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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
Cole-carpenter syndrome Osteogenesis imperfecta
3 genes
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3 of 3 corroborated by 2+ sources
CRTAP(7), P4HB(6), SEC24D(6)
0.075 1.000 1.50e-8 1.19e-7 ✓ sig. Cluster 117 →
Bone fragility with contractures, arterial rupture, and deafness Cole-carpenter syndrome
3 genes
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3 of 3 corroborated by 2+ sources
CRTAP(3), P4HB(6), SEC24D(6)
0.060 1.000 3.03e-8 2.30e-7 ✓ sig. Cluster 117 →
Cole-carpenter syndrome Osteoporosis-pseudoglioma syndrome
3 genes
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3 of 3 corroborated by 2+ sources
CRTAP(3), P4HB(6), SEC24D(6)
0.060 1.000 3.03e-8 2.30e-7 ✓ sig. Cluster 117 →
Miles-carpenter syndrome Wieacker-wolff syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(5)
0.500 1.000 6.49e-5 2.32e-4 ✓ sig. —
Miles-carpenter syndrome Wieacker syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(2)
0.500 1.000 6.49e-5 2.32e-4 ✓ sig. —
Carpenter syndrome MEGF8-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(4)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. —
Carpenter syndrome RAB23-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(5)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. —
Miles-carpenter syndrome X-linked syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Miles-carpenter syndrome Partington syndrome
1 gene
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ZC4H2(1)
0.067 1.000 9.09e-4 1.57e-3 ✓ sig. —
Bladder exstrophy and epispadias complex RAB23-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
MEGF8-related Carpenter syndrome Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(2)
0.025 1.000 2.53e-3 3.45e-3 ✓ sig. —
Gastrointestinal stromal tumor RAB23-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(2)
0.021 1.000 3.05e-3 4.02e-3 ✓ sig. —
Craniosynostosis MEGF8-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(2)
0.017 1.000 3.83e-3 4.88e-3 ✓ sig. —
Arthrogryposis multiplex congenita Miles-carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Bladder exstrophy and epispadias complex Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(4)
0.033 0.333 5.25e-3 6.42e-3 ✓ sig. —
Carpenter syndrome Polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(3)
0.024 0.333 7.58e-3 8.89e-3 ✓ sig. —
Cole-carpenter syndrome Retinal detachment
1 gene
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1 of 1 corroborated by 2+ sources
CRTAP(3)
0.020 0.333 8.94e-3 1.03e-2 ✓ sig. —
Carpenter syndrome Gastrointestinal stromal tumor
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(5)
0.020 0.333 9.13e-3 1.05e-2 ✓ sig. —
Cole-carpenter syndrome Spinocerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
P4HB(6)
0.009 0.333 2.01e-2 2.19e-2 ✓ sig. —
Myocardial ischemia RAB23-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB23(2)
0.003 1.000 2.54e-2 2.71e-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 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. —
Color vision deficiency MEGF8-related Carpenter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MEGF8(2)
0.001 1.000 6.27e-2 6.42e-2 —

Showing 23 of 23 matching pairs, sorted by significance (ascending). Click a column header to sort.