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What do these columns mean?
Shared genes
Curated genes linked to both diseases (disease_gdp). The line below it shows how many of those are "corroborated" -- backed by 2+ independent database sources combined across both diseases, not resting on a single source's say-so.
Similarity score
Jaccard-based: shared genes ÷ the union of both diseases' entire gene sets, with a small boost from users who bookmarked both diseases. Treats both diseases symmetrically.
Overlap coefficient
Shared genes ÷ the smaller disease's own total gene count. Complements the similarity score above for asymmetric pairs -- e.g. a rare disease almost entirely "contained" in a common disease's much larger gene set scores low on Jaccard but high here.
P-value / FDR q-value
Is this gene overlap more than chance? An upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pair (the q-value is the one that accounts for testing thousands of pairs at once -- prefer it over the raw p-value).
Shared cluster
Links to a multi-disease cluster (see Disease Clusters) if both diseases of this pair were independently grouped together by that separate analysis.
ⓘ Shows only pairs whose gene overlap is too large to be down to chance (FDR q-value below 0.05). These are the rows marked ✓ sig. in the table. ⓘ Shows only pairs where both diseases also belong to the same group on the Disease Clusters page. Two separate analyses agree they're related, so the link is stronger. These are the rows with a link in the Shared cluster column.
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Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Rothmund-thomson syndrome Ruptured abdominal aortic aneurysm
2 genes
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ELN(1), EFEMP2(1)
0.105 0.250 1.55e-5 7.48e-5 ✓ sig. —
Episodic ataxia Lennox-gastaut syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CACNA1A(6), SCN2A(4)
0.105 0.250 1.55e-5 7.48e-5 ✓ sig. —
Eye neoplasms Prader-willi syndrome
2 genes
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2 of 2 corroborated by 2+ sources
HERC2(5), OCA2(3)
0.105 0.250 1.55e-5 7.48e-5 ✓ sig. Cluster 298 →
Congenital nystagmus Eye neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
OCA2(2), TYR(2)
0.105 0.250 1.55e-5 7.48e-5 ✓ sig. —
Esophageal adenocarcinoma Hyperlipidemia
5 genes
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1 of 5 corroborated by 2+ sources
ALDH1A2(1), APOB(3), BCL3(1), SLC22A2(1), SLC22A3(1)
0.029 0.143 1.56e-5 7.50e-5 ✓ sig. —
Ambiguous genitalia Fraser syndrome
2 genes
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2 of 2 corroborated by 2+ sources
WT1(6), FREM2(6)
0.083 0.400 1.60e-5 7.68e-5 ✓ sig. —
Congenital diaphragmatic hernia Diaphragmatic malformations
2 genes
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2 of 2 corroborated by 2+ sources
ZFPM2(5), PLS3(2)
0.083 0.400 1.60e-5 7.68e-5 ✓ sig. —
Hepatic encephalopathy Nausea
2 genes
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2 of 2 corroborated by 2+ sources
TNF(2), OPRM1(2)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. Cluster 57 →
Bonnevie-ullrich syndrome Hyperemia
2 genes
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2 of 2 corroborated by 2+ sources
CAT(2), NOS2(2)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. —
Angle closure glaucoma Hepatic veno occlusive disease
2 genes
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MTHFR(1), GSTM1(1)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. —
Testicular disease Thyroid agenesis
2 genes
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2 of 2 corroborated by 2+ sources
PAX8(2), IGSF1(2)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. Cluster 88 →
Bicuspid aortic valve Hereditary bundle branch system defect
2 genes
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1 of 2 corroborated by 2+ sources
DSP(1), NKX2-5(2)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. —
Bronchial hyperreactivity Extravasation of diagnostic and therapeutic materials
2 genes
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2 of 2 corroborated by 2+ sources
TAC1(2), IL1RN(2)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. —
Arthritis Autoimmune polyendocrine syndrome
2 genes
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0.069 0.500 1.64e-5 7.87e-5 ✓ sig. Cluster 1 →
Arthritis Esophageal achalasia
2 genes
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2 of 2 corroborated by 2+ sources
0.069 0.500 1.64e-5 7.87e-5 ✓ sig. Cluster 1 →
Arthritis Oropharyngeal neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
0.069 0.500 1.64e-5 7.87e-5 ✓ sig. Cluster 1 →
Beta thalassemia Diamond-blackfan anemia
3 genes
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2 of 3 corroborated by 2+ sources
EPO(4), GATA1(5), GH1(1)
0.054 0.143 1.65e-5 7.90e-5 ✓ sig. —
Arterial occlusive disease Hematuria
2 genes
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2 of 2 corroborated by 2+ sources
PLAU(2), CYP1A1(2)
0.105 0.222 1.67e-5 7.98e-5 ✓ sig. —
Optic neuropathy Stomatitis
2 genes
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1 of 2 corroborated by 2+ sources
CSF3(2), IFNA2(1)
0.105 0.222 1.67e-5 7.98e-5 ✓ sig. Cluster 32 →
Anhydramnios Fabry disease
2 genes
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ACE(1), AGT(1)
0.105 0.222 1.67e-5 7.98e-5 ✓ sig. —
Esotropia Tongue neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
SOD2(2), PTGS2(2)
0.105 0.200 1.70e-5 8.15e-5 ✓ sig. —
Congenital skin anomaly Ectrodactyly
2 genes
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1 of 2 corroborated by 2+ sources
TP63(6), FGFR2(1)
0.105 0.200 1.70e-5 8.15e-5 ✓ sig. —
Ectrodactyly Skin abnormalities
2 genes
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2 of 2 corroborated by 2+ sources
TP63(6), FGFR2(2)
0.105 0.200 1.70e-5 8.15e-5 ✓ sig. —
Berylliosis Vascular system injury
2 genes
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ACE(1), TNF(1)
0.105 0.200 1.70e-5 8.15e-5 ✓ sig. —
Berylliosis Intervertebral disc disease
2 genes
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TNF(1), TGFB1(1)
0.105 0.200 1.70e-5 8.15e-5 ✓ sig. Cluster 180 →

Showing 25 of 20813 pairs, sorted by significance (ascending). Click a column header to sort.