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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 Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALX1(6)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome frontorhiny
1 gene
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1 of 1 corroborated by 2+ sources
ALX3(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome fucosidosis
1 gene
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1 of 1 corroborated by 2+ sources
FUCA1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome glyceronephosphate O-acyltransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GNPAT(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome GNPTAB-mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
GNPTAB(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome GNPTG-mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
GNPTG(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Gollop-wolfgang complex
1 gene
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1 of 1 corroborated by 2+ sources
BHLHA9(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome GPR161-related medulloblastoma predisposition
1 gene
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1 of 1 corroborated by 2+ sources
GPR161(2)
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. —
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 netherton syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPINK5(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
PPP1R21(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. Cluster 68 →
Desbuquois syndrome opsismodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
INPPL1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Osteocraniostenosis
1 gene
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1 of 1 corroborated by 2+ sources
FAM111A(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
myopathy, centronuclear, 5 Obstructive pulmonary disease
1 gene
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1 of 1 corroborated by 2+ sources
SPEG(2)
0.002 1.000 3.63e-2 3.83e-2 ✓ sig. —
myopathy, centronuclear, 5 Oligodendroglioma
1 gene
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1 of 1 corroborated by 2+ sources
SPEG(2)
0.002 1.000 3.63e-2 3.83e-2 ✓ sig. —
nanophthalmos 4 Oligodendroglioma
1 gene
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1 of 1 corroborated by 2+ sources
TMEM98(2)
0.002 1.000 3.63e-2 3.83e-2 ✓ sig. —
neurodevelopmental disorder with spasticity, seizures, and brain abnormalities Obstructive pulmonary disease
1 gene
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1 of 1 corroborated by 2+ sources
NSRP1(2)
0.002 1.000 3.63e-2 3.83e-2 ✓ sig. Cluster 252 →

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