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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Congenital ear anomaly Deafness
26 genes
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22 of 26 corroborated by 2+ sources
CEACAM16(3), MYO15A(3), OTOF(3), PCDH15(3), USH2A(1), TMC1(3), ADGRV1(1), SLC26A4(3), COL11A2(3), MYO6(3), CDH23(3), MYO7A(3) +14 more
0.146 0.839 4.02e-47 1.97e-45 ✓ sig. Cluster 20 →
Mood disorder Neurotic disorder
72 genes
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9 of 72 corroborated by 2+ sources
PAFAH1B1(1), KANSL1(1), RERE(1), ARHGAP15(1), CACNA1E(1), CAMTA1(1), CELF4(1), DCC(1), EMB(1), ERBB4(1), FOXP2(1), GABBR1(1) +60 more
0.109 0.242 6.27e-47 3.06e-45 ✓ sig. Cluster 2 →
Cutaneous squamous cell carcinoma Skin cancer
24 genes
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BNC2(1), FOXP1(1), HLA-DQA1(1), ICOS(1), TRPS1(1), WEE1(1), ZNF143(1), OCA2(1), RALY(1), IRF4(1), KRT5(1), BACH2(1) +12 more
0.245 0.632 8.43e-47 4.10e-45 ✓ sig. Cluster 23 →
Aortic aneurysm Thoracic aortic aneurysm and aortic dissection
23 genes
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19 of 23 corroborated by 2+ sources
SKI(2), FBN1(7), FBN2(3), PRKG1(8), SLC2A10(1), TGFB2(6), THSD4(5), FLNA(3), ELN(3), SMAD3(6), ACTA2(6), FOXE3(7) +11 more
0.284 0.561 1.48e-46 7.19e-45 ✓ sig. Cluster 43 →
Basal cell carcinoma Cancer
61 genes
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14 of 61 corroborated by 2+ sources
ANKRD11(1), TERT(2), TP53(3), ARHGEF10L(1), ASIP(2), BNC2(2), EPB41L1(1), FADS2(1), FAM76B(1), FARP1(2), FOXP1(1), HLA-C(1) +49 more
0.116 0.234 2.00e-46 9.69e-45 ✓ sig. —
Autoimmune thyroid disease Thyroid disease
29 genes
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5 of 29 corroborated by 2+ sources
SH2B3(1), FAM76B(1), HLA-DQA1(2), ICOS(1), INPP5B(1), PDE10A(1), SAMD5(1), SASH1(1), SPATA13(1), ATXN2(1), HLA-DQB1(2), BACH2(1) +17 more
0.172 0.547 4.67e-46 2.26e-44 ✓ sig. —
Biliary cholangitis Liver cirrhosis
46 genes
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43 of 46 corroborated by 2+ sources
HLA-DQA1(1), NOS3(2), NFE2L2(2), RELA(2), HLA-DQB1(2), VDR(1), ALB(2), HIF1A(2), ATG5(3), TGFB1(2), HLA-DPB1(1), CLEC16A(3) +34 more
0.126 0.313 7.88e-46 3.80e-44 ✓ sig. Cluster 285 →
Connective tissue disease Mixed connective tissue disease
22 genes
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HDAC4(1), FBN1(1), CDH4(1), MYRIP(1), PTPRN2(1), HHEX(1), PCLO(1), KCNMB2(1), SLC4A10(1), PTGIS(1), BASP1(1), SPOP(1) +10 more
0.183 0.917 7.99e-46 3.84e-44 ✓ sig. Cluster 133 →
Aplasia of the vermis Meckel-gruber syndrome
21 genes
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15 of 21 corroborated by 2+ sources
ATP6V0A2(1), CC2D2A(5), RPGRIP1L(5), NPHP3(2), TMEM67(6), CEP290(5), TMEM138(1), TMEM216(6), TMEM231(5), TMEM237(2), KIAA0586(1), TCTN1(3) +9 more
0.313 0.636 1.08e-45 5.18e-44 ✓ sig. Cluster 8 →
Bone fragility with contractures, arterial rupture, and deafness Desbuquois syndrome
38 genes
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1 of 38 corroborated by 2+ sources
ALPL(1), BMP1(1), CCDC134(1), GORAB(1), NBAS(1), SERPINF1(1), TENT5A(1), XYLT1(3), COL1A1(1), SLC10A7(1), PLOD2(1), FKBP10(1) +26 more
0.066 0.776 1.92e-45 9.16e-44 ✓ sig. Cluster 66 →
Desbuquois syndrome Osteoporosis-pseudoglioma syndrome
38 genes
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2 of 38 corroborated by 2+ sources
ALPL(1), BMP1(1), CCDC134(1), GORAB(1), NBAS(1), SERPINF1(1), TENT5A(1), XYLT1(3), COL1A1(1), SLC10A7(1), PLOD2(1), FKBP10(1) +26 more
0.066 0.776 1.92e-45 9.16e-44 ✓ sig. Cluster 66 →
Congestive ophthalmopathy Myopathic ophthalmopathy
13 genes
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SCD(1), ICAM1(1), IL10(1), IL2(1), TNF(1), PTGS2(1), IL3(1), CTLA4(1), IL23R(1), PTPN22(1), IL1RN(1), TSHR(1) +1 more
0.929 1.000 2.29e-45 1.09e-43 ✓ sig. Cluster 149 →
Congenital cataract Nuclear cataract
18 genes
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18 of 18 corroborated by 2+ sources
