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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
Cone dystrophy retinitis pigmentosa 65
1 gene
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1 of 1 corroborated by 2+ sources
CDHR1(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 7 →
Limb girdle muscular dystrophy Sarcotubular myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TRIM32(6)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Left ventricular noncompaction cardiomyopathy Sensorineural deafness with dilated cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
EYA4(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cholangiocarcinoma Serrated polyposis
1 gene
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1 of 1 corroborated by 2+ sources
RNF43(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cholangiocarcinoma sessile serrated polyposis cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RNF43(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Dermatitis severe combined immunodeficiency due to IKK2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IKBKB(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Left ventricular noncompaction cardiomyopathy sick sinus syndrome 2, autosomal dominant
1 gene
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1 of 1 corroborated by 2+ sources
HCN4(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 4 →
skeletal dysplasia, mild, with joint laxity and advanced bone age Vesicoureteral reflux
1 gene
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1 of 1 corroborated by 2+ sources
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy SRD5A3-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
SRD5A3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Dermatitis Systemic primary carnitine deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC22A5(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Brain neoplasms melanoma, cutaneous malignant, susceptibility to, 3
1 gene
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1 of 1 corroborated by 2+ sources
CDK4(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Microphthalmia microphthalmia, syndromic 12
1 gene
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1 of 1 corroborated by 2+ sources
RARB(7)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy MKKS-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
MKKS(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Multiple familial trichoepithelioma Uterine neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(5)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Limb girdle muscular dystrophy Multisystem disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Congenital posterior urethral valves Cutaneous squamous cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
BNC2(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 29 →
Familial cylindromatosis Uterine neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Dermatitis familial meningioma
1 gene
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1 of 1 corroborated by 2+ sources
SMARCE1(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Developmental delay floating-harbor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SRCAP(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Focal dermal hypoplasia Microphthalmia
1 gene
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1 of 1 corroborated by 2+ sources
PORCN(8)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 56 →
Dermatitis Focal palmoplantar keratoderma with joint keratoses
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Uterine neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy GNAT2-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
GNAT2(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy PDE6C-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6C(8)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy PHARC syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ABHD12(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 7 →

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