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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
Chromosomal instability microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
KIF11(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Chromosome 16p13.3 deletion syndrome Rubinstein-taybi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CREBBP(7)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 249 →
Chromosome 22q11.2 deletion syndrome Hyperammonemia
1 gene
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ABCA3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 408 →
Chuvash erythrocytosis Secondary polycythemia
1 gene
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1 of 1 corroborated by 2+ sources
VHL(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Citrin deficiency Urea cycle disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 367 →
Cleft palate proliferative retinopathy developmental delay Vitreoretinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
LRRC32(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Accessory skin tag P5CS deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Pantothenate kinase-associated neurodegeneration Rubinstein-taybi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PANK2(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Paraneoplastic syndrome Secondary polycythemia
1 gene
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1 of 1 corroborated by 2+ sources
EPO(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus Patent ductus venosus
1 gene
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1 of 1 corroborated by 2+ sources
AHR(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 191 →
Penile hypospadia peroxisome biogenesis disorder due to PEX1 defect
1 gene
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1 of 1 corroborated by 2+ sources
PEX1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
perrault syndrome 2 Xx gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HARS2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 336 →
perrault syndrome 5 Xx gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TWNK(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Prader-willi syndrome Schaaf-yang syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAGEL2(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Developmental delay with autism spectrum disorder Prader-willi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HERC2(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Auricle malformation diamond-blackfan anemia 6
1 gene
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1 of 1 corroborated by 2+ sources
RPL5(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 236 →
Digestive system neoplasms Dysferlinopathy
1 gene
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1 of 1 corroborated by 2+ sources
DYSF(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Digestive system neoplasms H syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Digestive system neoplasms Intracranial hypertension
1 gene
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1 of 1 corroborated by 2+ sources
SLC4A10(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Digestive system neoplasms myoglobinuria, acute recurrent, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
LPIN1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Direct inguinal hernia Ruptured abdominal aortic aneurysm
1 gene
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TGFBR2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Direct inguinal hernia Ruptured aortic aneurysm
1 gene
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TGFBR2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Direct inguinal hernia Ruptured thoracic aortic aneurysm
1 gene
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TGFBR2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Direct inguinal hernia Thoracoabdominal aortic aneurysm
1 gene
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TGFBR2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Distal anoctaminopathy Rhabdomyolysis
1 gene
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1 of 1 corroborated by 2+ sources
ANO5(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 290 →

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