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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
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome Multiple malformations syndrome (bcahh)
1 gene
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KMT2D(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 36 →
Branchial cleft anomalies Multiple malformations syndrome (bcahh)
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 36 →
Microphthalmia, isolated, with coloboma 6 Multiple malformations
1 gene
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GDF3(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Branchial arch abnormalities syndrome Multiple malformations syndrome (bcahh)
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 36 →
Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems Townes-brocks syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DACT1(7)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Microphthalmia with coloboma 6 Multiple malformations
1 gene
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GDF3(1)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Microphthalmia, isolated, with coloboma 7 Multiple malformations
1 gene
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GDF3(1)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. —
Multiple malformations syndrome (bcahh) Vissers-bodmer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(2)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. Cluster 36 →
Liver cavernous hemangioma Multiple malformations syndrome (bcahh)
1 gene
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KMT2D(1)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. Cluster 36 →
Minor salivary gland adenocarcinoma Multiple malformations syndrome (bcahh)
1 gene
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KMT2D(1)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 36 →
Camptocormia Multiple malformations
1 gene
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1 of 1 corroborated by 2+ sources
GDF3(3)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Intraocular medulloepithelioma Multiple malformations syndrome (bcahh)
1 gene
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KMT2D(1)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 36 →
Congenital small ears Multiple malformations syndrome (bcahh)
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(2)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. Cluster 36 →
Congenital cystic eyeball Multiple malformations
1 gene
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1 of 1 corroborated by 2+ sources
GDF3(2)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Multiple malformations syndrome (bcahh) Vein of galen aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(2)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. Cluster 36 →
Multiple malformations syndrome (bcahh) Spinal cord ependymoma
1 gene
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KMT2D(1)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. Cluster 36 →
Hydatidiform mole Multiple malformations syndrome (bcahh)
1 gene
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KMT2D(1)
0.083 1.000 7.10e-4 1.17e-3 ✓ sig. Cluster 36 →
Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems Neural tube defect
1 gene
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DACT1(1)
0.019 1.000 3.36e-3 4.22e-3 ✓ sig. —
Craniosynostosis Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems
1 gene
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1 of 1 corroborated by 2+ sources
DACT1(2)
0.014 1.000 4.52e-3 5.48e-3 ✓ sig. —
Colorectal neoplasms Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems
1 gene
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1 of 1 corroborated by 2+ sources
DACT1(2)
0.003 1.000 1.85e-2 2.00e-2 ✓ sig. —
Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems Scoliosis
1 gene
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1 of 1 corroborated by 2+ sources
DACT1(2)
0.001 1.000 6.71e-2 6.84e-2 —

Showing 21 of 21 matching pairs, sorted by significance (ascending). Click a column header to sort.