CRYBB2(3), CRYAA(4), EPHA2(3), NHS(3), GJA8(4), CRYGC(4), WFS1(3), CRYBB1(4), CRYAB(3), UNC45B(3), CRYBB3(4), CRYGD(3) +6 more
0.295 1.000 2.53e-45 1.20e-43 ✓ sig. Cluster 44 →
Epilepsy Partial epilepsy
30 genes
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7 of 30 corroborated by 2+ sources
CACNA1H(1), CUX2(1), GABRA2(1), GRM3(1), OGA(1), PCDH7(1), PTPRD(1), RPH3A(1), SCN8A(2), TRIM36(1), ALDH2(1), CDKL5(2) +18 more
0.121 0.682 3.50e-45 1.66e-43 ✓ sig. —
Epilepsy Intellectual developmental disorder
81 genes
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63 of 81 corroborated by 2+ sources
FOXG1(2), UBE3A(2), CHRNA7(2), ANKRD11(2), HNRNPU(2), WWOX(1), ARID1B(2), AUTS2(4), CHD2(2), CNTNAP2(2), CPA6(2), GRIA1(5) +69 more
0.084 0.348 3.70e-45 1.75e-43 ✓ sig. —
Muscle eye brain disease Walker-warburg syndrome
14 genes
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14 of 14 corroborated by 2+ sources
DAG1(3), GMPPB(4), LARGE1(3), CRPPA(3), POMGNT2(3), POMT1(4), POMT2(4), POMGNT1(4), FKRP(4), FKTN(4), B3GALNT2(3), B4GAT1(3) +2 more
0.778 0.933 3.75e-45 1.76e-43 ✓ sig. Cluster 58 →
Microform holoprosencephaly Syntelencephaly
14 genes
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14 of 14 corroborated by 2+ sources
FGF8(2), CDON(2), GLI2(2), SHH(2), PTCH1(2), SIX3(2), GAS1(2), ZIC2(2), DLL1(2), DISP1(2), CRIPTO(2), FOXH1(2) +2 more
0.778 0.933 3.75e-45 1.76e-43 ✓ sig. Cluster 96 →
Microform holoprosencephaly Septopreoptic holoprosencephaly
14 genes
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14 of 14 corroborated by 2+ sources
FGF8(2), CDON(2), GLI2(2), SHH(2), PTCH1(2), SIX3(2), GAS1(2), ZIC2(2), DLL1(2), DISP1(2), CRIPTO(2), FOXH1(2) +2 more
0.778 0.933 3.75e-45 1.76e-43 ✓ sig. Cluster 96 →
Ciliopathy Joubert syndrome
25 genes
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25 of 25 corroborated by 2+ sources
ZNF423(4), CC2D2A(6), RPGRIP1L(6), TMEM67(7), SUFU(6), TMEM138(7), TMEM216(7), TMEM231(6), CEP120(7), TBC1D32(3), CEP41(6), IFT74(6) +13 more
0.238 0.431 5.15e-45 2.41e-43 ✓ sig. Cluster 8 →
Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy
29 genes
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18 of 29 corroborated by 2+ sources
ACTN2(3), DMD(1), DSG2(1), JUP(1), MYPN(2), PKP2(1), RBM20(3), DSP(2), MYH6(4), RYR2(2), SCN5A(1), LDB3(1) +17 more
0.109 0.763 7.15e-45 3.34e-43 ✓ sig. Cluster 3 →
Calcinosis Heart valve disease
21 genes
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21 of 21 corroborated by 2+ sources
NOTCH1(2), COL18A1(2), SPP1(2), CASP3(2), IL1B(2), JAK2(2), CCL2(2), COL1A1(2), TIMP1(2), FCGR1A(2), IL18(2), LCN2(2) +9 more
0.313 0.512 1.09e-44 5.07e-43 ✓ sig. Cluster 370 →
Congenital hypoplasia of part of brain Lissencephaly
17 genes
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CASK(1), ARL3(1), TMEM216(1), TMEM237(1), SEPSECS(1), KIAA0586(1), KIAA0753(1), CHMP1A(1), IFT74(1), TUBB3(1), AMPD2(1), INPP5E(1) +5 more
0.333 1.000 2.30e-44 1.07e-42 ✓ sig. Cluster 109 →
Congenital brain malformation Lissencephaly
17 genes
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CASK(1), ARL3(1), TMEM216(1), TMEM237(1), SEPSECS(1), KIAA0586(1), KIAA0753(1), CHMP1A(1), IFT74(1), TUBB3(1), AMPD2(1), INPP5E(1) +5 more
0.333 1.000 2.30e-44 1.07e-42 ✓ sig. Cluster 109 →
Lissencephaly Microgyria
17 genes
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CASK(1), ARL3(1), TMEM216(1), TMEM237(1), SEPSECS(1), KIAA0586(1), KIAA0753(1), CHMP1A(1), IFT74(1), TUBB3(1), AMPD2(1), INPP5E(1) +5 more
0.333 1.000 2.30e-44 1.07e-42 ✓ sig. Cluster 109 →
Craniofacial abnormalities Desbuquois syndrome
59 genes
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57 of 59 corroborated by 2+ sources
HSPG2(2), SKI(2), FGF8(2), COLEC11(1), SOX9(2), FGD1(2), SLC26A2(2), COL2A1(2), BMPR1B(2), LTBP3(2), ACTB(2), NOTCH1(2) +47 more
0.089 0.378 2.76e-44 1.28e-42 ✓ sig. —

Showing 25 of 20825 pairs, sorted by significance (ascending). Click a column header to sort.