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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
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Elsahy-waters syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ELOVL4(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Congenital short bowel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Congenital isolated growth hormone deficiency Isolated somatotropin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 82 →
Congenital keratoglobus Microspherophakia
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital keratoglobus glaucoma 3, primary congenital, d
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital lipoid adrenal hyperplasia Toe syndactyly-telecanthus-anogenital and renal malformations syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STAR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital malformation syndromes predominantly involving limbs Waardenburg anophthalmia syndrome
1 gene
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SMOC1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 249 →
Congenital mesoblastic nephroma thrombocytopenia 5
1 gene
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1 of 1 corroborated by 2+ sources
ETV6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital methemoglobinemia Dihydrolipoamide dehydrogenase deficiency
1 gene
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CYB5R3(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital mitral valve atresia Intellectual developmental disorder seizures hypotonia skeletal
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 324 →
Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 326 →
Palmoplantar keratoderma with congenital alopecia Schwartz-lelek syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJA1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Testicular anomaly with congenital heart disease
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 60 →
Papa syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSTPIP1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Papillorenal syndrome Renal hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PAX2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Paramyotonia congenita Potassium-aggravated myotonia
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 163 →
Paramyotonia congenita SCN4A-related myopathy, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 163 →
Paresis Trismus
1 gene
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1 of 1 corroborated by 2+ sources
BCHE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 378 →
Cardiac tamponade Paresis
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dystonia
1 gene
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PRRT2(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 58 →
Paroxysmal ventricular fibrillation SCN5A-related cardiac rhythm disorder
1 gene
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1 of 1 corroborated by 2+ sources
SCN5A(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 129 →
Partial adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ADA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Partial atrioventricular canal defect Testicular anomaly with congenital heart disease
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 60 →
Patterson stevenson fontaine syndrome Triphalangeal thumb-polysyndactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMBR1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital aniridia PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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