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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
Alpha-mannosidosis Craniosynostosis
1 gene
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1 of 1 corroborated by 2+ sources
MAN2B1(4)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Alstrom syndrome Bardet-biedl syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALMS1(3)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome Heart defect, tongue hamartoma and polysyndactyly
1 gene
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1 of 1 corroborated by 2+ sources
WDPCP(7)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Craniosynostosis Nasodigitoacoustic syndrome
1 gene
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GPC4(1)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome nephronophthisis 4
1 gene
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1 of 1 corroborated by 2+ sources
NPHP4(2)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 8 →
Craniosynostosis oligodontia-cancer predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AXIN2(3)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 63 →
Craniosynostosis Opitz g/bbb syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPECC1L(2)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome Sarcotubular myopathy
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. —
Craniosynostosis Trident hand
1 gene
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NPR2(1)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Bardet-biedl syndrome TTC8-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTC8(8)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Craniosynostosis Turricephaly
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 Weiss-kruszka syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZNF462(6)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. Cluster 63 →
Dermatosparaxis ehlers-danlos syndrome Heart valve prolapse
1 gene
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1 of 1 corroborated by 2+ sources
0.032 0.500 3.76e-3 4.81e-3 ✓ sig. —
Congenital myasthenic syndrome Intellectual developmental disorder autism dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
CHD8(5)
0.032 0.500 3.76e-3 4.81e-3 ✓ sig. —
Duchenne muscular dystrophy Intellectual developmental disorder seizures extrapyramidal
1 gene
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1 of 1 corroborated by 2+ sources
SATB1(2)
0.032 0.500 3.76e-3 4.81e-3 ✓ sig. —
Cochlear diseases Mitochondrial dna depletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MPV17(4)
0.032 0.500 3.76e-3 4.81e-3 ✓ sig. —
Peeling skin syndrome with leukonychia and acral punctate keratoses Vasculitis
1 gene
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1 of 1 corroborated by 2+ sources
CAST(6)
0.032 0.500 3.76e-3 4.81e-3 ✓ sig. —
Hepatomegaly Prolidase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PEPD(3)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
immunodeficiency 126, susceptibility to Ocular sarcoidosis
1 gene
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1 of 1 corroborated by 2+ sources
PTCRA(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 1 →
Joubert syndrome joubert syndrome 21
1 gene
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1 of 1 corroborated by 2+ sources
CSPP1(6)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 8 →
Joubert syndrome joubert syndrome 24
1 gene
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1 of 1 corroborated by 2+ sources
TCTN2(6)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 8 →
Joubert syndrome joubert syndrome 30
1 gene
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1 of 1 corroborated by 2+ sources
ARMC9(6)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 8 →
Congenital right-sided heart lesions Ocular sarcoidosis
1 gene
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SLC27A6(1)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Coralliform cataract Hepatomegaly
1 gene
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1 of 1 corroborated by 2+ sources
CRYGD(4)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Joubert syndrome Ziegler-huang syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC30A7(3)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —

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