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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
nephronophthisis 12 Short-rib thoracic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TTC21B(3)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 22 →
Fuchs endothelial dystrophy neutral lipid storage myopathy
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA2(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. Cluster 75 →
Congenital impairment of spermatozoa motility Nonobstructive azoospermia
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A8(2)
0.042 1.000 1.49e-3 2.31e-3 ✓ sig. —
Congenital adrenal hyperplasia Toe syndactyly-telecanthus-anogenital and renal malformations syndrome
1 gene
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STAR(1)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Retinitis pigmentosa-deafness syndrome Usher syndrome type 1
1 gene
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1 of 1 corroborated by 2+ sources
MYO7A(2)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Retinitis pigmentosa-deafness syndrome Usher syndrome type 2
1 gene
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1 of 1 corroborated by 2+ sources
USH2A(2)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Cushing's disease Ventricular tachycardia
1 gene
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1 of 1 corroborated by 2+ sources
GNAI2(2)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Hypertrichosis Ventricular tachycardia
1 gene
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1 of 1 corroborated by 2+ sources
ABCA5(3)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Congenital fiber type disproportion myopathy X-linked myotubular myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MTM1(4)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Blepharocheilodontic syndrome Ductal carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
CDH1(6)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Bombay phenotype Vitamin b12 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FUT2(3)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. Cluster 106 →
Congenital pulmonary artery atresia Thromboangiitis obliterans
1 gene
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0.077 0.500 1.43e-3 2.23e-3 ✓ sig. Cluster 1 →
Arthrogryposis De sanctis-cacchione syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ERCC6(4)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Diastolic heart failure Sarcopenia
1 gene
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FTO(1)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Silver-russell syndrome Temple syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DLK1(2)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. Cluster 199 →
Ataxia, spastic, autosomal dominant Presynaptic congenital myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VAMP1(4)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. Cluster 34 →
Macrothrombocytopenia macrothrombocytopenia, isolated
1 gene
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1 of 1 corroborated by 2+ sources
TRPM7(4)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Andersen-tawil syndrome Short qt syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ2(6)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Angiocentric glioma Demyelinating diseases
1 gene
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1 of 1 corroborated by 2+ sources
QKI(3)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Cushing's disease Familial ventricular tachycardia
1 gene
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1 of 1 corroborated by 2+ sources
GNAI2(3)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Familial ventricular tachycardia Hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
ABCA5(3)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Diffuse mesangial sclerosis Hematuria
1 gene
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1 of 1 corroborated by 2+ sources
COL4A4(5)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. Cluster 49 →
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development Hyperphosphatasia with intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGL(3)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Colonic polyps Macrothrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
TRPM7(4)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. —
Congenital cataract facial dysmorphism neuropathy syndrome Posterior subcapsular cataract
1 gene
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GJA3(1)
0.077 0.500 1.43e-3 2.23e-3 ✓ sig. Cluster 43 →

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