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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
Barakat syndrome Gastro-entero-pancreatic neuroendocrine tumor
1 gene
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1 of 1 corroborated by 2+ sources
GATA3(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
BARD1-related cancer predisposition Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BARD1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 132 →
Beriberi Gastro-entero-pancreatic neuroendocrine tumor
1 gene
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1 of 1 corroborated by 2+ sources
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 245 →
46,xy gonadal dysgenesis Testicular regression syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DHX37(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 38 →
Cor pulmonale Thiamine-responsive megaloblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A2(7)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Polymorphic catecholaminergic ventricular tachycardia Timothy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1C(6)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Myotonia Tremor
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Dyskinesia, drug-induced Tyrosine hydroxylase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
TH(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Chuvash erythrocytosis Urinary system disease
1 gene
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1 of 1 corroborated by 2+ sources
VHL(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Urinary system disease Urinary tract obstruction
1 gene
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RIOX2(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 122 →
Intracranial aneurysm Wagner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VCAN(6)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Developmental delay with ataxia, hypotonia, and facial dysmorphism Mobius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EBF3(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Disabling pansclerotic morphea of childhood Systemic scleroderma
1 gene
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1 of 1 corroborated by 2+ sources
STAT4(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Dna2-related mitochondrial dna deletion syndrome Mitochondrial myopathy
1 gene
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1 of 1 corroborated by 2+ sources
DNA2(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
duane retraction syndrome 2 Mobius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHN1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Dyschromatosis Rotator cuff tear
1 gene
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1 of 1 corroborated by 2+ sources
SASH1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation Gastro-entero-pancreatic neuroendocrine tumor
1 gene
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1 of 1 corroborated by 2+ sources
IKZF1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
enhanced s-cone syndrome inherited retinal dystrophy
1 gene
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NR2E3(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Bmp4-related ocular growth disorder Cleft lip and palate
1 gene
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1 of 1 corroborated by 2+ sources
BMP4(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
BRCA1-related cancer predisposition Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRCA1(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Rotator cuff tear
1 gene
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1 of 1 corroborated by 2+ sources
SASH1(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Dyskinesia, drug-induced GTP cyclohydrolase I deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCH1(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Hengel maroofian schols syndrome Urinary system disease
1 gene
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1 of 1 corroborated by 2+ sources
BCAS3(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Hydrops with lactic acidosis and sideroblastic anemia Mitochondrial myopathy
1 gene
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1 of 1 corroborated by 2+ sources
LARS2(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Hyperpituitarism MECOM-associated syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MECOM(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —

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