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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 glucokinase-related hyperinsulinism Intestinal disaccharide malabsorption
1 gene
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1 of 1 corroborated by 2+ sources
GCK(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Clapo syndrome Congenital hemihypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 44 →
Cloves syndrome Congenital hemihypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 44 →
Congenital hemihypertrophy Congenital intestinal duplication
1 gene
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PIK3CA(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 44 →
Congenital hernia of foramen of bochdalek Doyne honeycomb retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Congenital hypothyroidism due to absence of thyroid gland Interrupted aortic arch
1 gene
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NKX2-5(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Congenital membranous nephropathy Cryopyrin-associated periodic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MME(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Congenital multicore myopathy with external ophthalmoplegia Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
17,20-lyase deficiency Bile duct calculus
1 gene
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CYP17A1(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
17q11.2 microduplication syndrome Middle aortic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
17q11.2 microduplication syndrome Neurofibromatosis
1 gene
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1 of 1 corroborated by 2+ sources
NF1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
17q21.31 microdeletion syndrome Dysgenesis of corpus callosum
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
22q13.3 deletion syndrome Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 112 →
22q13.3 deletion syndrome phelan-mcdermid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SHANK3(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 112 →
2q37 microdeletion syndrome Chromosome 2q37 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HDAC4(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Aapoai amyloidosis Visceral amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
APOA1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Aarskog-scott syndrome, x-linked Congenital foot deformity
1 gene
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1 of 1 corroborated by 2+ sources
FGD1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Abcd syndrome Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Acatalasia Ureteral calculi
1 gene
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1 of 1 corroborated by 2+ sources
CAT(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 285 →
Acro-dermo-ungual-lacrimal-tooth syndrome Cleft lip and cleft of alveolar process of maxilla
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Acrofacial dysostosis SF3B4-related acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
SF3B4(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 289 →
Agat deficiency De toni-debre-fanconi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATM(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 99 →
Agat deficiency Fanconi renotubular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATM(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 99 →
ALS2-related motor neuron disease Hypertyrosinemia
1 gene
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1 of 1 corroborated by 2+ sources
ALS2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 247 →
Alys amyloidosis Visceral amyloidosis
1 gene
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LYZ(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 228 →

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