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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
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. —
Colchicine resistance Hyperpituitarism
1 gene
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1 of 1 corroborated by 2+ sources
ABCB1(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 57 →
Gastro-entero-pancreatic neuroendocrine tumor hypoparathyroidism-deafness-renal disease syndrome
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. —
hypotonia, ataxia, and delayed development syndrome 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. —
Renal agenesis renal dysplasia, cystic, susceptibility to
1 gene
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1 of 1 corroborated by 2+ sources
BICC1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 152 →
Gouty arthritis retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALPK1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Renal agenesis Right aortic arch
1 gene
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BLTP1(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Mitochondrial myopathy Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
RRM2B(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Secondary parkinson disease Vesiculobullous skin disease
1 gene
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1 of 1 corroborated by 2+ sources
PRKN(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 256 →
Butyrylcholinesterase deficiency Secondary parkinson disease
1 gene
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1 of 1 corroborated by 2+ sources
BCHE(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
inherited retinal dystrophy snowflake vitreoretinal degeneration
1 gene
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KCNJ13(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Craniofacial microsomia T-cell immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOXI3(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 48 →
Catatonia Tremor
1 gene
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1 of 1 corroborated by 2+ sources
CHRM4(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 13 →
Catifa syndrome Cleft lip and palate
1 gene
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1 of 1 corroborated by 2+ sources
RIC1(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 63 →
Central hypothyroidism Renal agenesis
1 gene
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ROBO1(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism Congenital pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PRDM13(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Choroidal neovascularization Portal hypertension
1 gene
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1 of 1 corroborated by 2+ sources
VEGFA(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Chromosome 10q deletion syndrome 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. —
Chromosome 12p deletion syndrome Urinary system disease
1 gene
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1 of 1 corroborated by 2+ sources
ERC1(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Cleft lip and palate Cleft lip/palate-ectodermal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NECTIN1(6)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Cognitive impairment with or without cerebellar ataxia Tremor
1 gene
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1 of 1 corroborated by 2+ sources
SCN8A(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Muscle eye brain disease myopathy caused by variation in CRPPA
1 gene
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1 of 1 corroborated by 2+ sources
CRPPA(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 14 →

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