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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Congenital pulmonary valve atresia Yorifuji okuno syndrome
1 gene
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GATA4(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 60 →
Testicular anomaly with congenital heart disease Yorifuji okuno syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 60 →
Cole disease Crystal arthropathy
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 128 →
Autoimmune polyendocrine syndrome Collagenous colitis
1 gene
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1 of 1 corroborated by 2+ sources
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 1 →
Collagenous colitis Esophageal achalasia
1 gene
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1 of 1 corroborated by 2+ sources
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 1 →
Colorectal cancer susceptibility POLD1-related polyposis and colorectal cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLD1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 410 →
Colorectal cancer susceptibility mandibular hypoplasia-deafness-progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLD1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 410 →
Colorectal cancer susceptibility POLE-related polyposis and colorectal cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLE(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Combined d-2- and l-2-hydroxyglutaric aciduria Gemistocytic astrocytoma
1 gene
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1 of 1 corroborated by 2+ sources
IDH2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency Neural tube defects, folate-sensitive
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Combined molybdoflavoprotein enzyme deficiency idiopathic multidrug-resistant nephrotic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DAAM2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Combined molybdoflavoprotein enzyme deficiency sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
1 gene
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1 of 1 corroborated by 2+ sources
MOCS1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Combined molybdoflavoprotein enzyme deficiency sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
1 gene
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1 of 1 corroborated by 2+ sources
MOCS2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Concussion PTEN hamartoma tumor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 291 →
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Keratosis palmoplantaris striata
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Congenital foot deformity
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Ankyloblepharon-ectodermal defects-cleft lip/palate Congenital foot deformity
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Congenital fusion of ribs Congenital hypoplasia of penis
1 gene
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PHF6(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 398 →
Congenital glucokinase-related hyperinsulinism Intestinal disaccharide malabsorption
1 gene
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1 of 1 corroborated by 2+ sources
GCK(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Clapo syndrome Congenital hemihypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 44 →
Cloves syndrome Congenital hemihypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 44 →
Congenital hemihypertrophy Congenital intestinal duplication
1 gene
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PIK3CA(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 44 →
Congenital hernia of foramen of bochdalek Doyne honeycomb retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Congenital hypothyroidism due to absence of thyroid gland Interrupted aortic arch
1 gene
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NKX2-5(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Congenital membranous nephropathy Cryopyrin-associated periodic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MME(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —

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