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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
Esophageal adenocarcinoma occult macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
RP1L1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
17,20-lyase deficiency Ovarian cysts
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Ovarian cysts Steroid 17-alpha-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
CBL-related disorder Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
CBL(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Benign prostatic hyperplasia Cerebellar vermis atrophy
1 gene
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1 of 1 corroborated by 2+ sources
SYN3(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Chops syndrome Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
AFF4(3)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
AFF4(4)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Atrial septal defect Dilatation of left cardiac ventricle
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(5)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Atrial septal defect dilated cardiomyopathy 1R
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(6)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Atrial septal defect dilated cardiomyopathy 1Y
1 gene
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1 of 1 corroborated by 2+ sources
TPM1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
EEM syndrome Ovarian cysts
1 gene
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1 of 1 corroborated by 2+ sources
CDH3(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Aarskog-scott syndrome, x-linked Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
FGD1(3)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. Cluster 27 →
Acrocapitofemoral dysplasia Ovarian cysts
1 gene
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1 of 1 corroborated by 2+ sources
IHH(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
amyotrophic lateral sclerosis type 9 Ovarian cysts
1 gene
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1 of 1 corroborated by 2+ sources
ANG(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. Cluster 355 →
Atrial septal defect renpenning syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PQBP1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. Cluster 364 →
Growth disorder renpenning syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PQBP1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Atrial septal defect Right hypoplastic heart syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX20(6)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Atrial septal defect Say meyer syndrome
1 gene
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HUWE1(1)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Ovarian cysts Sleep deprivation
1 gene
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PTGS1(1)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Diabetic ketoacidosis
1 gene
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1 of 1 corroborated by 2+ sources
PBX1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Congenital hypotrichosis with juvenile macular dystrophy Ovarian cysts
1 gene
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1 of 1 corroborated by 2+ sources
CDH3(3)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Primary microcephaly Trichiasis
1 gene
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1 of 1 corroborated by 2+ sources
MCM7(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Esophageal adenocarcinoma Ulnar-fibular ray defect and brachydactyly
1 gene
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1 of 1 corroborated by 2+ sources
RP1L1(2)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Benign prostatic hyperplasia Ulnar-mammary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX3(7)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. —
Benign prostatic hyperplasia Uterine benign neoplasm
1 gene
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BET1L(1)
0.028 1.000 2.27e-3 3.19e-3 ✓ sig. Cluster 37 →

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