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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
Bicuspid aortic valve Congenital radioulnar synostosis
1 gene
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1 of 1 corroborated by 2+ sources
SMAD6(4)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Corpus callosum agenesis Partington syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PAK3(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Hereditary folate malabsorption Pancytopenia
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(4)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. Cluster 411 →
Hyperferritinemia Neurodegeneration with brain iron accumulation
1 gene
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1 of 1 corroborated by 2+ sources
FTL(4)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Hyperemia Partial adenosine deaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ADA(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Nephrosclerosis Periapical periodontitis
1 gene
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1 of 1 corroborated by 2+ sources
FGF2(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Perrault syndrome Progressive arterial occlusive disease with hypertension
1 gene
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1 of 1 corroborated by 2+ sources
DAP3(3)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. Cluster 336 →
Intestinal disease Spectrum and myeloid neoplasm risk
1 gene
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1 of 1 corroborated by 2+ sources
SAMD9(3)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Metabolic bone disorder Syndactyly of the toes
1 gene
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DHCR7(1)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Bicuspid aortic valve Diffuse palmoplantar keratoderma
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Donnai-barrow syndrome Metabolic bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
LRP2(5)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Lamellar ichthyosis Neutral lipid storage disease with ichthyosis
1 gene
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1 of 1 corroborated by 2+ sources
ABHD5(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Congenital exomphalos Vascular brain injury
1 gene
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1 of 1 corroborated by 2+ sources
PCSK5(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. Cluster 94 →
Currarino syndrome Vascular brain injury
1 gene
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1 of 1 corroborated by 2+ sources
PCSK5(3)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. Cluster 94 →
Sacral defect Vascular brain injury
1 gene
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1 of 1 corroborated by 2+ sources
PCSK5(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. Cluster 94 →
Nephrosclerosis Whim syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CXCR4(8)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Partington syndrome Wilson-turner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LAS1L(4)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Neurodegeneration with brain iron accumulation Woodhouse sakati syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DCAF17(6)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Fanconi-bickel syndrome Permanent neonatal diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A2(5)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. Cluster 36 →
Growth hormone insensitivity syndrome with immune dysregulation Pancytopenia
1 gene
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1 of 1 corroborated by 2+ sources
ERCC6L2(4)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Cleft palate and bilateral cleft lip Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
PIGL(2)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Congenital bilateral absence of vas deferens Spermatogenic failure, y-linked
1 gene
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1 of 1 corroborated by 2+ sources
CFTR(5)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Anterior segment mesenchymal dysgenesis Congenital cataract microcornea with corneal opacity
1 gene
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1 of 1 corroborated by 2+ sources
PXDN(3)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
Congenital leukocyte adherence deficiency Coronary restenosis
1 gene
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ITGB2(1)
0.063 0.500 1.82e-3 2.68e-3 ✓ sig. —
cone-rod dystrophy 2 Stargardt disease
1 gene
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1 of 1 corroborated by 2+ sources
CRX(2)
0.034 1.000 1.82e-3 2.68e-3 ✓ sig. Cluster 7 →

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