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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
Brain tumor-polyposis syndrome gastric adenocarcinoma and proximal polyposis of the stomach
1 gene
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1 of 1 corroborated by 2+ sources
APC(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 41 →
Brain-lung-thyroid syndrome NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Branchial arch abnormalities syndrome Branchial cleft anomalies
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 144 →
BRCA1-related cancer predisposition fanconi anemia, complementation group s
1 gene
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BRCA1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
BRCA2-related cancer predisposition fanconi anemia complementation group d1
1 gene
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BRCA2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Breast cyst Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Breast cyst sinoatrial node dysfunction and deafness
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Breast/nipple aplasia or hypoplasia Congenital absence of breast with absent nipple
1 gene
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1 of 1 corroborated by 2+ sources
PTPRF(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Bresek syndrome ifap syndrome 1, with or without bresheck syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 332 →
Brooke-spiegler syndrome Familial cylindromatosis
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brooke-spiegler syndrome Multiple familial trichoepithelioma
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brooke-spiegler syndrome frontotemporal dementia and/or amyotrophic lateral sclerosis 8
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Brown oculocutaneous albinism oculocutaneous albinism type 2
1 gene
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1 of 1 corroborated by 2+ sources
OCA2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Bruton type agammaglobulinemia X-linked agammaglobulinemia
1 gene
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1 of 1 corroborated by 2+ sources
BTK(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Bruton type agammaglobulinemia X-linked hypogammaglobulinemia
1 gene
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1 of 1 corroborated by 2+ sources
BTK(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Bulbo-spinal atrophy, x-linked Partial androgen insensitivity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AR(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 193 →
Bulbo-spinal atrophy, x-linked Kennedy disease
1 gene
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1 of 1 corroborated by 2+ sources
AR(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 193 →
Bullous diffuse cutaneous mastocytosis Mast cell leukemia
1 gene
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KIT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Bullous diffuse cutaneous mastocytosis Telangiectasia macularis eruptiva perstans
1 gene
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1 of 1 corroborated by 2+ sources
KIT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Bullous diffuse cutaneous mastocytosis Testicular seminoma
1 gene
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KIT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Bullous diffuse cutaneous mastocytosis Urticaria pigmentosa
1 gene
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KIT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Bullous pyoderma gangrenosum Pyoderma gangrenosum
1 gene
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1 of 1 corroborated by 2+ sources
PTPN6(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Burnett schwartz berberian syndrome Tricuspid atresia
1 gene
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LRP1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 194 →
Buschke-ollendorff syndrome Dermatofibrosis lenticularis disseminata
1 gene
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1 of 1 corroborated by 2+ sources
LEMD3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 175 →
Buschke-ollendorff syndrome Osteopoikilosis
1 gene
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1 of 1 corroborated by 2+ sources
LEMD3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 175 →

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