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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
Bifid nose Cleft face
1 gene
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GLI2(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 212 →
Bifid nose Craniofaciosynostosis
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Birk-barel syndrome Cataract-glaucoma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRPM3(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 109 →
Birt-hogg-dube syndrome Potocki-lupski syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLCN(7)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 347 →
Blast crisis Hyper-immunoglobulin syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AICDA(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 131 →
Bmpr1a-related juvenile polyposis juvenile polyposis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BMPR1A(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Boichis syndrome Cerebellar malformation
1 gene
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TMEM67(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 306 →
Boichis syndrome Chylomicron retention disease
1 gene
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DCDC2(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 306 →
Bowed long bones Buruli ulcer
1 gene
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1 of 1 corroborated by 2+ sources
PLOD2(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 263 →
Bowed long bones Congenital camptodactyly
1 gene
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PLOD2(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 263 →
Bowed long bones Congenital hypoplasia of femur
1 gene
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PLOD2(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 263 →
Branchiooculofacial syndrome Branchiootic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 145 →
Branchiooculofacial syndrome Otofaciocervical syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(5)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 145 →
Buruli ulcer Congenital camptodactyly
1 gene
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1 of 1 corroborated by 2+ sources
PLOD2(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 263 →
Buruli ulcer Congenital hypoplasia of femur
1 gene
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1 of 1 corroborated by 2+ sources
PLOD2(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 263 →
Calcium pyrophosphate deposition Craniometadiaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
ANKH(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 208 →
Calcium pyrophosphate deposition Schwartz-lelek syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ANKH(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 208 →
Carbamoyl phosphate synthetase deficiency Hypoplastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 168 →
Carbamoyl phosphate synthetase deficiency Congenital hypoplastic anemia
1 gene
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CAD(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 168 →
Cardiac rhythm disease Ectopic rhythm
1 gene
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1 of 1 corroborated by 2+ sources
SCN5A(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 129 →
Cardiac rhythm disease Paroxysmal ventricular fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
SCN5A(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 129 →
Congenital scoliosis Crst syndrome
1 gene
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FBN1(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 52 →
Corpus callosum agenesis Urethral syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Cortical occipital malformations Developmental delay with language impairment and movement disorder
1 gene
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1 of 1 corroborated by 2+ sources
TBR1(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 275 →
Cortical occipital malformations Intellectual developmental disorder autism speech
1 gene
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1 of 1 corroborated by 2+ sources
TBR1(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 275 →

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