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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
Boomerang dysplasia FLNB-associated autosomal dominant filamin related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNB(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Borjeson-forssman-lehmann syndrome Congenital hypoplasia of penis
1 gene
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1 of 1 corroborated by 2+ sources
PHF6(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 398 →
Bothnia retinal dystrophy RLBP1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Boucher-neuhauser syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Boucher-neuhauser syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Boucher-neuhauser syndrome retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Boucher-neuhauser syndrome PNPLA6-related spastic paraplegia with or without ataxia
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Brachial plexus neuritis Neuralgic amyotrophy
1 gene
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1 of 1 corroborated by 2+ sources
SEPTIN9(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brachydactyly with hypertension Hypertension and brachydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PDE3A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brachydactyly-short stature-retinits pigmentosa syndrome Metaphyseal chondrodysplasia with retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
CWC27(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 373 →
Brachydactyly-short stature-retinits pigmentosa syndrome Retinitis pigmentosa with or without skeletal anomalies
1 gene
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1 of 1 corroborated by 2+ sources
CWC27(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 373 →
Brachydactyly-syndactyly syndrome Brachymesophalangy
1 gene
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1 of 1 corroborated by 2+ sources
HOXD13(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 397 →
Brachydactyly-syndactyly syndrome Zygodactyly
1 gene
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1 of 1 corroborated by 2+ sources
HOXD13(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 397 →
Brachymesophalangy Zygodactyly
1 gene
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1 of 1 corroborated by 2+ sources
HOXD13(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 397 →
Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HMGB1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brachyrachia Congenital benign spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Brachyrachia Digital arthropathy-brachydactyly, familial
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 →
Brachyrachia 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 →
Brachyrachia Scapuloperoneal spinal muscular atrophy
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 →
Brachyrachia TRPV4-related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Brain abnormalities neurodegeneration dysosteosclerosis Early-onset calcifying leukoencephalopathy-skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
CSF1R(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brain abnormalities neurodegeneration dysosteosclerosis leukoencephalopathy, diffuse hereditary, with spheroids 1
1 gene
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1 of 1 corroborated by 2+ sources
CSF1R(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Bresek syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 332 →
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome ifap syndrome 1, with or without bresheck syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 332 →
Brain tumor-polyposis syndrome Familial adenomatous polyposis
1 gene
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1 of 1 corroborated by 2+ sources
APC(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 41 →

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