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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
Frontotemporal dementia hereditary spastic paraplegia 8
1 gene
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1 of 1 corroborated by 2+ sources
WASHC5(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Aortic stenosis HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HMGB1(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
B-cell acute lymphoblastic leukemia hyper-ige syndrome 6, autosomal dominant, with recurrent infections
1 gene
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1 of 1 corroborated by 2+ sources
STAT6(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
hypercholesterolemia, familial, 4 Oropharyngeal cancer
1 gene
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1 of 1 corroborated by 2+ sources
LDLRAP1(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
ARHGAP29-related non-syndromic orofacial cleft Cleft palate
1 gene
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1 of 1 corroborated by 2+ sources
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Asplenia Frontotemporal dementia
1 gene
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1 of 1 corroborated by 2+ sources
RPSA(3)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome B-cell acute lymphoblastic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
CEBPE(3)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Axonal neuropathy Congenital cataract
1 gene
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1 of 1 corroborated by 2+ sources
GBF1(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Bardet-biedl syndrome bardet-biedl syndrome 11
1 gene
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1 of 1 corroborated by 2+ sources
TRIM32(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome BBS1-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS1(8)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Bardet-biedl syndrome BBS10-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS10(8)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome BBS12-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS12(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Bardet-biedl syndrome BBS2-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS2(8)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Bardet-biedl syndrome BBS4-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS4(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Bardet-biedl syndrome BBS5-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS5(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome BBS7-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS7(6)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Bardet-biedl syndrome BBS9-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
BBS9(6)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
BBS9-related ciliopathy Craniosynostosis
1 gene
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1 of 1 corroborated by 2+ sources
BBS9(3)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Craniosynostosis lethal occipital encephalocele-skeletal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CYP26B1(2)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome LZTFL1-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
LZTFL1(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Craniosynostosis MEGF8-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(2)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome MKKS-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
MKKS(8)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Craniosynostosis craniosynostosis 2
1 gene
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1 of 1 corroborated by 2+ sources
MSX2(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Craniosynostosis craniosynostosis 6
1 gene
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1 of 1 corroborated by 2+ sources
ZIC1(6)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Craniosynostosis craniosynostosis and dental anomalies
1 gene
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1 of 1 corroborated by 2+ sources
IL11RA(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 63 →

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