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
Distal hereditary motor neuropathy Hereditary motor and sensory neuropathies
18 genes
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13 of 18 corroborated by 2+ sources
SETX(3), TRPV4(4), DCTN1(7), DYNC1H1(2), FIG4(1), NEFL(1), ATP7A(2), LMNA(1), BSCL2(6), HSPB1(6), PLEKHG5(3), GARS1(6) +6 more
0.212 0.500 1.61e-34 5.70e-33 ✓ sig. Cluster 15 →
Catecholaminergic polymorphic ventricular tachycardia Polymorphic catecholaminergic ventricular tachycardia
12 genes
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10 of 12 corroborated by 2+ sources
PKP2(2), CALM1(7), KCNJ2(3), TECRL(7), CALM2(4), CALM3(4), CASQ2(7), RYR2(7), SCN5A(1), TRDN(6), MYBPC3(1), ANK2(3)
0.500 0.800 1.55e-34 5.50e-33 ✓ sig. Cluster 4 →
Congenital neurologic anomalies Global developmental delay
39 genes
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FOXG1(1), ANKRD11(1), WWOX(1), PTEN(1), RNASEH2B(1), ATRX(1), AP4M1(1), CACNA1A(1), GALC(1), TSEN54(1), DYNC1H1(1), CREBBP(1) +27 more
0.087 0.339 1.40e-34 4.98e-33 ✓ sig. Cluster 6 →
Kidney failure Obstructive airway disease
33 genes
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12 of 33 corroborated by 2+ sources
TP53(1), SERPINA1(1), ACE(2), CHRM3(2), CYP1A2(2), LRP1B(2), NOS3(1), GSTP1(1), GSTT1(1), HMOX1(2), HSPA1A(1), IL1B(1) +21 more
0.103 0.330 1.34e-34 4.77e-33 ✓ sig. —
Color vision deficiency Scoliosis
173 genes
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7 of 173 corroborated by 2+ sources
PRDM16(1), TBX1(1), WWOX(1), ATF6(3), PDE4D(1), FBN1(2), AMPD3(1), CDH2(1), ADGRL2(1), ANXA10(1), ASB3(1), ATP8B4(1) +161 more
0.095 0.179 1.17e-34 4.16e-33 ✓ sig. Cluster 2 →
Cleft palate and bilateral cleft lip Neuropathy, ataxia, and retinitis pigmentosa
11 genes
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1 of 11 corroborated by 2+ sources
ND1(1), ND2(1), ATP6(2), COX3(1), ATP8(1), COX1(1), ND5(1), COX2(1), ND3(1), ND4(1), ND4L(1)
0.647 0.846 9.85e-35 3.52e-33 ✓ sig. Cluster 32 →
Hereditary motor and sensory neuropathies Peripheral neuropathy
27 genes
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5 of 27 corroborated by 2+ sources
DHTKD1(1), AARS1(1), SLC12A6(1), MME(1), DCTN1(1), DYNC1H1(1), KIF5A(1), MFN2(4), NEFH(1), NEFL(2), COX6A1(1), LITAF(2) +15 more
0.116 0.409 9.49e-35 3.39e-33 ✓ sig. —
Cardiomyopathy Congestive heart failure
40 genes
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32 of 40 corroborated by 2+ sources
INS(2), CAT(2), TP53(2), AGT(2), EYA4(1), KAT8(2), PRKAG2(3), TRPM4(1), NOS3(1), EPO(2), IL1B(2), SOD2(3) +28 more
0.104 0.223 8.16e-35 2.92e-33 ✓ sig. —
Cleft palate and bilateral cleft lip Postaxial polydactyly
12 genes
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ND1(1), ND2(1), PIGL(1), ATP6(1), COX3(1), ATP8(1), COX1(1), ND5(1), COX2(1), ND3(1), ND4(1), ND4L(1)
0.500 0.857 7.24e-35 2.60e-33 ✓ sig. Cluster 32 →
Brugada syndrome Ventricular fibrillation
18 genes
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12 of 18 corroborated by 2+ sources
CACNB2(6), PKP2(4), TRPM4(4), DSP(1), KCNJ2(1), CACNA1C(7), KCNH2(3), RYR2(1), SCN5A(8), TTN(1), CACNA2D1(4), SCN10A(6) +6 more
0.220 0.500 6.10e-35 2.19e-33 ✓ sig. Cluster 4 →
Cataract Nuclear cataract
18 genes
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18 of 18 corroborated by 2+ sources
CRYBB2(5), CRYAA(5), EPHA2(6), NHS(5), GJA8(5), CRYGC(6), WFS1(6), CRYBB1(6), CRYAB(6), UNC45B(6), CRYBB3(5), CRYGD(6) +6 more
0.089 1.000 5.58e-35 2.01e-33 ✓ sig. Cluster 43 →
Breast neoplasms Non-small-cell lung carcinoma
47 genes
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1 of 47 corroborated by 2+ sources
CAT(1), COL7A1(1), TP53(1), ADAMTS1(1), CST6(1), GRIK2(1), MACIR(1), ENO1(1), GSTP1(1), IL10(1), MT3(1), NFE2L2(1) +35 more
0.077 0.343 5.50e-35 1.98e-33 ✓ sig. Cluster 5 →
Congenital pontocerebellar hypoplasia Pontocerebellar hypoplasia
13 genes
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13 of 13 corroborated by 2+ sources
