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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
Bmpr1a-related juvenile polyposis Myhre syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMAD4(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bmpr1a-related juvenile polyposis juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMAD4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bnar syndrome Craniofaciosynostosis
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 185 →
Bockenheimer syndrome Venous malformation
1 gene
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1 of 1 corroborated by 2+ sources
TEK(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 261 →
Bohring syndrome Bohring-opitz syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ASXL1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 331 →
Bohring syndrome Bohring-opitz-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KLHL7(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 331 →
Bohring syndrome Perching syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KLHL7(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 331 →
Boichis syndrome Rhyns syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 306 →
Bombay phenotype Vitamin b12-unresponsive methylmalonic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
FUT2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 106 →
Bone dysplasia with increased bone density Sclerosteosis
1 gene
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1 of 1 corroborated by 2+ sources
SOST(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bone dysplasia with increased bone density Van buchem disease
1 gene
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SOST(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Atelosteogenesis Boomerang dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FLNB(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bosma arhinia microphthalmia syndrome Chediak-higashi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMCHD1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 313 →
Brachydactyly-syndactyly syndrome Hemimelia of limb
1 gene
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1 of 1 corroborated by 2+ sources
HOXD13(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 397 →
Brachymesophalangy Hemimelia of limb
1 gene
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HOXD13(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 397 →
Brachytelephalangic chondrodysplasia punctata X-linked chondrodysplasia punctata
1 gene
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1 of 1 corroborated by 2+ sources
ARSL(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Keratosis follicularis spinulosa decalvans, 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 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 →

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