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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 aortic valve atresia Mental retardation with language impairment and autistic features
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 491 →
Congenital aortic valve atresia Intellectual developmental disorder with language impairment and with or without autistic features
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 491 →
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
1 gene
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1 of 1 corroborated by 2+ sources
CAPRIN1(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Language impairment Neurodevelopmental disorder and language delay with or without structural brain abnormalities
1 gene
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PPP2CA(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Language impairment Syndromic intellectual disability resembling other pp2a related neurodevelopmental disorders
1 gene
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PPP2CA(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder with language impairment and with or without autistic features Mental retardation with language impairment and autistic features
1 gene
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FOXP1(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 491 →
Intellectual developmental disorder language neurodegenerative Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism
1 gene
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1 of 1 corroborated by 2+ sources
NR4A2(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder language autism Mental retardation with language impairment and autistic features
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 491 →
Intellectual developmental disorder language autism Intellectual developmental disorder with language impairment and with or without autistic features
1 gene
Show details
1 of 1 corroborated by 2+ sources
FOXP1(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 491 →

Showing 9 of 34 matching pairs, sorted by significance (descending). Click a column header to sort.