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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
Capillary-lymphatic-venous malformation Cloves syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 44 →
Capillary-lymphatic-venous malformation Congenital intestinal duplication
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 44 →
Capillary-lymphatic-venous malformation Congenital macrodactylia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 44 →
Capillary-lymphatic-venous malformation Congenital malformation syndromes involving early overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 44 →
Carasil syndrome Malignant peripheral nerve sheath tumor
1 gene
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1 of 1 corroborated by 2+ sources
HTRA1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 403 →
Carasil syndrome Malignant triton tumor
1 gene
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1 of 1 corroborated by 2+ sources
HTRA1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 403 →
Carbamoyl phosphate synthetase deficiency Congenital hyperammonemia
1 gene
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1 of 1 corroborated by 2+ sources
CPS1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 168 →
Carbamoyl phosphate synthetase deficiency developmental and epileptic encephalopathy, 50
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 168 →
Carbohydrate deficient glycoprotein syndrome MAN1B1-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
MAN1B1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Carbohydrate deficient glycoprotein syndrome TMEM165-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
TMEM165(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Congenital camptodactyly
1 gene
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1 of 1 corroborated by 2+ sources
MED13L(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 263 →
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation Stress urinary incontinence
1 gene
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1 of 1 corroborated by 2+ sources
TAB2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 188 →
Cardiac rhythm disease dilated cardiomyopathy 1E
1 gene
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1 of 1 corroborated by 2+ sources
SCN5A(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 129 →
Cardiac rhythm disease SCN5A-related cardiac rhythm disorder
1 gene
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1 of 1 corroborated by 2+ sources
SCN5A(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 129 →
Aphasia Cardiac tamponade
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 258 →
Cardiac tamponade Postictal aphasia
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 258 →
Cardiac tamponade Cholesterol embolism
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cardiac tamponade Commisural aphasia
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 258 →
Cardiac tamponade Dejerine-lichtheim phenomenon
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 258 →
Cardiac, facial, and digital anomalies with developmental delay Cleft palate cardiac defects impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cardiac, facial, and digital anomalies with developmental delay Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion
1 gene
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1 of 1 corroborated by 2+ sources
MEIS2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Carvajal syndrome Lethal acantholytic epidermolysis bullosa
1 gene
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1 of 1 corroborated by 2+ sources
DSP(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 201 →
Carvajal syndrome Ventricular arrhythmia
1 gene
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1 of 1 corroborated by 2+ sources
DSP(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 201 →
Cataplexy Ophthalmoplegia
1 gene
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NPC1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 380 →
cataract 50 with or without glaucoma Cataract-glaucoma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRPM3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 109 →

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