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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
Cataract-corneal dystrophy syndrome Congenital aniridia
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cataract-corneal dystrophy syndrome Optic nerve disorder
1 gene
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PAX6(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Cataract-corneal dystrophy syndrome Gillespie syndrome
1 gene
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PAX6(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Cataract-glaucoma syndrome Congenital cataract anterior segment dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PITX3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 109 →
renal tubular dysgenesis - ACE Rheumatic disease of mitral valve
1 gene
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1 of 1 corroborated by 2+ sources
ACE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 195 →
renal tubular dysgenesis - ACE Rheumatic mitral regurgitation
1 gene
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1 of 1 corroborated by 2+ sources
ACE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 195 →
renal tubular dysgenesis of genetic origin Tonne-kalscheuer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
REN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 95 →
Restrictive dermopathy Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 65 →
Cerebral small vessel disease Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
1 gene
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1 of 1 corroborated by 2+ sources
GPHN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 379 →
Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness X-linked cone-rod dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
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 →
Retractile testis Ventricular tachycardia
1 gene
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1 of 1 corroborated by 2+ sources
GNAI2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Rhabdoid tumor predisposition syndrome Small cell ovary carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA4(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 120 →
Rhyns syndrome Senior-boichis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 306 →
Cone-rod dystrophy, x-linked RPGR-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
RPGR-related retinopathy X-linked cone-rod dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
Myosin storage myopathy Scapuloperoneal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
Biventricular noncompaction cardiomyopathy Scapuloperoneal myopathy
1 gene
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MYH7(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
MYH7-related skeletal myopathy Scapuloperoneal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
dilated cardiomyopathy 1S Scapuloperoneal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
Sertoli-leydig cell tumor of ovary Vertebral anomalies with endocrine and t-cell dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
DICER1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 395 →
SIN3A-related intellectual disability syndrome Witteveen-kolk syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 343 →
Skeletal system disorder Triphalangeal thumb-polysyndactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SHH(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 232 →
Small cell ovary carcinoma Thoracic neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 120 →

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