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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
Congenital nervous system disorder neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
1 gene
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1 of 1 corroborated by 2+ sources
UNC13A(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Continuous spike and wave during slow wave sleep syndrome Focal epilepsy with speech disorder and impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 365 →
Cryohydrocytosis Epilepsy with myoclonic absence
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 124 →
Deafness with congenital onychodystrophy Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Infantile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Doors syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Infantile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Periodic paralysis
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Lissencephaly, x-linked X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 259 →
Down syndrome Tonic-clonic epilepsy
2 genes
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1 of 2 corroborated by 2+ sources
NTF3(2), SNAP25(1)
0.067 0.167 9.45e-5 3.36e-4 ✓ sig. —
Ataxia Childhood absence epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
GABRA1(2), SLC2A1(3)
0.067 0.200 7.92e-5 2.83e-4 ✓ sig. Cluster 47 →
Body weight Tonic-clonic epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
BDNF(2), POMC(2)
0.074 0.167 6.64e-5 2.38e-4 ✓ sig. —
Abeta amyloidosis Partial epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 116 →
AFG3L2-related optic atrophy and/or spastic ataxia spectrum Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AFG3L2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Amyloid angiopathy Partial epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 116 →
Atypical absence epilepsy Minor epilepsy
1 gene
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NPY(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Atypical absence epilepsy Nasal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
NPY(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Autism-epilepsy syndrome Branched-chain keto acid dehydrogenase kinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
BCKDK(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
cerebral amyloid angiopathy, app-related Partial epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 116 →
Chromosome 17q23.1-q23.2 deletion syndrome Epilepsy with myoclonic absence
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 124 →
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies Dentatorubral pallidoluysian atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ATN1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Continuous spike and wave during sleep syndrome Focal epilepsy with speech disorder and impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 365 →
Corpus callosum agenesis with abnormal genitalia X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 259 →
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 90 →
Epilepsy with myoclonic absence GLUT1 deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 124 →

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