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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
Intellectual developmental disorder neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HNRNPK(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Oculocerebrorenal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OCRL(5)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder ornithine translocase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.001 1.000 5.25e-2 5.42e-2 —
Branched-chain keto acid dehydrogenase kinase deficiency Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
BCKDK(5)
0.001 1.000 5.25e-2 5.42e-2 —
Carnosinemia Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
CNDP1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
POU3F3(2)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
Intellectual developmental disorder Intellectual developmental disorder dysmorphic hypotonia
1 gene
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1 of 1 corroborated by 2+ sources
KMT5B(5)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder dysmorphic ocular
1 gene
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1 of 1 corroborated by 2+ sources
MTSS2(3)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
Intellectual developmental disorder Intellectual developmental disorder dysmorphic seizures
1 gene
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1 of 1 corroborated by 2+ sources
OTUD6B(5)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder growth metabolic
1 gene
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1 of 1 corroborated by 2+ sources
DIP2B(4)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder growth microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
CTCF(3)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder peripheral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
NUDT2(5)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
Intellectual developmental disorder Intellectual developmental disorder seizures dysmorphic gait
1 gene
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1 of 1 corroborated by 2+ sources
WDR26(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder seizures epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
AP2M1(4)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder short stature facial
1 gene
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1 of 1 corroborated by 2+ sources
FBXL3(3)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Intellectual developmental disorder short stature facial speech
1 gene
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1 of 1 corroborated by 2+ sources
FBXL3(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder intellectual disability, autosomal recessive 61
1 gene
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1 of 1 corroborated by 2+ sources
RUSC2(5)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder jaberi-elahi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GTPBP2(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Kidney atrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.001 1.000 5.25e-2 5.42e-2 —
Acromelic frontonasal dysostosis Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
ZSWIM6(2)
0.001 1.000 5.25e-2 5.42e-2 —
ALG3-congenital disorder of glycosylation Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
ALG3(2)
0.001 1.000 5.25e-2 5.42e-2 —
Allan-herndon-dudley syndrome Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SLC16A2(3)
0.001 1.000 5.25e-2 5.42e-2 —
Alpha-mannosidosis Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
MAN2B1(4)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Urocanate hydratase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
UROC1(7)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder X-linked intellectual disability, Cabezas type
1 gene
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1 of 1 corroborated by 2+ sources
CUL4B(2)
0.001 1.000 5.25e-2 5.42e-2 —

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