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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
Middle lobe syndrome Townes-brocks syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SALL1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
mitchell syndrome Peroxisomal acyl-coa oxidase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ACOX1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Mitral valve disease renal tubular dysgenesis - ACE
1 gene
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1 of 1 corroborated by 2+ sources
ACE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 195 →
Mucocutaneous venous malformations Venous malformation
1 gene
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1 of 1 corroborated by 2+ sources
TEK(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 261 →
multiple endocrine neoplasia type 1 Pituitary gigantism
1 gene
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1 of 1 corroborated by 2+ sources
MEN1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 82 →
multiple symmetric lipomatosis with partial lipodystrophy Nail dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
MFN2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Caudate atrophy Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
TYROBP(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 333 →
Cavitary optic disc anomalies Cavitary optic disk anomaly
1 gene
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1 of 1 corroborated by 2+ sources
MMP19(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 177 →
Cavitary optic disk anomaly Dysbetalipoproteinemia
1 gene
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1 of 1 corroborated by 2+ sources
APOE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 177 →
Cayler cardiofacial syndrome Otofaciocervical syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 145 →
Cenani-lenz syndrome Familial adenomatous polyposis
1 gene
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1 of 1 corroborated by 2+ sources
APC(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 41 →
Cenani-lenz syndrome gastric adenocarcinoma and proximal polyposis of the stomach
1 gene
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1 of 1 corroborated by 2+ sources
APC(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 41 →
Cenani-lenz syndrome congenital myasthenic syndrome 17
1 gene
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1 of 1 corroborated by 2+ sources
LRP4(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Central core disease Malignant hyperthermia
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 326 →
Central nervous system neoplasms Choroid plexus carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
TP53(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 3 →
Central nervous system neoplasms Choroid plexus papilloma
1 gene
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1 of 1 corroborated by 2+ sources
TP53(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 3 →
Central nervous system neoplasms Mucoepidermoid carcinoma
1 gene
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BAP1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Central retinal vein occlusion Congenital thrombotic thrombocytopenic purpura
1 gene
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1 of 1 corroborated by 2+ sources
PROC(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 314 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Cerebellar ataxia and hypogonadotropic hypogonadism
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Boucher-neuhauser syndrome Cerebellar ataxia and hypogonadotropic hypogonadism
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Cerebellar ataxia and hypogonadotropic hypogonadism Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Cerebellar ataxia and hypogonadotropic hypogonadism Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia Cerebellar ataxia, neuropathy, and vestibular areflexia
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 190 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Cerebellar ataxia-hypogonadism
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Boucher-neuhauser syndrome Cerebellar ataxia-hypogonadism
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →

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