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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
Chromosome 5q12 deletion syndrome Esophageal atresia
1 gene
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PDE4D(1)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Cleft lip/palate-ectodermal dysplasia syndrome Ectodermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
NECTIN1(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
COG6-congenital disorder of glycosylation Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
COG6(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 311 →
Nasodigitoacoustic syndrome Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
GPC4(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Aplastic anemia nijmegen breakage syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NBN(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Hereditary breast cancer nijmegen breakage syndrome
1 gene
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NBN(1)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 132 →
Orofaciodigital syndrome orofaciodigital syndrome type 14
1 gene
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1 of 1 corroborated by 2+ sources
C2CD3(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 8 →
Colorectal adenomatous polyposis Hereditary breast cancer
1 gene
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1 of 1 corroborated by 2+ sources
MUTYH(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Congenital cornea plana Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
KERA(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Congenital hypotrichosis with juvenile macular dystrophy Ectodermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
CDH3(5)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Congenital malformation of cornea Corneal dystrophy
1 gene
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KERA(1)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Coronary aneurysm MAN1B1-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
MAN1B1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
megalencephaly-polydactyly syndrome Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Hereditary breast cancer microcephaly with intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MCPH1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
microphthalmia, syndromic 2 Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
BCOR(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Aplastic anemia mucopolysaccharidosis type 2
1 gene
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1 of 1 corroborated by 2+ sources
IDS(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Brainstem atrophy Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
MCOLN1(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Autoimmune enteropathy and endocrinopathy Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Avellino corneal dystrophy Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TGFBI(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
BARD1-related cancer predisposition Hereditary breast cancer
1 gene
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1 of 1 corroborated by 2+ sources
BARD1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 132 →
congenital myasthenic syndrome 2A Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
congenital myasthenic syndrome 2C Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Congenital prekallikrein deficiency Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Congenital tufting enteropathy Hereditary breast cancer
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —

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