Log in to save this analysis

Save This Analysis

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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Neurodevelopmental disorder with dysmorphic features, hypotonia, and spasticity Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
1 gene
Show details
NRCAM(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 Neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features
1 gene
Show details
GTPBP1(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
Show details
PTPN23(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Intellectual developmental disorder hypotonia spastic sleep Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
1 gene
Show details
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
Show details
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
Show details
1 of 1 corroborated by 2+ sources
ATP6AP2(4)
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
Show details
RTN2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Lower limb spasticity Spastic paraplegia 12, autosomal dominant
1 gene
Show details
RTN2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy
1 gene
Show details
POLR3B(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 636 →
Lethal infantile epileptic encephalopathy Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
1 gene
Show details
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
Show details
POLR3B(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 636 →
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Spasticity with hyperglycinemia
1 gene
Show details
1 of 1 corroborated by 2+ sources
GLRX5(3)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 432 →
Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy Tremor-ataxia-central hypomyelination syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
POLR3B(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 636 →
Lissencephaly, x-linked X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
ARX(8)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 223 →
Complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum Periventricular leukomalacia
1 gene
Show details
1 of 1 corroborated by 2+ sources
RPS6KC1(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Ataxia with deafness and vision loss X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
Show details
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
Show details
1 of 1 corroborated by 2+ sources
MED27(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 316 →
Diencephalic mesencephalic junction dysplasia Microcephaly, seizures, spasticity, and brain calcification
1 gene
Show details
1 of 1 corroborated by 2+ sources
PCDH12(6)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. —
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked nonsyndromic hearing loss
1 gene
Show details
1 of 1 corroborated by 2+ sources
PRPS1(3)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 347 →
Ectopic thyroid tissue Spasticity
1 gene
Show details
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
Show details
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
Show details
LIG3(1)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Arachnoid cysts X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
ARX(4)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 223 →
Cerebellar hypoplasia Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
Show details
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
Show details
INPP4A(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —

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