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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
Combined osteogenesis imperfecta and ehlers-danlos syndrome Rhizomelia
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Combined osteogenesis imperfecta and ehlers-danlos syndrome ehlers-danlos syndrome, cardiac valvular type
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. —
Combined psap deficiency Combined saposin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 118 →
Combined saposin deficiency Gaucher disease due to saposin C deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 118 →
Combined saposin deficiency Krabbe disease due to saposin A deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 118 →
Common arterial trunk with aortic dominance Conotruncal anomaly face syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common arterial trunk with aortic dominance GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common arterial trunk with pulmonary dominance and interrupted aortic arch Conotruncal anomaly face syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common arterial trunk with pulmonary dominance and interrupted aortic arch GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common atrium Ebstein anomaly
1 gene
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CDK8(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Complex spastic paraplegia De barsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Complex spastic paraplegia P5CS deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cone dystrophy, x-linked red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Cone dystrophy, x-linked Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cone dystrophy, x-linked RPGR-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cone monochromatism red color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1LW(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Cone monochromatism red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Cone-rod dystrophy, x-linked Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
Congenital amegakaryocytic thrombocytopenia Thrombocythemia with distal limb defects
1 gene
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1 of 1 corroborated by 2+ sources
THPO(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 53 →
Congenital aniridia Denys drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Congenital aniridia Drash syndrome
1 gene
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WT1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Congenital aniridia wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Renal hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PBX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital aortic valve atresia Intellectual developmental disorder seizures hypotonia skeletal
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 324 →
Congenital asplenia Interrupted aortic arch
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →

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