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.
← Back to all clusters
Cluster 1
110
Diseases
760
Unique genes
0.172
Avg. similarity score
Bouillaud’s disease
Most-connected disease (49 links)
Disease
Searched: optic atrophy 10 with or without ataxia, intellectual disability, and seizures
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.
optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Bouillaud’s disease
Autoimmune polyendocrine syndrome
Oropharyngeal neoplasms
Benign mucous membrane pemphigoid with ocular involvement
Acute disseminated encephalomyelitis
Pemphigus vulgaris
Skeletal system disease
Wheat allergic reaction
Uveomeningoencephalitic syndrome
Pemphigus
Autoimmune pancreatitis
Central nervous system non-hodgkin lymphoma
Esophageal achalasia
Henoch schoenlein purpura
Autoimmune pulmonary alveolar proteinosis
Cervical intraepithelial neoplasia
Heerfordt syndrome
Tongue cancer
Chorea
Antiphospholipid syndrome
Cold paroxysmal hemoglobinuria
Gastritis
Interstitial cystitis
Narcolepsy
Thromboangiitis obliterans
Arthritis
Benign hereditary chorea
Benign mucous membrane pemphigoid
Bullous pemphigoid
Cutaneous lupus erythematosus
Latent autoimmune diabetes in adults
Autoimmune musculoskeletal system disorder
Bronchitis
Diabetic nephropathy type 1
Follicular lymphoma
Gastroparesis
Hemoglobinuria paroxysmal
Lymphedema
Membranous glomerulonephritis
Paroxysmal nocturnal hemoglobinuria
Thyroiditis
Vogt-koyanagi-harada disease
Anti-glomerular basement membrane disease
Aortic arch syndrome
Apolipoprotein b hypobetalipoproteinemia
Cartilage disease
Churg-strauss syndrome
Collagenous colitis
Congenital pulmonary artery atresia
Cryoglobulinemia
Lupus nephritis
Lymphoma
Myasthenia gravis
Nasopharyngeal neoplasms
Obstructive asthma
Ocular sarcoidosis
Optic neuritis
Pulmonary alveolar proteinosis
Respiratory system neoplasm
Rosacea
Tonsil cancer
Duodenitis
Giant cell arteritis
Hepatitis c induced liver cirrhosis
Oral cavity carcinoma
Sinusitis
Thiopurine immunosuppressant-induced pancreatitis
Anti-neutrophil antibody associated vasculitis
Diffuse large b-cell lymphoma
Head and neck cancer
Immune system disease
Osteomyelitis
Primary immunodeficiency with defective natural killer cell cytotoxicity
Thyrotoxic periodic paralysis
Waldenstrom macroglobulinemia
atypical hemolytic-uremic syndrome with C3 anomaly
Blepharitis
Bronchial disease
Choreoacanthocytosis
Disabling pansclerotic morphea of childhood
Dysbiosis
Intellectual developmental disorder seizures movement
Parapsoriasis
immunodeficiency 60
Autoimmune gastritis
Autonomic nervous system disease
Birbeck granule deficiency
Cataplexy and narcolepsy
Congenital isolated acth deficiency
Hypoparathyroidism
IMPDH1-related retinopathy
KIZ-related retinopathy
Keratosis palmoplantaris papulosa
Neurodevelopmental disorder with dilated cardiomyopathy
Parenchymal hematoma
Peeling skin syndrome with leukonychia and acral punctate keratoses
Pulmonary surfactant metabolism dysfunction
Uric acid urolithiasis
Vici syndrome
