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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
COL1A2-related osteogenesis imperfecta ehlers-danlos syndrome, cardiac valvular type
1 gene
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COL1A2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
COL2A1-related spondyloepiphyseal dysplasia Collagenopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
COL2A1-related spondyloepiphyseal dysplasia Coxa plana
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
COL2A1-related spondyloepiphyseal dysplasia Czech dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
COL2A1-related spondyloepiphyseal dysplasia Dysspondyloenchondromatosis
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
COL2A1-related spondyloepiphyseal dysplasia kniest dysplasia
1 gene
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COL2A1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
COL4A1-related disorder Familial hematuria-retinal arteriolar tortuosity-contractures syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 154 →
COL4A1-related disorder Colpocephaly
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 154 →
COL4A1-related disorder Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 154 →
Cole disease Coronary medial sclerosis of infancy
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 128 →
Cole disease hypopigmentation-punctate palmoplantar keratoderma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 128 →
Collagenopathy Coxa plana
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Collagenopathy Czech dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Collagenopathy Dysspondyloenchondromatosis
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Collagenopathy kniest dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Collagenopathy spondyloperipheral dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Coloboma, cleft lip-palate and mental retardation syndrome Uveal coloboma-cleft lip and palate-intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
YAP1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 401 →
Colpocephaly Familial hematuria-retinal arteriolar tortuosity-contractures syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 154 →
Colpocephaly Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 154 →
combined immunodeficiency due to RELA haploinsufficiency Mucocutaneous ulceration
1 gene
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1 of 1 corroborated by 2+ sources
RELA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency immunodeficiency 84
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Combined malonic and methylmalonic acidemia Combined malonic and methylmalonic aciduria
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Combined psap deficiency Gaucher disease due to saposin C deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 118 →
Combined psap deficiency Krabbe disease due to saposin A deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 118 →
Common atrium Intellectual developmental disorder hypotonia behavioral
1 gene
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1 of 1 corroborated by 2+ sources
CDK8(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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