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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
Intellectual disability, anterior maxillary protrusion, and strabismus syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
SOBP(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Isolated anhidrosis Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
ITPR2(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 287 →
isolated microphthalmia 6 Microphthalmos
1 gene
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1 of 1 corroborated by 2+ sources
PRSS56(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 56 →
KCNH1 associated disorder Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
KCNH1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1 gene
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VLDLR(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction Cerebral arterial disease
1 gene
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ADGRE3(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2F Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
HSPB1(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2Z Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
MORC2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
GARS1(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 15 →
Chopra-amiel-gordon syndrome Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD17(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
ciliary dyskinesia, primary, 47, and lissencephaly T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
TP73(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cleft lip/palate-ectodermal dysplasia syndrome Complete unilateral cleft lip
1 gene
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1 of 1 corroborated by 2+ sources
NECTIN1(6)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cleft palate cardiac defects impaired intellectual development Learning disorders
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion Learning disorders
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay PMM2-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
poirier-bienvenu neurodevelopmental syndrome T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
CSNK2B(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
PRKAG2-related cardiomyopathy Proliferative diabetic retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRKAG2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Progressive myoclonic epilepsy with renal failure
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(4)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
PROM1-related dominant retinopathy Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
PROM1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
PROM1-related recessive retinopathy Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
PROM1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Complete unilateral cleft lip Proximal symphalangism
1 gene
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1 of 1 corroborated by 2+ sources
NOG(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Distal hereditary motor neuropathy Pyridoxamine 5'-phosphate oxidase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PNPO(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 15 →
Brain infarction recombinase activating gene 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RAG1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction leukoencephalopathy with vanishing white matter 3
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B3(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay lissencephaly spectrum disorder with complex brainstem malformation
1 gene
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1 of 1 corroborated by 2+ sources
MACF1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —

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