X-linked epilepsy with or without intellectual disability and dysmorphic features
autosomal recessive osteopetrosis 3
congenital disorder of glycosylation type II
distal myopathy with vocal cord weakness
hsd10 mitochondrial disease
immunodeficiency 106, susceptibility to viral infections
immunodeficiency 126, susceptibility to
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
scalp-ear-nipple syndrome
Member diseases (most connected first ‐ the cluster's core)
Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| HLA-DQA1 | 45 / 110 | Anti-neutrophil antibody associated vasculitis, Antiphospholipid syndrome, Arthritis, Autoimmune musculoskeletal system disorder and 41 more |
| HLA-DQB1 | 45 / 110 | Acute disseminated encephalomyelitis, Antiphospholipid syndrome, Apolipoprotein b hypobetalipoproteinemia, Arthritis and 41 more |
| HLA-DRB1 | 45 / 110 | Acute disseminated encephalomyelitis, Anti-glomerular basement membrane disease, Antiphospholipid syndrome, Aortic arch syndrome and 41 more |
| HLA-B | 10 / 110 | Aortic arch syndrome, Cervical intraepithelial neoplasia, Diffuse large b-cell lymphoma, Giant cell arteritis and 6 more |
| C3 | 8 / 110 | atypical hemolytic-uremic syndrome with C3 anomaly, Cold paroxysmal hemoglobinuria, Hemoglobinuria paroxysmal, Henoch schoenlein purpura and 4 more |
| HLA-DRA | 7 / 110 | Antiphospholipid syndrome, Bullous pemphigoid, Henoch schoenlein purpura, Hepatitis c induced liver cirrhosis and 3 more |
| IRF4 | 7 / 110 | Central nervous system non-hodgkin lymphoma, Diffuse large b-cell lymphoma, Lymphoma, Membranous glomerulonephritis and 3 more |
| PTPN22 | 7 / 110 | Diabetic nephropathy type 1, Giant cell arteritis, Immune system disease, Latent autoimmune diabetes in adults and 3 more |
| HLA-DQB3 | 6 / 110 | Anti-neutrophil antibody associated vasculitis, Henoch schoenlein purpura, Interstitial cystitis, Narcolepsy and 2 more |
| HLA-DRB5 | 6 / 110 | Acute disseminated encephalomyelitis, Bullous pemphigoid, Central nervous system non-hodgkin lymphoma, Henoch schoenlein purpura and 2 more |
| C6ORF15 | 5 / 110 | Immune system disease, Membranous glomerulonephritis, Myasthenia gravis, Nasopharyngeal neoplasms and 1 more |
| CTLA4 | 5 / 110 | Anti-glomerular basement membrane disease, Immune system disease, Latent autoimmune diabetes in adults, Lupus nephritis and 1 more |
| FAS | 5 / 110 | Diffuse large b-cell lymphoma, Lupus nephritis, Myasthenia gravis, Uveomeningoencephalitic syndrome and 1 more |
| FCGR3A | 5 / 110 | Anti-glomerular basement membrane disease, Arthritis, Giant cell arteritis, Lupus nephritis and 1 more |
| HLA-DPB1 | 5 / 110 | Anti-glomerular basement membrane disease, Anti-neutrophil antibody associated vasculitis, Gastroparesis, Myasthenia gravis and 1 more |
| CLPTM1L | 4 / 110 | Cervical intraepithelial neoplasia, Head and neck cancer, Nasopharyngeal neoplasms, Oral cavity carcinoma |
| EXOC2 | 4 / 110 | Central nervous system non-hodgkin lymphoma, Diffuse large b-cell lymphoma, Lymphoma, Waldenstrom macroglobulinemia |
