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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
12q15q21 microdeletion syndrome Intellectual developmental disorder dysmorphic skeletal
1 gene
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1 of 1 corroborated by 2+ sources
CNOT2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
12q15q21 microdeletion syndrome Intellectual developmental disorder dysmorphic speech skeletal
1 gene
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1 of 1 corroborated by 2+ sources
CNOT2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
16p13.2 microdeletion syndrome hao-fountain syndrome
1 gene
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1 of 1 corroborated by 2+ sources
USP7(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
16q24.3 microdeletion syndrome kbg syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD11(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
17,20-lyase deficiency Steroid 17-alpha-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 346 →
17q11.2 microduplication syndrome Cervical lymphadenopathy
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 77 →
17q11.2 microduplication syndrome Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 77 →
17q21.31 microdeletion syndrome koolen-de vries syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
17q23.1q23.2 microdeletion syndrome Amelia
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 24 →
17q23.1q23.2 microdeletion syndrome Chromosome 17q23.1-q23.2 duplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 24 →
17q23.1q23.2 microdeletion syndrome Coxopodopatellar syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 24 →
17q23.1q23.2 microdeletion syndrome Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 24 →
19p13.3 microduplication syndrome Malan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NFIX(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
19p13.3 microduplication syndrome marshall-smith syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NFIX(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
1p21.3 microdeletion syndrome Dihydropyrimidine dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DPYD(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 349 →
1p31p32 microdeletion syndrome Chromosome 1p32-p31 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NFIA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
2,8-dihydroxyadenine urolithiasis Adenine phosphoribosyltransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
APRT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
20p12.3 microdeletion syndrome Right ventricle hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
21q22.11q22.12 microdeletion syndrome Braddock-carey syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KIF15(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
3-hydroxyacyl-coa dehydrogenase deficiency obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HADH(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
8q24.3 microdeletion syndrome Intellectual developmental disorder dysmorphic cardiac short stature
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 224 →
8q24.3 microdeletion syndrome Verheij syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 224 →
Aapoai amyloidosis Apolipoprotein a-i amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
APOA1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
ABCA4-related retinopathy Atrophic retina
1 gene
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1 of 1 corroborated by 2+ sources
ABCA4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Abcd syndrome Intestinal aganglionosis
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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