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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
autosomal recessive osteopetrosis 5 Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OSTM1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
autosomal recessive osteopetrosis 8 Desbuquois syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SNX10(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Rhizomelic dysplasia, ain-naz type
1 gene
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1 of 1 corroborated by 2+ sources
GNPNAT1(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Rhizomelic limb shortening with dysmorphic features
1 gene
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1 of 1 corroborated by 2+ sources
PKDCC(5)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Richieri costa pereira syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EIF4A3(4)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Roberts syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ESCO2(7)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Robin sequence with cleft mandible and limb anomalies
1 gene
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1 of 1 corroborated by 2+ sources
EIF4A3(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Saul-wilson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COG4(3)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome schneckenbecken dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SLC35D1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Severe neonatal spondylometaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SBDS(3)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome SF3B4-related acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
SF3B4(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PISD(3)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome spondyloepimetaphyseal dysplasia with joint laxity, type 3
1 gene
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1 of 1 corroborated by 2+ sources
EXOC6B(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome spondyloepimetaphyseal dysplasia, genevieve type
1 gene
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1 of 1 corroborated by 2+ sources
NANS(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome syndactyly-telecanthus-anogenital and renal malformations syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CCNQ(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome hand-foot-genital syndrome
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 hyperparathyroidism 2 with jaw tumors
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 hyperphosphatasia with intellectual disability syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
PIGV(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome hypopigmentation, organomegaly, and delayed myelination and development
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. —
Desbuquois syndrome lethal occipital encephalocele-skeletal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CYP26B1(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome lethal osteosclerotic bone dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FAM20C(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome liberfarb syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PISD(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome Majeed syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LPIN2(6)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome MEGF8-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(2)
0.002 1.000 3.68e-2 3.87e-2 ✓ sig. —
Desbuquois syndrome meier-gorlin syndrome 2
1 gene
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1 of 1 corroborated by 2+ sources
ORC4(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.