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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
fanconi anemia complementation group n Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PALB2(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
fanconi anemia complementation group o Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAD51C(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
fanconi anemia, complementation group s 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. —
Colobomatous microphthalmia Focal dermal hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PORCN(7)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 56 →
Gastro-entero-pancreatic neuroendocrine tumor Panniculitis
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 →
Gastro-entero-pancreatic neuroendocrine tumor Thiamine deficiency
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 →
Goldmann-favre syndrome inherited retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(4)
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 →
Macular telangiectasia Phosphoserine phosphatase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSPH(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Macular telangiectasia Ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
ELP4(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Macular telangiectasia spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC1A4(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Coloboma microphthalmia, isolated, with coloboma 7
1 gene
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1 of 1 corroborated by 2+ sources
ABCB6(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 272 →
Colobomatous microphthalmia microphthalmia, isolated, with coloboma 7
1 gene
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1 of 1 corroborated by 2+ sources
ABCB6(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Mitochondrial myopathy
1 gene
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1 of 1 corroborated by 2+ sources
SLC25A4(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Cystitis Mucocutaneous ulceration
1 gene
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1 of 1 corroborated by 2+ sources
RELA(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
inherited retinal dystrophy mucopolysaccharidosis type 3C
1 gene
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HGSNAT(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Muscle eye brain disease muscular dystrophy-dystroglycanopathy
1 gene
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1 of 1 corroborated by 2+ sources
LARGE1(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 14 →
Muscle eye brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
1 gene
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1 of 1 corroborated by 2+ sources
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.