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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
Knobloch syndrome Megaloblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A1(4)
0.063 0.250 3.11e-3 4.10e-3 ✓ sig. —
Colorectal adenomatous polyposis Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MUTYH(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
colorectal cancer, hereditary nonpolyposis, type 7 Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MLH3(6)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Congenital tufting enteropathy Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(8)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
karyomegalic interstitial nephritis Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAN1(3)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Lynch syndrome RAD51D-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
RAD51D(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Lynch syndrome thrombocytopenia 10
1 gene
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1 of 1 corroborated by 2+ sources
PTPRJ(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Movement disorder Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(3)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
H syndrome Hepatomegaly
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Pseudo-torch syndrome Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
OCLN(6)
0.043 0.333 3.89e-3 4.94e-3 ✓ sig. —
Barth syndrome Left ventricular disease
1 gene
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1 of 1 corroborated by 2+ sources
0.015 1.000 4.29e-3 5.38e-3 ✓ sig. Cluster 4 →
Congenital heart defects H syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Corneal astigmatism Deeah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MADD(4)
0.014 1.000 4.61e-3 5.73e-3 ✓ sig. Cluster 240 →
Chagas cardiomyopathy Chudley-mccullough syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(2)
0.036 0.333 4.86e-3 5.99e-3 ✓ sig. Cluster 400 →
Congenital microcephaly Pseudo-torch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OCLN(6)
0.029 0.333 6.03e-3 7.26e-3 ✓ sig. —
Congenital epithelial dysplasia of intestine Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(8)
0.020 0.500 6.35e-3 7.62e-3 ✓ sig. —
Cystic leukoencephalopathy Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RNASET2(4)
0.020 0.500 6.35e-3 7.62e-3 ✓ sig. Cluster 166 →
Interstitial nephritis Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAN1(5)
0.020 0.500 6.35e-3 7.62e-3 ✓ sig. —
Lynch syndrome Sveinsson chorioretinal atrophy
1 gene
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1 of 1 corroborated by 2+ sources
SEMA4A(2)
0.020 0.500 6.35e-3 7.62e-3 ✓ sig. —
3-hydroxyisobutyryl-coa hydrolase deficiency Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HIBCH(3)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Aminoglycoside-induced deafness Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRMU(3)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Amish lethal microcephaly Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Biotin-thiamine-responsive basal ganglia disease Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A3(5)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Biotinidase deficiency Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BTD(8)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Bjornstad syndrome Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCS1L(6)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —

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