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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
Congenital asplenia NKX2.5-related congenital, conduction and myopathic heart disease
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →
Congenital aural atresia Congenital external auditory canal atresia
1 gene
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1 of 1 corroborated by 2+ sources
TSHZ1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Congenital aural atresia Cutis gyrata syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Congenital camptodactyly Developmental delay with facial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED13L(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 263 →
Congenital central hypothyroidism Thyroid hormone resistance
1 gene
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1 of 1 corroborated by 2+ sources
TRHR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital cleft hand Congenital malformation syndromes predominantly involving limbs
1 gene
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DLX5(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 249 →
Congenital digestive system anomaly Medullary carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 152 →
Congenital ectodermal dysplasia of face Focal facial dermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TWIST2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital epithelial dysplasia of intestine Congenital tufting enteropathy
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Diffuse palmoplantar keratoderma
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital erythropoietic porphyria Thrombocytopenia with dyserythropoietic anemia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Congenital erythropoietic porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Congenital erythropoietic porphyria GATA1-Related X-Linked Cytopenia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Congenital external auditory canal atresia Congenital vertical talus
1 gene
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1 of 1 corroborated by 2+ sources
TSHZ1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital factor ii deficiency Hemophilia b
1 gene
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1 of 1 corroborated by 2+ sources
F2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 388 →
Congenital factor v deficiency Factor v deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F5(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 37 →
Congenital folate absorption defect Hereditary folate malabsorption
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 411 →
Congenital glucose-galactose malabsorption Renal glycosuria
1 gene
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1 of 1 corroborated by 2+ sources
SLC5A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
congenital heart defects, multiple types, 2 Stress urinary incontinence
1 gene
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1 of 1 corroborated by 2+ sources
TAB2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 188 →
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Perisylvian polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 381 →
Congenital hernia of foramen of bochdalek Visual system disorder
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 146 →
Congenital hypoplasia of aortic arch Cystathionine beta-synthase deficiency
1 gene
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PKHD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 157 →
Congenital hypoplasia of femur joubert syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital hypoplasia of femur MORM syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital hypoplastic anemia developmental and epileptic encephalopathy, 50
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 168 →

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