| STAT4 | 4 / 110 | Autoimmune musculoskeletal system disorder, Disabling pansclerotic morphea of childhood, Immune system disease, Uveomeningoencephalitic syndrome |
| TERT | 4 / 110 | Head and neck cancer, Nasopharyngeal neoplasms, Osteomyelitis, Tongue cancer |
| ATXN2 | 3 / 110 | Immune system disease, Latent autoimmune diabetes in adults, Myasthenia gravis |
| BACH2 | 3 / 110 | Central nervous system non-hodgkin lymphoma, immunodeficiency 60, Latent autoimmune diabetes in adults |
| BCL2 | 3 / 110 | Diffuse large b-cell lymphoma, Follicular lymphoma, Lymphoma |
| C5 | 3 / 110 | Cold paroxysmal hemoglobinuria, Hemoglobinuria paroxysmal, Paroxysmal nocturnal hemoglobinuria |
| CCL2 | 3 / 110 | Giant cell arteritis, Henoch schoenlein purpura, Lupus nephritis |
| CDKN2A | 3 / 110 | Diffuse large b-cell lymphoma, Lymphoma, Nasopharyngeal neoplasms |
| CRP | 3 / 110 | Antiphospholipid syndrome, Arthritis, Lupus nephritis |
| HLA-A | 3 / 110 | Aortic arch syndrome, Parapsoriasis, Thromboangiitis obliterans |
| HLA-DOB | 3 / 110 | Bullous pemphigoid, Interstitial cystitis, Lymphoma |
| HLA-DPA1 | 3 / 110 | Anti-neutrophil antibody associated vasculitis, Interstitial cystitis, Ocular sarcoidosis |
| HLA-DQB2 | 3 / 110 | Bullous pemphigoid, Interstitial cystitis, Lymphoma |
| IL2 | 3 / 110 | Aortic arch syndrome, Bullous pemphigoid, Pemphigus |
| ITGAM | 3 / 110 | Autoimmune musculoskeletal system disorder, Cutaneous lupus erythematosus, Lupus nephritis |
| MC1R | 3 / 110 | Blepharitis, Respiratory system neoplasm, Rosacea |
| MMP2 | 3 / 110 | Giant cell arteritis, Lupus nephritis, Nasopharyngeal neoplasms |
| MOG | 3 / 110 | Narcolepsy, Nasopharyngeal neoplasms, Optic neuritis |
| MYD88 | 3 / 110 | Diffuse large b-cell lymphoma, Lymphoma, Waldenstrom macroglobulinemia |
| NOTCH4 | 3 / 110 | Cryoglobulinemia, Interstitial cystitis, Lupus nephritis |
| PDE2A | 3 / 110 | Chorea, Intellectual developmental disorder seizures movement, Oral cavity carcinoma |
| PIGA | 3 / 110 | Cold paroxysmal hemoglobinuria, Hemoglobinuria paroxysmal, Paroxysmal nocturnal hemoglobinuria |
| PIGT | 3 / 110 | Cold paroxysmal hemoglobinuria, Hemoglobinuria paroxysmal, Paroxysmal nocturnal hemoglobinuria |
| TLR4 | 3 / 110 | Arthritis, Dysbiosis, Giant cell arteritis |
| VPS13A | 3 / 110 | Benign hereditary chorea, Chorea, Choreoacanthocytosis |
| ABCA3 | 2 / 110 | Pulmonary alveolar proteinosis, Pulmonary surfactant metabolism dysfunction |
| ABCB1 | 2 / 110 | Cryoglobulinemia, Diffuse large b-cell lymphoma |
| ABCG8 | 2 / 110 | Duodenitis, Gastritis |
| ADCY5 | 2 / 110 | Benign hereditary chorea, Chorea |
| ADH1B | 2 / 110 | Oral cavity carcinoma, Respiratory system neoplasm |
| AIRE | 2 / 110 | Autoimmune polyendocrine syndrome, Hypoparathyroidism |
| ARPC1B | 2 / 110 | Gastritis, platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| ATP4B | 2 / 110 | Autoimmune gastritis, Gastritis |
| ATP6AP1 | 2 / 110 | congenital disorder of glycosylation type II, Lymphoma |
| B2M | 2 / 110 | Arthritis, Diffuse large b-cell lymphoma |
