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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
Congenital cardiovascular anomaly severe combined immunodeficiency due to CARD11 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CARD11(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 327 →
Congenital cardiovascular anomaly Fanconi anemia complementation group C
1 gene
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1 of 1 corroborated by 2+ sources
FANCC(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 327 →
Congenital cleft hand Klippel-trenaunay syndrome
1 gene
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DLX5(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital factor xii deficiency Hereditary angioedema
1 gene
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1 of 1 corroborated by 2+ sources
F12(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital glaucoma CYP1B1-related glaucoma with or without anterior segment dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
CYP1B1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Bockenheimer syndrome Congenital glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TEK(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital glaucoma Mucocutaneous venous malformations
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital glucokinase-related hyperinsulinism Prediabetes
1 gene
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1 of 1 corroborated by 2+ sources
GCK(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital high-molecular-weight kininogen deficiency Extravasation of diagnostic and therapeutic materials
1 gene
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1 of 1 corroborated by 2+ sources
KNG1(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 250 →
Congenital high-molecular-weight kininogen deficiency Hereditary angioedema
1 gene
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1 of 1 corroborated by 2+ sources
KNG1(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 250 →
Epilepsy with myoclonic atonic seizures familial hemiplegic migraine
1 gene
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1 of 1 corroborated by 2+ sources
SCN1A(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Chromosome 17q23.1-q23.2 deletion syndrome Epilepsy with myoclonic atonic seizures
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 124 →
Epilepsy with myoclonic atonic seizures GLUT1 deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 124 →
Epilepsy with myoclonic absence Epilepsy with myoclonic atonic seizures
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 124 →
Epilepsy with myoclonic atonic seizures Intellectual developmental disorder seizures epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
AP2M1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 124 →
Extravasation of diagnostic and therapeutic materials Hyperesthesia
1 gene
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KNG1(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 250 →
Dacryocystitis Extravasation of diagnostic and therapeutic materials
1 gene
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1 of 1 corroborated by 2+ sources
IL1RN(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Exudative retinopathy FZD4-related exudative vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
FZD4(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 288 →
Exudative retinopathy RCBTB1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RCBTB1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 288 →
Astigmatism EYS-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
EYS(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Factor xii deficiency Hereditary angioedema
1 gene
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1 of 1 corroborated by 2+ sources
F12(7)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Fahr's disease Myeloproliferative disease, unclassifiable
1 gene
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1 of 1 corroborated by 2+ sources
PDGFRB(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Familial temporal lobe epilepsy Sacroiliac arthritis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Familial temporal lobe epilepsy Sacroiliac joint synovitis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
FAS-related autoimmune lymphoproliferative immune disorder Uveomeningoencephalitic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAS(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —

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