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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
Charcot-Marie-Tooth disease axonal type 2N Congenital clubfoot
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Childhood-onset basal ganglia degeneration syndrome Diffuse cutaneous systemic sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
VAC14(3)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Anti-neutrophil antibody associated vasculitis Chromosome xq27.3-q28 duplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FMR1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
ciliary dyskinesia, primary, 41 Nasal disorder
1 gene
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1 of 1 corroborated by 2+ sources
GAS2L2(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 137 →
immunodeficiency 84 Nasal disorder
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
immunoskeletal dysplasia with neurodevelopmental abnormalities Skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
EXTL3(3)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 68 →
Intellectual developmental disorder growth seizures Systemic mastocytosis
1 gene
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1 of 1 corroborated by 2+ sources
ABCA2(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 235 →
Fuchs endothelial dystrophy Intellectual developmental disorder seizures cerebellar
1 gene
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1 of 1 corroborated by 2+ sources
RORA(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Fuchs endothelial dystrophy intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
PIDD1(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 75 →
INTU-related skeletal ciliopathy Short-rib thoracic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
INTU(4)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 22 →
Fuchs endothelial dystrophy LAMA5-related multisystemic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LAMA5(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
LCA5-related retinopathy Polycystic liver disease
1 gene
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1 of 1 corroborated by 2+ sources
LCA5(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Anti-neutrophil antibody associated vasculitis Hemophilia a carriers
1 gene
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1 of 1 corroborated by 2+ sources
F8(3)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Carotid artery thrombosis Hereditary hemophagocytic lymphohistiocytosis
1 gene
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1 of 1 corroborated by 2+ sources
STXBP2(3)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
autosomal recessive primary microcephaly Congenital malformation syndromes associated with short stature
1 gene
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1 of 1 corroborated by 2+ sources
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Erythropoietic protoporphyria X-linked sideroblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
ALAS2(6)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. Cluster 158 →
Cerebral cortical atrophy Proximal spinal muscular atrophy
1 gene
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SPG7(1)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. Cluster 333 →
Carotid artery thrombosis Congenital lactic acidosis
1 gene
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1 of 1 corroborated by 2+ sources
STXBP2(2)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Congenital lactic acidosis Lobular carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Diabetic nephropathy type 1 Ritscher-schinzler syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DPYSL5(4)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Contracture of multiple joints Skeletal muscle disorder
1 gene
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KIF5B(1)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Corneal edema Laryngeal disease
1 gene
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0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Coronary syndrome Paralytic strabismus
1 gene
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PHACTR1(1)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Encephalocele Monomelic amyotrophy
1 gene
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CPLANE1(1)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —
Congenital cystic eyeball Multiple synostoses syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GDF6(5)
0.100 0.250 1.56e-3 2.38e-3 ✓ sig. —

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