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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 muscular dystrophy with intellectual disability and severe epilepsy Glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
DPM2(2)
0.004 1.000 1.52e-2 1.68e-2 ✓ sig. —
Epilepsy Juvenile absence epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
EFHC1(3)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy Neurooculocardio-genitourinary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WDR37(6)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy Partial corpus callosum agenesis
1 gene
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1 of 1 corroborated by 2+ sources
KPNA7(3)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy Neurogenic bladder
1 gene
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1 of 1 corroborated by 2+ sources
CHRM2(2)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
OTUD6B(2)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
developmental and epileptic encephalopathy, 77 Epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
PIGQ(2)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
1q44 microdeletion syndrome Epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
HNRNPU(3)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy X-linked epilepsy-learning disabilities-behavior disorders syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SYN1(2)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy hermansky-pudlak syndrome 4
1 gene
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1 of 1 corroborated by 2+ sources
HPS4(2)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy X-linked epilepsy with variable learning disabilities and behavior disorders
1 gene
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1 of 1 corroborated by 2+ sources
SYN1(4)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy Intellectual developmental disorder seizures language
1 gene
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1 of 1 corroborated by 2+ sources
SETD1B(3)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy Intellectual developmental disorder dysmorphic seizures
1 gene
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1 of 1 corroborated by 2+ sources
OTUD6B(5)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Epilepsy X-linked epilepsy with learning disability and behavior disorder syndrome
1 gene
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SYN1(1)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Ataxia with oculomotor apraxia and hypoalbuminemia Epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
APTX(2)
0.004 1.000 1.51e-2 1.67e-2 ✓ sig. —
Developmental and epileptic encephalopathy Hyperekplexia epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF9(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy Genetic generalized epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TNK2(2)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNH5(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Optic atrophy Progressive myoclonic epilepsy with renal failure
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(4)
0.005 1.000 1.18e-2 1.32e-2 ✓ sig. —
Juvenile absence epilepsy Peripheral arterial disease
1 gene
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1 of 1 corroborated by 2+ sources
EFHC1(2)
0.006 1.000 1.15e-2 1.29e-2 ✓ sig. —
Early onset epilepsy with developmental delay Psoriasis vulgaris
1 gene
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1 of 1 corroborated by 2+ sources
SETD1A(5)
0.018 0.333 1.05e-2 1.18e-2 ✓ sig. —
Genetic generalized epilepsy Liver neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TNK2(2)
0.007 1.000 9.87e-3 1.12e-2 ✓ sig. —
Developmental disability Hyperekplexia epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF9(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Nonsyndromic intellectual disability Progressive myoclonic epilepsy with renal failure
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(5)
0.007 1.000 9.16e-3 1.05e-2 ✓ sig. —

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