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
Leber congenital amaurosis Optic atrophy
36 genes
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11 of 36 corroborated by 2+ sources
ABCA4(1), CNGB3(1), PRPH2(2), ALMS1(1), NBAS(1), NPHP4(1), USH2A(1), CRB1(6), GUCY2D(6), LCA5(7), PROM1(1), RP1(1) +24 more
0.165 0.500 2.66e-51 1.43e-49 ✓ sig. Cluster 7 →
Septopreoptic holoprosencephaly Syntelencephaly
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), GAS1(2), ZIC2(2), DLL1(2), STIL(2), DISP1(2), CRIPTO(2) +3 more
0.938 1.000 2.03e-51 1.09e-49 ✓ sig. Cluster 96 →
Breast neoplasms Prostatic neoplasms
113 genes
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3 of 113 corroborated by 2+ sources
CYP17A1(1), COMT(1), MAP3K1(1), PTEN(1), CHEK2(2), TERT(1), TP53(1), AKT2(1), ARID1A(1), ATP7B(1), CST6(1), EGFR(1) +101 more
0.110 0.219 8.25e-52 4.45e-50 ✓ sig. Cluster 5 →
Obesity Schizophrenia
402 genes
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185 of 402 corroborated by 2+ sources
SOX5(2), RAI1(3), DPYD(3), RERE(1), COMT(3), CUL9(1), WWOX(2), PDE4D(2), RBPJ(1), ABCA1(1), ABT1(1), ADGRL2(1) +390 more
0.121 0.337 3.19e-52 1.72e-50 ✓ sig. Cluster 2 →
Non-hodgkins lymphoma Non-melanoma skin carcinoma
43 genes
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ANKRD11(1), TP53(1), ASIP(1), BNC2(1), EPB41L1(1), FARP1(1), FOXP1(1), HLA-DQA1(1), HLA-DQB3(1), HLA-DRB1(1), OR5V1(1), RHOU(1) +31 more
0.164 0.319 2.83e-52 1.53e-50 ✓ sig. —
Developmental disability Intellectual developmental disorder
71 genes
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37 of 71 corroborated by 2+ sources
CHD8(3), UBE3A(1), ANKRD11(1), RAI1(2), SHANK3(2), PTEN(2), ADNP(1), ATRX(1), ARID1B(1), AUTS2(3), DEAF1(3), FBXO11(1) +59 more
0.081 0.497 1.57e-52 8.52e-51 ✓ sig. Cluster 6 →
Intellectual developmental disorder, x-linked X-linked complex neurodevelopmental disorder
26 genes
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26 of 26 corroborated by 2+ sources
FRMPD4(6), NLGN4X(2), GRIA3(5), ARX(6), THOC2(4), PTCHD1(2), CNKSR2(6), AP1S2(3), IL1RAPL1(5), SYN1(5), FTSJ1(6), IQSEC2(6) +14 more
0.263 0.743 7.74e-53 4.22e-51 ✓ sig. Cluster 115 →
Hydranencephaly 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
0.739 1.000 6.15e-53 3.36e-51 ✓ sig. Cluster 110 →
Congenital brain malformation Hydranencephaly
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
0.739 1.000 6.15e-53 3.36e-51 ✓ sig. Cluster 110 →
Congenital hypoplasia of part of brain Hydranencephaly
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
0.739 1.000 6.15e-53 3.36e-51 ✓ sig. Cluster 110 →
Cancer Diabetes mellitus
64 genes
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5 of 64 corroborated by 2+ sources
HNF1B(2), RREB1(1), ANKRD26(1), ALDH1A2(1), ANKRD31(1), APOB(1), APOC1(1), ASIP(2), BAZ1B(1), BCL3(1), EBF1(1), FADS1(1) +52 more
0.130 0.245 4.27e-53 2.35e-51 ✓ sig. —
Melanoma Skin neoplasms
59 genes
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15 of 59 corroborated by 2+ sources
NOTCH2(2), TERT(5), TP53(2), TPCN2(1), ASIP(2), BNC2(1), ERBB4(1), FOXP1(1), HERC2(1), HLA-DQA1(1), HLA-DRB1(1), ICOS(1) +47 more
0.113 0.407 2.16e-53 1.19e-51 ✓ sig. Cluster 29 →
Genetic steroid-resistant nephrotic syndrome Nephrotic syndrome
29 genes
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20 of 29 corroborated by 2+ sources
WT1(4), NUP107(4), COL4A3(1), ACTN4(1), ARHGAP24(1), FAT1(1), MYO1E(1), NUP160(5), NUP85(3), PAX2(1), PTPRO(4), TRPC6(1) +17 more
0.169 0.853 1.80e-53 9.96e-52 ✓ sig. Cluster 30 →
Depression Mood disorder
66 genes
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9 of 66 corroborated by 2+ sources
COMT(1), DAO(1), DISC1(1), FOXP2(2), HTR1A(1), HTR3A(1), LSAMP(2), NTF3(1), NTRK2(1), NTRK3(1), PROK2(1), RELN(2) +54 more
