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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
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Duodenal atresia
1 gene
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1 of 1 corroborated by 2+ sources
GUCY2C(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 172 →
Chronic pain Primary erythromelalgia
1 gene
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1 of 1 corroborated by 2+ sources
SCN9A(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 164 →
Chung-jansen syndrome Developmental delay with intellectual disability and obesity
1 gene
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1 of 1 corroborated by 2+ sources
PHIP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Chung-jansen syndrome PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PHIP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Chuvash erythrocytosis Erythrocytosis due to tissue hypoxemia
1 gene
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1 of 1 corroborated by 2+ sources
VHL(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 385 →
Ciliary dyskinesia with retinitis pigmentosa Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 84 →
Ciliary dyskinesia with retinitis pigmentosa RPGR-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 84 →
Cinca syndrome Infantile neurological cutaneous and articular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NLRP3(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 192 →
Ck syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 381 →
Clapo syndrome Cloves syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Clapo syndrome Congenital intestinal duplication
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Clapo syndrome Congenital macrodactylia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Clapo syndrome Congenital malformation syndromes involving early overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Clapo syndrome Hemifacial myohyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Muggenthaler-chowdhury-chioza syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HYAL2(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cleft lip/palate with abnormal thumbs and microcephaly Roberts syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ESCO2(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cleft palate cardiac defects impaired intellectual development Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cleft palate psychomotor retardation distinctive facial features palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KDM1A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 409 →
Cleft palate with ankyloglossia Cleft palate x-linked
1 gene
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1 of 1 corroborated by 2+ sources
TBX22(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 282 →
Cleft palate with ankyloglossia X-linked cleft palate and ankloglossia
1 gene
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1 of 1 corroborated by 2+ sources
TBX22(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 282 →
Cleft palate x-linked X-linked cleft palate and ankloglossia
1 gene
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1 of 1 corroborated by 2+ sources
TBX22(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 282 →
Cloves syndrome Congenital intestinal duplication
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Congenital macrodactylia
1 gene
Show details
1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Congenital malformation syndromes involving early overgrowth
1 gene
Show details
1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Hemifacial myohyperplasia
1 gene
Show details
1 of 1 corroborated by 2+ sources
PIK3CA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →

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