Shared-Gene Disease Pairs?

Disease pairs ranked by curated gene overlap — a data-driven way to spot diseases that aren't normally considered related but share a large number of underlying genes. Looking for groups of more than two? See Disease Clusters.

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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 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 43 →
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 147 →
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 68 →
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 68 →
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 →
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 12 →
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. —
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 2.25e-44 ✓ sig. Cluster 39 →
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. —
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 7.18e-45 ✓ sig. Cluster 12 →
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 29 →
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 →
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 26 →
Hypertension Major depressive disorder
321 genes
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117 of 321 corroborated by 2+ sources
CYP17A1(1), BPTF(1), CASZ1(1), RERE(1), COMT(1), ZFPM2(1), CAT(3), ATP2A2(2), SH2B3(1), TERT(2), AMPD3(1), ACE(2) +309 more
0.115 0.279 3.89e-47 1.90e-45 ✓ sig. —
Charcot-marie-tooth disease Distal hereditary motor neuropathy
26 genes
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25 of 26 corroborated by 2+ sources
SETX(4), SORD(7), TRPV4(6), SIGMAR1(3), BICD2(1), DCTN1(7), DYNC1H1(6), FIG4(7), NEFL(7), ATP7A(3), LMNA(5), BSCL2(6) +14 more
0.182 0.722 3.17e-47 1.55e-45 ✓ sig. Cluster 15 →
Microform holoprosencephaly Semilobar holoprosencephaly
15 genes
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15 of 15 corroborated by 2+ sources
FGF8(2), CDON(2), GLI2(2), SHH(2), PTCH1(2), SIX3(2), FGFR1(2), GAS1(2), ZIC2(2), DLL1(2), DISP1(2), CRIPTO(2) +3 more
0.750 0.938 2.65e-47 1.30e-45 ✓ sig. Cluster 96 →
Combined immunodeficiency disease Immunodeficiency
28 genes
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28 of 28 corroborated by 2+ sources
CARD11(7), ORAI1(4), RELB(6), ZAP70(7), IRF4(5), MSN(7), TFRC(4), MST1(2), TNFRSF4(7), BCL11B(4), IL6ST(4), STIM1(5) +16 more
0.179 0.636 1.17e-47 5.79e-46 ✓ sig. Cluster 10 →
Joubert syndrome Meckel-gruber syndrome
22 genes
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21 of 22 corroborated by 2+ sources
RPGRIP1(2), CC2D2A(5), RPGRIP1L(5), NPHP3(2), TMEM67(6), CEP290(6), TMEM138(6), TMEM216(6), TMEM231(5), TMEM237(6), KIAA0586(5), TCTN1(7) +10 more
0.314 0.667 9.10e-48 4.50e-46 ✓ sig. Cluster 8 →
Long qt syndrome Ventricular fibrillation
25 genes
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10 of 25 corroborated by 2+ sources
CACNB2(1), DSG2(1), JUP(1), KCNE2(7), PKP2(1), RBM20(1), TRPM4(1), DSP(1), DPP6(3), KCNJ2(2), CACNA1C(6), MYH6(1) +13 more
0.219 0.694 7.92e-48 3.92e-46 ✓ sig. Cluster 4 →
Cardiovascular disease Heart failure
88 genes
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34 of 88 corroborated by 2+ sources
CASZ1(1), ZFPM2(1), SH2B3(1), CACNA1D(1), ACE(3), ADRA1D(3), AGT(3), ALDH1A2(1), APOB(3), APOE(3), CACNB2(1), CRTC1(1) +76 more
0.108 0.204 5.25e-48 2.61e-46 ✓ sig. —
Transitional cell carcinoma Urinary bladder neoplasms
26 genes
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FGFR3(1), TP53(1), ARID1A(1), ESR2(1), KMT2C(1), TACC3(1), IGFBP3(1), TNF(1), PTGS2(1), CREBBP(1), CSF3(1), GPX1(1) +14 more
0.173 0.788 4.40e-48 2.19e-46 ✓ sig. Cluster 5 →
Distal hereditary motor neuropathy Distal spinal muscular atrophy
20 genes
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18 of 20 corroborated by 2+ sources
SETX(3), TRPV4(3), VRK1(3), SIGMAR1(4), DCTN1(7), DYNC1H1(2), NEFL(1), BSCL2(6), HSPB1(6), BAG3(4), PLEKHG5(3), GARS1(6) +8 more
0.417 0.645 2.69e-48 1.34e-46 ✓ sig. Cluster 15 →
Holoprosencephaly Semilobar holoprosencephaly
17 genes
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17 of 17 corroborated by 2+ sources
FGF8(3), CDON(6), GLI2(6), SHH(5), PTCH1(7), SIX3(6), FGFR1(3), GAS1(5), ZIC2(6), DLL1(3), STIL(3), STAG2(4) +5 more
0.548 0.944 2.18e-48 1.09e-46 ✓ sig. Cluster 96 →
Avascular necrosis of bone Osteonecrosis of medial femoral condyle
14 genes
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CAT(1), COL2A1(1), TRPV4(1), NOS3(1), F2(1), GSTT1(1), GSTM1(1), PLAT(1), F5(1), IL23R(1), ABCB1(1), MMP2(1) +2 more
0.933 1.000 2.08e-48 1.04e-46 ✓ sig. Cluster 21 →
Hypertrophic cardiomyopathy Long qt syndrome
42 genes
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27 of 42 corroborated by 2+ sources
BRAF(1), CACNB2(1), DSG2(1), JUP(1), PKP2(1), RBM20(3), TRPM4(1), POMC(2), DSP(2), KCNJ2(2), KCNJ5(7), CACNA1C(6) +30 more
0.132 0.412 2.03e-48 1.02e-46 ✓ sig. —

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