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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
Cryptophthalmia Cryptophthalmos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FREM2(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Cryptophthalmos syndrome Cryptotria
1 gene
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1 of 1 corroborated by 2+ sources
FREM2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital venous anomaly cutis laxa, autosomal dominant 1
1 gene
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1 of 1 corroborated by 2+ sources
ELN(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
cutis laxa, autosomal dominant 1 Varicose veins
1 gene
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1 of 1 corroborated by 2+ sources
ELN(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
16q24.3 microdeletion syndrome Astigmatism
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD11(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
17-beta-hydroxysteroid dehydrogenase deficiency 46,xy disorder of sex developmen
1 gene
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1 of 1 corroborated by 2+ sources
HSD17B3(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 344 →
17,20-lyase deficiency 46,xy disorder of sex developmen
1 gene
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CYP17A1(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
22q11 deletion syndrome Cyclocephaly
1 gene
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1 of 1 corroborated by 2+ sources
FGF8(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
46,xy disorder of sex developmen Steroid 17-alpha-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
ABCA4-related retinopathy Mandibulofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
ABCA4(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Absence epilepsy Benign paroxysmal torticollis of infancy
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1A(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Absence epilepsy Conn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1H(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 47 →
Absence epilepsy Juvenile absence epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
EFHC1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 47 →
Acatalasia Bonnevie-ullrich syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CAT(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 285 →
Aceruloplasminemia Iron overload
1 gene
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1 of 1 corroborated by 2+ sources
CP(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 231 →
Achromatopsia ATF6-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
ATF6(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 286 →
Achromatopsia CNGA3-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CNGA3(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 286 →
Achromatopsia CNGB3-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CNGB3(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 286 →
Achromatopsia GNAT2-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
GNAT2(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 286 →
Achromatopsia PDE6C-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6C(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 286 →
Acromesomelic dysplasia Trident hand
1 gene
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NPR2(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 52 →
Acromesomelic dysplasia Angel-shaped phalangoepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
GDF5(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Acromesomelic dysplasia Congenital pectus carinatum
1 gene
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1 of 1 corroborated by 2+ sources
FBN1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 52 →
Adrenal gland neoplasms pitt-hopkins syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TCF4(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 222 →
Albinism Skin hair eye pigmentation variation
1 gene
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1 of 1 corroborated by 2+ sources
TPCN2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 298 →

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