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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
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 17 with or without polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
DYNLT2B(3)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 22 →
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 19 with or without polydactyly
1 gene
Show details
1 of 1 corroborated by 2+ sources
IFT81(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 22 →
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 7 with or without polydactyly
1 gene
Show details
1 of 1 corroborated by 2+ sources
WDR35(4)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 22 →
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 8 with or without polydactyly
1 gene
Show details
1 of 1 corroborated by 2+ sources
DYNC2I1(5)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 22 →
spermatogenic failure 38 Uterine polyp
1 gene
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1 of 1 corroborated by 2+ sources
ARMC2(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Hyperaldosteronism Steroid 11-beta-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP11B1(5)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Polyneuropathy Sterol carrier protein 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SCP2(5)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 239 →
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Meningioma
1 gene
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1 of 1 corroborated by 2+ sources
CST3(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Hereditary atrial fibrillation long qt syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
KCNE1(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Deficiency anemia methylmalonic acidemia due to transcobalamin receptor defect
1 gene
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1 of 1 corroborated by 2+ sources
CD320(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 106 →
Deficiency anemia methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MMUT(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Deficiency anemia methylmalonic aciduria, cblA type
1 gene
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1 of 1 corroborated by 2+ sources
MMAA(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 106 →
Deficiency anemia Methylmalonyl-coa mutase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MMUT(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Congenital pectus carinatum Mixed connective tissue disease
1 gene
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FBN1(1)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Meningioma mosaic SMO syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMO(3)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 292 →
myasthenic syndrome, congenital, 1b, fast-channel Myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CHRNA1(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Blood coagulation disorder inherited blood coagulation disorder
1 gene
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1 of 1 corroborated by 2+ sources
APOLD1(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
intellectual disability, autosomal dominant 42 Uranostaphyloschisis
1 gene
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1 of 1 corroborated by 2+ sources
GNB1(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Intracranial hypertension Mixed connective tissue disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC4A10(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
INTU-related skeletal ciliopathy Short rib dysplasia-polydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INTU(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 22 →
joubert syndrome 17 Uranostaphyloschisis
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Juvenile absence epilepsy Myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
EFHC1(3)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 47 →
Juvenile myoclonic epilepsy Myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CILK1(3)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
Juvenile myoclonic epilepsy Short rib dysplasia-polydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CILK1(2)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. —
leber-like hereditary optic neuropathy, autosomal recessive 1 Williams syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNAJC30(3)
0.040 1.000 1.56e-3 2.38e-3 ✓ sig. Cluster 60 →

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