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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
Leber hereditary optic neuropathy Melas syndrome
15 genes
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14 of 15 corroborated by 2+ sources
IL1A(2), IL1B(2), ND1(3), ND2(3), SOD2(2), ATP6(3), ND6(3), COX3(3), COX1(3), ATP8(1), ND5(3), COX2(2) +3 more
0.469 0.789 1.25e-40 2.96e-39 ✓ sig. Cluster 12 →
Leber hereditary optic neuropathy ROD-CONE DYSTROPHY
14 genes
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12 of 14 corroborated by 2+ sources
LRAT(2), ND1(3), ND2(3), RP1(2), RPE65(2), ATP6(3), COX3(3), COX1(2), ATP8(1), ND5(3), COX2(1), ND3(2) +2 more
0.280 0.519 1.44e-31 2.91e-30 ✓ sig. Cluster 12 →
Leber hereditary optic neuropathy Neuropathy, ataxia, and retinitis pigmentosa
11 genes
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9 of 11 corroborated by 2+ sources
ND1(3), ND2(3), ATP6(3), COX3(3), COX1(2), ATP8(1), ND5(3), COX2(1), ND3(2), ND4(3), ND4L(3)
0.367 0.846 3.31e-30 6.50e-29 ✓ sig. Cluster 12 →
Cleft palate and bilateral cleft lip Leber hereditary optic neuropathy
11 genes
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9 of 11 corroborated by 2+ sources
ND1(3), ND2(3), ATP6(3), COX3(3), COX1(2), ATP8(1), ND5(3), COX2(1), ND3(2), ND4(3), ND4L(3)
0.355 0.786 1.54e-29 2.99e-28 ✓ sig. Cluster 12 →
Leber hereditary optic neuropathy Postaxial polydactyly
11 genes
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9 of 11 corroborated by 2+ sources
ND1(3), ND2(3), ATP6(3), COX3(3), COX1(2), ATP8(1), ND5(3), COX2(1), ND3(2), ND4(3), ND4L(3)
0.275 0.478 5.68e-26 9.94e-25 ✓ sig. Cluster 12 →
Leber hereditary optic neuropathy Mitochondrial complex deficiency
14 genes
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14 of 14 corroborated by 2+ sources
ND1(3), ND2(3), NDUFS2(6), ATP6(3), COX3(3), COX1(2), ATP8(2), ND5(3), COX2(2), ND3(2), ND4(3), ND4L(3) +2 more
0.105 0.519 2.10e-23 3.41e-22 ✓ sig. —
Developmental delay Leber hereditary optic neuropathy
5 genes
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5 of 5 corroborated by 2+ sources
ND2(3), COX3(3), ND5(3), ND4(3), CYTB(3)
0.050 0.185 2.11e-7 1.41e-6 ✓ sig. —
Hereditary optic neuropathy Optic atrophy 15
1 gene
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1 of 1 corroborated by 2+ sources
MCAT(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Leber-like hereditary optic neuropathy, autosomal recessive 1 Williams syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNAJC30(4)
0.040 1.000 1.55e-3 2.19e-3 ✓ sig. Cluster 639 →
Cardiomyopathy, infantile histiocytoid Leber hereditary optic neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
CYTB(3)
0.036 1.000 1.74e-3 2.42e-3 ✓ sig. —
Leber hereditary optic neuropathy Leber optic atrophy and dystonia
1 gene
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1 of 1 corroborated by 2+ sources
ND3(2)
0.036 1.000 1.74e-3 2.42e-3 ✓ sig. Cluster 12 →
Leber hereditary optic neuropathy Leber-like hereditary optic neuropathy, autosomal recessive 1
1 gene
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1 of 1 corroborated by 2+ sources
DNAJC30(8)
0.036 1.000 1.74e-3 2.42e-3 ✓ sig. —
Hereditary optic neuropathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
MCAT(7)
0.005 1.000 1.22e-2 1.35e-2 ✓ sig. —
Leber-like hereditary optic neuropathy, autosomal recessive 1 Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
DNAJC30(3)
0.005 1.000 1.22e-2 1.35e-2 ✓ sig. —
Hereditary optic neuropathy Schizophrenia
1 gene
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1 of 1 corroborated by 2+ sources
MCAT(2)
0.000 1.000 1.64e-1 1.64e-1 —

Showing 15 of 15 matching pairs, sorted by significance (ascending). Click a column header to sort.