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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
pseudohyperaldosteronism type 2 Rolandic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
NR3C2(2)
0.021 1.000 3.05e-3 4.03e-3 ✓ sig. —
Myoclonus-renal failure syndrome Rolandic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SCARB2(2)
0.021 1.000 3.05e-3 4.03e-3 ✓ sig. —
Epilepsy of infancy with migrating focal seizures Myoclonic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.071 0.200 2.92e-3 3.88e-3 ✓ sig. —
Coloboma Early onset vitamin b6 dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
ALDH7A1(2)
0.056 0.333 2.92e-3 3.88e-3 ✓ sig. —
Bronchopulmonary dysplasia Genetic generalized epilepsy
1 gene
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TNK2(1)
0.022 1.000 2.92e-3 3.88e-3 ✓ sig. Cluster 119 →
exostoses, multiple, type 1 Partial epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
EXT1(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Axonal neuropathy Partial epilepsy
1 gene
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GBF1(1)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Absence epilepsy Synovial disorder
1 gene
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1 of 1 corroborated by 2+ sources
GABRB3(2)
0.077 0.167 2.72e-3 3.66e-3 ✓ sig. Cluster 47 →
Complex partial epilepsy Developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
SCN3A(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Glycogen storage disease
1 gene
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1 of 1 corroborated by 2+ sources
AFG3L2(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Xia-gibbs syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay X-linked intellectual disability-cerebellar hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OPHN1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Neurooculocardio-genitourinary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WDR37(6)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay PMM2-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Developmental delay with or without epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Corpus callosum agenesis with facial anomalies and robin sequence
1 gene
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DDX3X(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Progressive myoclonic epilepsy with renal failure
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(4)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay hyperinsulinemic hypoglycemia with polycystic kidney disease
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Complex partial epilepsy genetic developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
SCN3A(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay lissencephaly spectrum disorder with complex brainstem malformation
1 gene
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1 of 1 corroborated by 2+ sources
MACF1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1 gene
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VLDLR(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Congenital cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
OXR1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
genetic developmental and epileptic encephalopathy self-limited familial neonatal epilepsy
1 gene
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KCNQ3(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —

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