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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
Boudin-mortier syndrome Retinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
NPR3(4)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Cernunnos-XLF deficiency Duodenal ulcer
1 gene
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1 of 1 corroborated by 2+ sources
NHEJ1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2A1 Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
KIF1B(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2D Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
GARS1(5)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. Cluster 15 →
Cleft lip Cleft lip/palate-ectodermal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NECTIN1(6)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Intellectual developmental disorder cataracts myopathy Toxic epidermal necrolysis
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic macrocephaly Seborrheic dermatitis
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
joubert syndrome 3 Retinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
AHI1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
LAMA2-related muscular dystrophy Toxic epidermal necrolysis
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Esophageal adenocarcinoma Gastrointestinal disease
2 genes
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CRTC1(1), FOXP1(1)
0.030 0.063 2.39e-3 3.31e-3 ✓ sig. —
Cleft lip with or without cleft palate Trigeminal nerve disease
1 gene
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1 of 1 corroborated by 2+ sources
CTNND1(2)
0.083 0.167 2.34e-3 3.24e-3 ✓ sig. Cluster 312 →
Congenital bile acid synthesis defect Hereditary sensory and motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
AMACR(6)
0.083 0.167 2.34e-3 3.24e-3 ✓ sig. —
Charge syndrome complex neurodevelopmental disorder with or without congenital anomalies
1 gene
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1 of 1 corroborated by 2+ sources
RERE(2)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Vertebral, cardiac, renal, and limb defects syndrome Vitamin deficiency disorder
1 gene
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1 of 1 corroborated by 2+ sources
NADSYN1(5)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
primary ciliary dyskinesia Visceral heterotaxy
1 gene
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1 of 1 corroborated by 2+ sources
DAW1(2)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Congenital pain insensitivity Corneal ulcer
1 gene
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1 of 1 corroborated by 2+ sources
NGF(2)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Hyperproinsulinemia Male pseudohypopituitarism
1 gene
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1 of 1 corroborated by 2+ sources
LHB(2)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Mitochondrial myopathy with sideroblastic anemia Optic neuropathy
1 gene
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ATP6(1)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Anti-glomerular basement membrane disease Irritant dermatitis
1 gene
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1 of 1 corroborated by 2+ sources
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Asperger syndrome Salivary gland disease
1 gene
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NTM(1)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Hyperproinsulinemia Myoclonic dystonia
1 gene
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1 of 1 corroborated by 2+ sources
DRD2(2)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. Cluster 325 →
Dystonia musculorum deformans Myoclonic dystonia
1 gene
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1 of 1 corroborated by 2+ sources
SGCE(4)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Carcinoid tumor Congenital esophageal anomaly
1 gene
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1 of 1 corroborated by 2+ sources
CDKAL1(2)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Carcinoid tumor Diabetic polyneuropathy
1 gene
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CDKAL1(1)
0.077 0.250 2.34e-3 3.24e-3 ✓ sig. —
Bile duct cancer Specific learning disability
1 gene
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1 of 1 corroborated by 2+ sources
MAPK1(2)
0.067 0.333 2.34e-3 3.24e-3 ✓ sig. —

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