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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
LAMA5-related multisystemic syndrome Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
LAMA5(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Anophthalmia/microphthalmia-esophageal atresia syndrome nance-horan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NHS(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Amblyopia Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A6(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 281 →
Night blindness, congenital stationary NYX-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
NYX(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 151 →
oligodontia-cancer predisposition syndrome Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
AXIN2(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Oocyte maturation defect Partial corpus callosum agenesis
1 gene
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1 of 1 corroborated by 2+ sources
KPNA7(5)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
OPA1-related optic atrophy with or without extraocular features Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
OPA1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
20p12.3 microdeletion syndrome Amblyopia
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
amyotrophic lateral sclerosis type 11 Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
amyotrophic lateral sclerosis type 19 Gallbladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
ERBB4(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
amyotrophic lateral sclerosis type 22 Oocyte maturation defect
1 gene
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1 of 1 corroborated by 2+ sources
TUBA4A(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Anomalous pulmonary venous Polymicrogyria
1 gene
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PSMC3(1)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Amelogenesis imperfecta lethal osteosclerotic bone dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FAM20C(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
lichtenstein-knorr syndrome Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
loeys-dietz syndrome 6 Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
SMAD2(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
meester-loeys syndrome Spondyloepimetaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
BGN(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
CCND2(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
WDR62(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Complex partial epilepsy Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
SCN3A(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Congenital left-sided heart lesions Mucosulfatidosis
1 gene
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1 of 1 corroborated by 2+ sources
SUMF1(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Congenital left-sided heart lesions spermatogenic failure 19
1 gene
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1 of 1 corroborated by 2+ sources
CFAP43(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Congenital left-sided heart lesions Paris-trousseau thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 309 →
Congenital left-sided heart lesions Peripheral primitive neuroectodermal tumor
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 309 →
bleeding disorder, platelet-type, 21 Congenital left-sided heart lesions
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 309 →

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