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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
Distal hereditary motor neuropathy Primary coenzyme q10 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
COQ7(5)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis PDE6A-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6A(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis PRPF31-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRPF31(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Leber congenital amaurosis RD3-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RD3(7)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
cone-rod dystrophy 2 Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
CRX(7)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Congenital external auditory canal atresia Eating disorder
1 gene
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1 of 1 corroborated by 2+ sources
TSHZ1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Congenital finger flexion contractures
1 gene
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TNNI2(1)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
enhanced s-cone syndrome Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Arthrogryposis with neurodevelopmental impairment and seizures
1 gene
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1 of 1 corroborated by 2+ sources
SLC35A3(3)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Axial spondylometaphyseal dysplasia Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
CFAP410(3)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC38A8(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Goldmann-favre syndrome Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(3)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
GRM6-related retinopathy Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
GRM6(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis retinitis pigmentosa 65
1 gene
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1 of 1 corroborated by 2+ sources
CDHR1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Leber congenital amaurosis RP1-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis RP1-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis RP2-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP2(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Schindler disease
1 gene
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1 of 1 corroborated by 2+ sources
NAGA(3)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis snowflake vitreoretinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ13(7)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PCYT1A(4)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita succinic semialdehyde dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ALDH5A1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
AIPL1-related retinopathy Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
AIPL1(7)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Alpha-n-acetylgalactosaminidase deficiency Arthrogryposis multiplex congenita
1 gene
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1 of 1 corroborated by 2+ sources
NAGA(4)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Barrett esophagus Cerebellar ataxia with hearing loss
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Charcot-Marie-Tooth disease, axonal, type 2FF Eating disorder
1 gene
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1 of 1 corroborated by 2+ sources
CADM3(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 69 →

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