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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
Neural tube defects, susceptibility to Sacral defect
1 gene
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1 of 1 corroborated by 2+ sources
VANGL1(5)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 94 →
Aprosencephaly Neural tube defects, folate-sensitive
1 gene
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1 of 1 corroborated by 2+ sources
MTRR(2)
0.125 0.250 1.04e-3 1.74e-3 ✓ sig. Cluster 121 →
Neural tube defects, susceptibility to Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBXT(5)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Homocystinuria Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
CBS(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
GRHL3-related orofacial clefting Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
GRHL3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
frontorhiny Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ALX3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Neural tube defects, x-linked neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic hypotonia Neural tube defect
1 gene
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1 of 1 corroborated by 2+ sources
KMT5B(2)
0.020 1.000 3.12e-3 4.10e-3 ✓ sig. —
GRHL3-related orofacial clefting Neural tube defect
1 gene
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1 of 1 corroborated by 2+ sources
GRHL3(3)
0.020 1.000 3.12e-3 4.10e-3 ✓ sig. —
frontorhiny Neural tube defect
1 gene
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1 of 1 corroborated by 2+ sources
ALX3(3)
0.020 1.000 3.12e-3 4.10e-3 ✓ sig. —
Neural tube defect neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(3)
0.020 1.000 3.12e-3 4.10e-3 ✓ sig. —
Cerebral folate deficiency Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Bifid uvula Neural tube defects, x-linked
1 gene
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GRHL3(1)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Bifid uvula Neural tube defect
1 gene
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1 of 1 corroborated by 2+ sources
GRHL3(2)
0.020 0.500 6.23e-3 7.48e-3 ✓ sig. —

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