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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
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema G6PD deficiency
1 gene
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1 of 1 corroborated by 2+ sources
G6PD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Aniridia-cerebellar ataxia-intellectual disability syndrome Bilateral congenital mydriasis
1 gene
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1 of 1 corroborated by 2+ sources
ITPR1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Aniridia-cerebellar ataxia-intellectual disability syndrome spinocerebellar ataxia type 29
1 gene
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1 of 1 corroborated by 2+ sources
ITPR1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Aniridia-cerebellar ataxia-intellectual disability syndrome Cataract-corneal dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Aniridia-cerebellar ataxia-intellectual disability syndrome PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Anisometropia PTEN hamartoma tumor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 291 →
Anisometropia Trichiasis
1 gene
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MCM7(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 291 →
Ankylosis Congenital aural atresia
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Ankylosis Crouzon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Annular epidermolytic ichthyosis Diffuse nonepidermolytic palmoplantar keratoderma
1 gene
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1 of 1 corroborated by 2+ sources
KRT1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 230 →
Annular epidermolytic ichthyosis Keratosis of greither
1 gene
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1 of 1 corroborated by 2+ sources
KRT1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 230 →
anterior segment dysgenesis 4 Ataxia with deafness and vision loss
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
anterior segment dysgenesis 4 Axenfeld anomaly
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 253 →
anterior segment dysgenesis 4 Iridogoniodysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 253 →
anterior segment dysgenesis 7 Congenital cataract microcornea with corneal opacity
1 gene
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1 of 1 corroborated by 2+ sources
PXDN(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Aortic atherosclerosis idiopathic multidrug-resistant nephrotic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DAAM2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Apoceruloplasmin deficiency Hemosiderosis
1 gene
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1 of 1 corroborated by 2+ sources
CP(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 231 →
Apoceruloplasmin deficiency hemochromatosis type 4
1 gene
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1 of 1 corroborated by 2+ sources
SLC40A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 231 →
Apolipoprotein a-i amyloidosis Apolipoprotein a-i deficiency
1 gene
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1 of 1 corroborated by 2+ sources
APOA1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Arboleda-tham syndrome Intellectual disability with craniofacial anomalies and cardiac defects
1 gene
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1 of 1 corroborated by 2+ sources
KAT6A(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
renal tubular dysgenesis - ACE Rheumatic disease of mitral valve
1 gene
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1 of 1 corroborated by 2+ sources
ACE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 195 →
renal tubular dysgenesis - ACE Rheumatic mitral regurgitation
1 gene
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1 of 1 corroborated by 2+ sources
ACE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 195 →
renal tubular dysgenesis of genetic origin Tonne-kalscheuer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
REN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 95 →
Restrictive dermopathy Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 65 →
Cerebral small vessel disease Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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