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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 Sensory ataxia
1 gene
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1 of 1 corroborated by 2+ sources
RNF170(3)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC1A4(2)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder spinocerebellar ataxia, autosomal recessive 28
1 gene
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1 of 1 corroborated by 2+ sources
THG1L(2)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder Stress-induced neurodegenerative ataxia seizure syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ADPRS(5)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder SYNCRIP-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SYNCRIP(2)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder syndromic X-linked intellectual disability Raymond type
1 gene
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1 of 1 corroborated by 2+ sources
ZDHHC9(2)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRRC8C(4)
0.001 1.000 6.09e-2 6.25e-2 —
Developmental delay with dysmorphic facies and brain anomalies Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
U2AF2(4)
0.001 1.000 6.09e-2 6.25e-2 —
Developmental delay with overweight and facial dysmorphism Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SRRM2(2)
0.001 1.000 6.09e-2 6.25e-2 —
Developmental delay with variable neurological abnormalities Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
LMBRD2(5)
0.001 1.000 6.09e-2 6.25e-2 —
Dworschak-punetha neurodevelopmental syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
PLXNA1(5)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Early-onset epilepsy-intellectual disability-brain anomalies syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
PIGG(4)
0.001 1.000 6.09e-2 6.25e-2 —
El-hayek-chahrour neurodevelopmental syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
KDM5A(4)
0.001 1.000 6.09e-2 6.25e-2 —
Hemiparkinsonism hemiatrophy syndrome Neurodevelopmental disorder
1 gene
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H3-3B(1)
0.001 1.000 6.09e-2 6.25e-2 —
hereditary fructose intolerance Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
ALDOB(2)
0.001 1.000 6.09e-2 6.25e-2 —
Hereditary sensory and autonomic neuropathy with spastic paraplegia Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
CCT5(2)
0.001 1.000 6.09e-2 6.25e-2 —
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
EXOSC5(5)
0.001 1.000 6.09e-2 6.25e-2 —
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
UBTF(5)
0.001 1.000 6.09e-2 6.25e-2 —
Chondroblastoma Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
H3-3B(2)
0.001 1.000 6.09e-2 6.25e-2 —
Clark-baraitser syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRIP12(6)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Neurodevelopmental disorder Partial deletion of short arm of chromosome 3
1 gene
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1 of 1 corroborated by 2+ sources
CHL1(2)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder Perlman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIS3L2(6)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder PIP5K1C-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
PIP5K1C(4)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder radio-tartaglia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPEN(2)
0.001 1.000 6.09e-2 6.25e-2 —
NAA10-related syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
NAA10(2)
0.001 1.000 6.09e-2 6.25e-2 —

Showing 25 of 20813 pairs, sorted by significance (ascending). Click a column header to sort.