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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
Chromosome 2p16.3 deletion syndrome Dry eye syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NRXN1(3)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Chromosome 5q deletion syndrome Neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
RPS14(3)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Angioedema Chromosome 5q12 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PDE4D(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Focal glomerulosclerosis focal segmental glomerulosclerosis and neurodevelopmental syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRIM8(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. Cluster 30 →
Folic acid deficiency Osteosarcoma
1 gene
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DHFR(1)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Focal glomerulosclerosis free sialic acid storage disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC17A5(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Movement disorder
1 gene
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1 of 1 corroborated by 2+ sources
GBA1(4)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Ghosal hematodiaphyseal dysplasia Lymphoblastic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
TBXAS1(8)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Focal glomerulosclerosis glomerulopathy with fibronectin deposits 2
1 gene
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1 of 1 corroborated by 2+ sources
FN1(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
glycogen storage disease VI Lymphoblastic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
PYGL(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Aromatic l-amino-acid decarboxylase deficiency Lymphoblastic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
DDC(4)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome Lymphoblastic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
CEBPE(3)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
autosomal recessive osteopetrosis 3 Pancreatitis
1 gene
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1 of 1 corroborated by 2+ sources
CA2(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Barber-say syndrome Dry eye syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TWIST2(7)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
bardet-biedl syndrome 16 Focal glomerulosclerosis
1 gene
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1 of 1 corroborated by 2+ sources
SDCCAG8(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Bilateral congenital mydriasis Movement disorder
1 gene
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ITPR1(1)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
hermansky-pudlak syndrome 2 Neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
AP3B1(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Focal glomerulosclerosis schimke immuno-osseous dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Movement disorder spinocerebellar ataxia type 29
1 gene
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1 of 1 corroborated by 2+ sources
ITPR1(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Focal glomerulosclerosis spondylometaphyseal dysplasia, 'corner fracture' type
1 gene
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1 of 1 corroborated by 2+ sources
FN1(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Osteosarcoma Temple-baraitser syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNH1(5)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Ablepharon macrostomia syndrome Dry eye syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TWIST2(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Apolipoprotein c-iii deficiency Delirium, dementia, and cognitive disorders
1 gene
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1 of 1 corroborated by 2+ sources
APOC3(4)
0.018 1.000 3.64e-3 4.67e-3 ✓ sig. —
Delirium, dementia, and cognitive disorders Intracranial hypertension
1 gene
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1 of 1 corroborated by 2+ sources
SLC4A10(2)
0.018 1.000 3.64e-3 4.67e-3 ✓ sig. —
Clonal hematopoiesis Isolated anhidrosis
1 gene
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1 of 1 corroborated by 2+ sources
ITPR2(3)
0.018 1.000 3.64e-3 4.67e-3 ✓ sig. —

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