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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
Cleft lip/palate with abnormal thumbs and microcephaly Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ESCO2(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Codas syndrome Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LONP1(6)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
COG1-congenital disorder of glycosylation Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COG1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
COG4-congenital disorder of glycosylation Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COG4(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Brachytelephalangic chondrodysplasia punctata Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARSL(3)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Calvarial doughnut lesions with bone fragility Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SGMS2(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Camptosynpolydactyly Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BHLHA9(5)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Acromelic frontonasal dysostosis Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZSWIM6(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
ALG12-congenital disorder of glycosylation Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALG12(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
ALG3-congenital disorder of glycosylation Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALG3(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
ALG9-associated autosomal dominant polycystic kidney disease Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALG9(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
alkylglycerone-phosphate synthase deficiency Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AGPS(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Alpha-mannosidosis Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAN2B1(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome immunoskeletal dysplasia with neurodevelopmental abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
EXTL3(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. Cluster 68 →
Desbuquois syndrome Intellectual developmental disorder growth other organ
1 gene
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1 of 1 corroborated by 2+ sources
PPM1D(3)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome joubert syndrome 24
1 gene
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1 of 1 corroborated by 2+ sources
TCTN2(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome thrombocytopenia-absent radius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RBM8A(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome TMEM165-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
TMEM165(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Tricho-dento-osseous syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DLX3(6)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome TRIP11-related skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TRIP11(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Uterine bilocularis
1 gene
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1 of 1 corroborated by 2+ sources
HOXA13(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome X-linked dominant chondrodysplasia punctata
1 gene
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1 of 1 corroborated by 2+ sources
EBP(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
aspartylglucosaminuria Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AGA(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
autosomal dominant osteopetrosis 2 Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CLCN7(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
autosomal recessive osteopetrosis 4 Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CLCN7(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —

Showing 25 of 20813 pairs, sorted by significance (ascending). Click a column header to sort.