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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
Prpp synthetase superactivity PRPS1 deficiency disorder
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
PRPS1 deficiency disorder X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
pseudohyperaldosteronism type 2 Pseudohypoaldosteronism
1 gene
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1 of 1 corroborated by 2+ sources
NR3C2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
RDH12-related dominant retinopathy RDH12-related recessive retinopathy
1 gene
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RDH12(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Reducing body myopathy Uruguay faciocardio-musculoskeletal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 415 →
Reducing body myopathy X-linked scapuloperoneal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 415 →
regressive spondylometaphyseal dysplasia Reynolds syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LBR(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 280 →
regressive spondylometaphyseal dysplasia Rhizomelic skeletal dysplasia with or without pelger-huet anomaly
1 gene
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1 of 1 corroborated by 2+ sources
LBR(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 280 →
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 →
erythrocytosis, familial, 6 Hemoglobin c beta thalassemia
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 d disease
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 →
exostoses, multiple, type 2 Seizures, scoliosis, and macrocephaly/microcephaly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EXT2(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 93 →
Eye manifestations Partial epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 116 →
Eye pain Rhabdomyoma
1 gene
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POMC(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 376 →
Eye pain Sacroiliitis
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 376 →
Factor h deficiency Genetic hemolytic uremic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CFH(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 107 →
FAM111A-related skeletal dysplasia Osteocraniostenosis
1 gene
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1 of 1 corroborated by 2+ sources
FAM111A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Familial adenomatous polyposis gastric adenocarcinoma and proximal polyposis of the stomach
1 gene
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1 of 1 corroborated by 2+ sources
APC(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 41 →

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