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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
Anterior segment dysgenesis Cornea plana
1 gene
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1 of 1 corroborated by 2+ sources
KERA(5)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Craniotubular dysplasia Skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TMEM53(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 68 →
Anterior segment dysgenesis CYP1B1-related glaucoma with or without anterior segment dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
CYP1B1(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
immunodeficiency 84 Nasal disorder
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
immunoskeletal dysplasia with neurodevelopmental abnormalities Skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
EXTL3(3)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 68 →
Intellectual developmental disorder growth seizures Systemic mastocytosis
1 gene
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1 of 1 corroborated by 2+ sources
ABCA2(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 235 →
Fuchs endothelial dystrophy Intellectual developmental disorder seizures cerebellar
1 gene
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1 of 1 corroborated by 2+ sources
RORA(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Fuchs endothelial dystrophy intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
PIDD1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 75 →
INTU-related skeletal ciliopathy Short-rib thoracic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
INTU(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 22 →
Fuchs endothelial dystrophy LAMA5-related multisystemic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LAMA5(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
LCA5-related retinopathy Polycystic liver disease
1 gene
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1 of 1 corroborated by 2+ sources
LCA5(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
EYS-related retinopathy Systemic mastocytosis
1 gene
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1 of 1 corroborated by 2+ sources
EYS(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Bullous pemphigoid FLNB-associated autosomal dominant filamin related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNB(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Congenital clubfoot FLNB-associated autosomal dominant filamin related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNB(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Anti-neutrophil antibody associated vasculitis fragile x syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FMR1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Congenital clubfoot developmental and epileptic encephalopathy, 29
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Developmental delay with or without epilepsy Short-rib thoracic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 22 →
Dilatation of left cardiac ventricle Restrictive cardiomyopathy
1 gene
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ACTC1(1)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
dilated cardiomyopathy 1D Restrictive cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TNNT2(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
dilated cardiomyopathy 1FF Restrictive cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TNNI3(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
dilated cardiomyopathy 1I Restrictive cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
DES(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 4 →
dilated cardiomyopathy 1KK Restrictive cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYPN(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
dilated cardiomyopathy 1R Restrictive cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
dilated cardiomyopathy 2A Restrictive cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TNNI3(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Congenital clubfoot ehlers-danlos syndrome, musculocontractural type 1
1 gene
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1 of 1 corroborated by 2+ sources
CHST14(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 24 →

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