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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
Leigh syndrome Mitochondrial disease
72 genes
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67 of 72 corroborated by 2+ sources
HIBCH(3), TRMU(3), IARS2(4), MTRFR(3), NARS2(3), NDUFA10(5), NDUFA12(2), NDUFA9(3), NDUFAF2(4), NDUFAF6(4), ND2(1), NDUFS3(4) +60 more
0.259 0.673 1.62e-107 2.08e-105 ✓ sig. Cluster 50 →
Leigh syndrome Mitochondrial complex deficiency
48 genes
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45 of 48 corroborated by 2+ sources
NDUFA10(6), NDUFA12(5), NDUFA9(5), NDUFAF2(5), NDUFAF6(6), ND2(1), NDUFS3(6), NDUFS2(6), TTC19(7), LRPPRC(5), NDUFA2(6), TIMMDC1(5) +36 more
0.268 0.449 3.86e-76 2.95e-74 ✓ sig. Cluster 50 →
Bonnevie-ullrich syndrome Turner syndrome
7 genes
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5 of 7 corroborated by 2+ sources
CAT(2), IGFBP3(1), SOD2(2), SOD1(2), VDR(1), GH1(2), NOS2(2)
0.778 1.000 1.97e-25 4.90e-24 ✓ sig. Cluster 285 →
Constitutional mismatch repair deficiency Lynch syndrome
10 genes
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5 of 10 corroborated by 2+ sources
MSH2(8), MSH6(8), APC(1), TGFBR2(5), RNASET2(1), PMS2(7), TAF1B(1), MLH1(8), ASTE1(1), SLC22A9(1)
0.189 0.769 1.13e-23 2.57e-22 ✓ sig. Cluster 166 →
Leigh syndrome Mitochondrial encephalomyopathy
11 genes
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11 of 11 corroborated by 2+ sources
MTRFR(3), FARS2(3), NDUFS2(5), POLG(2), DNM1L(4), SCO2(3), NDUFV2(4), LONP1(4), FBXL4(3), FOXRED1(5), MFF(2)
0.097 0.688 4.57e-21 9.11e-20 ✓ sig. Cluster 50 →
hereditary nonpolyposis colon cancer Lynch syndrome
8 genes
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8 of 8 corroborated by 2+ sources
CHEK2(3), SMARCA4(2), EPHX1(2), PTPRJ(2), CDKN1B(2), NFKBIZ(2), XRCC4(2), FAN1(3)
0.160 1.000 5.76e-21 1.15e-19 ✓ sig. —
Hereditary breast cancer Lynch syndrome
11 genes
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11 of 11 corroborated by 2+ sources
CHEK2(4), EPCAM(8), MSH2(7), MSH6(8), ATM(3), MRE11(2), PALB2(3), PIK3CA(3), PMS2(6), MLH1(8), MUTYH(2)
0.155 0.344 1.24e-20 2.44e-19 ✓ sig. —
Congenital or early infantile cach syndrome Cree leukoencephalopathy
5 genes
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5 of 5 corroborated by 2+ sources
EIF2B3(2), EIF2B1(2), EIF2B2(2), EIF2B4(2), EIF2B5(2)
0.833 1.000 1.39e-19 2.57e-18 ✓ sig. Cluster 170 →
Congenital or early infantile cach syndrome Vanishing white matter disease
5 genes
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5 of 5 corroborated by 2+ sources
EIF2B3(3), EIF2B1(4), EIF2B2(4), EIF2B4(4), EIF2B5(4)
0.833 1.000 1.39e-19 2.57e-18 ✓ sig. Cluster 170 →
Cytochrome c oxidase deficiency Leigh syndrome
11 genes
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11 of 11 corroborated by 2+ sources
LRPPRC(5), SCO2(5), SCO1(4), COX15(5), SURF1(6), PET100(2), COX10(5), TACO1(4), COX4I1(2), COX8A(2), PET117(2)
0.094 0.550 1.72e-19 3.17e-18 ✓ sig. Cluster 50 →
Childhood ataxia with cns hypomyelination Congenital or early infantile cach syndrome
5 genes
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5 of 5 corroborated by 2+ sources
