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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
hereditary mixed polyposis syndrome Hypospadias
1 gene
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1 of 1 corroborated by 2+ sources
GREM1(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
holt-oram syndrome Ventricular septal defect
1 gene
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1 of 1 corroborated by 2+ sources
TBX5(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Hyperinsulinism Hyperinsulinism-hyperammonemia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLUD1(6)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. Cluster 36 →
Hyperinsulinism Hyperthermia
1 gene
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1 of 1 corroborated by 2+ sources
GPX1(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Lupus nephritis Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(3)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
mucopolysaccharidosis type 7 Proteinuria
1 gene
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1 of 1 corroborated by 2+ sources
GUSB(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Brain disease neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(3)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Jeune syndrome NIK deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MAP3K14(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. Cluster 22 →
Hyperinsulinism obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HADH(4)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Brain disease ornithine carbamoyltransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
OTC(3)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
3-hydroxyacyl-coa dehydrogenase deficiency Hyperinsulinism
1 gene
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1 of 1 corroborated by 2+ sources
HADH(6)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Abetalipoproteinemia Hyperinsulinism
1 gene
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1 of 1 corroborated by 2+ sources
MTTP(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. Cluster 36 →
Adenosine kinase deficiency Hypospadias
1 gene
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1 of 1 corroborated by 2+ sources
ADK(3)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Alveolar capillary dysplasia Ventricular septal defect
1 gene
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1 of 1 corroborated by 2+ sources
FOXF1(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Anus neoplasms Brain disease
1 gene
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1 of 1 corroborated by 2+ sources
IFNB1(2)
0.023 1.000 2.73e-3 3.66e-3 ✓ sig. —
Bryant-li-bhoj neurodevelopmental syndrome Intellectual developmental disorder
2 genes
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2 of 2 corroborated by 2+ sources
H3-3B(4), H3-3A(4)
0.002 1.000 2.76e-3 3.70e-3 ✓ sig. —
Boudin-mortier syndrome Marfan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NPR3(5)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. Cluster 12 →
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Leukemia
1 gene
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1 of 1 corroborated by 2+ sources
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
ATF6-related retinopathy Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
ATF6(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Dna ligase iv deficiency Nasopharyngeal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
LIG4(4)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Early-onset obesity-hyperphagia-severe developmental delay syndrome Nasopharyngeal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
NTRK2(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Cerebellar cortical atrophy Nystagmus
1 gene
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MYO5A(1)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
CNGB3-related retinopathy Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
CNGB3(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Panhypopituitarism Winkelman bethge pfeiffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LHX3(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Nystagmus X-linked intellectual disability-cerebellar hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OPHN1(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —

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