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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
Craniofacial dysplasia - osteopenia syndrome Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
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1 of 1 corroborated by 2+ sources
IRX5(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 345 →
Disproportionate tall stature Hypertelorism
1 gene
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PDZD8(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Hamamy syndrome Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
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IRX5(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 345 →
Intellectual developmental disorder with hypertelorism and distinctive facies Syndromic neurodevelopmental disorder with distinctive facial dysmorphism
1 gene
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CCNK(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Hypertelorism Intellectual developmental disorder autism dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
PDZD8(5)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Anodontia Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
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1 of 1 corroborated by 2+ sources
IRX5(2)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 345 →
Intellectual developmental disorder dysmorphic facial Intellectual developmental disorder with hypertelorism and distinctive facies
1 gene
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1 of 1 corroborated by 2+ sources
CCNK(5)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility Hypochromic microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
IRX5(3)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. —
Abnormality of the face Hypertelorism
1 gene
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PDZD8(1)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. —
Frontonasal dysplasia Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
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1 of 1 corroborated by 2+ sources
IRX5(3)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. Cluster 345 →
Autistic behavior Hypertelorism
1 gene
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PDZD8(1)
0.100 1.000 5.81e-4 1.00e-3 ✓ sig. —
Behavioral abnormality Hypertelorism
1 gene
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PDZD8(1)
0.067 1.000 9.04e-4 1.41e-3 ✓ sig. —

Showing 12 of 12 matching pairs, sorted by significance (ascending). Click a column header to sort.