0.129 0.237 1.74e-53 9.68e-52 ✓ sig. Cluster 2 →
Jeune thoracic dystrophy Short-rib thoracic dysplasia
20 genes
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19 of 20 corroborated by 2+ sources
IFT81(5), NEK1(4), IFT43(3), IFT80(2), CEP120(3), DYNC2H1(2), DYNC2I1(4), DYNC2I2(5), DYNC2LI1(4), DYNLT2B(4), IFT140(3), IFT172(4) +8 more
0.541 0.870 4.44e-54 2.47e-52 ✓ sig. Cluster 22 →
Myositis Systemic sclerosis
33 genes
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7 of 33 corroborated by 2+ sources
DGKQ(1), HLA-DQA1(2), HLA-DRA(1), HLA-DRB1(2), TNIP1(2), NCF2(1), DRD4(1), HLA-DQB1(2), ATG5(1), IL12RB2(1), IRF5(2), PHTF1(1) +21 more
0.210 0.541 4.07e-54 2.27e-52 ✓ sig. Cluster 25 →
Cardiovascular disease Myocardial infarction
103 genes
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32 of 103 corroborated by 2+ sources
PRDM16(1), ZFPM2(1), SH2B3(3), ABCG8(1), ACE(3), AGT(3), APOB(3), APOE(3), BCAS3(1), C1GALT1(1), CDH13(1), CSK(1) +91 more
0.113 0.238 2.87e-54 1.61e-52 ✓ sig. Cluster 78 →
Short rib dysplasia-polydactyly syndrome Short-rib thoracic dysplasia
19 genes
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19 of 19 corroborated by 2+ sources
IFT81(5), NEK1(6), IFT43(3), IFT80(3), CEP120(4), DYNC2H1(5), DYNC2I1(7), DYNC2I2(7), DYNC2LI1(5), DYNLT2B(4), IFT140(4), IFT172(4) +7 more
0.655 0.826 1.27e-54 7.11e-53 ✓ sig. Cluster 22 →
Metabolic syndrome Obesity
268 genes
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73 of 268 corroborated by 2+ sources
SOX5(1), DPYD(3), RERE(1), COMT(2), INS(2), GNAT2(1), PDE4D(1), RBPJ(1), ABCA1(2), ABCG8(2), ADGRL2(1), AGAP1(1) +256 more
0.120 0.224 1.01e-54 5.67e-53 ✓ sig. Cluster 2 →
Cone-rod dystrophy Optic atrophy
38 genes
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18 of 38 corroborated by 2+ sources
ABCA4(7), CNGA3(3), CNGB3(1), PDE6C(1), PRPH2(4), CACNA1F(2), ALMS1(1), USH2A(1), CRB1(1), GUCY2D(5), PROM1(6), RPGRIP1(6) +26 more
0.174 0.514 9.09e-55 5.13e-53 ✓ sig. Cluster 7 →
Developmental and epileptic encephalopathy Epilepsy
57 genes
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54 of 57 corroborated by 2+ sources
FOXG1(3), UBE3A(2), GABRD(3), HNRNPU(4), WWOX(6), ATP1A2(6), ATP1A3(5), CELSR1(2), CHD2(5), CNTNAP2(3), CUX2(6), GABRA2(6) +45 more
0.144 0.259 4.92e-55 2.78e-53 ✓ sig. —
Diabetes mellitus Diabetic neuropathy
63 genes
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17 of 63 corroborated by 2+ sources
INS(2), CAT(2), NOTCH2(1), ANKH(1), ASIP(1), CDKAL1(2), HLA-DQA1(1), HMG20A(1), JAZF1(1), MACF1(1), MACIR(1), NRXN3(1) +51 more
0.135 0.269 4.83e-55 2.74e-53 ✓ sig. Cluster 73 →
Male infertility single gene azoospermia Spermatogenic failure
38 genes
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38 of 38 corroborated by 2+ sources
NR5A1(6), DMRT1(2), KLHL10(6), STAG3(5), XRCC2(6), SPAG17(6), C14orf39(5), RPL10L(5), MSH5(5), FANCM(5), TDRD9(5), DNHD1(5) +26 more
0.207 0.355 1.04e-55 5.93e-54 ✓ sig. Cluster 31 →
Arrhythmogenic right ventricular cardiomyopathy Left ventricular noncompaction cardiomyopathy
25 genes
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12 of 25 corroborated by 2+ sources
ACTN2(1), CTNNA3(7), DMD(1), DSG2(6), JUP(5), PKP2(7), RBM20(1), DSP(4), MYH6(1), RYR2(3), SCN5A(3), LDB3(2) +13 more
0.379 0.658 8.23e-56 4.69e-54 ✓ sig. Cluster 4 →
Congenital neurologic anomalies Intellectual developmental disorder
67 genes
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21 of 67 corroborated by 2+ sources
FOXG1(2), ANKRD11(1), WWOX(1), FGD1(1), ACTB(1), PTEN(2), ABCD1(1), ALDH18A1(1), ATRX(1), ANK3(5), AP4M1(2), ARSA(1) +55 more
0.078 0.583 8.02e-56 4.59e-54 ✓ sig. Cluster 6 →

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