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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 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. —
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Erythrokeratodermia with ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ELOVL4(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Otopalatodigital spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital idiopathic intestinal pseudoobstruction Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital idiopathic intestinal pseudoobstruction X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital idiopathic intestinal pseudoobstruction X-linked keloid scarring syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Congenital intestinal duplication Congenital macrodactylia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital intestinal duplication Congenital malformation syndromes involving early overgrowth
1 gene
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PIK3CA(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital intestinal duplication Hemifacial myohyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital macrodactylia Congenital malformation syndromes involving early overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital macrodactylia Hemifacial myohyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →

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