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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
Corpus callosum agenesis with facial anomalies and robin sequence Medulloblastoma
1 gene
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1 of 1 corroborated by 2+ sources
DDX3X(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
DDOST-congenital disorder of glycosylation Ocular hypertension
1 gene
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1 of 1 corroborated by 2+ sources
DDOST(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. Cluster 405 →
Breast/nipple aplasia or hypoplasia Hypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PTPRF(5)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness Calvarial doughnut lesions with bone fragility
1 gene
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1 of 1 corroborated by 2+ sources
SGMS2(4)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Calvarial doughnut lesions with bone fragility Osteoporosis-pseudoglioma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SGMS2(4)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness Doughnut lesion of calvaria and bone fragility syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SGMS2(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Doughnut lesion of calvaria and bone fragility syndrome Osteoporosis-pseudoglioma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SGMS2(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness ehlers-danlos syndrome, spondylodysplastic type, 1
1 gene
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1 of 1 corroborated by 2+ sources
B4GALT7(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. Cluster 68 →
ehlers-danlos syndrome, spondylodysplastic type, 1 Osteoporosis-pseudoglioma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
B4GALT7(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. Cluster 68 →
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Hypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PPP3CA(4)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
B3GALT6-congenital disorder of glycosylation Bone fragility with contractures, arterial rupture, and deafness
1 gene
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1 of 1 corroborated by 2+ sources
B3GALT6(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
bamforth-lazarus syndrome Differentiated thyroid carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
FOXE1(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Colorectal adenomatous polyposis Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MUTYH(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
colorectal cancer, hereditary nonpolyposis, type 7 Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MLH3(6)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Congenital absence of breast with absent nipple Hypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PTPRF(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
immunodeficiency 97 with autoinflammation Medulloblastoma
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CG(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. Cluster 41 →
intellectual developmental disorder, autosomal dominant 65 Medulloblastoma
1 gene
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1 of 1 corroborated by 2+ sources
KDM4B(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. Cluster 41 →
karyomegalic interstitial nephritis Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAN1(3)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Lynch syndrome RAD51D-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
RAD51D(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
frank-ter haar syndrome Ocular hypertension
1 gene
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1 of 1 corroborated by 2+ sources
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness geroderma osteodysplastica
1 gene
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1 of 1 corroborated by 2+ sources
GORAB(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
geroderma osteodysplastica Osteoporosis-pseudoglioma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GORAB(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
glomerulopathy with fibronectin deposits 2 Hypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
FN1(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Glucocorticoid receptor deficiency/resistance Ocular hypertension
1 gene
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1 of 1 corroborated by 2+ sources
NR3C1(5)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. Cluster 405 →
glycogen storage disease II Hypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
GAA(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —

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