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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
Abnormal muscle physiology Muscle cramps
1 gene
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POC5(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Genitopatellar syndrome Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(6)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 290 →
Colpocephaly Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(4)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 290 →
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(5)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 290 →
COL4A1-related disorder Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(5)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 290 →
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Porencephaly 1
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(4)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 290 →
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps KAT6B-related disorders
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Ohdo syndrome, sbbys variant
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Sbbyss syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Simpson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Muscle cramps Retinal dystrophy
1 gene
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POC5(1)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Lipodystrophy Muscle cramps
1 gene
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POC5(1)
0.045 1.000 1.36e-3 1.97e-3 ✓ sig. —
Muscle cramps Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
POC5(2)
0.005 1.000 1.22e-2 1.35e-2 ✓ sig. —
Anorexia nervosa Muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
POC5(2)
0.004 1.000 1.61e-2 1.75e-2 ✓ sig. —

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