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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 erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Diffuse palmoplantar keratoderma
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital erythropoietic porphyria Thrombocytopenia with dyserythropoietic anemia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Congenital erythropoietic porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Congenital erythropoietic porphyria GATA1-Related X-Linked Cytopenia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Congenital external auditory canal atresia Congenital vertical talus
1 gene
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1 of 1 corroborated by 2+ sources
TSHZ1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital factor ii deficiency Hemophilia b
1 gene
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1 of 1 corroborated by 2+ sources
F2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 388 →
Congenital factor v deficiency Factor v deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F5(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 37 →
Congenital folate absorption defect Hereditary folate malabsorption
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 411 →
Congenital glucose-galactose malabsorption Renal glycosuria
1 gene
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1 of 1 corroborated by 2+ sources
SLC5A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
congenital heart defects, multiple types, 2 Stress urinary incontinence
1 gene
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1 of 1 corroborated by 2+ sources
TAB2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 188 →
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Perisylvian polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 381 →
Congenital hernia of foramen of bochdalek Visual system disorder
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 146 →
Congenital hypoplasia of aortic arch Cystathionine beta-synthase deficiency
1 gene
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PKHD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 157 →
Congenital hypoplasia of femur joubert syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital hypoplasia of femur MORM syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital hypoplastic anemia developmental and epileptic encephalopathy, 50
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 168 →
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Elsahy-waters syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ELOVL4(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Congenital short bowel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Congenital isolated growth hormone deficiency Isolated somatotropin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 82 →
Congenital keratoglobus Microspherophakia
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital keratoglobus glaucoma 3, primary congenital, d
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital lipoid adrenal hyperplasia Toe syndactyly-telecanthus-anogenital and renal malformations syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STAR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital malformation syndromes predominantly involving limbs Waardenburg anophthalmia syndrome
1 gene
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SMOC1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 249 →
Congenital mesoblastic nephroma thrombocytopenia 5
1 gene
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1 of 1 corroborated by 2+ sources
ETV6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital methemoglobinemia Dihydrolipoamide dehydrogenase deficiency
1 gene
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CYB5R3(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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