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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
POLR3A-related disorder Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
polycystic liver disease 4 with or without kidney cysts 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 →
Potassium-aggravated myotonia SCN4A-related myopathy, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 163 →
Preaxial polydactyly with upper back hypertrichosis Skeletal system disorder
1 gene
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1 of 1 corroborated by 2+ sources
SHH(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 232 →
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome sinoatrial node dysfunction and deafness
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Primary hypomagnesemia with hypocalciuria renal hypomagnesemia 2
1 gene
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1 of 1 corroborated by 2+ sources
FXYD2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Progressive contractures limb-girdle weakness muscle dystrophy syndrome tibial muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Progressive contractures limb-girdle weakness muscle dystrophy syndrome TTN-related myopathy, dominant-negative TTNsv
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Sensorineural hearing loss thrombocytopenia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
PROM1-related dominant retinopathy PROM1-related recessive retinopathy
1 gene
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PROM1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Prpp synthetase superactivity 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(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
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 →
congenital myasthenic syndrome 2A congenital myasthenic syndrome 2C
1 gene
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CHRNB1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital myotonia Myotonia congenita
1 gene
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1 of 1 corroborated by 2+ sources
CLCN1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Congenital phimosis
1 gene
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ITGA3(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ITGA3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital pectus carinatum Coronary artery dissection
1 gene
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FBN1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 52 →
Congenital phimosis epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ITGA3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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