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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
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PIK3R1-related immunodeficiency and SHORT syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3R1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Clapo syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Cloves syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Congenital microvillous atrophy Microvillus inclusion disease
1 gene
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1 of 1 corroborated by 2+ sources
MYO5B(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Bilateral multicystic dysplastic kidney Renal cysts and diabetes syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(7)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 23 →
Bile duct cancer Intellectual developmental disorder dysmorphic brain
1 gene
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1 of 1 corroborated by 2+ sources
TRAPPC9(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Ankylosis Biliary tract neoplasms
1 gene
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FGFR2(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 85 →
Beare-stevenson cutis gyrata syndrome Biliary tract neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 85 →
Biliary tract neoplasms Cutis gyrata syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 85 →
Bleeding esophageal varices Vipoma
1 gene
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1 of 1 corroborated by 2+ sources
SST(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 270 →
Blepharophimosis syndrome Simpson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis syndrome KAT6B-related multiple congenital anomalies syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED12(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis syndrome MED12-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED12(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis-intellectual disability syndrome Simpson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis-intellectual disability syndrome KAT6B-related multiple congenital anomalies syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis-intellectual disability syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED12(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis-intellectual disability syndrome MED12-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED12(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 200 →
Blepharophimosis syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FOXL2(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Blood protein disorder Hyperthyroxinemia
1 gene
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1 of 1 corroborated by 2+ sources
ALB(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Blue cone monochromatism Tritanopia
1 gene
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1 of 1 corroborated by 2+ sources
OPN1SW(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 214 →
Blue cone monochromatism red color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1LW(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 214 →
Blue cone monochromatism red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 214 →
Bnar syndrome Trigonocephaly
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 185 →
Body skin hyperlaxity Combined deficiency of vitamin k-dependent clotting factors
1 gene
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1 of 1 corroborated by 2+ sources
GGCX(7)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —

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