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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
ectodermal dysplasia and immunodeficiency 2 Giant cell glioblastoma
1 gene
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1 of 1 corroborated by 2+ sources
NFKBIA(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition Erythrocytosis
1 gene
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1 of 1 corroborated by 2+ sources
EGLN1(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Eiken skeletal dysplasia Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Encephaloclastic proliferative vasculopathy
1 gene
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1 of 1 corroborated by 2+ sources
FLVCR2(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
EPHB4-associated vascular malformation spectrum Lymphatic malformation
1 gene
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1 of 1 corroborated by 2+ sources
EPHB4(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
combined immunodeficiency due to ZAP70 deficiency Posterior cortical atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ZAP70(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 93 →
Congenital abnormalities NOTCH1-related AOS spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH1(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital abnormalities Middle lobe syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SALL1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLE1(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital folate absorption defect Hyperhomocysteinemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
congenital heart defects, multiple types, 7 Lymphatic malformation
1 gene
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1 of 1 corroborated by 2+ sources
FLT4(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 381 →
Congenital hypoplasia of pancreas Maturity-onset diabetes of the young
1 gene
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1 of 1 corroborated by 2+ sources
PDX1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital ichthyosis Congenital ichthyosis with hypotrichosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ST14(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 233 →
Congenital microvillous atrophy Progressive intrahepatic cholestasis
1 gene
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1 of 1 corroborated by 2+ sources
MYO5B(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Bile duct neoplasms Giant cell glioblastoma
1 gene
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1 of 1 corroborated by 2+ sources
EGFR(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Basal ganglia disease Biotin-thiamine-responsive basal ganglia disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A3(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Bisphosphoglycerate mutase deficiency Erythrocytosis
1 gene
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1 of 1 corroborated by 2+ sources
BPGM(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 105 →
bleeding disorder, platelet-type, 21 Platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
bleeding disorder, platelet-type, 22 Platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
EPHB2(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 33 →
Blomstrand lethal chondrodysplasia Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Brunet-wagner neurodevelopmental syndrome Rheumatic disease
1 gene
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1 of 1 corroborated by 2+ sources
RBL2(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Congenital pectus carinatum
1 gene
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FBN1(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Coronary artery dissection
1 gene
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FBN1(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
C9 deficiency Macular and posterior pole degeneration
1 gene
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1 of 1 corroborated by 2+ sources
C9(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —

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