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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
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. —
Compton-north congenital myopathy Congenital lethal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
CNTN1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital alpha-2-antiplasmin deficiency Congenital plasmin inhibitor deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital analbuminemia Dysalbuminemic hyperthyroxinemia
1 gene
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1 of 1 corroborated by 2+ sources
ALB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 372 →
Congenital aortic valve atresia Congenital mitral valve atresia
1 gene
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FOXP1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 324 →
Congenital aortic valve atresia Intellectual developmental disorder language autism
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 324 →
Congenital aphakia Congenital primary aphakia
1 gene
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1 of 1 corroborated by 2+ sources
FOXE3(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital benign spinal muscular atrophy Digital arthropathy-brachydactyly, familial
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Congenital benign spinal muscular atrophy Parastremmatic dwarfism
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Congenital benign spinal muscular atrophy Scapuloperoneal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Congenital benign spinal muscular atrophy TRPV4-related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Congenital limbs-face contractures-hypotonia-developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital cornea plana Congenital malformation of cornea
1 gene
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1 of 1 corroborated by 2+ sources
KERA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital cornea plana Cornea plana
1 gene
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1 of 1 corroborated by 2+ sources
KERA(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital digestive system anomaly Medullary thyroid cancer
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 152 →
Congenital digestive system anomaly multiple endocrine neoplasia type 2B
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 152 →

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