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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
Congenital malabsorptive diarrhea Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency
1 gene
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1 of 1 corroborated by 2+ sources
NEUROG3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital malformation of cornea Cornea plana
1 gene
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1 of 1 corroborated by 2+ sources
KERA(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital malformation syndromes involving early overgrowth Hemifacial myohyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital merosin-deficient muscular dystrophy LAMA2-related muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital methemoglobinemia Cytochrome-b5 reductase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYB5R3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital mitral valve atresia Intellectual developmental disorder language autism
1 gene
Show details
1 of 1 corroborated by 2+ sources
FOXP1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 324 →
Congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 326 →
lesch-nyhan syndrome Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HPRT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Lethal neonatal rigidity and multifocal seizure syndrome Rigidity and multifocal seizure syndrome, lethal neonatal
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Lethal neonatal rigidity and multifocal seizure syndrome 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)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Lethal neonatal rigidity and multifocal seizure syndrome neonatal-onset encephalopathy with rigidity and seizures
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
leukemia, acute lymphoblastic, susceptibility to, 3 PAX5-related B lymphopenia and autism spectrum disorder
1 gene
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PAX5(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
liberfarb syndrome Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PISD(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Limb-mammary syndrome Rudiger syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 27 →
Limb-mammary syndrome Sweat gland neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 27 →
Lipoatrophic diabetes mellitus Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
Lipoatrophic diabetes mellitus Malouf syndrome
1 gene
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LMNA(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
LRP5-related exudative vitreoretinopathy Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 98 →
LRP5-related exudative vitreoretinopathy polycystic liver disease 4 with or without kidney cysts
1 gene
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LRP5(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 98 →
Lymphedema-distichiasis syndrome Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
FOXC2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Lymphoproliferative disorder of natural killer cells STAT3-related early-onset multisystem autoimmune disease
1 gene
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1 of 1 corroborated by 2+ sources
STAT3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 205 →
lysosomal acid lipase deficiency Wolman disease
1 gene
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1 of 1 corroborated by 2+ sources
LIPA(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Sebastian syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH9(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Malan syndrome marshall-smith syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NFIX(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Malouf syndrome Severe lipodystrophic laminopathy
1 gene
Show details
1 of 1 corroborated by 2+ sources
LMNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →

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