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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
Aortic valve disease Carey-fineman-ziter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYMK(6)
0.012 0.500 1.05e-2 1.19e-2 ✓ sig. —
Aortic valve disease Short stature spectrum
1 gene
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1 of 1 corroborated by 2+ sources
ACAN(2)
0.012 1.000 5.26e-3 6.42e-3 ✓ sig. —
Aortic valve disease lissencephaly 10
1 gene
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1 of 1 corroborated by 2+ sources
CEP85L(2)
0.012 1.000 5.26e-3 6.42e-3 ✓ sig. —
Aortic valve disease intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
PIDD1(2)
0.012 1.000 5.26e-3 6.42e-3 ✓ sig. —
Aortic valve disease Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYSM1(3)
0.012 1.000 5.26e-3 6.42e-3 ✓ sig. —
Aortic valve disease Congenital hypogonadotropic hypogonadism
1 gene
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1 of 1 corroborated by 2+ sources
EMX2(2)
0.012 1.000 5.26e-3 6.42e-3 ✓ sig. —
Aortic valve disease aortic valve disease 3
1 gene
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1 of 1 corroborated by 2+ sources
ROBO4(5)
0.012 1.000 5.26e-3 6.42e-3 ✓ sig. —
Aortic aneurysm aortic valve disease 3
1 gene
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1 of 1 corroborated by 2+ sources
ROBO4(2)
0.016 1.000 4.03e-3 5.09e-3 ✓ sig. —
aortic valve disease 3 Thoracic aortic aneurysm and aortic dissection
1 gene
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1 of 1 corroborated by 2+ sources
ROBO4(2)
0.024 1.000 2.66e-3 3.60e-3 ✓ sig. —
aortic valve disease 3 Congenital diaphragmatic hernia
1 gene
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1 of 1 corroborated by 2+ sources
ROBO4(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
aortic valve disease 3 Bicuspid aortic valve
1 gene
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1 of 1 corroborated by 2+ sources
ROBO4(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 188 →
Aortic valve disease Major salivary gland carcinoma
2 genes
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MYMK(1), SLC2A6(1)
0.023 0.333 4.04e-4 8.99e-4 ✓ sig. —
Aortic valve disease Marfan syndrome
7 genes
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7 of 7 corroborated by 2+ sources
FBN1(7), NOTCH1(4), COL5A1(2), TGFB2(2), COL1A1(2), COL3A1(2), LOX(2)
0.059 0.163 2.37e-9 2.06e-8 ✓ sig. —
Aortic valve disease Bicuspid aortic valve
6 genes
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6 of 6 corroborated by 2+ sources
NOTCH1(5), ROBO4(6), GATA5(2), MGP(2), SMAD6(6), NKX2-5(2)
0.067 0.429 5.10e-11 5.23e-10 ✓ sig. —
Aortic valve disease Heart valve disease
8 genes
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3 of 8 corroborated by 2+ sources
NOTCH1(4), FADS1(1), FADS2(1), MECOM(1), LPA(1), COL1A1(2), TIMP1(2), CEP85L(1)
0.070 0.195 3.42e-11 3.54e-10 ✓ sig. —
Aortic valve disease Thoracic aortic aneurysm and aortic dissection
9 genes
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7 of 9 corroborated by 2+ sources
FBN1(5), NOTCH1(4), COL5A1(1), TGFB2(5), COL1A1(2), COL3A1(2), LOX(6), ROBO4(5), GATA5(1)
0.079 0.220 5.97e-13 7.33e-12 ✓ sig. —
Aortic stenosis Aortic valve disease
49 genes
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HMGA2(1), ACAN(1), ALPL(1), PRRX1(1), ALDH1A2(1), ARHGAP24(1), ASCC2(1), FADS1(1), FADS2(1), FLNB(1), HCN1(1), LDLR(1) +37 more
0.527 0.817 5.20e-109 6.80e-107 ✓ sig. —

Showing 17 of 17 matching pairs, sorted by significance (descending). Click a column header to sort.