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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
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. —
Glycoprotein storage disease 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. —
GPR161-related medulloblastoma predisposition Medulloblastoma
1 gene
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1 of 1 corroborated by 2+ sources
GPR161(3)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Medulloblastoma Riley-day syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ELP1(5)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC10A7(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Osteoporosis-pseudoglioma syndrome short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC10A7(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Hypertrophy spondylometaphyseal dysplasia, 'corner fracture' type
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. —
Congenital posterior urethral valves Sleep apnea
1 gene
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1 of 1 corroborated by 2+ sources
BNC2(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Congenital tufting enteropathy Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(8)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
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 →
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 →
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. —
Cerebellar ataxia with hearing loss Edema
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A1(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Chondromyxoid fibroma Differentiated thyroid carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
GRM1(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Chromosome 12p deletion syndrome Differentiated thyroid carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
ERC1(2)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —

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