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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
leukodystrophy, hypomyelinating, 14 Long qt syndrome
1 gene
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1 of 1 corroborated by 2+ sources
UFM1(2)
0.010 1.000 6.62e-3 7.89e-3 ✓ sig. —
Cohen syndrome Long qt syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VPS13B(7)
0.010 1.000 6.62e-3 7.89e-3 ✓ sig. —
combined immunodeficiency due to LRBA deficiency Female infertility
1 gene
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1 of 1 corroborated by 2+ sources
LRBA(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Congenital hypogonadotropic hypogonadism Female infertility
1 gene
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1 of 1 corroborated by 2+ sources
EMX2(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Anovulation Female infertility
1 gene
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1 of 1 corroborated by 2+ sources
NR5A2(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility immunodeficiency-centromeric instability-facial anomalies syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3B(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility Isolated follicle-stimulating hormone deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FSHB(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility NR2F2 related multiple congenital anomalies/dysmorphic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NR2F2(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility hand-foot-genital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HOXA13(3)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDC42(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility radioulnar synostosis with amegakaryocytic thrombocytopenia 1
1 gene
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1 of 1 corroborated by 2+ sources
HOXA11(3)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Female infertility Uterine bilocularis
1 gene
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1 of 1 corroborated by 2+ sources
HOXA13(2)
0.010 1.000 6.69e-3 7.96e-3 ✓ sig. —
Cryptospermia Hydrocephalus
1 gene
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TRIM71(1)
0.033 0.250 6.74e-3 8.02e-3 ✓ sig. Cluster 293 →
Cortisone reductase deficiency Hyperglycemia
1 gene
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1 of 1 corroborated by 2+ sources
HSD11B1(5)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Arrhythmogenic right ventricular cardiomyopathy Genetic recurrent myoglobinuria
1 gene
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1 of 1 corroborated by 2+ sources
OBSCN(2)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Arrhythmogenic right ventricular cardiomyopathy Rh isoimmunization
1 gene
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RSRP1(1)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Infantile liver failure Liver failure
1 gene
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1 of 1 corroborated by 2+ sources
TRMU(4)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Congenital cataract hearing loss developmental delay syndrome Liver failure
1 gene
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1 of 1 corroborated by 2+ sources
GFER(4)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Aortic valve stenosis Retinopathy
1 gene
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ANKRD7(1)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Benign recurrent intrahepatic cholestasis Conduct disorder
1 gene
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1 of 1 corroborated by 2+ sources
ATP8B1(3)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
Arrhythmogenic right ventricular cardiomyopathy Hemolytic disease of fetus and newborn
1 gene
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RSRP1(1)
0.019 0.500 6.74e-3 8.02e-3 ✓ sig. —
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Spinocerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ASNS(2)
0.010 1.000 6.75e-3 8.03e-3 ✓ sig. —
Neutropenia, nonimmune chronic idiopathic, adult Spinocerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
GFI1(3)
0.010 1.000 6.75e-3 8.03e-3 ✓ sig. —
Cerebelloparenchymal disorder Spinocerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
PMPCA(5)
0.010 1.000 6.75e-3 8.03e-3 ✓ sig. —
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Spinocerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
TPP1(6)
0.010 1.000 6.75e-3 8.03e-3 ✓ sig. —

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