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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
Biliary atresia Haddad syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PAH(2), EDN3(2)
0.051 0.222 1.40e-4 4.23e-4 ✓ sig. Cluster 387 →
Biliary atresia Congenital central hypoventilation syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PAH(2), EDN3(4)
0.051 0.222 1.40e-4 4.23e-4 ✓ sig. Cluster 387 →
Conduct disorder Spondylosis
3 genes
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LIG4(1), NALF1(1), PTPRD(1)
0.038 0.100 1.38e-4 4.18e-4 ✓ sig. —
Cone rod dystrophy and hearing loss Optic atrophy
2 genes
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2 of 2 corroborated by 2+ sources
CEP78(5), CEP250(5)
0.011 1.000 1.37e-4 4.15e-4 ✓ sig. —
Eye abnormalities Loeys-dietz syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TGFB2(6), TGFBR2(7)
0.063 0.125 1.36e-4 4.12e-4 ✓ sig. —
Eye abnormalities Walker-warburg syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CRPPA(3), COL4A1(3)
0.063 0.125 1.36e-4 4.12e-4 ✓ sig. Cluster 14 →
Cystitis Nuclear cataract
2 genes
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2 of 2 corroborated by 2+ sources
CRYBB2(2), CRYBB3(2)
0.063 0.133 1.34e-4 4.06e-4 ✓ sig. —
Amnesia Cystitis
2 genes
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2 of 2 corroborated by 2+ sources
NGF(2), POMC(2)
0.063 0.133 1.34e-4 4.06e-4 ✓ sig. —
Esophageal atresia Genetic predisposition to disease
3 genes
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3 of 3 corroborated by 2+ sources
TERT(2), GSTM1(2), CACNA1C(2)
0.038 0.094 1.32e-4 4.00e-4 ✓ sig. —
Auricle malformation Strabismus
2 genes
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KMT2D(1), PTPN11(1)
0.049 0.250 1.31e-4 3.98e-4 ✓ sig. —
Blepharoptosis Congenital epicanthus
2 genes
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ANKRD11(1), PTPN11(1)
0.063 0.143 1.30e-4 3.94e-4 ✓ sig. —
Bilateral parasagittal parieto-occipital polymicrogyria Yunis-varon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 103 →
Bilateral vestibulopathy Cerebellar ataxia, neuropathy, and vestibular areflexia
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 190 →
Birk-barel syndrome cataract 50 with or without glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TRPM3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 109 →
Biventricular noncompaction cardiomyopathy Ebstein anomaly
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
Biventricular noncompaction cardiomyopathy Parieto-occipital craniosynostosis
1 gene
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MYH7(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
Bladder neck obstruction Carcinoma in situ
1 gene
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1 of 1 corroborated by 2+ sources
PTGS2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 375 →
Bladder neck obstruction Urinary bladder neck obstruction
1 gene
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1 of 1 corroborated by 2+ sources
PTGS2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 375 →
Bleeding esophageal 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 →
Blepharocheilodontic syndrome Hereditary diffuse gastric and lobular breast cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDH1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 312 →
Blepharophimosis-ptosis-epicanthus inversus syndrome Granulosa cell tumor of ovary
1 gene
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1 of 1 corroborated by 2+ sources
FOXL2(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 395 →
Bloch sulzberger syndrome G6PD deficiency
1 gene
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1 of 1 corroborated by 2+ sources
G6PD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Blue rubber bleb nevus syndrome Bockenheimer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 261 →
Blue rubber bleb nevus syndrome Mucocutaneous venous malformations
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 261 →
Blue rubber bleb nevus syndrome TEK-related primary glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TEK(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 261 →

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