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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
Parkinsonism with spasticity, x-linked X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(5)
0.013 1.000 4.78e-3 5.75e-3 ✓ sig. —
X-linked intellectual disability X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(4)
0.013 1.000 4.78e-3 5.75e-3 ✓ sig. —
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
ANK3(3)
0.014 1.000 4.58e-3 5.54e-3 ✓ sig. —
Corneal astigmatism Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
1 gene
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1 of 1 corroborated by 2+ sources
TNR(3)
0.014 1.000 4.58e-3 5.54e-3 ✓ sig. Cluster 430 →
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
HPDL(2)
0.014 1.000 4.52e-3 5.48e-3 ✓ sig. —
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic paraplegia 83, autosomal recessive Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
HPDL(2)
0.014 1.000 4.52e-3 5.48e-3 ✓ sig. —
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Non-organic psychosis
1 gene
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1 of 1 corroborated by 2+ sources
ANK3(2)
0.014 1.000 4.46e-3 5.41e-3 ✓ sig. —
Combined oxidative phosphorylation deficiency Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
TRMT5(7)
0.014 1.000 4.39e-3 5.34e-3 ✓ sig. Cluster 16 →
Neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum Pancreatitis
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.017 1.000 3.68e-3 4.56e-3 ✓ sig. —
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum Pancreatitis
1 gene
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1 of 1 corroborated by 2+ sources
HECTD4(2)
0.017 1.000 3.68e-3 4.56e-3 ✓ sig. —
Hemolytic anemia Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK1(3)
0.018 1.000 3.55e-3 4.42e-3 ✓ sig. —
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Non-neoplastic peripheral nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
UCHL1(4)
0.018 1.000 3.49e-3 4.34e-3 ✓ sig. —
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Peripheral nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
UCHL1(5)
0.019 1.000 3.42e-3 4.29e-3 ✓ sig. —
Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia Nystagmus
1 gene
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1 of 1 corroborated by 2+ sources
INPP4A(2)
0.021 1.000 2.97e-3 3.79e-3 ✓ sig. —
Neurodegenerative disease Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
1 gene
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HPDL(1)
0.023 1.000 2.78e-3 3.56e-3 ✓ sig. —
Neurodegenerative disease Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities spastic paraplegia 83, autosomal recessive
1 gene
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HPDL(1)
0.023 1.000 2.78e-3 3.56e-3 ✓ sig. —
Hypospadias Neurodevelopmental disorder with progressive spasticity and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
EEFSEC(2)
0.023 1.000 2.71e-3 3.48e-3 ✓ sig. —
Chronic obstructive pulmonary disease Neurodevelopmental disorder with progressive spasticity and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
EEFSEC(2)
0.024 1.000 2.65e-3 3.41e-3 ✓ sig. —
Distal hereditary motor neuropathy Lower limb spasticity
1 gene
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1 of 1 corroborated by 2+ sources
RTN2(5)
0.026 1.000 2.39e-3 3.12e-3 ✓ sig. —
Distal hereditary motor neuropathy Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
1 gene
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1 of 1 corroborated by 2+ sources
RTN2(5)
0.026 1.000 2.39e-3 3.12e-3 ✓ sig. —
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities Primary microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
MFSD2A(4)
0.027 1.000 2.32e-3 3.05e-3 ✓ sig. Cluster 54 →
Hypomyelinating leukodystrophy Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK1(2)
0.031 1.000 2.00e-3 2.72e-3 ✓ sig. —
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
SHMT2(2)
0.033 1.000 1.87e-3 2.57e-3 ✓ sig. Cluster 230 →
Dyskeratosis congenita Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
INPP4A(2)
0.034 1.000 1.81e-3 2.49e-3 ✓ sig. —
Anhedonia Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ANK3(2)
0.037 1.000 1.68e-3 2.34e-3 ✓ sig. —

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