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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 →
Charcot-Marie-Tooth disease type 4 Gaucher disease
1 gene
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1 of 1 corroborated by 2+ sources
PRX(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Chondrodysplasia chondrodysplasia with joint dislocations, gpapp type
1 gene
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1 of 1 corroborated by 2+ sources
BPNT2(7)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 301 →
Chromosome 1p32-p31 deletion syndrome Toxic nodular goiter
1 gene
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1 of 1 corroborated by 2+ sources
NFIA(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
ciliopathy-IFT74 Congenital brain malformation
1 gene
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1 of 1 corroborated by 2+ sources
IFT74(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 110 →
ciliopathy-IFT74 Congenital hypoplasia of part of brain
1 gene
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1 of 1 corroborated by 2+ sources
IFT74(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 110 →
ciliopathy-IFT74 Microgyria
1 gene
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1 of 1 corroborated by 2+ sources
IFT74(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 110 →
coffin-lowry syndrome Coffin-siris syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RPS6KA3(6)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
coffin-lowry syndrome Micrognathism
1 gene
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1 of 1 corroborated by 2+ sources
RPS6KA3(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Coffin-siris syndrome Small cell ovary carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA4(5)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 120 →
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. —
Coffin-siris syndrome familial meningioma
1 gene
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1 of 1 corroborated by 2+ sources
SMARCE1(7)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
FLNB-associated autosomal dominant filamin related bone disorder Larsen syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNB(7)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Eye abnormalities frank-ter haar syndrome
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 14 →
Gaucher disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GBA1(7)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. Cluster 118 →
Asbestosis Genetic lipodystrophy
1 gene
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EPHX1(1)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
geroderma osteodysplastica Larsen syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GORAB(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Gingivitis Hodgkin disease
1 gene
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1 of 1 corroborated by 2+ sources
TNFRSF8(2)
0.056 1.000 1.10e-3 1.83e-3 ✓ sig. —
Glass syndrome Micrognathism
1 gene
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1 of 1 corroborated by 2+ sources
SATB2(2)
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.