EIF2B3(2), EIF2B1(2), EIF2B2(2), EIF2B4(2), EIF2B5(2)
0.625 1.000 2.91e-18 5.08e-17 ✓ sig. Cluster 170 →
Combined oxidative phosphorylation deficiency Leigh syndrome
14 genes
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14 of 14 corroborated by 2+ sources
MTRFR(7), NARS2(6), PNPT1(7), EARS2(4), FARS2(7), AIFM1(5), TSFM(4), MTFMT(6), TARS2(6), GTPBP3(7), GFM2(6), GFM1(5) +2 more
0.086 0.206 2.30e-17 3.83e-16 ✓ sig. Cluster 50 →
Waardenburg syndrome Waardenburg-shah syndrome
4 genes
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4 of 4 corroborated by 2+ sources
EDNRB(8), MITF(7), EDN3(8), SOX10(8)
0.286 1.000 3.05e-13 3.86e-12 ✓ sig. Cluster 229 →
Kleins syndrome Waardenburg-shah syndrome
3 genes
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3 of 3 corroborated by 2+ sources
EDNRB(3), MITF(3), EDN3(3)
0.429 0.750 6.57e-11 6.66e-10 ✓ sig. Cluster 229 →
Lynch syndrome Muir-torre syndrome
4 genes
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4 of 4 corroborated by 2+ sources
MSH2(8), MSH6(8), PMS2(7), MLH1(8)
0.080 1.000 9.05e-11 9.07e-10 ✓ sig. Cluster 166 →
Hereditary breast and ovarian cancer syndrome Lynch syndrome
5 genes
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5 of 5 corroborated by 2+ sources
CHEK2(4), ATM(3), MRE11(2), PALB2(2), RAD51D(3)
0.083 0.333 7.76e-10 7.09e-9 ✓ sig. —
Coach syndrome Cystic kidney disease
3 genes
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3 of 3 corroborated by 2+ sources
CC2D2A(3), RPGRIP1L(3), TMEM67(5)
0.103 0.600 4.26e-8 3.19e-7 ✓ sig. —
Aortic disease Bonnevie-ullrich syndrome
3 genes
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3 of 3 corroborated by 2+ sources
CAT(2), SOD2(2), SOD1(2)
0.125 0.429 5.56e-8 4.05e-7 ✓ sig. Cluster 285 →
Aortic arch syndrome Thromboangiitis obliterans
2 genes
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HLA-DRB1(1), HLA-A(1)
0.286 1.000 1.27e-7 8.71e-7 ✓ sig. Cluster 1 →
Aortic arch syndrome Dermatitis
3 genes
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3 of 3 corroborated by 2+ sources
HLA-DRB1(2), HLA-B(2), HLA-A(2)
0.071 0.500 2.76e-7 1.80e-6 ✓ sig. —
Hirschsprung disease Waardenburg-shah syndrome
3 genes
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3 of 3 corroborated by 2+ sources
EDNRB(6), EDN3(6), SOX10(3)
0.043 0.750 3.14e-7 2.01e-6 ✓ sig. —
Hemimegalencephaly overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
2 genes
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2 of 2 corroborated by 2+ sources
AKT3(3), MTOR(3)
0.222 0.667 5.31e-7 3.27e-6 ✓ sig. —
Bonnevie-ullrich syndrome Ureteral calculi
2 genes
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2 of 2 corroborated by 2+ sources
CAT(2), SOD1(2)
0.200 0.500 1.06e-6 6.21e-6 ✓ sig. Cluster 285 →
Aortic arch syndrome Birdshot chorioretinopathy
2 genes
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1 of 2 corroborated by 2+ sources
HLA-B(1), HLA-A(2)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. —
Anencephaly Coach syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CC2D2A(3), RPGRIP1L(3)
0.154 0.400 3.03e-6 1.63e-5 ✓ sig. —

Showing 25 of 202 matching pairs, sorted by significance (ascending). Click a column header to sort.