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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 digestive system anomaly multiple endocrine neoplasia type 2A
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 152 →
congenital disorder of glycosylation, type Iw, autosomal dominant STT3A-congenital disorder of glycosylation
1 gene
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STT3A(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Focal palmoplantar keratoderma with joint keratoses
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital factor ii deficiency Congenital prothrombin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F2(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 388 →
Congenital factor ii deficiency thrombophilia due to thrombin defect
1 gene
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1 of 1 corroborated by 2+ sources
F2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 388 →
Congenital factor v deficiency East texas bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
F5(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 37 →
Congenital factor v deficiency thrombophilia due to activated protein c resistance
1 gene
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1 of 1 corroborated by 2+ sources
F5(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 37 →
Congenital factor vii deficiency Factor vii deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F7(8)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital factor x deficiency Factor x deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F10(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital factor xi deficiency Factor xi deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F11(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital factor xii deficiency Factor xii deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F12(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital folate absorption defect Malabsorption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 411 →
Congenital generalized hypercontractile muscle stiffness syndrome TPM3-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital glucokinase-related hyperinsulinism hyperinsulinism due to glucokinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCK(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
congenital heart defects, multiple types, 7 lymphatic malformation 1
1 gene
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FLT4(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital high-molecular-weight kininogen deficiency Hyperesthesia
1 gene
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1 of 1 corroborated by 2+ sources
KNG1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 250 →
Congenital hypoplasia of aortic arch Periportal fibrosis
1 gene
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PKHD1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 157 →
Congenital hypoplasia of clavicle Microstomia
1 gene
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LEMD2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital hypoplasia of clavicle Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LEMD2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital hypoplasia of pancreas pancreatic agenesis 1
1 gene
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1 of 1 corroborated by 2+ sources
PDX1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital hypothalamic hamartoma syndrome Curry-jones syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMO(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 292 →
Congenital hypothalamic hamartoma syndrome Winter shortland temple syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMO(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 292 →
Congenital hypothalamic hamartoma syndrome mosaic SMO syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMO(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 292 →
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies Dentatorubral pallidoluysian atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ATN1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital hypotrichosis with juvenile macular dystrophy EEM syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDH3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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