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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
Dravet syndrome Female restricted epilepsy with intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PCDH19(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 47 →
obsolete early infantile epileptic encephalopathy Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GAD1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Continuous spike and wave during sleep syndrome Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 365 →
Focal epilepsy with speech disorder and impaired intellectual development Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 365 →
Familial focal epilepsy with variable foci Trident hand
1 gene
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NPR2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
myopathy caused by variation in POMT1 Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
POMT1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
microcephaly, seizures, and developmental delay Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
PNKP(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Early onset vitamin b6 dependent epilepsy Neonatal convulsions
1 gene
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1 of 1 corroborated by 2+ sources
ALDH7A1(2)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. —
Antithrombin deficiency Myoclonic epilepsy with ragged red fibers
1 gene
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1 of 1 corroborated by 2+ sources
IL1B(2)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. —
Childhood-onset epilepsy syndrome Early onset epilepsy with developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ATP6V0C(4)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. —
Epilepsy of infancy with migrating focal seizures neonatal-onset developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Nocturnal frontal lobe epilepsy primary ciliary dyskinesia 28
1 gene
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1 of 1 corroborated by 2+ sources
SPAG1(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Epilepsy of infancy with migrating focal seizures neonatal encephalopathy with non-epileptic myoclonus
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Progressive myoclonic epilepsy with renal failure progressive myoclonus epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(5)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 329 →
Myoclonus-renal failure syndrome progressive myoclonus epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SCARB2(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 329 →
Childhood absence epilepsy Nasal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
NPY(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Hypertensive heart disease Progressive myoclonic epilepsy with intracellular inclusions
1 gene
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1 of 1 corroborated by 2+ sources
PRDM8(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Childhood absence epilepsy Minor epilepsy
1 gene
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NPY(1)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Atypical absence epilepsy Childhood absence epilepsy
1 gene
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NPY(1)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Childhood absence epilepsy Conn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1H(4)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 47 →
Complex partial epilepsy Perisylvian syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SCN3A(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Craniodiaphyseal dysplasia Juvenile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CILK1(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Early-onset epilepsy-intellectual disability-brain anomalies syndrome Hyperphosphatasia with intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGG(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Focal epilepsy Roifman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CLASP1(2)
0.143 0.333 7.79e-4 1.41e-3 ✓ sig. —
Benign myoclonic epilepsy Cri-du-chat syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CTNND2(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —

Showing 25 of 420 matching pairs, sorted by significance (ascending). Click a column header to sort.