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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
Aortic arch syndrome Pemphigus
2 genes
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1 of 2 corroborated by 2+ sources
HLA-DRB1(2), IL2(1)
0.154 0.333 3.54e-6 1.89e-5 ✓ sig. Cluster 1 →
Cortical development malformation overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
2 genes
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2 of 2 corroborated by 2+ sources
AKT3(2), MTOR(2)
0.069 0.667 8.87e-6 4.41e-5 ✓ sig. —
Bonnevie-ullrich syndrome Hyperemia
2 genes
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2 of 2 corroborated by 2+ sources
CAT(2), NOS2(2)
0.100 0.286 1.61e-5 7.71e-5 ✓ sig. —
Aortic arch syndrome Retinopathy of prematurity
2 genes
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HLA-DRB1(1), HLA-B(1)
0.080 0.333 2.40e-5 1.13e-4 ✓ sig. —
Leigh syndrome Thiamine metabolism dysfunction syndrome
2 genes
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2 of 2 corroborated by 2+ sources
SLC25A19(4), TPK1(4)
0.019 1.000 4.78e-5 2.17e-4 ✓ sig. —
Encephalopathy due to mitochondrial and peroxisomal fission defect Leigh syndrome
2 genes
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2 of 2 corroborated by 2+ sources
DNM1L(3), MFF(2)
0.019 1.000 4.78e-5 2.17e-4 ✓ sig. —
11p partial monosomy syndrome Drash syndrome
1 gene
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WT1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
polycystic liver disease 4 with or without kidney cysts Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 98 →
POLR3A-related disorder Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Microcephalic dwarfism Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 268 →
Malan syndrome marshall-smith syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NFIX(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
LRP5-related exudative vitreoretinopathy Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 98 →
heyn-sproul-jackson syndrome Tatton-Brown-Rahman overgrowth syndrome
1 gene
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DNMT3A(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 268 →
Drash syndrome wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
Denys drash syndrome wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
Denys drash syndrome Drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
Acro-dermo-ungual-lacrimal-tooth syndrome Sweat gland neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 27 →
19p13.3 microduplication syndrome marshall-smith syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NFIX(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
11p partial monosomy syndrome Denys drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
Acro-dermo-ungual-lacrimal-tooth syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 27 →
Acro-dermo-ungual-lacrimal-tooth syndrome Limb-mammary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 27 →
Acro-dermo-ungual-lacrimal-tooth syndrome Rudiger syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 27 →
Chromodomain helicase dna binding protein 8 overgrowth syndrome Intellectual developmental disorder autism dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
CHD8(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 279 →
Congenital aniridia Denys drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Van buchem disease Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →

Showing 25 of 202 matching pairs, sorted by significance (ascending). Click a column header to sort.