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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 Ulnar-fibular ray defect and brachydactyly
1 gene
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RP1L1(1)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Microphthalmia X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HMGB3(5)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 56 →
Developmental delay X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
USP9X(3)
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 →
Limb girdle muscular dystrophy myopathy caused by variation in FKTN
1 gene
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1 of 1 corroborated by 2+ sources
FKTN(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 14 →
Limb girdle muscular dystrophy myopathy caused by variation in POMT2
1 gene
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1 of 1 corroborated by 2+ sources
POMT2(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 14 →
Left ventricular noncompaction cardiomyopathy MYPN-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYPN(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Microphthalmia NAA10-related syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NAA10(7)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Brain neoplasms neuroblastoma, susceptibility to, 3
1 gene
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1 of 1 corroborated by 2+ sources
ALK(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Limb girdle muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
1 gene
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1 of 1 corroborated by 2+ sources
DAG1(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 14 →
Developmental delay Neurooculocardio-genitourinary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WDR37(6)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy NMNAT1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
NMNAT1(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy occult macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
RP1L1(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Microphthalmia Orbital disease
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. —
colobomatous microphthalmia-rhizomelic dysplasia syndrome Microphthalmia
1 gene
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1 of 1 corroborated by 2+ sources
MAB21L2(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 56 →
combined immunodeficiency due to LRBA deficiency Microphthalmia
1 gene
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1 of 1 corroborated by 2+ sources
LRBA(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Complex partial epilepsy Developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
SCN3A(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy cone dystrophy 3
1 gene
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1 of 1 corroborated by 2+ sources
GUCA1A(7)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Dermatitis
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. —
Congenital membranous nephropathy Dejerine-sottas disease
1 gene
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1 of 1 corroborated by 2+ sources
MME(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Congenital membranous nephropathy Hypertrophic neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
MME(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Congenital merosin-deficient muscular dystrophy Limb girdle muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Heart defect, tongue hamartoma and polysyndactyly Vesicoureteral reflux
1 gene
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1 of 1 corroborated by 2+ sources
WDPCP(5)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Autoimmune hepatitis hereditary fructose intolerance
1 gene
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1 of 1 corroborated by 2+ sources
ALDOB(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cutaneous squamous cell carcinoma histidinemia
1 gene
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1 of 1 corroborated by 2+ sources
HAL(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 29 →

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