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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 small ears Microtia
1 gene
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1 of 1 corroborated by 2+ sources
HOXA2(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Miller-dieker syndrome Postaxial acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
DHODH(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 223 →
Congenital muscular hypertrophy-cerebral syndrome Wiedemann-steiner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMC1A(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 297 →
congenital myasthenic syndrome 9 Ptosis
1 gene
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1 of 1 corroborated by 2+ sources
MUSK(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital nemaline myopathy Zebra body myopathy
1 gene
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1 of 1 corroborated by 2+ sources
ACTA1(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital nemaline myopathy nemaline myopathy 10
1 gene
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1 of 1 corroborated by 2+ sources
LMOD3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 51 →
Congenital nemaline myopathy Nebulin-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
NEB(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 51 →
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 3
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 1
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B1(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Congenital retinal aneurysm Retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
RS1(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital retinal anomaly Retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
RS1(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital small ears Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 65 →
Congenital small ears Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 65 →
Congenital small ears Lipoatrophic diabetes mellitus
1 gene
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LMNA(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 65 →
Congenital stenosis of aortic valve hypercholesterolemia, autosomal dominant, type B
1 gene
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1 of 1 corroborated by 2+ sources
APOB(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 140 →
Congenital stenosis of aortic valve Peptic esophagitis
1 gene
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VDR(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital stenosis of aortic valve cutis laxa, autosomal dominant 1
1 gene
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1 of 1 corroborated by 2+ sources
ELN(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital-onset steinert myotonic dystrophy Myotonic dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
DMPK(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 161 →
Conotruncal anomaly face syndrome Velocardiofacial syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX1(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 283 →
Constipation Eye pain
1 gene
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POMC(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 376 →
Constipation Rhabdomyoma
1 gene
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POMC(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 376 →
Constipation Sacroiliitis
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 376 →
Contractures, pterygia, and spondylocarpotarsal fusion syndrome Sheldon-hall syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH3(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Contractures, pterygia, and variable skeletal fusions syndrome Sheldon-hall syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Coronary medial sclerosis of infancy Pseudoxanthoma elasticum
1 gene
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ENPP1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 128 →

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