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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
Cardiac tamponade Commisural aphasia
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 258 →
Cardiac tamponade Dejerine-lichtheim phenomenon
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 258 →
Cardiac, facial, and digital anomalies with developmental delay Cleft palate cardiac defects impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cardiac, facial, and digital anomalies with developmental delay Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Carvajal syndrome Lethal acantholytic epidermolysis bullosa
1 gene
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1 of 1 corroborated by 2+ sources
DSP(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 201 →
Carvajal syndrome Ventricular arrhythmia
1 gene
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1 of 1 corroborated by 2+ sources
DSP(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 201 →
Cataplexy Ophthalmoplegia
1 gene
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NPC1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 380 →
cataract 50 with or without glaucoma Cataract-glaucoma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRPM3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 109 →
Cataract-corneal dystrophy syndrome Congenital aniridia
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cataract-corneal dystrophy syndrome Optic nerve disorder
1 gene
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PAX6(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Cataract-corneal dystrophy syndrome Gillespie syndrome
1 gene
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PAX6(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Cataract-glaucoma syndrome Congenital cataract anterior segment dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PITX3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 109 →
Erythrocyte amp deaminase deficiency Myoadenylate deaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
AMPD3(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Erythrocytosis due to tissue hypoxemia Pancreatic cyst
1 gene
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VHL(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Erythrokeratodermia-cardiomyopathy syndrome Lethal acantholytic epidermolysis bullosa
1 gene
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1 of 1 corroborated by 2+ sources
DSP(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 201 →
Erythrokeratodermia-cardiomyopathy syndrome Ventricular arrhythmia
1 gene
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DSP(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 201 →
Esophageal and gastric varices Sweat gland disease
1 gene
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1 of 1 corroborated by 2+ sources
SST(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 270 →
Factor h deficiency Panuveitis
1 gene
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1 of 1 corroborated by 2+ sources
CFH(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 107 →
Factor v deficiency thrombophilia due to activated protein c resistance
1 gene
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1 of 1 corroborated by 2+ sources
F5(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 37 →
Factor viii deficiency Hemophilia a carriers
1 gene
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1 of 1 corroborated by 2+ sources
F8(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
FADD-related immunodeficiency Oculoauricular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FADD(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
familial acute necrotizing encephalopathy Paramyotonia congenita
1 gene
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1 of 1 corroborated by 2+ sources
RANBP2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 163 →
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 154 →
Familial hypoaldosteronism Glucocorticoid-remediable aldosteronism
1 gene
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1 of 1 corroborated by 2+ sources
CYP11B2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 276 →
Childhood-onset glut1 deficiency syndrome 2 Familial infantile convulsions with paroxysmal choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
PRRT2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 58 →

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