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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
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. —
Moyamoya angiopathy Tetany
1 gene
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1 of 1 corroborated by 2+ sources
CNNM2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Learning disorders Thauvin-robinet-faivre syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FIBP(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Microphthalmos Trichiasis
1 gene
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MCM7(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction Trichomegaly
1 gene
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1 of 1 corroborated by 2+ sources
FGF5(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
syndromic intellectual disability Verheij syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 224 →
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay X-linked intellectual disability-cerebellar hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OPHN1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Xia-gibbs syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
syndromic intellectual disability Zunich neuroectodermal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGL(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Bosley-salih-alorainy syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
HOXA1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
BPTF(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
C syndrome Proliferative diabetic retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CD96(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 399 →
Cardiac and skeletal myopathy Ventricular fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
ACTN2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 4 →

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