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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
1p36 deletion syndrome Schwartz-jampel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HSPG2(6)
0.063 0.333 2.53e-3 3.45e-3 ✓ sig. Cluster 350 →
1p36 deletion syndrome Shprintzen-goldberg syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SKI(6)
0.063 0.333 2.53e-3 3.45e-3 ✓ sig. —
Cholesterol ester transfer protein deficiency Malunion fracture
1 gene
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1 of 1 corroborated by 2+ sources
SCARB1(2)
0.063 0.333 2.53e-3 3.45e-3 ✓ sig. —
Constitutional mismatch repair deficiency Intellectual developmental disorder dysmorphic behavioral
1 gene
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1 of 1 corroborated by 2+ sources
MSH6(7)
0.063 0.333 2.53e-3 3.45e-3 ✓ sig. Cluster 166 →
Intellectual developmental disorder dysmorphic behavioral Intracranial hemorrhage
1 gene
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1 of 1 corroborated by 2+ sources
MSH6(2)
0.063 0.333 2.53e-3 3.45e-3 ✓ sig. —
immunodeficiency 60 Nasal polyp
1 gene
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1 of 1 corroborated by 2+ sources
BACH2(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Bladder calculus inherited pseudoxanthoma elasticum
1 gene
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1 of 1 corroborated by 2+ sources
ABCC6(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
isolated sulfite oxidase deficiency Nasal polyp
1 gene
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1 of 1 corroborated by 2+ sources
SUOX(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
joubert syndrome 17 Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Bladder calculus koolen-de vries syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
leber congenital amaurosis 15 Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
TULP1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
leukoencephalopathy with vanishing white matter 2 Osteogenesis imperfecta
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B2(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
CCND2(3)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
MEGF8-related Carpenter syndrome Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Metaphyseal chondrodysplasia with retinitis pigmentosa Osteonecrosis
1 gene
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1 of 1 corroborated by 2+ sources
CWC27(5)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. Cluster 373 →
Polydactyly TTC8-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTC8(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Fanconi anemia Vacterl-hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FANCB(7)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Osteogenesis imperfecta X-linked osteoporosis
1 gene
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1 of 1 corroborated by 2+ sources
PLS3(3)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Brachydactyly-short stature-retinits pigmentosa syndrome Osteonecrosis
1 gene
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1 of 1 corroborated by 2+ sources
CWC27(3)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. Cluster 373 →
Charcot-Marie-Tooth disease axonal type 2P Peroneal muscle atrophy
1 gene
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1 of 1 corroborated by 2+ sources
LRSAM1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. Cluster 15 →
Charcot-Marie-Tooth disease type 4B3 Peroneal muscle atrophy
1 gene
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1 of 1 corroborated by 2+ sources
SBF1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. Cluster 15 →
Bladder calculus Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
17q21.31 microdeletion syndrome Bladder calculus
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Acheiropody Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
LMBR1(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Patterson stevenson fontaine syndrome Polydactyly
1 gene
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LMBR1(1)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —

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