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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
Combined factor v and factor viii deficiency Hemophilia a
1 gene
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1 of 1 corroborated by 2+ sources
LMAN1(6)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Congenital lamellar cataract Congenital total cataract
1 gene
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HSF4(1)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. Cluster 43 →
Autoimmune neurological syndrome Periapical periodontitis
1 gene
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SLC8A1(1)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Congenital fibrosis of extraocular muscles Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
MCM3AP(5)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Dentinogenesis imperfecta Peripheral pulmonary artery stenosis
1 gene
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DLX3(1)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Hereditary breast cancer PALB2-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
PALB2(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Ectodermal dysplasia Papillon-lefevre syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CTSC(7)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Polydactyly-macrocephaly syndrome Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
MAX(5)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
protein S deficiency Thrombophilia
1 gene
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1 of 1 corroborated by 2+ sources
PROS1(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Aplastic anemia diamond-blackfan anemia 6
1 gene
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1 of 1 corroborated by 2+ sources
RPL5(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Coronary aneurysm Dock2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DOCK2(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 271 →
Dubin-johnson syndrome Gastrointestinal disease
1 gene
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1 of 1 corroborated by 2+ sources
ABCC2(5)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Ectodermal dysplasia ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
EDAR(5)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 117 →
Ectodermal dysplasia ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
1 gene
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1 of 1 corroborated by 2+ sources
KDF1(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 117 →
Ectodermal dysplasia ectodermal dysplasia WNT10A related
1 gene
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1 of 1 corroborated by 2+ sources
WNT10A(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Ectodermal dysplasia EEM syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDH3(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
IL21-related infantile inflammatory bowel disease Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
IL21(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
immunodeficiency 25 Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
CD247(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
immunodeficiency 31b Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
immunodeficiency 63 with lymphoproliferation and autoimmunity Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
IL2RB(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Corneal dystrophy inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Interleukin 6 quantitative trait Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
INTU-related skeletal ciliopathy Orofaciodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INTU(5)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
joubert syndrome 17 Orofaciodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(7)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Azoospermia lamb-shaffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —

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