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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
Bouillaud’s disease Uveomeningoencephalitic syndrome
3 genes
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0.375 1.000 5.75e-11 5.86e-10 ✓ sig. Cluster 1 →
Hypoalphalipoproteinemia Hypobetalipoproteinemia
3 genes
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2 of 3 corroborated by 2+ sources
APOB(6), PCSK9(1), ANGPTL3(6)
0.375 1.000 5.75e-11 5.86e-10 ✓ sig. Cluster 140 →
Hypocalcemic vitamin d-dependent rickets Vitamin d dependent rickets
3 genes
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3 of 3 corroborated by 2+ sources
VDR(6), CYP27B1(7), CYP2R1(7)
0.375 1.000 5.75e-11 5.86e-10 ✓ sig. Cluster 396 →
Clubfoot Congenital clubfoot
4 genes
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4 of 4 corroborated by 2+ sources
CHST14(2), MTHFR(2), PITX1(6), LMX1B(2)
0.154 0.667 5.66e-11 5.79e-10 ✓ sig. Cluster 24 →
Anophthalmia/microphthalmia-esophageal atresia syndrome Nystagmus
6 genes
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4 of 6 corroborated by 2+ sources
TFAP2A(2), ELP4(1), PAX6(2), SIX6(2), C14orf39(1), OTX2(2)
0.095 0.240 5.61e-11 5.74e-10 ✓ sig. —
Latent autoimmune diabetes in adults Myasthenia gravis
5 genes
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4 of 5 corroborated by 2+ sources
HLA-DQA1(2), ATXN2(1), HLA-DQB1(2), CTLA4(2), PTPN22(2)
0.109 0.417 5.45e-11 5.58e-10 ✓ sig. Cluster 1 →
Aniridia Anterior segment mesenchymal dysgenesis
4 genes
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4 of 4 corroborated by 2+ sources
FOXC1(2), FOXD3(2), PAX6(4), PITX2(2)
0.200 0.444 5.37e-11 5.50e-10 ✓ sig. —
Cleft palate and bilateral cleft lip Optic neuropathy
4 genes
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ND1(1), ATP6(1), ATP8(1), ND4(1)
0.200 0.444 5.37e-11 5.50e-10 ✓ sig. Cluster 32 →
Aneurysm Large artery stroke
7 genes
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LRP1(1), CHRNB4(1), CELSR2(1), LPA(1), MMP13(1), PSRC1(1), ZPR1(1)
0.071 0.259 5.32e-11 5.46e-10 ✓ sig. —
Myocardial infarction Venous thromboembolism
41 genes
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11 of 41 corroborated by 2+ sources
ZFPM2(1), SH2B3(3), SPI1(1), ADGRL2(1), CUX2(1), DGKB(1), FNBP4(1), IL6R(1), KALRN(1), NUP160(1), PLCG2(1), SERPINE1(2) +29 more
0.046 0.120 5.12e-11 5.26e-10 ✓ sig. Cluster 78 →
Aortic valve disease Bicuspid aortic valve
6 genes
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6 of 6 corroborated by 2+ sources
NOTCH1(5), ROBO4(6), GATA5(2), MGP(2), SMAD6(6), NKX2-5(2)
0.067 0.429 5.10e-11 5.23e-10 ✓ sig. —
Mitochondrial dna depletion syndrome Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
4 genes
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2 of 4 corroborated by 2+ sources
POLG(6), TWNK(6), POLGARF(1), FANCI(1)
0.129 0.800 5.07e-11 5.20e-10 ✓ sig. Cluster 97 →
Lissencephaly Microcephaly
9 genes
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9 of 9 corroborated by 2+ sources
FOXG1(2), TUBG1(3), DYNC1H1(2), NBN(2), CASK(2), NDE1(6), ASPM(5), CPAP(6), TUBA1A(5)
0.061 0.180 4.87e-11 5.00e-10 ✓ sig. —
Sebaceous gland disease Seborrheic keratosis
5 genes
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RALY(1), IRF4(1), TYR(1), DEF8(1), SLC45A2(1)
0.122 0.357 4.66e-11 4.79e-10 ✓ sig. —
Eye disease Hyperopia
10 genes
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RBFOX1(1), SHISA6(1), KCNQ5(1), PRSS56(1), C14orf39(1), RASGEF1B(1), LAMA2(1), GJD2(1), RDH5(1), RGR(1)
0.061 0.127 4.49e-11 4.61e-10 ✓ sig. —
Hypertrophy Pulmonary fibrosis
9 genes
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9 of 9 corroborated by 2+ sources
ACE(2), AGT(2), CSF3(2), COL3A1(2), FN1(2), EDN1(2), CMA1(2), MTOR(2), TGFA(2)
0.061 0.184 4.38e-11 4.50e-10 ✓ sig. —
Hashimoto disease Myasthenia gravis
6 genes
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4 of 6 corroborated by 2+ sources
FAM76B(1), HLA-DQA1(2), HLA-DRB1(2), ATXN2(1), CTLA4(3), PTPN22(2)
0.100 0.222 4.26e-11 4.38e-10 ✓ sig. —
Febrile convulsion Rolandic epilepsy
6 genes
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2 of 6 corroborated by 2+ sources
CPA6(5), GABRG2(5), SCN1A(1), SCN1B(1), SCN2A(1), SCN9A(1)
0.094 0.273 4.18e-11 4.30e-10 ✓ sig. Cluster 47 →
Pancreatic neoplasms Renal cell carcinoma
13 genes
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HNF1B(1), PTEN(1), TP53(1), INPP4B(1), SOD2(1), PTGS2(1), BSG(1), IFNA2(1), ALOX5(1), TNFSF10(1), ALOX12B(1), TGM2(1) +1 more
0.053 0.111 4.16e-11 4.29e-10 ✓ sig. Cluster 5 →
Asbestosis Cystic fibrosis
6 genes
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4 of 6 corroborated by 2+ sources
SERPINA1(3), GSTT1(2), IL1B(2), TNF(2), EPHX1(1), GSTM1(1)
0.081 0.353 3.97e-11 4.10e-10 ✓ sig. —
Bronchiectasis Cystic fibrosis
6 genes
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6 of 6 corroborated by 2+ sources
SERPINA1(3), TNF(2), SCNN1A(6), CFTR(7), SCNN1B(6), SCNN1G(5)
0.081 0.353 3.97e-11 4.10e-10 ✓ sig. —
Bullous pemphigoid Henoch schoenlein purpura
5 genes
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3 of 5 corroborated by 2+ sources
0.135 0.278 3.95e-11 4.07e-10 ✓ sig. Cluster 1 →
Intrahepatic cholestasis Progressive intrahepatic cholestasis
4 genes
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4 of 4 corroborated by 2+ sources
ATP8B1(4), TJP2(2), ABCB11(3), ABCB4(5)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 319 →
Maturity-onset diabetes of the young Transient neonatal diabetes mellitus
4 genes
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4 of 4 corroborated by 2+ sources
INS(3), ABCC8(6), KCNJ11(5), GCK(3)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 36 →
Hypercalcemia Hypercalciuria
4 genes
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4 of 4 corroborated by 2+ sources
PTH(2), KL(2), SLC34A1(2), CYP24A1(2)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 262 →

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