| BTNL2 | 2 / 110 | Hepatitis c induced liver cirrhosis, Membranous glomerulonephritis |
| CA2 | 2 / 110 | Autoimmune pancreatitis, autosomal recessive osteopetrosis 3 |
| CACNA2D2 | 2 / 110 | Benign hereditary chorea, Chorea |
| CAMK2D | 2 / 110 | Bronchitis, Neurodevelopmental disorder with dilated cardiomyopathy |
| CASP14 | 2 / 110 | Bronchial disease, Bronchitis |
| CAST | 2 / 110 | Peeling skin syndrome with leukonychia and acral punctate keratoses, Pemphigus |
| CAT | 2 / 110 | Diffuse large b-cell lymphoma, Optic neuritis |
| CD207 | 2 / 110 | Birbeck granule deficiency, Narcolepsy |
| CD40 | 2 / 110 | Arthritis, Pemphigus |
| CD40LG | 2 / 110 | Antiphospholipid syndrome, Lupus nephritis |
| CD86 | 2 / 110 | Diffuse large b-cell lymphoma, Henoch schoenlein purpura |
| CDH18 | 2 / 110 | Antiphospholipid syndrome, Gastritis |
| CDKN2B | 2 / 110 | Lymphoma, Nasopharyngeal neoplasms |
| CEP43 | 2 / 110 | Immune system disease, Myasthenia gravis |
| CFB | 2 / 110 | Membranous glomerulonephritis, Myasthenia gravis |
| CHRNA1 | 2 / 110 | Immune system disease, Myasthenia gravis |
| COL11A2 | 2 / 110 | Cartilage disease, Interstitial cystitis |
| COL14A1 | 2 / 110 | Gastritis, Keratosis palmoplantaris papulosa |
| COL2A1 | 2 / 110 | Arthritis, Cartilage disease |
| CSF2 | 2 / 110 | Lymphoma, Pulmonary alveolar proteinosis |
| CSF2RA | 2 / 110 | Pulmonary alveolar proteinosis, Pulmonary surfactant metabolism dysfunction |
| CSF2RB | 2 / 110 | Pulmonary alveolar proteinosis, Pulmonary surfactant metabolism dysfunction |
| CXCL8 | 2 / 110 | Bullous pemphigoid, Gastritis |
| CYP2A6 | 2 / 110 | Bronchitis, Nasopharyngeal neoplasms |
| DDX6 | 2 / 110 | Immune system disease, Lymphoma |
| EBF1 | 2 / 110 | Blepharitis, Lymphoma |
| EGFR | 2 / 110 | Nasopharyngeal neoplasms, Ocular sarcoidosis |
| ELMO1 | 2 / 110 | Autonomic nervous system disease, Immune system disease |
| EPG5 | 2 / 110 | Bronchial disease, Vici syndrome |
| EXOC6 | 2 / 110 | Diffuse large b-cell lymphoma, Follicular lymphoma |
| EZH2 | 2 / 110 | Diffuse large b-cell lymphoma, Lymphoma |
| FAM76B | 2 / 110 | Immune system disease, Myasthenia gravis |
| FCGR2A | 2 / 110 | Giant cell arteritis, Lupus nephritis |
| FKBPL | 2 / 110 | Interstitial cystitis, Membranous glomerulonephritis |
| FRMD4A | 2 / 110 | Antiphospholipid syndrome, Ocular sarcoidosis |
| FTO | 2 / 110 | Oral cavity carcinoma, Osteomyelitis |
| GABRA3 | 2 / 110 | Thyrotoxic periodic paralysis, X-linked epilepsy with or without intellectual disability and dysmorphic features |
| GATA2 | 2 / 110 | Cartilage disease, Lymphedema |
| GRB7 | 2 / 110 | Immune system disease, Myasthenia gravis |
| GSTM1 | 2 / 110 | Gastritis, Optic neuritis |
| HLA-C | 2 / 110 | Interstitial cystitis, Sinusitis |
| HLA-DOA | 2 / 110 | Interstitial cystitis, Ocular sarcoidosis |
| HOMEZ | 2 / 110 | Bronchial disease, Bronchitis |
| HSD17B10 | 2 / 110 | Chorea, hsd10 mitochondrial disease |
| IFNA2 | 2 / 110 | Lymphoma, Uveomeningoencephalitic syndrome |
| IFNAR1 | 2 / 110 | immunodeficiency 106, susceptibility to viral infections, Narcolepsy |
