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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
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Neural tube defect
2 genes
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1 of 2 corroborated by 2+ sources
ZBTB25(1), MTHFD1(5)
0.041 1.000 9.52e-6 4.72e-5 ✓ sig. —
Down syndrome Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(3), MTHFD1(2)
0.091 0.500 8.64e-6 4.30e-5 ✓ sig. —
Hematologic disease Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(3), MTR(3)
0.095 0.500 7.73e-6 3.90e-5 ✓ sig. Cluster 121 →
Anencephaly Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(2), MTRR(2)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. Cluster 121 →
Intracellular cobalamin metabolism disorder Neural tube defects, folate-sensitive
2 genes
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MTRR(1), MTR(1)
0.167 0.500 1.82e-6 1.02e-5 ✓ sig. —
Homocystinuria with megaloblastic anemia Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTRR(4), MTR(2)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 121 →
Caudal regression syndrome Neural tube defects, susceptibility to
2 genes
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2 of 2 corroborated by 2+ sources
FUZ(4), VANGL1(4)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 94 →
Malnutrition Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(3), MTR(3)
0.333 0.667 1.52e-7 1.03e-6 ✓ sig. Cluster 121 →
Hyperhomocysteinemia Neural tube defect
4 genes
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4 of 4 corroborated by 2+ sources
MTHFR(2), MTRR(2), CBS(2), MTR(2)
0.069 0.308 5.82e-8 4.24e-7 ✓ sig. —
Malnutrition Neural tube defect
3 genes
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3 of 3 corroborated by 2+ sources
MTHFR(2), CBS(2), MTR(2)
0.061 1.000 2.84e-8 2.16e-7 ✓ sig. —
Hyperhomocysteinemia Neural tube defects, folate-sensitive
3 genes
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3 of 3 corroborated by 2+ sources
MTHFR(3), MTRR(3), MTR(2)
0.200 0.750 1.88e-9 1.65e-8 ✓ sig. Cluster 121 →
Neural tube defect Neural tube defects, susceptibility to
4 genes
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4 of 4 corroborated by 2+ sources
VANGL2(5), TBXT(3), FUZ(4), VANGL1(4)
0.080 0.800 4.15e-10 3.90e-9 ✓ sig. —
Neural tube defect Neural tube defects, folate-sensitive
4 genes
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4 of 4 corroborated by 2+ sources
MTHFR(3), MTRR(3), MTR(3), MTHFD1(3)
0.082 1.000 8.31e-11 8.35e-10 ✓ sig. —
Neural tube defects, susceptibility to Neural tube defects, x-linked
4 genes
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4 of 4 corroborated by 2+ sources
VANGL2(4), TBXT(2), FUZ(3), VANGL1(3)
0.121 0.800 6.71e-11 6.79e-10 ✓ sig. —
Neural tube defect Neural tube defects, x-linked
31 genes
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29 of 31 corroborated by 2+ sources
SKI(2), INS(2), GLI3(2), CYP1A2(2), MTHFD1L(1), PAX3(2), ZIC5(2), MTHFR(2), PYY(2), CSF2(2), NPY1R(2), IFNG(2) +19 more
0.633 1.000 5.55e-84 4.62e-82 ✓ sig. —

Showing 15 of 40 matching pairs, sorted by significance (descending). Click a column header to sort.