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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Optic atrophy optic atrophy 3
1 gene
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1 of 1 corroborated by 2+ sources
OPA3(7)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy optic atrophy 9
1 gene
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1 of 1 corroborated by 2+ sources
ACO2(7)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy ornithine aminotransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
OAT(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →
Childhood-onset dystonia Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
MECR(4)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
MECR(5)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
CNGA1-related retinopathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGA1(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →
CNGB1-related retinopathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGB1(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Abri amyloidosis Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ITM2B(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
IDH3B-related retinopathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
IDH3B(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →
Optic atrophy TSPAN12-related exudative vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
TSPAN12(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy Usher syndrome type 3
1 gene
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1 of 1 corroborated by 2+ sources
CLRN1(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Bosch-boonstra-schaaf optic atrophy syndrome Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
NR2F1(6)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
CACNA2D4-related retinopathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Familial danish dementia Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ITM2B(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
FDXR-related optic atrophy mitochondrial dysfunction syndrome Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
FDXR(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Goldmann-favre syndrome Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(3)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
GPR179-related retinopathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
GPR179(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
GRM6-related retinopathy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
GRM6(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy PCARE-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PCARE(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →
Optic atrophy PDE6C-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6C(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy PHARC syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ABHD12(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →
Optic atrophy phytanoyl-CoA hydroxylase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PHYH(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy Progressive myoclonic epilepsy with renal failure
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(4)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Optic atrophy RAB28-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RAB28(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →
Optic atrophy retinitis pigmentosa 65
1 gene
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1 of 1 corroborated by 2+ sources
CDHR1(2)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. Cluster 7 →

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