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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
Developmental and epileptic encephalopathy Generalized epilepsy
12 genes
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11 of 12 corroborated by 2+ sources
CACNA1A(5), CUX2(6), GABRA2(6), RBFOX1(2), SIK1(6), SZT2(7), SCN1A(8), CACNA2D2(2), GLS(4), GABRG1(2), SLC38A3(6), STX1B(1)
0.044 0.185 1.11e-10 1.10e-9 ✓ sig. —
Benign infantile epilepsy Benign neonatal epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
KCNQ2(4), SCN2A(3), KCNQ3(3)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 165 →
familial sleep-related hypermotor epilepsy Nocturnal frontal lobe epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
CHRNA2(6), CHRNB2(6), CHRNA4(6)
0.300 1.000 1.38e-10 1.35e-9 ✓ sig. Cluster 273 →
Familial temporal lobe epilepsy Lateral temporal lobe epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
RELN(4), LGI1(5), GAL(3)
0.333 0.750 2.30e-10 2.21e-9 ✓ sig. —
Epilepsy with auditory features Familial temporal lobe epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
RELN(5), LGI1(7), MICAL1(5)
0.333 0.750 2.30e-10 2.21e-9 ✓ sig. —
Familial focal epilepsy with variable foci Focal epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
DEPDC5(5), NPRL2(6), NPRL3(5)
0.300 0.750 3.68e-10 3.48e-9 ✓ sig. —
Hyperalgesia Temporal lobe epilepsy
7 genes
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7 of 7 corroborated by 2+ sources
PDYN(2), BDKRB2(2), CNR1(2), TRPV1(2), SLC12A5(2), GAL(3), BDKRB1(2)
0.060 0.212 6.41e-10 5.91e-9 ✓ sig. —
Melas syndrome Myoclonic epilepsy with ragged red fibers
3 genes
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3 of 3 corroborated by 2+ sources
IL1A(2), IL1B(2), ND5(2)
0.158 1.000 1.34e-9 1.20e-8 ✓ sig. Cluster 32 →
Idiopathic generalized epilepsy Myoclonic epilepsy
4 genes
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4 of 4 corroborated by 2+ sources
GABRD(5), GABRA1(4), CACNB4(4), CLCN2(5)
0.121 0.333 2.23e-9 1.94e-8 ✓ sig. Cluster 47 →
Epilepsy of infancy with migrating focal seizures genetic developmental and epileptic encephalopathy
4 genes
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4 of 4 corroborated by 2+ sources
SCN1A(2), SLC12A5(3), PLCB1(2), SLC25A22(2)
0.095 0.444 3.14e-9 2.70e-8 ✓ sig. —
Progressive myoclonic epilepsy Unverricht-lundborg syndrome
3 genes
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3 of 3 corroborated by 2+ sources
SCARB2(6), PRICKLE1(7), CSTB(6)
0.120 1.000 3.33e-9 2.85e-8 ✓ sig. Cluster 329 →
Partial epilepsy Rolandic epilepsy
6 genes
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3 of 6 corroborated by 2+ sources
GRIN2A(3), SCN1A(2), SCN2A(1), DEPDC5(1), KCNT1(2), SPTAN1(1)
0.070 0.136 3.76e-9 3.20e-8 ✓ sig. —
Absence epilepsy Childhood absence epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
CACNA1H(5), GABRB3(5), JRK(2)
0.200 0.429 6.89e-9 5.75e-8 ✓ sig. Cluster 47 →
Status epilepticus Temporal lobe epilepsy
6 genes
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6 of 6 corroborated by 2+ sources
VEGFA(2), CNR1(2), GRM1(2), GRM5(2), SLC12A5(2), AQP4(2)
0.061 0.182 7.13e-9 5.95e-8 ✓ sig. —
Microcephaly, epilepsy, and diabetes syndrome Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
2 genes
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2 of 2 corroborated by 2+ sources
IER3IP1(7), YIPF5(4)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Childhood absence epilepsy Dravet syndrome
3 genes
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3 of 3 corroborated by 2+ sources
GABRG2(2), GABRA1(2), SCN1B(3)
0.188 0.375 1.10e-8 8.82e-8 ✓ sig. Cluster 47 →
Focal epilepsy Progressive myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
DEPDC5(3), NPRL2(4), NPRL3(4)
0.115 0.750 1.33e-8 1.06e-7 ✓ sig. —
Partial epilepsy West syndrome
5 genes
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1 of 5 corroborated by 2+ sources
SCN8A(1), CDKL5(1), SCN1A(2), SCN2A(1), SPTAN1(1)
0.071 0.167 2.04e-8 1.59e-7 ✓ sig. —
Rolandic epilepsy Unverricht-lundborg syndrome
3 genes
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3 of 3 corroborated by 2+ sources
SCARB2(2), PRICKLE1(2), CSTB(5)
0.063 1.000 2.67e-8 2.03e-7 ✓ sig. —
Benign neonatal epilepsy Benign neonatal-infantile seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(3)
0.400 1.000 5.06e-8 3.71e-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 →
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 →
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. —
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 →
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. —

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