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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
17p11.2 microduplication syndrome Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
RAI1(3)
0.027 0.500 4.54e-3 5.67e-3 ✓ sig. —
Arginine vasopressin resistance Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
AVPR2(2)
0.027 0.500 4.54e-3 5.67e-3 ✓ sig. —
Growth disorder Thyroid hormone metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.027 0.500 4.54e-3 5.67e-3 ✓ sig. —
Brain ischemia thrombocytopenia 4
1 gene
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1 of 1 corroborated by 2+ sources
CYCS(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Status epilepticus thrombocytopenia 6
1 gene
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1 of 1 corroborated by 2+ sources
SRC(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. Cluster 114 →
Congenital heart defects White-kernohan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DDB1(4)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. Cluster 111 →
Status epilepticus Wolcott-rallison syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK3(4)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Oxysterol accumulation disorder Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
CYP7B1(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Pyridoxamine 5'-phosphate oxidase deficiency Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
PNPO(4)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Spastic ataxia Spastic ataxia of charlevoix-saguenay
1 gene
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1 of 1 corroborated by 2+ sources
SACS(4)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Spastic ataxia Spastic ataxia optic atrophy dysarthria syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MTPAP(6)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. Cluster 79 →
Spastic ataxia Spastic ataxia with leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
MARS2(4)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Spastic ataxia spinocerebellar ataxia type 42
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1G(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. Cluster 79 →
Congenital heart defects Gestational trophoblastic disease
1 gene
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POU5F1(1)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
neurodegeneration with brain iron accumulation 4 Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
neurodevelopmental disorder with language impairment and behavioral abnormalities Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
GRIA2(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Congenital heart defects MKKS-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
MKKS(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
mucopolysaccharidosis type 3B Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
NAGLU(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Multiple epiphyseal dysplasia with early-onset diabetes mellitus Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK3(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Common atrium Congenital heart defects
1 gene
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CDK8(1)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Congenital heart defect, intellectual disability, facial dysmorphism syndrome Congenital heart defects
1 gene
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CDK13(1)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Cerebellar-facial-dental syndrome Congenital heart defects
1 gene
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1 of 1 corroborated by 2+ sources
BRF1(5)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Chondromyxoid fibroma Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
GRM1(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
SACS(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Athabaskan brainstem dysgenesis Congenital heart defects
1 gene
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1 of 1 corroborated by 2+ sources
HOXA1(4)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —

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