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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
Developmental delay with hypotonia and behavioral abnormalities floating-harbor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SRCAP(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Developmental delay with immunodeficiency syndrome immunodeficiency, developmental delay, and hypohomocysteinemia
1 gene
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1 of 1 corroborated by 2+ sources
NFE2L2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Developmental delay with intellectual disability and obesity 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. —
Developmental malformations-deafness-dystonia syndrome Dystonia-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
Diastrophic dysplasia Diastrophic dysplasia, broad bone-platyspondylic variant
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 183 →
Diastrophic dysplasia Ear disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 183 →
Diastrophic dysplasia SLC26A2-related skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A2(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 183 →
Diastrophic dysplasia, broad bone-platyspondylic variant Ear disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 183 →
Diastrophic dysplasia, broad bone-platyspondylic variant SLC26A2-related skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 183 →
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ11(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency hyperinsulinemic hypoglycemia, familial, 1
1 gene
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1 of 1 corroborated by 2+ sources
ABCC8(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Dicer1 syndrome Sertoli-leydig cell tumor of ovary
1 gene
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1 of 1 corroborated by 2+ sources
DICER1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 395 →
Diffuse nonepidermolytic palmoplantar keratoderma Keratosis of greither
1 gene
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1 of 1 corroborated by 2+ sources
KRT1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 230 →
Digital arthropathy-brachydactyly, familial Parastremmatic dwarfism
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Digital arthropathy-brachydactyly, familial Scapuloperoneal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Digital arthropathy-brachydactyly, familial TRPV4-related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Dilatation of left cardiac ventricle dilated cardiomyopathy 1R
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
dilated cardiomyopathy 1A Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
dilated cardiomyopathy 1A Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
dilated cardiomyopathy 1A Lipoatrophic diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
dilated cardiomyopathy 1A Malouf syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
dilated cardiomyopathy 1E SCN5A-related cardiac rhythm disorder
1 gene
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SCN5A(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 129 →
dilated cardiomyopathy 1EE MYH-6 related congenital heart defects
1 gene
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MYH6(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 318 →
dilated cardiomyopathy 1FF dilated cardiomyopathy 2A
1 gene
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TNNI3(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
dilated cardiomyopathy 1G Progressive contractures limb-girdle weakness muscle dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →

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