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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
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism 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 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism 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 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome PNPLA6-related spastic paraplegia with or without ataxia
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 →
Choroid plexus carcinoma Choroid plexus papilloma
1 gene
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1 of 1 corroborated by 2+ sources
TP53(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 3 →
Choroideremia-deafness-obesity syndrome Chromosome xq21 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 251 →
Choroideremia-deafness-obesity syndrome Xq21 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 251 →
Christianson syndrome Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A6(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 281 →
Chromosome 10q deletion syndrome Developmental delay with ataxia, hypotonia, and facial dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
EBF3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 323 →
Chromosome 10q deletion syndrome hypotonia, ataxia, and delayed development syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EBF3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 323 →
Chromosome 15q24 deletion syndrome SIN3A-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 343 →
Chromosome 17q23.1-q23.2 deletion syndrome 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 →
Chromosome 17q23.1-q23.2 deletion syndrome Epilepsy with myoclonic absence
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 124 →
Chromosome 17q23.1-q23.2 duplication syndrome Coxopodopatellar syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 24 →
Chromosome 17q23.1-q23.2 duplication syndrome Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 24 →
Chromosome 1q deletion syndrome Chromosome 1q43-q44 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB18(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Chromosome 22q11.2 deletion syndrome interstitial lung disease due to ABCA3 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ABCA3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 408 →
Chromosome 22q11.2 microduplication syndrome Conotruncal anomaly face syndrome
1 gene
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TBX1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 283 →
Chromosome 6q24-q25 deletion syndrome congenital heart defects, multiple types, 2
1 gene
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1 of 1 corroborated by 2+ sources
TAB2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 188 →
Chromosome 8p23.1 monosomy Congenital pulmonary valve atresia
1 gene
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GATA4(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 60 →
Chromosome 8p23.1 monosomy Testicular anomaly with congenital heart disease
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 60 →
Chromosome 8p23.1 monosomy GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 60 →
Chromosome xq21 deletion syndrome Xq21 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 251 →
Chromosome xq25 duplication syndrome Xq25 microduplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STAG2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Chromosome xq26.3 duplication syndrome X-linked acrogigantism due to xq26 microduplication
1 gene
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1 of 1 corroborated by 2+ sources
GPR101(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 82 →
Chromosome xq27.3-q28 duplication syndrome fragile x syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FMR1(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.