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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
Carbamoyl phosphate synthetase deficiency Congenital facial anomaly
1 gene
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CAD(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 168 →
Biliary tract neoplasms Cardiofacial dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
PRKACB(5)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 85 →
Cartilage-hair hypoplasia Metaphyseal dysplasia
1 gene
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CCDC107(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cataract-multisystem syndrome X-linked dyskeratosis congenita
1 gene
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1 of 1 corroborated by 2+ sources
DKC1(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 64 →
Myoclonic epilepsy with ragged red fibers Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IL1B(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Neuropathic spinal arthropathy
1 gene
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KAT6B(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Congenital palmoplantar and perioral keratoderma of olmsted Olmsted syndrome, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(5)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 332 →
Desmoid tumor Osteopathia striata with cranial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Panuveitis Thrombotic microangiopathy
1 gene
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CFH(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 107 →
Atypical hemolytic uremic syndrome Panuveitis
1 gene
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1 of 1 corroborated by 2+ sources
CFH(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 107 →
11p11.2 deletion syndrome Parietal foramina
1 gene
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1 of 1 corroborated by 2+ sources
ALX4(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 93 →
Parietal foramina Potocki-shaffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALX4(7)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 93 →
Arteriovenous malformations Parkes weber syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RASA1(5)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 40 →
Partial agenesis of corpus callosum Triphalangeal thumb-polysyndactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SHH(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 232 →
Common arterial trunk with aortic dominance Partial pancreatic agenesis
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Pilosebaceous disorder White sutton syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLI3(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 142 →
Pituitary gigantism Vipoma
1 gene
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1 of 1 corroborated by 2+ sources
MEN1(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Hyper-immunoglobulin e syndrome platelet-type bleeding disorder 16
1 gene
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1 of 1 corroborated by 2+ sources
ITGB3(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cervical dysplasia Portal vein thrombosis
1 gene
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MTHFR(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 204 →
Mitral valve disease Portal vein thrombosis
1 gene
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MTHFR(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Potocki-lupski syndrome Smith-magenis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAI1(8)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 347 →
Eye pain Pancreatic diseases
1 gene
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POMC(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 376 →
Pancreatic diseases Rhabdomyoma
1 gene
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POMC(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 376 →
Pancreatic diseases Sacroiliitis
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 376 →
Diabetes microvascular complications Paraneoplastic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EPO(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 305 →

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