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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
Axenfeld-rieger syndrome IFT140-related recessive ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
IFT140(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Carotid artery thrombosis inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cadasil inherited thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH3(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cold paroxysmal hemoglobinuria Intellectual developmental disorder seizures dysmorphic skeletal
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Hemoglobinuria paroxysmal Intellectual developmental disorder seizures dysmorphic skeletal
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Intellectual developmental disorder seizures dysmorphic skeletal Paroxysmal nocturnal hemoglobinuria
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
intellectual disability, autosomal recessive 61 Stuve-wiedemann syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RUSC2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
interstitial lung disease due to ABCA3 deficiency Pulmonary surfactant metabolism dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
ABCA3(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Intestinal polyps Urinary bladder neck obstruction
1 gene
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PTGS2(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Brain tumor-polyposis syndrome Intestinal polyps
1 gene
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1 of 1 corroborated by 2+ sources
APC(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 41 →
Familial adenomatous polyposis Intestinal polyps
1 gene
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1 of 1 corroborated by 2+ sources
APC(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 41 →
gastric adenocarcinoma and proximal polyposis of the stomach Intestinal polyps
1 gene
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1 of 1 corroborated by 2+ sources
APC(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 41 →
IRF6-related condition Van der woude syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IRF6(8)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital cystic eyeball isolated microphthalmia 6
1 gene
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1 of 1 corroborated by 2+ sources
PRSS56(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 56 →
Isolated somatotropin deficiency Pituitary neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 82 →
joubert syndrome 1 Penile disease
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
joubert syndrome 17 Monomelic amyotrophy
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Laryngo-onycho-cutaneous syndrome Skin ulcer
1 gene
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1 of 1 corroborated by 2+ sources
LAMA3(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 330 →
Cafe-au-lait spots legius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPRED1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 77 →
Bilateral vestibulopathy Hereditary sensory and motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 190 →
Bile duct disorder PRKAG2-related cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRKAG2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 318 →
Blomstrand lethal chondrodysplasia Rickets
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Bothnia retinal dystrophy Retinitis punctata albescens
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(6)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Brachial plexus neuritis Monomelic amyotrophy
1 gene
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1 of 1 corroborated by 2+ sources
SEPTIN9(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Brain-lung-thyroid syndrome Choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-1(6)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —

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