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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
Cardiac valvular dysplasia COL1A2-related osteogenesis imperfecta
1 gene
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1 of 1 corroborated by 2+ sources
COL1A2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Colchicine resistance Cryoglobulinemia
1 gene
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1 of 1 corroborated by 2+ sources
ABCB1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cold autoinflammatory syndrome Infantile neurological cutaneous and articular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NLRP3(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 192 →
Cold autoinflammatory syndrome Congenital factor xii deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F12(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Adenomatous polyposis Colorectal adenomatous polyposis
1 gene
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1 of 1 corroborated by 2+ sources
MUTYH(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 41 →
Cardiac valvular dysplasia Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital bile acid synthesis defect Oxysterol accumulation disorder
1 gene
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1 of 1 corroborated by 2+ sources
CYP7B1(6)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital chromosomal disease Tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POT1(6)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Digitotalar dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital finger flexion contractures Digitotalar dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
TNNI2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 202 →
Congenital generalized lipodystrophy Intellectual developmental disorder speech ambulation
1 gene
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1 of 1 corroborated by 2+ sources
ACTL6B(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 71 →
Congenital glucokinase-related hyperinsulinism Congenital hyperinsulinism
1 gene
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1 of 1 corroborated by 2+ sources
GCK(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital hearing disorder SF3B4-related acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
SF3B4(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital hearing disorder long qt syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
KCNE1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital hernia of foramen of bochdalek Eyelid disease
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 146 →
Congenital hypothyroidism without goiter Interrupted aortic arch
1 gene
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NKX2-5(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital insensitivity to pain hereditary sensory and autonomic neuropathy type 7
1 gene
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1 of 1 corroborated by 2+ sources
SCN11A(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 164 →
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Digitotalar dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital malformation syndromes associated with short stature Hairy cell leukemia
1 gene
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1 of 1 corroborated by 2+ sources
BRAF(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital malformation syndromes associated with short stature Osteochondroma
1 gene
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1 of 1 corroborated by 2+ sources
PTPN11(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 42 →
Congenital methemoglobinemia Methemoglobinemia
1 gene
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1 of 1 corroborated by 2+ sources
CYB5R3(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Erythropoietic protoporphyria X-linked erythropoietic protoporphyria
1 gene
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1 of 1 corroborated by 2+ sources
ALAS2(7)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 158 →
Diabetes microvascular complications Esophageal stenosis
1 gene
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1 of 1 corroborated by 2+ sources
SOD2(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 305 →
Exanthema Hyper-igd syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MVK(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Carbamazepine hypersensitivity Exanthema
1 gene
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1 of 1 corroborated by 2+ sources
HLA-B(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —

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