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.
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Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
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. —
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 →
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 →
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 →
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 →
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. —
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. —
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 →
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 →
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. —
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 →
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 →
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 →
Seborrheic keratosis Skin disease
21 genes
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TERT(1), TP63(1), BNC2(1), RALY(1), IRF4(1), KRT5(1), SMAD3(1), TTC27(1), PTPN22(1), LPP(1), TYR(1), CASP8(1) +9 more
0.112 0.677 2.21e-34 7.82e-33 ✓ sig. Cluster 29 →
Ehlers-danlos syndrome Thoracic aortic aneurysm and aortic dissection
17 genes
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14 of 17 corroborated by 2+ sources
FBN1(6), NOTCH1(1), COL5A1(8), FBN2(3), PLOD1(5), SLC2A10(1), TGFB2(4), FLNA(4), SMAD3(5), COL1A1(7), MED12(1), COL3A1(7) +5 more
0.246 0.415 2.33e-34 8.23e-33 ✓ sig. Cluster 12 →
Learning disorders Memory disorders
17 genes
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16 of 17 corroborated by 2+ sources
APP(2), PSEN1(2), HTR1A(2), HTR7(2), MAPT(2), PRKN(2), VEGFA(2), ACHE(2), BCL2(2), IGF1(2), IL1B(2), SIGMAR1(1) +5 more
0.239 0.472 2.85e-34 1.00e-32 ✓ sig. —
Developmental disability Global developmental delay
42 genes
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10 of 42 corroborated by 2+ sources
UBE3A(1), ANKRD11(1), SHANK3(2), PTEN(2), ADNP(1), ATRX(1), ARID1B(1), AUTS2(1), GRIN2B(1), KCNQ2(2), SCN8A(1), TCF4(1) +30 more
0.089 0.294 3.17e-34 1.12e-32 ✓ sig. Cluster 6 →
Skin cancer Skin disease
28 genes
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TERT(1), BNC2(1), CUX1(1), EMSY(1), HERC2(1), HLA-DQA1(1), HLA-DRB1(1), MYL10(1), TRPS1(1), RALY(1), IRF4(1), KRT5(1) +16 more
0.120 0.337 3.23e-34 1.13e-32 ✓ sig. Cluster 29 →
Bipolar disorder Psychotic disorders
61 genes
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32 of 61 corroborated by 2+ sources
ADARB1(1), ANK3(3), CDH4(1), FEZ1(2), GCH1(1), GRIK3(2), NPAS3(2), PCNT(1), PDE10A(2), TAFA5(1), TCF4(2), BDNF(2) +49 more
0.047 0.488 3.45e-34 1.21e-32 ✓ sig. —
Colobomatous microphthalmia Microphthalmos
13 genes
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13 of 13 corroborated by 2+ sources
TENM3(2), SHH(3), SOX2(2), STRA6(3), OTX2(2), PORCN(2), RAX(2), VSX2(2), RBP4(2), ALDH1A3(2), GDF6(2), GDF3(2) +1 more
0.333 0.867 5.54e-34 1.94e-32 ✓ sig. Cluster 56 →
Left ventricular disease Left ventricular noncompaction cardiomyopathy
18 genes
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9 of 18 corroborated by 2+ sources
PRDM16(6), JUP(1), MYPN(1), PKP2(3), DSP(1), MYH6(1), RYR2(1), LDB3(2), MYBPC3(6), MYH7(3), TTN(1), ACTC1(2) +6 more
0.207 0.474 5.92e-34 2.07e-32 ✓ sig. Cluster 4 →
Corneal dystrophy Hereditary corneal dystrophy
12 genes
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8 of 12 corroborated by 2+ sources
COL8A2(5), OVOL2(3), TACSTD2(3), VSX1(2), TGFBI(4), CYP4V2(1), KLKB1(1), ZEB1(5), KERA(1), ELOVL4(1), SLC4A11(6), KRT12(5)
0.364 1.000 6.11e-34 2.13e-32 ✓ sig. Cluster 75 →
Global developmental delay Non-specific syndromic intellectual disability
61 genes
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25 of 61 corroborated by 2+ sources
ACTL6A(2), VCP(1), ATP1A3(1), ACTL6B(2), BORCS5(1), DOCK3(2), FOXP4(1), GNB2(2), GRIN2B(1), KCNQ2(1), KMT5B(1), NRXN1(1) +49 more
0.090 0.166 6.75e-34 2.35e-32 ✓ sig. Cluster 6 →
Congenital anomalies of kidney and urinary tract Congenital anomalies of the kidney and urinary tract
15 genes
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14 of 15 corroborated by 2+ sources
ZMYM2(2), TBC1D1(2), SIX2(2), BMP4(1), TBX18(4), TBX6(3), DLG5(2), SLIT2(2), TSHZ3(2), ARHGEF6(2), NRIP1(4), CHD1L(3) +3 more
0.250 0.714 6.79e-34 2.36e-32 ✓ sig. —
Skin disease Skin neoplasms
33 genes
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6 of 33 corroborated by 2+ sources
TERT(1), BNC2(1), CUX1(1), EMSY(1), ERCC2(2), HERC2(1), HLA-DQA1(1), HLA-DRB1(1), MYL10(1), TRPS1(1), IL1A(2), SOD2(2) +21 more
0.114 0.228 7.15e-34 2.48e-32 ✓ sig. Cluster 29 →

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