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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
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Silver-russell syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDKN1C(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 199 →
Kennedy disease Prostatic intraepithelial neoplasia
1 gene
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1 of 1 corroborated by 2+ sources
AR(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 193 →
Krabbe disease due to saposin A deficiency Retinitis pigmentosa-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 118 →
LAMA5-related multisystemic syndrome Presynaptic congenital myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LAMA5(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
developmental and epileptic encephalopathy, 29 Trichothiodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
developmental and epileptic encephalopathy, 80 Hyperphosphatasia with intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGB(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 337 →
Developmental delay with facial dysmorphism syndrome Transposition of the great arteries
1 gene
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1 of 1 corroborated by 2+ sources
MED13L(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
diamond-blackfan anemia 6 Testicular hydrocele
1 gene
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1 of 1 corroborated by 2+ sources
RPL5(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 236 →
Diffuse idiopathic skeletal hyperostosis Short syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3R1(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Diffuse idiopathic skeletal hyperostosis PIK3R1-related immunodeficiency and SHORT syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3R1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Diffuse idiopathic skeletal hyperostosis immunodeficiency 122
1 gene
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1 of 1 corroborated by 2+ sources
POLD3(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
dilated cardiomyopathy 1W Short qt syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VCL(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Deglutition disorder Distal nebulin myopathy
1 gene
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NEB(1)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 51 →
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum Meier-gorlin syndrome
1 gene
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DONSON(1)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 171 →
Donohue syndrome Hyperinsulinemic hypoglycemia
1 gene
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1 of 1 corroborated by 2+ sources
INSR(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Dysbetalipoproteinemia Sleep disorder
1 gene
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1 of 1 corroborated by 2+ sources
APOE(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 177 →
Demyelinating diseases Dysgnathia complex
1 gene
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1 of 1 corroborated by 2+ sources
PRRX1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Early-onset epilepsy-intellectual disability-brain anomalies syndrome Hyperphosphatasia with intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGG(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency Hermansky-pudlak syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AP3D1(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Leopard syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 42 →
Arthrogryposis Dilatation of left cardiac ventricle
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Arthrogryposis dilated cardiomyopathy 1R
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Ataxia telangiectasia Hairy cell leukemia
1 gene
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1 of 1 corroborated by 2+ sources
BRAF(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Ataxia telangiectasia Middle ear cholesteatoma
1 gene
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IL2(1)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Ataxia telangiectasia Conjunctival telangiectasis
1 gene
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1 of 1 corroborated by 2+ sources
ATM(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 348 →

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