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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 ichthyosis-intellectual disability-spastic quadriplegia syndrome Erythrokeratodermia with ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ELOVL4(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Otopalatodigital spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital idiopathic intestinal pseudoobstruction Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital idiopathic intestinal pseudoobstruction X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital idiopathic intestinal pseudoobstruction X-linked keloid scarring syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital intestinal duplication Congenital macrodactylia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital intestinal duplication Congenital malformation syndromes involving early overgrowth
1 gene
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PIK3CA(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital intestinal duplication 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 macrodactylia Congenital malformation syndromes involving early overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital macrodactylia 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 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
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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 →
Epilepsy with myoclonic absence GLUT1 deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 124 →
Erythrocyte lactate transporter defect Fatty acid and ketone body metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
SLC16A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Erythrocyte lactate transporter defect Fatty acid oxidation and ketone body metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
SLC16A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Erythrocyte udp-galactose-4-epimerase deficiency Udp-glucose 4-epimerase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GALE(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 340 →
Erythrocyte udp-galactose-4-epimerase deficiency galactose epimerase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GALE(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 340 →
Cooleys anemia erythrocytosis, familial, 6
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Dominant beta-thalassemia erythrocytosis, familial, 6
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
erythrocytosis, familial, 6 Hemoglobin c disease
1 gene
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1 of 1 corroborated by 2+ sources
HBB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →

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