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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
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Olmsted syndrome, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 332 →
Brain compression Breast cyst
1 gene
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CACNA1D(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 361 →
Brain compression Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 361 →
Brain compression sinoatrial node dysfunction and deafness
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 361 →
Brain tumor-polyposis syndrome Cenani-lenz syndrome
1 gene
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1 of 1 corroborated by 2+ sources
APC(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 41 →
Brain-lung-thyroid syndrome Choreatic disease
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Branchiooculofacial syndrome Cayler cardiofacial syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 145 →
Branchiootic syndrome Cayler cardiofacial syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 145 →
Branchioskeletogenital syndrome Teebi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDH11(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Branchioskeletogenital syndrome Elsahy-waters syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDH11(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bresek syndrome Keratosis follicularis spinulosa decalvans, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 332 →
Bresek syndrome Olmsted syndrome, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 332 →
Bruton type agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency
1 gene
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1 of 1 corroborated by 2+ sources
BTK(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bryant-li-bhoj neurodevelopmental syndrome Chondroblastoma
1 gene
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1 of 1 corroborated by 2+ sources
H3-3B(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bryant-li-bhoj neurodevelopmental syndrome Hemiparkinsonism hemiatrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
H3-3B(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bryant-li-bhoj neurodevelopmental syndrome Giant cell tumor of bone
1 gene
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1 of 1 corroborated by 2+ sources
H3-3A(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bullous pyoderma gangrenosum Sweet syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PTPN6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Butyryl-coa dehydrogenase deficiency short chain acyl-coa dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ACADS(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Butyrylcholinesterase deficiency Paresis
1 gene
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1 of 1 corroborated by 2+ sources
BCHE(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 378 →
CACNA1F-related retinopathy Cone-rod dystrophy, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1F(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
CACNA1F-related retinopathy X-linked cone-rod dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1F(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
Caffey disease Combined osteogenesis imperfecta and ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Caffey disease Cortical congenital hyperostosis
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Camurati-engelmann syndrome Peritoneal fibrosis
1 gene
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1 of 1 corroborated by 2+ sources
TGFB1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Camurati-engelmann syndrome inflammatory bowel disease, immunodeficiency, and encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
TGFB1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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