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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
Benign infantile epilepsy Epilepsy of infancy with migrating focal seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(3)
0.143 0.333 4.55e-6 2.38e-5 ✓ sig. —
Benign infantile epilepsy Malignant migrating partial seizures of infancy
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(2)
0.143 0.333 4.55e-6 2.38e-5 ✓ sig. —
Generalized epilepsy Myoclonic epilepsy
4 genes
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3 of 4 corroborated by 2+ sources
GABRA2(1), JRK(3), SCN1A(3), CACNB4(3)
0.047 0.167 2.88e-6 1.56e-5 ✓ sig. —
Mitochondrial myopathy Myoclonic epilepsy with ragged red fibers
2 genes
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2 of 2 corroborated by 2+ sources
IL1A(2), IL1B(2)
0.118 0.667 2.66e-6 1.44e-5 ✓ sig. Cluster 32 →
Myoclonic epilepsy with ragged red fibers Progressive external ophthalmoplegia
2 genes
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2 of 2 corroborated by 2+ sources
IL1A(2), IL1B(2)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 32 →
Benign neonatal epilepsy Epilepsy of infancy with migrating focal seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(4), SCN2A(3)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Benign neonatal epilepsy Malignant migrating partial seizures of infancy
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
progressive myoclonus epilepsy Unverricht-lundborg syndrome
2 genes
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2 of 2 corroborated by 2+ sources
SCARB2(3), PRICKLE1(3)
0.182 0.667 9.11e-7 5.37e-6 ✓ sig. Cluster 329 →
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Pontocerebellar hypoplasia
4 genes
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4 of 4 corroborated by 2+ sources
ATAD3A(4), TSEN54(7), SEPSECS(5), RARS2(6)
0.063 0.129 7.57e-7 4.54e-6 ✓ sig. —
Adult myoclonic epilepsy Benign adult familial myoclonic epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
ADRA2B(2), SAMD12(2)
0.200 0.667 7.08e-7 4.27e-6 ✓ sig. Cluster 357 →
Early onset vitamin b6 dependent epilepsy Pyridoxine dependent epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
ALDH7A1(4), PLPBP(4)
0.200 0.667 7.08e-7 4.27e-6 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Macrogyria
4 genes
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CASK(1), SEPSECS(1), KIAA0586(1), TUBA1A(1)
0.065 0.138 5.73e-7 3.50e-6 ✓ sig. Cluster 110 →
Ataxia Idiopathic generalized epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
GABRA1(3), CACNB4(2), SLC2A1(2)
0.097 0.250 4.77e-7 2.97e-6 ✓ sig. Cluster 47 →
Benign adult familial myoclonic epilepsy Benign myoclonic epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
ADRA2B(2), SAMD12(3)
0.250 0.667 3.80e-7 2.39e-6 ✓ sig. Cluster 357 →
Familial temporal lobe epilepsy Temporal lobe epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
CPA6(5), RELN(4), GAL(4)
0.079 0.429 3.12e-7 2.00e-6 ✓ sig. —
Benign neonatal-infantile seizures Epilepsy of infancy with migrating focal seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(3)
0.200 1.000 3.04e-7 1.95e-6 ✓ sig. —
familial sleep-related hypermotor epilepsy Frontal lobe epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
CHRNB2(3), CHRNA4(3)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 273 →
Generalized epilepsy with febrile seizures plus Lennox-gastaut syndrome
3 genes
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3 of 3 corroborated by 2+ sources
GABRG2(3), SCN1A(8), SCN2A(2)
0.115 0.250 2.01e-7 1.34e-6 ✓ sig. Cluster 47 →
Adult myoclonic epilepsy Myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
RAPGEF2(3), TNRC6A(3), SAMD12(3)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. —
Familial adult myoclonic epilepsy Myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
RAPGEF2(5), TNRC6A(5), SAMD12(5)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. —
Familial focal epilepsy with variable foci Progressive myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
DEPDC5(5), NPRL2(5), NPRL3(5)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. —
Dravet syndrome Myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
GABRA1(2), SCN1A(6), STXBP1(3)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. Cluster 47 →
Generalized epilepsy Lennox-gastaut syndrome
4 genes
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3 of 4 corroborated by 2+ sources
CACNA1A(2), CUX2(3), SCN1A(4), POLG(1)
0.054 0.333 1.40e-7 9.58e-7 ✓ sig. —
Benign infantile epilepsy Benign neonatal-infantile seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(2)
0.286 1.000 1.27e-7 8.71e-7 ✓ sig. Cluster 165 →
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Lissencephaly
5 genes
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2 of 5 corroborated by 2+ sources
MACF1(5), CASK(1), SEPSECS(1), KIAA0586(1), TUBA1A(5)
0.061 0.139 1.03e-7 7.19e-7 ✓ sig. Cluster 110 →

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