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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
FOXC1-related anterior segment dysgenesis Iridogoniodysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
FOXC1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 253 →
fragile x syndrome Xq27.3 q28 duplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FMR1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
free sialic acid storage disease Salla disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC17A5(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 173 →
Congenital idiopathic intestinal pseudoobstruction Frontometaphyseal dysplasia
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 →
Frontometaphyseal dysplasia Otopalatodigital spectrum disorder
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 →
Frontometaphyseal dysplasia 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 →
Frontometaphyseal dysplasia 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 →
Frontometaphyseal dysplasia 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 →
Frontonasal dysplasia with alopecia and genital anomaly Parietal foramina
1 gene
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1 of 1 corroborated by 2+ sources
ALX4(8)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 93 →
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Welander distal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
SQSTM1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Fructokinase deficiency Fructosuria
1 gene
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1 of 1 corroborated by 2+ sources
KHK(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Feingold syndrome Gallbladder agenesis
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 60 →
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes Partial atrioventricular canal defect
1 gene
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1 of 1 corroborated by 2+ sources
GATA4(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 60 →
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
gaze palsy, familial horizontal, with progressive scoliosis 1 Horizontal gaze palsy with progressive scoliosis
1 gene
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1 of 1 corroborated by 2+ sources
ROBO3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Genetic hemolytic uremic syndrome Panuveitis
1 gene
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CFH(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 107 →
Genetic hyperferritinemia without iron overload Hyperferritinemia
1 gene
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1 of 1 corroborated by 2+ sources
FTL(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Genetic panhypopituitarism X-linked congenital generalized hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Genetic panhypopituitarism SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Genetic recurrent myoglobinuria myoglobinuria, acute recurrent, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
LPIN1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Genitourinary disease Hengel maroofian schols syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCAS3(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 287 →
Gillespie syndrome spinocerebellar ataxia type 29
1 gene
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1 of 1 corroborated by 2+ sources
ITPR1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Gillespie syndrome PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Glucocorticoid-remediable aldosteronism Hyperreninemic hypoaldosteronism
1 gene
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1 of 1 corroborated by 2+ sources
CYP11B2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 276 →

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