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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
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. —
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. —
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 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. —
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 spasticity, epilepsy and cerebellar hypoplasia
1 gene
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INPP4A(1)
0.048 1.000 1.29e-3 1.89e-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. —
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. —
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. —
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. —
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 →
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. —
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. —
Cerebellar hypoplasia Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MED27(2)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Cerebellar hypoplasia Neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
1 gene
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INPP4A(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Arachnoid cysts X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(4)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 223 →
Ectopic thyroid tissue Spasticity
1 gene
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1 of 1 corroborated by 2+ sources
FBXO31(2)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Spasticity
1 gene
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1 of 1 corroborated by 2+ sources
MED27(2)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Repetitive behaviours Spasticity
1 gene
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LIG3(1)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked nonsyndromic hearing loss
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(3)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 347 →
Diencephalic mesencephalic junction dysplasia Microcephaly, seizures, spasticity, and brain calcification
1 gene
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1 of 1 corroborated by 2+ sources
PCDH12(6)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. —
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Spasticity with hyperglycinemia
1 gene
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1 of 1 corroborated by 2+ sources
GLRX5(3)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 432 →

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