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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
Corpus callosum agenesis with abnormal genitalia Periventricular heterotopia
1 gene
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1 of 1 corroborated by 2+ sources
ARX(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 259 →
Craniocerebral trauma Intracranial thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Craniofacial anomalies with anterior segment dysgenesis Polymorphous corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
VSX1(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 75 →
Craniofacial anomalies with anterior segment dysgenesis Posterior polymorphous corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
VSX1(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 75 →
Craniofacial deafness hand syndrome Kleins syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PAX3(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 229 →
craniofacial dysplasia - osteopenia syndrome Hypochromic microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
IRX5(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 3
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B3(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 1
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Cria syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome
1 gene
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RIPK1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 264 →
Ambiguous genitalia Cryptophthalmia
1 gene
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1 of 1 corroborated by 2+ sources
FREM2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Ambiguous genitalia Cryptotria
1 gene
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FREM2(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Cooleys anemia Cyanosis
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 19 →
Cyanosis Dominant beta-thalassemia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 19 →
Cystic kidney disease with ventriculomegaly Nephrotic syndrome, focal segmental type
1 gene
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1 of 1 corroborated by 2+ sources
CRB2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Cyanosis Cytochrome-b5 reductase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYB5R3(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital hip dysplasia Deafness with cataract, intellectual disability, and polyneuropathy
1 gene
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1 of 1 corroborated by 2+ sources
PSMC3(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Deafness with labyrinthine aplasia, microtia, and microdontia Oculopalatosekeletal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGF3(7)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Delta zero thalassemia Hemoglobin e disease
1 gene
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1 of 1 corroborated by 2+ sources
HBD(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Delta-thalassemia Hemoglobin e disease
1 gene
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1 of 1 corroborated by 2+ sources
HBD(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Dermatofibrosis lenticularis disseminata Tietz syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LEMD3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 175 →
CDKL5 disorder Retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
CDKL5(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Central areolar choroidal dystrophy PRPH2-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRPH2(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 45 →
Central areolar choroidal dystrophy GUCY2D-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
GUCY2D(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 45 →
Cerebellar atrophy with seizures and variable developmental delay generalized epilepsy-paroxysmal dyskinesia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNMA1(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 58 →
Cerebelloparenchymal disorder Ptosis
1 gene
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1 of 1 corroborated by 2+ sources
PMPCA(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 133 →

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