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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
Brachytelephalangic chondrodysplasia punctata Chondrodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
ARSL(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Brachytelephalangic chondrodysplasia punctata Coffin-siris syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARSL(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Bullous diffuse cutaneous mastocytosis Cutaneous mastocytosis
1 gene
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1 of 1 corroborated by 2+ sources
KIT(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
C9 deficiency Complement component deficiency
1 gene
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1 of 1 corroborated by 2+ sources
C9(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 383 →
Gaucher disease Myoclonus-renal failure syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SCARB2(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Eye abnormalities myopathy caused by variation in CRPPA
1 gene
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1 of 1 corroborated by 2+ sources
CRPPA(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 14 →
nephrotic syndrome, type 19 Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
NUP160(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Osteopetrosis osteopetrosis, autosomal dominant 3
1 gene
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1 of 1 corroborated by 2+ sources
PLEKHM1(8)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
hearing impairment and infertile male syndrome Male reproductive organ cancer
1 gene
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1 of 1 corroborated by 2+ sources
CDC14A(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 163 →
Cutaneous mastocytosis Hemoglobin high altitude adaptation
1 gene
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1 of 1 corroborated by 2+ sources
EGLN1(4)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Hengel maroofian schols syndrome Toxic nodular goiter
1 gene
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1 of 1 corroborated by 2+ sources
BCAS3(4)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Eye abnormalities Hepatic ductular hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
JAG1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Complement component deficiency Hereditary c1 esterase inhibitor deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 383 →
Atrioventricular block holt-oram syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX5(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Hodgkin disease hypoparathyroidism-deafness-renal disease syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATA3(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
hypopigmentation, organomegaly, and delayed myelination and development Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
CLCN7(7)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Hypotrichosis Palmoplantar keratoderma and congenital alopecia
1 gene
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1 of 1 corroborated by 2+ sources
LSS(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Asbestosis Panniculitis
1 gene
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1 of 1 corroborated by 2+ sources
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 245 →
Osteopetrosis platelet-type bleeding disorder 18
1 gene
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1 of 1 corroborated by 2+ sources
RASGRP2(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Micrognathism POLD1-related polyposis and colorectal cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLD1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
amyotrophic lateral sclerosis type 1 Prion disease
1 gene
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1 of 1 corroborated by 2+ sources
SOD1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Prion disease
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 154 →
Colpocephaly Prion disease
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 154 →
Prion disease Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 154 →
Bronchiectasis pseudohypoaldosteronism, type IB1, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
SCNN1A(7)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 95 →

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