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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
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. —
Microcephaly Neurodevelopmental disorder with spasticity and poor growth
1 gene
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UFC1(1)
0.006 1.000 1.03e-2 1.14e-2 ✓ sig. —
Microcephaly Microcephaly, seizures, spasticity, and brain calcification
1 gene
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PCDH12(1)
0.006 1.000 1.03e-2 1.14e-2 ✓ sig. —
Microcephaly Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
SHMT2(2)
0.006 1.000 1.03e-2 1.14e-2 ✓ sig. —
Microcephaly Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
1 gene
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INPP4A(1)
0.006 1.000 1.03e-2 1.14e-2 ✓ sig. —
Neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity Orofacial cleft
1 gene
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1 of 1 corroborated by 2+ sources
NRCAM(2)
0.006 1.000 1.01e-2 1.13e-2 ✓ sig. —
Anxiety disorder Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
TMX2(2)
0.007 1.000 9.43e-3 1.06e-2 ✓ sig. —
Myopia Neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
NRCAM(2)
0.007 1.000 8.72e-3 9.86e-3 ✓ sig. —
Complex neurodevelopmental disorder Complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum
1 gene
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RPS6KC1(1)
0.007 1.000 8.65e-3 9.79e-3 ✓ sig. —
Endometrial neoplasms Neurodevelopmental disorder with progressive spasticity and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
EEFSEC(2)
0.008 1.000 8.52e-3 9.68e-3 ✓ sig. —
Lower limb spasticity Spastic paraplegia
1 gene
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1 of 1 corroborated by 2+ sources
RTN2(5)
0.008 1.000 8.01e-3 9.13e-3 ✓ sig. —
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity Spastic paraplegia
1 gene
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1 of 1 corroborated by 2+ sources
RTN2(5)
0.008 1.000 8.01e-3 9.13e-3 ✓ sig. —
Cerebellar ataxia Microcephaly, seizures, spasticity, and brain calcification
1 gene
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1 of 1 corroborated by 2+ sources
PCDH12(2)
0.008 1.000 7.81e-3 8.93e-3 ✓ sig. —
Congenital neurologic anomalies Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
TMX2(2)
0.009 1.000 7.43e-3 8.57e-3 ✓ sig. —
Leigh syndrome Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
HPDL(3)
0.009 1.000 7.04e-3 8.16e-3 ✓ sig. —
Leigh syndrome Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic paraplegia 83, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
HPDL(3)
0.009 1.000 7.04e-3 8.16e-3 ✓ sig. —
Hereditary spastic paraplegia Neurodevelopmental disorder with or without structural brain anomalies, optic atrophy, seizures and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
PTPN23(2)
0.009 1.000 6.78e-3 7.88e-3 ✓ sig. —
Hereditary spastic paraplegia Lower limb spasticity
1 gene
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1 of 1 corroborated by 2+ sources
RTN2(2)
0.009 1.000 6.78e-3 7.88e-3 ✓ sig. —
Hereditary spastic paraplegia Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
1 gene
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1 of 1 corroborated by 2+ sources
PTPN23(2)
0.009 1.000 6.78e-3 7.88e-3 ✓ sig. —
Hereditary spastic paraplegia Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
1 gene
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1 of 1 corroborated by 2+ sources
RTN2(2)
0.009 1.000 6.78e-3 7.88e-3 ✓ sig. —
Neurodevelopmental disorder with progressive spasticity and brain abnormalities Obstructive airway disease
1 gene
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1 of 1 corroborated by 2+ sources
EEFSEC(2)
0.010 1.000 6.39e-3 7.50e-3 ✓ sig. —
Intellectual developmental disorder, x-linked X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(6)
0.011 1.000 5.81e-3 6.84e-3 ✓ sig. —
Intellectual developmental disorder, x-linked Parkinsonism with spasticity, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(4)
0.011 1.000 5.81e-3 6.84e-3 ✓ sig. —
Age-related macular degeneration Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
1 gene
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1 of 1 corroborated by 2+ sources
TNR(3)
0.012 1.000 5.42e-3 6.44e-3 ✓ sig. —
Dystonia Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MED27(2)
0.012 1.000 5.17e-3 6.16e-3 ✓ sig. —

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