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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
Chromosome xq21 deletion syndrome Hearing loss with stapes fixation
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Chronic pain Erythromelalgia
1 gene
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1 of 1 corroborated by 2+ sources
SCN9A(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 164 →
Chudley-mccullough syndrome Neonatal anemia
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 400 →
Chudley-mccullough syndrome Perinatal hemolytic anemia
1 gene
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SPTB(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 400 →
ciliary dyskinesia, primary, 44 Pericardium disorder
1 gene
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1 of 1 corroborated by 2+ sources
NEK10(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 278 →
Citrin deficiency Citrullinemia
1 gene
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1 of 1 corroborated by 2+ sources
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 367 →
Citrullinemia ornithine translocase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 367 →
Cleft palate psychomotor retardation distinctive facial features Primary bilateral macronodular adrenal hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
KDM1A(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 409 →
Clonal cytopenia of undetermined significance hereditary thrombocytopenia and hematologic cancer predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RUNX1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Clonal cytopenia of undetermined significance Microcephalic dwarfism
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 268 →
Clonal cytopenia of undetermined significance heyn-sproul-jackson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 268 →
Clonal cytopenia of undetermined significance Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 268 →
Clouston syndrome Keratitis-ichthyosis-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB6(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 210 →
Clouston syndrome Hearing loss with stapes fixation
1 gene
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1 of 1 corroborated by 2+ sources
GJB6(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 210 →
Clouston syndrome X-linked hearing loss with perilymphatic gusher
1 gene
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1 of 1 corroborated by 2+ sources
GJB6(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 210 →
long chain 3-hydroxyacyl-coa dehydrogenase deficiency Trifunctional protein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HADHA(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
LZTR1-related schwannomatosis Schwannomatosis
1 gene
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1 of 1 corroborated by 2+ sources
LZTR1(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Macronodular adrenal hyperplasia Primary bilateral macronodular adrenal hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
ARMC5(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 409 →
Malignant hypertension Steroid 17-alpha-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Malignant hypertension renal tubular dysgenesis of genetic origin
1 gene
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1 of 1 corroborated by 2+ sources
REN(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 95 →
Malnutrition Microvascular angina
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
homocystinuria due to methylene tetrahydrofolate reductase deficiency Malnutrition
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Malnutrition methylcobalamin deficiency type cblG
1 gene
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1 of 1 corroborated by 2+ sources
MTR(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 121 →
Mandibuloacral dysostosis Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 65 →
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 65 →

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