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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
Camurati-engelmann syndrome 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 →
Desmoplastic small round cell tumor Drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Congenital aniridia Drash syndrome
1 gene
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WT1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
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 →
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 →
Tremor-ataxia-central hypomyelination syndrome Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Retinopathy background 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 →
Osteopetrosis and infantile neuroaxonal dystrophy 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 →
Brown tendon sheath syndrome Whispering dysphonia
1 gene
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1 of 1 corroborated by 2+ sources
TUBB4A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Brown tendon sheath syndrome TUBB4A-related neurologic disorder
1 gene
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1 of 1 corroborated by 2+ sources
TUBB4A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Brown tendon sheath syndrome Osteolysis, hereditary, of carpal bones with or without nephropathy
1 gene
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MAFB(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Vitamin d deficiency Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 98 →
14q11.2 microduplication syndrome Chromodomain helicase dna binding protein 8 overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD8(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 279 →
Chudley-mccullough syndrome Neonatal anemia
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 400 →
Chudley-mccullough syndrome Perinatal hemolytic anemia
1 gene
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SPTB(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 400 →
Clonal cytopenia of undetermined significance Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 268 →
Acne inversa Pash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NCSTN(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 116 →
Deaf blind hypopigmentation syndrome Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX10(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Intestinal aganglionosis Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
immunodeficiency 114, folate-responsive Knobloch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 113 →
Bone mineral density quantitative trait locus Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 98 →
Knobloch syndrome microcornea-myopic chorioretinal atrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 113 →
Acro-dermo-ungual-lacrimal-tooth syndrome Cleft lip and cleft of alveolar process of maxilla
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Drash syndrome Wagr syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 35 →

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