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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
histidinemia Keratinocyte carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
HAL(2)
0.013 1.000 5.00e-3 6.13e-3 ✓ sig. Cluster 29 →
Amphetamine or sympathomimetic abuse PDE6C-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6C(3)
0.013 1.000 5.00e-3 6.13e-3 ✓ sig. —
Keratinocyte carcinoma progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A17(2)
0.013 1.000 5.00e-3 6.13e-3 ✓ sig. Cluster 29 →
Chromosome 20q11-q12 deletion syndrome Keratinocyte carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
EPB41L1(3)
0.013 1.000 5.00e-3 6.13e-3 ✓ sig. Cluster 29 →
Choroidal melanoma Neuropathy, ataxia, and retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
TDP1(2)
0.053 0.167 5.06e-3 6.20e-3 ✓ sig. —
Adams-oliver syndrome Congenital abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH1(4)
0.053 0.167 5.06e-3 6.20e-3 ✓ sig. —
1p36 deletion syndrome Anal polyp
1 gene
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1 of 1 corroborated by 2+ sources
CASZ1(3)
0.053 0.167 5.06e-3 6.20e-3 ✓ sig. —
Leukodystrophy Tay-sachs disease
1 gene
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1 of 1 corroborated by 2+ sources
HEXA(7)
0.034 0.333 5.06e-3 6.20e-3 ✓ sig. —
Amino acid metabolism disorder Citrullinemia
1 gene
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0.034 0.333 5.06e-3 6.20e-3 ✓ sig. —
Dyskinesia Genetic neurodegenerative disease
1 gene
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KIF5A(1)
0.034 0.333 5.06e-3 6.20e-3 ✓ sig. —
Angiocentric glioma Osteonecrosis
1 gene
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1 of 1 corroborated by 2+ sources
QKI(2)
0.024 0.500 5.06e-3 6.20e-3 ✓ sig. —
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Large artery stroke
1 gene
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1 of 1 corroborated by 2+ sources
ZPR1(4)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Large artery stroke leukodystrophy, hypomyelinating, 25
1 gene
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1 of 1 corroborated by 2+ sources
TMEM163(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Large artery stroke lysosomal acid lipase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LIPA(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Cholesterol ester storage disease Large artery stroke
1 gene
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1 of 1 corroborated by 2+ sources
LIPA(6)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Chondrodysplasia-difference of sex development syndrome Large artery stroke
1 gene
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1 of 1 corroborated by 2+ sources
HHAT(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Chondrodysplasia-pseudohypohermaphroditism syndrome Large artery stroke
1 gene
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1 of 1 corroborated by 2+ sources
HHAT(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Large artery stroke spondyloepiphyseal dysplasia, kondo-fu type
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS1(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Stevens-johnson syndrome systemic lupus erythematosus related to C1QA
1 gene
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1 of 1 corroborated by 2+ sources
C1QA(3)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
primrose syndrome Stevens-johnson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
hypomagnesemia, seizures, and intellectual disability 1 Large artery stroke
1 gene
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1 of 1 corroborated by 2+ sources
CNNM2(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Large artery stroke Tetany
1 gene
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1 of 1 corroborated by 2+ sources
CNNM2(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Large artery stroke TTLL5-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTLL5(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Large artery stroke Wolman disease
1 gene
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1 of 1 corroborated by 2+ sources
LIPA(5)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —
Intellectual developmental disorder cataracts myopathy Stevens-johnson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.013 1.000 5.07e-3 6.20e-3 ✓ sig. —

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