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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Non-specific syndromic intellectual disability stankiewicz-isidor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSMD12(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Non-specific syndromic intellectual disability SYNCRIP-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SYNCRIP(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Intellectual developmental disorder behavioral short stature Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PUS7(5)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
Intellectual developmental disorder dysmorphic Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
POU3F3(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
Intellectual developmental disorder dysmorphic hypotonia Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
KMT5B(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Intellectual developmental disorder growth behavioral Non-specific syndromic intellectual disability
1 gene
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PPP2R5D(1)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Intellectual developmental disorder macrocephaly hypotonia behavioral Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R5D(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Intellectual developmental disorder peripheral neuropathy Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
NUDT2(5)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
Intellectual developmental disorder seizures epilepsy Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
AP2M1(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Intellectual developmental disorder seizures language Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
SETD1B(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Intellectual developmental disorder speech ambulation Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ACTL6B(4)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
intellectual developmental disorder, autosomal dominant 65 Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
KDM4B(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
KCND2-related neurodevelopmental disorder with or without seizures Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
KCND2(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
SHMT2(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
TRAPPC4(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
neurodevelopmental disorder with or without seizures and gait abnormalities Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
GRIA4(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MED27(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
CTR9-related neurodevelopmental disorder Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
CTR9(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Deeah syndrome Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MADD(4)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Degcags syndrome Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ZNF699(4)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Dentici novelli neurodevelopmental syndrome Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ZNF526(4)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Non-specific syndromic intellectual disability Parenti-mignot neurodevelopmental syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD5(5)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Non-specific syndromic intellectual disability PIP5K1C-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
PIP5K1C(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —
Non-specific syndromic intellectual disability radio-tartaglia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPEN(2)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. —

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