VRK1(6), CHMP1A(5), SLC25A46(6), AGTPBP1(3), PRDM13(4), EXOSC9(5), TOE1(5), EXOSC3(5), CDC40(4), PPIL1(3), EXOSC8(5), CLP1(6) +1 more
0.382 0.867 4.94e-35 1.79e-33 ✓ sig. —
Hyperthyroidism Thyroid disease
19 genes
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1 of 19 corroborated by 2+ sources
NFIA(1), HLA-DQA1(1), ICOS(1), PDE10A(1), VEGFA(1), HLA-DQB1(2), BACH2(1), CTLA4(1), IL2RA(1), PHTF1(1), PTPN22(1), RSBN1(1) +7 more
0.216 0.358 4.45e-35 1.61e-33 ✓ sig. Cluster 39 →
Atrial fibrillation Hypertension
173 genes
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56 of 173 corroborated by 2+ sources
HMGA2(1), YWHAE(1), CASZ1(3), GATA4(3), ZFPM2(1), ATP2A2(2), RUNX1(1), AMPD3(1), CACNA1D(1), ACE(2), ADRA1A(2), AGT(3) +161 more
0.094 0.200 4.26e-35 1.54e-33 ✓ sig. Cluster 78 →
Keratinocyte carcinoma Non-small cell lung carcinoma
25 genes
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3 of 25 corroborated by 2+ sources
ANKRD11(1), TERT(2), BNC2(1), FOXP1(1), HERC2(1), HLA-DQA1(1), HLA-DRB1(1), TRPS1(1), RALY(1), IRF4(1), KRT5(1), BACH2(1) +13 more
0.149 0.325 3.57e-35 1.30e-33 ✓ sig. Cluster 29 →
Amelogenesis imperfecta Dentin dysplasia
13 genes
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13 of 13 corroborated by 2+ sources
SLC24A4(5), AMBN(5), AMELX(6), DLX3(3), ENAM(6), FAM20A(5), FAM83H(5), ITGB6(4), KLK4(5), LAMB3(5), MMP20(5), ODAPH(5) +1 more
0.433 0.765 2.82e-35 1.03e-33 ✓ sig. Cluster 366 →
Spermatogenic failure Testicular azoospermia
20 genes
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20 of 20 corroborated by 2+ sources
NR5A1(4), DMRT1(2), KLHL10(5), STAG3(4), C14orf39(4), MSH5(4), TEX15(4), DMC1(2), MOV10L1(3), TERB1(3), RNF212(4), ZSWIM7(3) +8 more
0.156 0.606 2.24e-35 8.17e-34 ✓ sig. Cluster 31 →
Lung cancer Upper aerodigestive tract neoplasm
55 genes
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4 of 55 corroborated by 2+ sources
CHEK2(1), TP53(1), ABT1(1), GRIK1(1), HCN1(1), HLA-DQA1(1), HLA-DRA(1), HLA-DRB1(1), HMGN4(1), NTM(1), NYAP2(1), OR2B2(1) +43 more
0.073 0.342 2.04e-35 7.45e-34 ✓ sig. —
Loeys-dietz syndrome Marfan syndrome
14 genes
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13 of 14 corroborated by 2+ sources
FBN1(7), COL5A1(2), FBN2(2), TGFB2(6), SMAD3(4), COL3A1(2), MYH11(2), TGFBR1(6), TGFBR2(7), MYLK(2), TGFB3(5), SMAD2(8) +2 more
0.304 0.875 1.95e-35 7.14e-34 ✓ sig. Cluster 12 →
Cardiac arrhythmia Long qt syndrome
26 genes
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21 of 26 corroborated by 2+ sources
KCNE2(7), PKP2(2), TBX5(3), CALM1(6), DSP(1), KCNJ2(3), CACNA1C(7), MYH6(2), SYNE2(2), CALM2(6), CALM3(7), CASQ2(2) +14 more
0.149 0.265 1.88e-35 6.90e-34 ✓ sig. Cluster 4 →
Lung neoplasms Stomach neoplasms
50 genes
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HNF1B(1), DPYD(1), SOX9(1), APOA1(1), NOTCH2(1), CHEK2(1), TP53(1), SERPINA1(1), ACE(1), BCL2L1(1), EGFR(1), ERCC1(1) +38 more
0.098 0.197 1.41e-35 5.19e-34 ✓ sig. Cluster 5 →
Congenital stationary night blindness Night blindness, congenital stationary
12 genes
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11 of 12 corroborated by 2+ sources
CACNA1F(4), PDE6B(6), TRPM1(5), CABP4(1), RHO(6), GNB3(5), GNAT1(5), GPR179(6), GRM6(5), LRIT3(5), NYX(5), SLC24A1(5)
0.462 1.000 1.41e-35 5.18e-34 ✓ sig. Cluster 151 →
Cardiac arrhythmia Cardioembolic stroke
26 genes
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5 of 26 corroborated by 2+ sources
PRRX1(1), ESR2(3), GORAB(1), KCNN2(3), KCNN3(1), TBX5(1), CAV1(1), CAV2(1), AOPEP(1), FAM13B(1), FGF5(1), LRMDA(1) +14 more
0.149 0.265 1.41e-35 5.18e-34 ✓ sig. —
Cone dystrophy Optic atrophy
23 genes
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4 of 23 corroborated by 2+ sources
ABCA4(1), CNGA3(1), CNGB3(3), PDE6C(7), PRPH2(1), CACNA1F(1), ABHD12(1), PCDH15(1), USH2A(1), CRB1(1), GUCY2D(1), RPGRIP1(1) +11 more
0.117 0.605 1.30e-35 4.79e-34 ✓ sig. Cluster 7 →

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