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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
Hypercalciuria Kidney and ureter calculus
2 genes
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2 of 2 corroborated by 2+ sources
SLC34A1(2), CYP24A1(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. Cluster 262 →
Intracellular cobalamin metabolism disorder Neural tube defects, folate-sensitive
2 genes
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MTRR(1), MTR(1)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Congenital arteriovenous malformation Penile neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
HRAS(2), PIK3CA(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. Cluster 18 →
Congenital hemihypertrophy Congenital joint contractures
2 genes
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KIF1B(1), SH3TC2(1)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Benign neonatal epilepsy Malignant migrating partial seizures of infancy
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Acrofacial dysostosis Ellis-van creveld syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EVC(7), EVC2(8)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. Cluster 289 →
Anencephaly Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(2), MTRR(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. Cluster 121 →
Benign neonatal epilepsy Epilepsy of infancy with migrating focal seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(4), SCN2A(3)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Thrombasthenia Von willebrand disorder
2 genes
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1 of 2 corroborated by 2+ sources
ITGA2(1), ITGA2B(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Amyloidosis Splenomegaly
3 genes
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3 of 3 corroborated by 2+ sources
APP(2), PSEN1(2), APOE(2)
0.081 0.158 1.79e-6 1.01e-5 ✓ sig. —
46,xx sex reversal 46,xy sex reversal
2 genes
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2 of 2 corroborated by 2+ sources
NR5A1(2), SRY(2)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. Cluster 38 →
Congenital stenosis of aortic valve Varicose veins
2 genes
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ELN(1), MMP1(1)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. —
Constipation Nausea
2 genes
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POMC(1), OPRM1(1)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. —
Glucose-6-phosphate dehydrogenase deficiency Hyper-igm immunodeficiency syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(3), IKBKG(1)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. —
Hereditary bundle branch system defect Paroxysmal familial ventricular fibrillation
2 genes
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1 of 2 corroborated by 2+ sources
DSP(1), SCN5A(2)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. Cluster 4 →
Tubular aggregate myopathy Vacuolar myopathy
2 genes
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2 of 2 corroborated by 2+ sources
STIM1(4), CASQ1(3)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. Cluster 217 →
Chiari-frommel syndrome Disruptive impulse-control and conduct disorder
2 genes
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1 of 2 corroborated by 2+ sources
PRL(1), DRD2(2)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. Cluster 325 →
Christ-siemens-touraine syndrome Hypohidrotic ectodermal dysplasia
2 genes
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2 of 2 corroborated by 2+ sources
EDAR(3), EDARADD(3)
0.182 0.400 1.77e-6 9.96e-6 ✓ sig. Cluster 117 →
Congenital cardiomyopathy Postaxial polydactyly
2 genes
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ND5(1), ND4(1)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. Cluster 32 →
Brachydactyly Hemimelia of limb
2 genes
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2 of 2 corroborated by 2+ sources
NOG(5), HOXD13(6)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. —
Cushing syndrome Glucocorticoid-remediable aldosteronism
2 genes
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2 of 2 corroborated by 2+ sources
CYP11B2(2), CYP11B1(4)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. —
Cerebral small vessel disease Intracerebral hemorrhage
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(3), COL4A1(2)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. Cluster 198 →
Intracerebral hemorrhage Vascular leukoencephalopathy
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(3), COL4A1(3)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. Cluster 198 →
Congenital porencephaly Intracerebral hemorrhage
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(2), COL4A1(2)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. Cluster 198 →
Intracerebral hemorrhage Posttraumatic porencephalic cyst of brain
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(2), COL4A1(2)
0.091 1.000 1.77e-6 9.96e-6 ✓ sig. Cluster 198 →

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