antigen processing and presentation | GO:0019882 | 19 / 48 | 7.1× | 3.02e-12 | 1.32e-9 ✓ sig. |
| positive regulation of MAPK cascade | GO:0043410 | 42 / 224 | 3.4× | 3.03e-12 | 1.32e-9 ✓ sig. |