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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
Congenital sensorineural hearing loss Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome
1 gene
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KARS1(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital sensorineural hearing loss Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KARS1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenitally uncorrected transposition of the great arteries Double outlet right ventricle
1 gene
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1 of 1 corroborated by 2+ sources
CFC1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 113 →
B-cell chronic lymphocytic leukemia Conjunctival telangiectasis
1 gene
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1 of 1 corroborated by 2+ sources
ATM(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Continuous spike and wave during sleep syndrome Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 365 →
Corpus callosum agenesis with facial anomalies and robin sequence X-linked syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
DDX3X(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital hand deformities Craniofacial deafness hand syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PAX3(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Auricle malformation Craniofaciocardiohepatic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AMOTL1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Cryptogenic west syndrome Eye pain
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Cutaneous polyarteritis nodosa Ruptured abdominal aortic aneurysm
1 gene
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SMAD3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
Cutaneous polyarteritis nodosa Ruptured aortic aneurysm
1 gene
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SMAD3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
Cutaneous polyarteritis nodosa Ruptured thoracic aortic aneurysm
1 gene
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SMAD3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
Cutaneous polyarteritis nodosa Thoracoabdominal aortic aneurysm
1 gene
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SMAD3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
Accessory skin tag cutis laxa, autosomal dominant 1
1 gene
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1 of 1 corroborated by 2+ sources
ELN(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Accessory skin tag cutis laxa, autosomal recessive, type 1B
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
cutis laxa, autosomal recessive, type 1B Ruptured abdominal aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
cutis laxa, autosomal recessive, type 1B Ruptured aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
cutis laxa, autosomal recessive, type 1B Ruptured thoracic aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 66 →
Cryptogenic west syndrome D-bifunctional protein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HSD17B4(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
D-bifunctional protein deficiency Xx gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HSD17B4(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Accessory skin tag De barsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
B-cell chronic lymphocytic leukemia Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency
1 gene
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IKZF3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Combined psap deficiency Metachromatic leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(7)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 118 →
Complement pathway abnormality systemic lupus erythematosus related to C1QA
1 gene
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1 of 1 corroborated by 2+ sources
C1QA(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Complex cortical dysplasia with other brain malformations Cortical dysgenesis with pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
TUBB3(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —

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