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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
Congenital prekallikrein deficiency inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital prothrombin deficiency thrombophilia due to thrombin defect
1 gene
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1 of 1 corroborated by 2+ sources
F2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 388 →
Congenital pulmonary valve atresia Testicular anomaly with congenital heart disease
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 60 →
Congenital pulmonary valve atresia GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 60 →
Congenital retinal aneurysm Congenital retinal anomaly
1 gene
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RS1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital retinal aneurysm X-linked retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
RS1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital retinal anomaly X-linked retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
RS1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital sialidosis Sialidosis
1 gene
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1 of 1 corroborated by 2+ sources
NEU1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital small-platelet thrombocytopenia thrombocytopenia 3
1 gene
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1 of 1 corroborated by 2+ sources
FYB1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital smooth muscle hamartoma Developmental malformations-deafness-dystonia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
Congenital smooth muscle hamartoma Dystonia-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
Connective and soft tissue disorder Vascular ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL3A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 334 →
Connective and soft tissue disorder ehlers-danlos syndrome, vascular type
1 gene
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1 of 1 corroborated by 2+ sources
COL3A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 334 →
Contiguous abcd1-dxs1375e deletion syndrome severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCAP31(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Continuous spike and wave during sleep syndrome Focal epilepsy with speech disorder and impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 365 →
Contractures, pterygia, and spondylocarpotarsal fusion syndrome Contractures, pterygia, and variable skeletal fusions syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cooks syndrome isolated Pierre-Robin syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 310 →
Cooleys anemia Dominant beta-thalassemia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Cooleys anemia Hemoglobin c disease
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Cooleys anemia Hemoglobin c beta thalassemia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Cooleys anemia Hemoglobin d disease
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Cooleys anemia Hemoglobin e beta thalassemia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Coproporphyria Hereditary coproporphyria
1 gene
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1 of 1 corroborated by 2+ sources
CPOX(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Coronary medial sclerosis of infancy hypopigmentation-punctate palmoplantar keratoderma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 128 →
Corpus callosum agenesis with abnormal genitalia X-linked lissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
ARX(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 259 →

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