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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
Periventricular heterotopia X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 259 →
Deafness with congenital onychodystrophy Infantile myoclonic epilepsy
1 gene
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TBC1D24(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 90 →
Doors syndrome Infantile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(4)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 90 →
Infantile myoclonic epilepsy Periodic paralysis
1 gene
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TBC1D24(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 90 →
Benign neonatal epilepsy fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Benign neonatal epilepsy hemiplegic migraine-developmental and epileptic encephalopathy spectrum
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Benign neonatal epilepsy neonatal-onset developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 165 →
Epilepsy with auditory features Sacroiliac arthritis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Epilepsy with auditory features Sacroiliac joint synovitis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Epilepsy with myoclonic absence Paroxysmal dystonic choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
generalized epilepsy-paroxysmal dyskinesia syndrome Paroxysmal nonkinesigenic dyskinesia
1 gene
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1 of 1 corroborated by 2+ sources
KCNMA1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Dysgenesis of corpus callosum Juvenile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CILK1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 62 →
Lateral temporal lobe epilepsy Sacroiliac arthritis
1 gene
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RELN(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Lateral temporal lobe epilepsy Sacroiliac joint synovitis
1 gene
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RELN(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Benign neonatal epilepsy neonatal encephalopathy with non-epileptic myoclonus
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 165 →
Benign neonatal epilepsy self-limited familial neonatal epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ3(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 165 →
Amyloid neuropathy Partial epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 116 →
Arachnoid cysts X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 259 →
CBL-related disorder Early onset vitamin b6 dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CBL(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATN1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Digitrenocerebral syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 90 →
Amish infantile epilepsy syndrome spinocerebellar ataxia type 2
1 gene
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1 of 1 corroborated by 2+ sources
ATXN2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Amish infantile epilepsy syndrome Salt and pepper developmental regression syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ST3GAL5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Amish infantile epilepsy syndrome GM3 synthase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ST3GAL5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Childhood-onset glut1 deficiency syndrome 2 Epilepsy with myoclonic absence
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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