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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
Exudative retinopathy Microcephaly, seizures, spasticity, and brain calcification
1 gene
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1 of 1 corroborated by 2+ sources
PCDH12(2)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. —
Axial hypotonia Spasticity
1 gene
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MED27(1)
0.167 0.500 5.16e-4 9.13e-4 ✓ sig. —
Neurogenic bladder Spasticity
1 gene
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LIG3(1)
0.167 0.500 5.16e-4 9.13e-4 ✓ sig. —
Sideroblastic anemia Spasticity with hyperglycinemia
1 gene
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1 of 1 corroborated by 2+ sources
GLRX5(7)
0.077 1.000 7.75e-4 1.25e-3 ✓ sig. Cluster 432 →
Brain atrophy 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)
0.071 1.000 8.39e-4 1.34e-3 ✓ sig. —
Brain atrophy 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)
0.071 1.000 8.39e-4 1.34e-3 ✓ sig. —
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Prion disease
1 gene
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1 of 1 corroborated by 2+ sources
ANK3(2)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Gross motor development delay Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
MFSD2A(2)
0.053 1.000 1.16e-3 1.73e-3 ✓ sig. —
Marshall syndrome Microcephaly, seizures, spasticity, and brain calcification
1 gene
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1 of 1 corroborated by 2+ sources
PCDH12(2)
0.050 1.000 1.23e-3 1.81e-3 ✓ sig. —
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK1(2)
0.048 1.000 1.29e-3 1.89e-3 ✓ sig. Cluster 90 →
Autosomal recessive mental retardation Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
1 gene
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INPP4A(1)
0.048 1.000 1.29e-3 1.89e-3 ✓ sig. —
Cryptorchidism Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
MFSD2A(2)
0.048 1.000 1.29e-3 1.89e-3 ✓ sig. —
Autosomal recessive mental retardation Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy
1 gene
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POLR3B(1)
0.048 1.000 1.29e-3 1.89e-3 ✓ sig. —
Febrile convulsion Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
MFSD2A(2)
0.043 1.000 1.42e-3 2.04e-3 ✓ sig. —
Autosomal recessive primary microcephaly Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
1 gene
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MFSD2A(1)
0.040 1.000 1.55e-3 2.19e-3 ✓ sig. Cluster 54 →
Neurodevelopmental disorder with progressive spasticity and brain abnormalities Uterine polyp
1 gene
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1 of 1 corroborated by 2+ sources
EEFSEC(2)
0.040 1.000 1.55e-3 2.19e-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. —
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. —
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 →
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 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 →
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. —
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. —
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. —
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. —

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