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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
PDE6A-related retinopathy Usher syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PDE6A(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 26 →
perrault syndrome 2 Usher syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HARS2(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
1 gene
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1 of 1 corroborated by 2+ sources
ARPC1B(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Macular dystrophy RDH12-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RDH12(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Macular dystrophy RDH12-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RDH12(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Nasopharyngeal neoplasms pyruvate dehydrogenase E3 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DLD(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Panhypopituitarism
1 gene
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1 of 1 corroborated by 2+ sources
CHMP2B(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
GPR143-related foveal hypoplasia Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
GPR143(6)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Panhypopituitarism Winkelman bethge pfeiffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LHX3(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Nystagmus X-linked intellectual disability-cerebellar hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OPHN1(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Hurthle cell thyroid cancer Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
NDUFA13(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Colonic disease Pituitary dwarfism
1 gene
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GHR(1)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Leukemia
1 gene
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1 of 1 corroborated by 2+ sources
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
ATF6-related retinopathy Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
ATF6(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Cerebellar cortical atrophy Nystagmus
1 gene
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MYO5A(1)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
CNGB3-related retinopathy Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
CNGB3(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Leukemia SYNCRIP-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SYNCRIP(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. Cluster 53 →
Boudin-mortier syndrome Marfan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NPR3(5)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. Cluster 12 →
mucopolysaccharidosis type 3A Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
SGSH(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Dna ligase iv deficiency Nasopharyngeal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
LIG4(4)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Early-onset obesity-hyperphagia-severe developmental delay syndrome Nasopharyngeal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
NTRK2(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
intellectual disability, autosomal dominant 42 Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
GNB1(2)
0.023 1.000 2.79e-3 3.75e-3 ✓ sig. —
Bryant-li-bhoj neurodevelopmental syndrome Intellectual developmental disorder
2 genes
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2 of 2 corroborated by 2+ sources
H3-3B(4), H3-3A(4)
0.002 1.000 2.76e-3 3.70e-3 ✓ sig. —
Carotid atherosclerosis Mandibulofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
EDNRA(6)
0.077 0.167 2.72e-3 3.66e-3 ✓ sig. —
Eyelid disease Peritonitis
1 gene
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1 of 1 corroborated by 2+ sources
IFNG(2)
0.077 0.167 2.72e-3 3.66e-3 ✓ sig. —

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