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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
Dysgenesis of corpus callosum Otopalatodigital spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 62 →
Dysgenesis of corpus callosum Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 62 →
dyskeratosis congenita, autosomal dominant 2 Macrocytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
TERT(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Becker nevus syndrome Dysphoric mood
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 186 →
Congenital smooth muscle hamartoma Dysphoric mood
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 186 →
Developmental malformations-deafness-dystonia syndrome Dysphoric mood
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 186 →
Dysphoric mood Dystonia-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 186 →
ACTB-associated syndromic thrombocytopenia Dysphoric mood
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 186 →
dystonia 27 Ullrich congenital muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
COL6A3(7)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 393 →
Dystonia, dopa-responsive, with or without hyperphenylalaninemia Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 112 →
Dystonia, dopa-responsive, with or without hyperphenylalaninemia GTP cyclohydrolase I deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCH1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 112 →
East syndrome Paroxysmal dystonic choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ10(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Encephalocele joubert syndrome 17
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 70 →
Endocrine neoplasms leukodystrophy, hypomyelinating, 25
1 gene
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1 of 1 corroborated by 2+ sources
TMEM163(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Epidermolysis bullosa simplex Weber-cockayne syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KRT14(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 269 →
Epilepsy with auditory features Sacroiliac arthritis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Bladder cancer Retinoblastoma
1 gene
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1 of 1 corroborated by 2+ sources
RB1(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Diabetes insipidus Rhabdomyoma
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Rieger syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Colpocephaly Rieger syndrome
1 gene
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COL4A1(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Discordant ventriculoarterial connection Right isomerism
1 gene
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1 of 1 corroborated by 2+ sources
GDF1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 113 →
Rieger syndrome Ring dermoid of cornea
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 253 →
RYR1-related myopathy Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
17q23.1q23.2 microdeletion syndrome Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →
Amelia Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →

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