| IFNG | 2 / 110 | Giant cell arteritis, Lupus nephritis |
| IKZF1 | 2 / 110 | Lymphoma, Rosacea |
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 ⇵ |
|---|---|---|---|---|---|
| Allograft rejection | KEGG | 26 / 39 | 10.5× | 1.67e-22 | 1.88e-19 ✓ sig. |
| Leishmaniasis | KEGG | 35 / 78 | 7.1× | 7.01e-22 | 6.96e-19 ✓ sig. |
| Autoimmune thyroid disease | KEGG | 28 / 54 | 8.2× | 6.57e-20 | 4.74e-17 ✓ sig. |
| Type I diabetes mellitus | KEGG | 25 / 44 | 9.0× | 3.29e-19 | 2.16e-16 ✓ sig. |
| Inflammatory bowel disease | KEGG | 29 / 66 | 6.9× | 4.90e-18 | 2.75e-15 ✓ sig. |
| Graft-versus-host disease | KEGG | 24 / 45 | 8.4× | 1.27e-17 | 6.51e-15 ✓ sig. |
| Tuberculosis | KEGG | 47 / 181 | 4.1× | 2.54e-17 | 1.25e-14 ✓ sig. |
| Rheumatoid arthritis | KEGG | 33 / 95 | 5.5× | 1.25e-16 | 5.38e-14 ✓ sig. |
| Herpes simplex virus 1 infection | KEGG | 46 / 182 | 4.0× | 1.75e-16 | 7.38e-14 ✓ sig. |
| Toxoplasmosis | KEGG | 35 / 112 | 4.9× | 6.44e-16 | 2.50e-13 ✓ sig. |
| Asthma | KEGG | 18 / 32 | 8.9× | 4.43e-14 | 1.19e-11 ✓ sig. |
| Th1 and Th2 cell differentiation | KEGG | 28 / 93 | 4.8× | 1.50e-12 | 3.14e-10 ✓ sig. |
| Epstein-Barr virus infection | KEGG | 43 / 204 | 3.3× | 1.54e-12 | 3.22e-10 ✓ sig. |
| Influenza A | KEGG | 39 / 173 | 3.6× | 1.88e-12 | 3.86e-10 ✓ sig. |
| Human T-cell leukemia virus 1 infection | KEGG | 45 / 224 | 3.2× | 2.73e-12 | 5.45e-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 | 75 / 543 | 3.4× | 8.04e-21 | 1.41e-17 ✓ sig. |
| peptide antigen assembly with MHC class II protein complex | GO:0002503 | 14 / 16 | 21.5× | 3.36e-18 | 4.02e-15 ✓ sig. |
| antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | GO:0002504 | 13 / 15 | 21.3× | 7.34e-17 | 7.07e-14 ✓ sig. |
| positive regulation of T cell activation | GO:0050870 | 20 / 45 | 10.9× | 1.46e-16 | 1.35e-13 ✓ sig. |
| cellular response to lipopolysaccharide | GO:0071222 | 34 / 187 | 4.5× | 1.67e-13 | 8.86e-11 ✓ sig. |
| antigen processing and presentation | GO:0019882 | 18 / 48 | 9.2× | 1.76e-13 | 9.33e-11 ✓ sig. |
| cell surface receptor signaling pathway via JAK-STAT | GO:0007259 | 20 / 67 | 7.3× | 1.14e-12 | 5.24e-10 ✓ sig. |
| positive regulation of immune response | GO:0050778 | 16 / 40 | 9.8× | 1.21e-12 | 5.50e-10 ✓ sig. |
| antigen processing and presentation of exogenous peptide antigen via MHC class II | GO:0019886 | 14 / 31 | 11.1× | 4.20e-12 | 1.71e-9 ✓ sig. |
| positive regulation of cell population proliferation | GO:0008284 | 58 / 532 | 2.7× | 7.84e-12 | 2.96e-9 ✓ sig. |
| immune system process | GO:0002376 | 84 / 943 | 2.2× | 8.91e-12 | 3.32e-9 ✓ sig. |
| inflammatory response | GO:0006954 | 53 / 467 | 2.8× | 1.42e-11 | 5.07e-9 ✓ sig. |
| regulation of cell population proliferation | GO:0042127 | 32 / 201 | 3.9× | 3.44e-11 | 1.12e-8 ✓ sig. |
| positive regulation of interleukin-12 production | GO:0032735 | 15 / 43 | 8.6× | 6.29e-11 | 1.93e-8 ✓ sig. |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | GO:0043491 | 21 / 92 | 5.6× | 8.89e-11 | 2.62e-8 ✓ sig. |