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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
Osteopetrosis and infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
PLA2G6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Osteopetrosis and infantile neuroaxonal dystrophy Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Osteopetrosis and infantile neuroaxonal dystrophy polycystic liver disease 4 with or without kidney cysts
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Congenital idiopathic intestinal pseudoobstruction Otopalatodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital spectrum disorder Otopalatodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital syndrome Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital syndrome X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital syndrome X-linked keloid scarring syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Collagenopathy Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
Coxa plana Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
Czech dysplasia Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
Dysspondyloenchondromatosis Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
kniest dysplasia Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
COL1A1-related Ehlers-Danlos syndrome Combined osteogenesis imperfecta and ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
COL1A1-related Ehlers-Danlos syndrome Cortical congenital hyperostosis
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
COL1A2-related Ehlers-Danlos syndrome Combined osteogenesis imperfecta and ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL1A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
COL1A2-related osteogenesis imperfecta Combined osteogenesis imperfecta and ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL1A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
COL4A1-related disorder Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 154 →
Cerebral small vessel disease COL4A1-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Colchicine resistance Familial mediterranean fever
1 gene
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1 of 1 corroborated by 2+ sources
ABCB1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 57 →
Coloboma, cleft lip-palate and mental retardation syndrome Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
YAP1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 401 →
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development Uveal coloboma-cleft lip and palate-intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
YAP1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 401 →
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development Zunich neuroectodermal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGL(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 401 →
Colonic disease Growth hormone insensitivity, partial
1 gene
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1 of 1 corroborated by 2+ sources
GHR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Colonic disease Growth hormone insensitivity syndrome
1 gene
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GHR(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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