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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
Café-au-lait macules Giant cell glioblastoma
1 gene
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LZTR1(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Avoidant restrictive food intake disorder Carotid artery stenosis
1 gene
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1 of 1 corroborated by 2+ sources
APOE(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
12p12.1 microdeletion syndrome Vertebral column disorder
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
1p36 deletion syndrome Silverman-Handmaker type dyssegmental dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HSPG2(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 350 →
1p36 deletion syndrome radio-tartaglia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPEN(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 350 →
2-methylbutyryl-coa dehydrogenase deficiency Rheumatic disease
1 gene
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1 of 1 corroborated by 2+ sources
ACADSB(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Abcd syndrome Waardenburg syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Acatalasia Optic neuritis
1 gene
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1 of 1 corroborated by 2+ sources
CAT(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Acral self-healing collodion baby Congenital ichthyosis
1 gene
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1 of 1 corroborated by 2+ sources
TGM1(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 233 →
Agammaglobulinemia immunodeficiency 14b, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 181 →
Agammaglobulinemia immunodeficiency 14
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 181 →
Agammaglobulinemia Short syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3R1(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Agammaglobulinemia PIK3R1-related immunodeficiency and SHORT syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3R1(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Antecubital pterygium syndrome Malunion fracture
1 gene
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1 of 1 corroborated by 2+ sources
PSD3(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 287 →
Arginase deficiency Hyperbilirubinemia
1 gene
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1 of 1 corroborated by 2+ sources
ARG1(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Hyperbilirubinemia immunodeficiency 15a
1 gene
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1 of 1 corroborated by 2+ sources
IKBKB(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic brain Malunion fracture
1 gene
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1 of 1 corroborated by 2+ sources
TRAPPC9(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Intellectual developmental disorder microcephaly strabismus behaviora
1 gene
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1 of 1 corroborated by 2+ sources
POGZ(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Intellectual developmental disorder with retinitis pigmentosa Intracranial hemorrhage
1 gene
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1 of 1 corroborated by 2+ sources
SCAPER(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Intestinal aganglionosis Waardenburg syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
lamb-shaffer syndrome Vertebral column disorder
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Costello syndrome legius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPRED1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Hearing loss with hypertrophic cardiomyopathy Waardenburg syndrome
1 gene
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MYO6(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Erythrocytosis Hemoglobin high altitude adaptation
1 gene
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1 of 1 corroborated by 2+ sources
EGLN1(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Hengel maroofian schols syndrome Malunion fracture
1 gene
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1 of 1 corroborated by 2+ sources
BCAS3(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 287 →

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