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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
Ataxia with deafness and vision loss X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
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PRPS1(1)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 347 →
Axial hypotonia Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MED27(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 316 →
Complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum Periventricular leukomalacia
1 gene
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1 of 1 corroborated by 2+ sources
RPS6KC1(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Lissencephaly, x-linked X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(8)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 223 →
Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy Tremor-ataxia-central hypomyelination syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 636 →
Anemia, sideroblastic, 3, pyridoxine-refractory Spasticity with hyperglycinemia
1 gene
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1 of 1 corroborated by 2+ sources
GLRX5(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 432 →
Arts syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(6)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 347 →
ATP6AP2-related disorder Parkinsonism with spasticity, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
ATP6AP2-related disorder X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Corpus callosum agenesis with abnormal genitalia X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(7)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 223 →
Developmental delay, epilepsy, and microcephaly Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NSRP1(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Spastic paraplegia 79b, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
UCHL1(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Parkinson disease 5, autosomal dominant, susceptibility to
1 gene
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1 of 1 corroborated by 2+ sources
UCHL1(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Spastic paraplegia 79a, autosomal dominant
1 gene
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1 of 1 corroborated by 2+ sources
UCHL1(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Epileptic encephalopathy early infantile type 1 X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 223 →
Hydranencephaly with abnormal genitalia X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 223 →
Intellectual developmental disorder hypotonia spastic sleep Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ANK3(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder with epilepsy Parkinsonism with spasticity, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder with epilepsy X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Lethal infantile epileptic encephalopathy Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
1 gene
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PLAA(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Leukodystrophy, hypomyelinating with or without oligodontia and/or hypogonadotropic hypogonadism Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy
1 gene
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POLR3B(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 636 →
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy
1 gene
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POLR3B(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 636 →
Lower limb spasticity Spastic paraplegia 12, autosomal dominant
1 gene
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RTN2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Lower limb spasticity Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
1 gene
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RTN2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity Neurodevelopmental disorder with or without structural brain anomalies, optic atrophy, seizures and spasticity
1 gene
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PTPN23(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —

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