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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
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 →
glutaric acidemia type 3 Post-operative myocardial infarction
1 gene
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1 of 1 corroborated by 2+ sources
SUGCT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Glycoprotein ia deficiency sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
1 gene
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1 of 1 corroborated by 2+ sources
MOCS2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Gm1 gangliosidosis mucopolysaccharidosis type 4B
1 gene
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1 of 1 corroborated by 2+ sources
GLB1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
GPR143-related foveal hypoplasia X-linked ocular abinism
1 gene
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1 of 1 corroborated by 2+ sources
GPR143(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 414 →
Granulosa cell tumor of ovary Sertoli-leydig cell tumor of ovary
1 gene
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DICER1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 395 →
greenberg dysplasia Pelger-huet anomaly
1 gene
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1 of 1 corroborated by 2+ sources
LBR(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 280 →
greig cephalopolysyndactyly syndrome Pilosebaceous disorder
1 gene
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1 of 1 corroborated by 2+ sources
GLI3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 142 →
Groenouw corneal dystrophy Thiel-behnke corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TGFBI(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital brain malformation Congenital pontocerebellar hypoplasia
2 genes
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CHMP1A(1), TOE1(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. —
Congenital hypoplasia of part of brain Congenital pontocerebellar hypoplasia
2 genes
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CHMP1A(1), TOE1(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. —
Congenital pontocerebellar hypoplasia Microgyria
2 genes
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CHMP1A(1), TOE1(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. —
Congenital anomaly of limb Vacterl association
2 genes
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2 of 2 corroborated by 2+ sources
SALL1(2), HOXD13(3)
0.065 0.125 1.20e-4 3.93e-4 ✓ sig. —

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