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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
22q11.2 deletion syndrome Myoclonic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
JMJD1C(3)
0.071 0.200 2.92e-3 3.88e-3 ✓ sig. —
Epilepsy of infancy with migrating focal seizures Myoclonic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.071 0.200 2.92e-3 3.88e-3 ✓ sig. —
Malignant migrating partial seizures of infancy Myoclonic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.071 0.200 2.92e-3 3.88e-3 ✓ sig. —
Aneuploidy Splenic disease
1 gene
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1 of 1 corroborated by 2+ sources
TLX1(2)
0.071 0.200 2.92e-3 3.88e-3 ✓ sig. —
Diabetic foot Hepatic insufficiency
1 gene
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1 of 1 corroborated by 2+ sources
MAPK14(2)
0.071 0.200 2.92e-3 3.88e-3 ✓ sig. —
Coloboma Early onset vitamin b6 dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
ALDH7A1(2)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Urethral disease Urinary system disease
1 gene
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ERC1(1)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Dyschromatosis symmetrica hereditaria Rotator cuff tear
1 gene
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1 of 1 corroborated by 2+ sources
SASH1(6)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Anorectal malformation Antithrombin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MUC5B(2)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. Cluster 197 →
Anorectal malformation Ovarian diseases
1 gene
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1 of 1 corroborated by 2+ sources
TRPM2(3)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Hemiparkinsonism Secondary parkinson disease
1 gene
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1 of 1 corroborated by 2+ sources
SNCA(2)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. Cluster 256 →
Hyperglycinuria Macular telangiectasia
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A20(2)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Hyperpituitarism Orthostatic hypotension
1 gene
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1 of 1 corroborated by 2+ sources
ABCB1(3)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. Cluster 57 →
Hypotonia-cystinuria syndrome Mitochondrial myopathy
1 gene
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1 of 1 corroborated by 2+ sources
CAMKMT(3)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Hypertension and brachydactyly syndrome Thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
PDE3A(2)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
Thrombomodulin-related bleeding disorder Thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
THBD(5)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. Cluster 55 →
Bailey-Bloch congenital myopathy Congenital myopathy
1 gene
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1 of 1 corroborated by 2+ sources
STAC3(3)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
Body skin hyperlaxity Pulmonary arterial hypertension
1 gene
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1 of 1 corroborated by 2+ sources
GGCX(6)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
Borjeson-forssman-lehmann syndrome Pulmonary arterial hypertension
1 gene
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1 of 1 corroborated by 2+ sources
PHF6(7)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
Brachydactyly with hypertension Thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
PDE3A(4)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
Cardiac and skeletal myopathy Congenital myopathy
1 gene
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1 of 1 corroborated by 2+ sources
ACTN2(3)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
leukemia, acute myeloid, susceptibility to Thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
FLT3(2)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
lymphatic malformation 1 Non-immune hydrops fetalis
1 gene
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1 of 1 corroborated by 2+ sources
FLT4(2)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
Congenital myopathy MEGF10-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MEGF10(3)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. —
MERTK-related retinopathy Thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
MERTK(2)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. Cluster 55 →

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