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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 neonatal-onset encephalopathy with rigidity and seizures
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder neurodevelopmental disorder with cerebellar atrophy and with or without seizures
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder neurodevelopmental disorder with severe motor impairment and absent language
1 gene
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1 of 1 corroborated by 2+ sources
DHX30(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MED27(2)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
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 —
Intellectual developmental disorder Paraparesis
1 gene
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1 of 1 corroborated by 2+ sources
TECPR2(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Partial deletion of short arm of chromosome 3
1 gene
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1 of 1 corroborated by 2+ sources
CHL1(3)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A17(3)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Lethal neonatal rigidity and multifocal seizure syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder megalencephalic leukoencephalopathy with subcortical cysts 2a
1 gene
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1 of 1 corroborated by 2+ sources
HEPACAM(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
HEPACAM(2)
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 —
Giant cell tumor of bone Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
H3-3A(2)
0.001 1.000 5.25e-2 5.42e-2 —
glutamate pyruvate transaminase 2 deficiency Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
GPT2(2)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
goldberg-shprintzen syndrome Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
KIFBP(3)
0.001 1.000 5.25e-2 5.42e-2 —
Dilated cardiomyopathy Nephropathic cystinosis
1 gene
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TAX1BP3(1)
0.004 0.333 5.23e-2 5.41e-2 —
Bile duct disease Migraine
1 gene
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1 of 1 corroborated by 2+ sources
FECH(3)
0.002 0.500 5.18e-2 5.36e-2 —
bleeding disorder, platelet-type, 22 Squamous cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
EPHB2(2)
0.001 1.000 5.12e-2 5.31e-2 —
immunodeficiency, common variable, 5 Squamous cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
MS4A1(2)
0.001 1.000 5.12e-2 5.31e-2 —
Riddle syndrome Squamous cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
RNF168(7)
0.001 1.000 5.12e-2 5.31e-2 —
Citrin deficiency Squamous cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
0.001 1.000 5.12e-2 5.31e-2 —
Squamous cell carcinoma Vexas syndrome
1 gene
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1 of 1 corroborated by 2+ sources
UBA1(5)
0.001 1.000 5.12e-2 5.31e-2 —

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