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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
Cobblestone lissencephaly Fuchs endothelial dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LAMB1(6)
0.040 0.500 2.99e-3 3.95e-3 ✓ sig. —
Dysautonomia Systemic mastocytosis
1 gene
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1 of 1 corroborated by 2+ sources
TPSAB1(3)
0.040 0.500 2.99e-3 3.95e-3 ✓ sig. —
Dyschromatopsia Systemic mastocytosis
1 gene
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1 of 1 corroborated by 2+ sources
EYS(2)
0.040 0.500 2.99e-3 3.95e-3 ✓ sig. —
Brachydactyly-elbow wrist dysplasia syndrome Congenital clubfoot
1 gene
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1 of 1 corroborated by 2+ sources
PITX1(2)
0.040 0.500 2.99e-3 3.95e-3 ✓ sig. —
Bile acid conjugation defect Hypercholesterolemia
1 gene
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1 of 1 corroborated by 2+ sources
BAAT(6)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Cerebral palsy mosaic variegated aneuploidy syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
BUB1B(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
glycogen storage disease II Ventricular dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
GAA(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Glycoprotein storage disease Ventricular dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
GAA(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
neutral lipid storage myopathy Ventricular dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA2(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Myelodysplastic syndrome normophosphatemic familial tumoral calcinosis
1 gene
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1 of 1 corroborated by 2+ sources
SAMD9(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Cerebral palsy obsolete early infantile epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
GAD1(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Cerebral palsy spastic paraplegia, intellectual disability, nystagmus, and obesity
1 gene
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1 of 1 corroborated by 2+ sources
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Immune system disease temtamy preaxial brachydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHSY1(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Immune system disease immunodeficiency 25
1 gene
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1 of 1 corroborated by 2+ sources
CD247(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
immunodeficiency-centromeric instability-facial anomalies syndrome 1 Myelodysplastic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3B(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
intrinsic cardiomyopathy Ventricular dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
PLN(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
ITPKB deficiency Urticaria
1 gene
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1 of 1 corroborated by 2+ sources
ITPKB(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. Cluster 16 →
Abetalipoproteinemia Hypercholesterolemia
1 gene
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1 of 1 corroborated by 2+ sources
MTTP(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Acrokeratosis verruciformis Ventricular dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
ATP2A2(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Amr syndrome Calcinosis
1 gene
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AHSG(1)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
anterior segment dysgenesis 8 Retinal detachment
1 gene
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1 of 1 corroborated by 2+ sources
CPAMD8(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Apolipoprotein a-ii amyloidosis Hypercholesterolemia
1 gene
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1 of 1 corroborated by 2+ sources
APOA2(4)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Apolipoprotein a-ii deficiency Hypercholesterolemia
1 gene
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1 of 1 corroborated by 2+ sources
APOA2(3)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Apolipoprotein c-iii deficiency Hypercholesterolemia
1 gene
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1 of 1 corroborated by 2+ sources
APOC3(4)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —
Digital clubbing, isolated congenital Thyroid neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
HPGD(2)
0.021 1.000 2.99e-3 3.95e-3 ✓ sig. —

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