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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
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. —
Combined deficiency of sialidase and beta galactosidase Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CTSA(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Desbuquois syndrome
1 gene
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ACP5(1)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
congenital disorder of glycosylation type 1E Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DPM1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Parathyroid carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
CDC73(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Parathyroid neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
CDC73(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Peroxisomal fatty acyl-coa reductase 1 disorder
1 gene
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1 of 1 corroborated by 2+ sources
FAR1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Postaxial acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
DHODH(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome pycnodysostosis
1 gene
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1 of 1 corroborated by 2+ sources
CTSK(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome RAB23-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Desmosterolosis
1 gene
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1 of 1 corroborated by 2+ sources
DHCR24(7)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Diaphanospondylodysostosis
1 gene
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1 of 1 corroborated by 2+ sources
BMPER(6)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Doughnut lesion of calvaria and bone fragility syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SGMS2(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome ehlers-danlos syndrome, musculocontractural type 2
1 gene
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1 of 1 corroborated by 2+ sources
DSE(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Enteropathy
1 gene
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1 of 1 corroborated by 2+ sources
SLCO2A1(3)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome FAM111A-related skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FAM111A(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Familial telangiectasia cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATR(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome fatty acyl-CoA reductase 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FAR1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome fatty acyl-CoA reductase 1 upregulation
1 gene
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1 of 1 corroborated by 2+ sources
FAR1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome fontaine progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —

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