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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▼ Shared cluster
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. —
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. —
Congenital stromal corneal dystrophy Esophageal adenocarcinoma
1 gene
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1 of 1 corroborated by 2+ sources
SPARCL1(2)
0.027 0.500 4.54e-3 5.67e-3 ✓ sig. —
De sanctis-cacchione syndrome Growth disorder
1 gene
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1 of 1 corroborated by 2+ sources
ERCC6(4)
0.027 0.500 4.54e-3 5.67e-3 ✓ sig. —
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. —
Growth disorder Potocki-lupski syndrome
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. —
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. —
Danon disease Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
LAMP2(6)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Developmental delay with overweight and facial dysmorphism Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
SRRM2(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. Cluster 114 →
Dubin-johnson syndrome Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
ABCC2(6)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
AFG3L2(6)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Bosley-salih-alorainy syndrome Congenital heart defects
1 gene
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1 of 1 corroborated by 2+ sources
HOXA1(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome Status epilepticus
1 gene
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1 of 1 corroborated by 2+ sources
MEF2C(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Congenital heart defects H syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
Congenital heart defects HAND2 related congenital heart defect
1 gene
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1 of 1 corroborated by 2+ sources
HAND2(3)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
hereditary spastic paraplegia 11 Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
SPG11(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
hereditary spastic paraplegia 35 Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
FA2H(2)
0.014 1.000 4.55e-3 5.67e-3 ✓ sig. —
hypomyelinating leukodystrophy 2 Spastic ataxia
1 gene
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1 of 1 corroborated by 2+ sources
GJC2(2)
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. —
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. —

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