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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
Larsen syndrome spondyloepiphyseal dysplasia with congenital joint dislocations
1 gene
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1 of 1 corroborated by 2+ sources
CHST3(4)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Cutaneous mastocytosis Telangiectasia macularis eruptiva perstans
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. —
arthrogryposis multiplex congenita 3, myogenic type Atrioventricular block
1 gene
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1 of 1 corroborated by 2+ sources
SYNE1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Arthrogryposis with oculomotor limitation and retinal anomalies Larsen syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIEZO2(4)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
asphyxiating thoracic dystrophy 3 Micrognathism
1 gene
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1 of 1 corroborated by 2+ sources
DYNC2H1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Asbestosis ATF6-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
ATF6(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
atypical hemolytic-uremic syndrome with B factor anomaly Complement component deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CFB(6)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Atypical teratoid rhabdoid tumor Coffin-siris syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMARCB1(6)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 120 →
autosomal dominant osteopetrosis 2 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. —
autosomal recessive osteopetrosis 1 Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
TCIRG1(8)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
autosomal recessive osteopetrosis 1 Congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
TCIRG1(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
autosomal recessive osteopetrosis 2 Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
TNFSF11(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
autosomal recessive osteopetrosis 3 Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
CA2(6)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
autosomal recessive osteopetrosis 4 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. —
autosomal recessive osteopetrosis 5 Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
OSTM1(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 108 →
autosomal recessive osteopetrosis 6 Osteopetrosis
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. —
autosomal recessive osteopetrosis 8 Osteopetrosis
1 gene
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1 of 1 corroborated by 2+ sources
SNX10(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 108 →
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
G6PC3(3)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
B3GALT6-congenital disorder of glycosylation Larsen syndrome
1 gene
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1 of 1 corroborated by 2+ sources
B3GALT6(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Barakat syndrome Hodgkin disease
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. —
Asbestosis Beriberi
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 →
Bilateral frontoparietal polymicrogyria Cortical dysplasia with other brain malformations
1 gene
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1 of 1 corroborated by 2+ sources
ADGRG1(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Blomstrand lethal chondrodysplasia Chondrodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(6)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Bnar syndrome Eye abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Boomerang dysplasia Larsen syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNB(6)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —

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