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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
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 Neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features
1 gene
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GTPBP1(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
1 gene
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NRCAM(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Primary microcephaly, cortical malformation, and epileptic encephalopathy
1 gene
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TMX2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy POLR3B-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
POLR3B(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 636 →
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Spastic paraplegia 83, autosomal recessive
1 gene
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HPDL(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic paraplegia 83, autosomal recessive
1 gene
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HPDL(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic paraplegia 83, autosomal recessive Spastic paraplegia 83, autosomal recessive
1 gene
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HPDL(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
1 gene
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HECTD4(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with spasticity and poor growth Severe early-onset encephalopathy with progressive microcephaly
1 gene
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UFC1(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental spectrum including lissencephaly with genital anomalies and epilepsy to non-syndromic intellectual disability 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 →
Neuronopathy, distal hereditary motor, autosomal recessive 11, with 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. —
Parkinsonism with spasticity, x-linked X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(7)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Phosphoribosylpyrophosphate synthetase superactivity 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(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 347 →
Proud syndrome 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 →
PRPS1 deficiency disorder 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(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 347 →
Pyridoxine refractory sideroblastic anemia 3 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 →

Showing 16 of 166 matching pairs, sorted by significance (descending). Click a column header to sort.