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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
Bent bone dysplasia Campomelic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 310 →
Bent bone dysplasia Camptomelic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 310 →
Bent bone dysplasia Cooks syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 310 →
Bent bone dysplasia isolated Pierre-Robin syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 310 →
Ankylosis Bent bone dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Beta-hexosaminidase a deficiency Tay-sachs disease
1 gene
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1 of 1 corroborated by 2+ sources
HEXA(7)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Beta-hydroxyisobutyryl-coa deacylase deficiency X-linked hereditary sensory and autonomic neuropathy with deafness
1 gene
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1 of 1 corroborated by 2+ sources
AIFM1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Bietti crystalline corneoretinal dystrophy Congenital prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Bietti crystalline corneoretinal dystrophy inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
ADGRG1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 267 →
Myoclonus-renal failure syndrome Unverricht-lundborg syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SCARB2(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 329 →
Hyperkalemic periodic paralysis Myotonia congenita
1 gene
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1 of 1 corroborated by 2+ sources
CLCN1(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Neonatal convulsions Sensorineural hearing loss thrombocytopenia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Neonatal convulsions progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Neonatal convulsions Schilder disease
1 gene
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1 of 1 corroborated by 2+ sources
POLG(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 97 →
Neovascular inflammatory vitreoretinopathy Vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CAPN5(7)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 11 →
Nephropathic cystinosis Ocular cystinosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNS(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Neurofibrosarcoma Schimmelpenning-feuerstein-mims syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NRAS(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 18 →
neurometabolic disorder due to serine deficiency Phosphoserine phosphatase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSPH(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Neuropathic spinal arthropathy Rupture, spontaneous
1 gene
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1 of 1 corroborated by 2+ sources
COL5A1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Neuropathic spinal arthropathy Simpson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Mandibuloacral dysostosis obsolete lethal restrictive dermopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 65 →
obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis Xerocytosis
1 gene
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1 of 1 corroborated by 2+ sources
PIEZO1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Oropharyngeal dysphagia Spinocerebellar ataxia, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ATP2B3(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Osteoglophonic dysplasia Pfeiffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR1(7)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —

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