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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
Complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
RPS6KC1(2)
0.002 1.000 2.82e-2 2.96e-2 ✓ sig. —
Intellectual disability Neurodevelopmental disorder with or without structural brain anomalies, optic atrophy, seizures and spasticity
1 gene
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PTPN23(1)
0.002 1.000 2.67e-2 2.82e-2 ✓ sig. —
Intellectual disability Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
1 gene
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PTPN23(1)
0.002 1.000 2.67e-2 2.82e-2 ✓ sig. —
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Open angle glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TNR(3)
0.003 1.000 2.39e-2 2.54e-2 ✓ sig. Cluster 430 →
Neurodevelopmental disorder with or without structural brain anomalies, optic atrophy, seizures and spasticity Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PTPN23(3)
0.003 1.000 2.38e-2 2.53e-2 ✓ sig. —
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
TRAPPC4(4)
0.003 1.000 2.38e-2 2.53e-2 ✓ sig. Cluster 3 →
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PTPN23(3)
0.003 1.000 2.38e-2 2.53e-2 ✓ sig. —
Neurodevelopmental disorder with speech and motor delay and spasticity Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
RAB1A(2)
0.003 1.000 2.38e-2 2.53e-2 ✓ sig. Cluster 3 →
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
ELOVL1(2)
0.003 1.000 2.36e-2 2.52e-2 ✓ sig. Cluster 10 →
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome Nonalcoholic fatty liver disease
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK1(3)
0.003 1.000 2.04e-2 2.19e-2 ✓ sig. —
Colorectal neoplasms Neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
NRCAM(2)
0.003 1.000 1.85e-2 2.00e-2 ✓ sig. —
Juvenile idiopathic arthritis Neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
NRCAM(2)
0.004 1.000 1.71e-2 1.85e-2 ✓ sig. —
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Tourette syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SHMT2(3)
0.004 1.000 1.66e-2 1.80e-2 ✓ sig. —
Anorexia nervosa Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
SHMT2(3)
0.004 1.000 1.61e-2 1.75e-2 ✓ sig. —
Diverticular disease Neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features
1 gene
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1 of 1 corroborated by 2+ sources
GTPBP1(3)
0.004 1.000 1.60e-2 1.74e-2 ✓ sig. —
Mitochondrial disease Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
TRMT5(6)
0.004 1.000 1.60e-2 1.74e-2 ✓ sig. Cluster 16 →
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Obsessive-compulsive disorder
1 gene
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1 of 1 corroborated by 2+ sources
SHMT2(3)
0.004 1.000 1.50e-2 1.64e-2 ✓ sig. —
Cataract Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MED27(2)
0.005 1.000 1.36e-2 1.50e-2 ✓ sig. —
Celiac disease Neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.005 1.000 1.25e-2 1.38e-2 ✓ sig. —
Celiac disease Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.005 1.000 1.25e-2 1.38e-2 ✓ sig. —
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ELOVL1(2)
0.005 1.000 1.22e-2 1.35e-2 ✓ sig. Cluster 10 →
Ischemic heart disease Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.006 1.000 1.09e-2 1.21e-2 ✓ sig. —
Ischemic heart disease Neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.006 1.000 1.09e-2 1.21e-2 ✓ sig. —
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Sarcoidosis
1 gene
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1 of 1 corroborated by 2+ sources
TNR(3)
0.006 1.000 1.05e-2 1.17e-2 ✓ sig. —
Esophageal cancer Neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.006 1.000 1.03e-2 1.15e-2 ✓ sig. —

Showing 25 of 166 matching pairs, sorted by significance (descending). Click a column header to sort.