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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
Hyperinflammatory lymphoproliferative immunodeficiency Immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
NCKAP1L(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Cholelithiasis hyperphenylalaninemia due to DNAJC12 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DNAJC12(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 226 →
Autoimmune enteropathy and endocrinopathy Immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Colorectal adenoma lethal occipital encephalocele-skeletal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CYP26B1(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
macrothrombocytopenia, isolated, 1, autosomal dominant Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
TUBB1(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 33 →
Cholelithiasis mednik syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AP1S1(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency Mucosa-associated lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
BCL10(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Cholelithiasis Peliosis hepatis
1 gene
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1 of 1 corroborated by 2+ sources
F2RL3(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 226 →
Immunodeficiency platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
1 gene
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1 of 1 corroborated by 2+ sources
ARPC1B(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
ARPC1B(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
platelet-type bleeding disorder 15 Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
ACTN1(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 33 →
platelet-type bleeding disorder 20 Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
SLFN14(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
platelet-type von Willebrand disease Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
GP1BA(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Pelvic organ prolapse Prader-willi-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CPE(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Cholelithiasis primary hyperoxaluria type 3
1 gene
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1 of 1 corroborated by 2+ sources
HOGA1(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
1 gene
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1 of 1 corroborated by 2+ sources
MCM4(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency immunodeficiency 106, susceptibility to viral infections
1 gene
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1 of 1 corroborated by 2+ sources
IFNAR1(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency immunodeficiency 109 with lymphoproliferation
1 gene
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1 of 1 corroborated by 2+ sources
TNFRSF9(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency immunodeficiency 115 with autoinflammation
1 gene
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1 of 1 corroborated by 2+ sources
RNF31(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency immunodeficiency 121 with autoinflammation
1 gene
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1 of 1 corroborated by 2+ sources
PSMB10(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency immunodeficiency 126, susceptibility to
1 gene
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1 of 1 corroborated by 2+ sources
PTCRA(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency immunodeficiency 18
1 gene
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1 of 1 corroborated by 2+ sources
CD3E(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →
Immunodeficiency immunodeficiency 19
1 gene
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1 of 1 corroborated by 2+ sources
CD3D(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →
Immunodeficiency immunodeficiency 23
1 gene
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1 of 1 corroborated by 2+ sources
PGM3(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →

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