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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
arterial calcification, generalized, of infancy, 1 Cole disease
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 128 →
arterial calcification, generalized, of infancy, 1 Coronary medial sclerosis of infancy
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 128 →
arterial calcification, generalized, of infancy, 1 hypopigmentation-punctate palmoplantar keratoderma syndrome
1 gene
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ENPP1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 128 →
Arthrogryposis with anterior horn cell disease Congenital arthrogryposis with anterior horn cell disease
1 gene
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1 of 1 corroborated by 2+ sources
GLE1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Arts syndrome Prpp synthetase superactivity
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
Arts syndrome 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(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
Arts syndrome phosphoribosylpyrophosphate synthetase superactivity
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
Arts syndrome PRPS1 deficiency disorder
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
ASAH1-related sphingolipidosis Farber disease
1 gene
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1 of 1 corroborated by 2+ sources
ASAH1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
asphyxiating thoracic dystrophy 2 Beemer-langer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IFT80(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Asymmetric crying face association Cayler cardiofacial syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 145 →
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome Distal anoctaminopathy
1 gene
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ANO5(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 290 →
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome gnathodiaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
ANO5(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 290 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Boucher-neuhauser syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Ataxia-hypogonadism-choroidal dystrophy syndrome retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Ataxia-hypogonadism-choroidal dystrophy syndrome PNPLA6-related spastic paraplegia with or without ataxia
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
Ataxia, sensory, autosomal dominant Sensory ataxia
1 gene
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1 of 1 corroborated by 2+ sources
RNF170(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect Spastic ataxia of charlevoix-saguenay
1 gene
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1 of 1 corroborated by 2+ sources
SACS(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Ateleiotic dwarfism Isolated somatotropin deficiency
1 gene
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GH1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 82 →
Athabaskan brainstem dysgenesis Bosley-salih-alorainy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HOXA1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
ATM-related cancer predisposition Conjunctival telangiectasis
1 gene
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1 of 1 corroborated by 2+ sources
ATM(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 348 →
ATP1A3-associated neurological disorder Capos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 238 →
ATP1A3-associated neurological disorder Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A3(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 238 →

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