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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
Camptodactyly, tall stature, and hearing loss syndrome Thanatophoric dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Camptomelic dysplasia Cooks syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 310 →
Camptomelic dysplasia isolated Pierre-Robin syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX9(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 310 →
Camptosynpolydactyly Gollop-wolfgang complex
1 gene
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1 of 1 corroborated by 2+ sources
BHLHA9(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Dyschromatosis
1 gene
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1 of 1 corroborated by 2+ sources
SASH1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Capos syndrome Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A3(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 238 →
Carbamazepine hypersensitivity Thrombophlebitis
1 gene
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1 of 1 corroborated by 2+ sources
HLA-B(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 277 →
Carbonic anhydrase deficiency Hyperammonemic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
CA5A(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Carcinoid syndrome Intestinal cancer
1 gene
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1 of 1 corroborated by 2+ sources
SDHD(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 81 →
Carcinoma in situ Urinary bladder neck obstruction
1 gene
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PTGS2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 375 →
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Developmental delay with facial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED13L(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 263 →
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation Chromosome 6q24-q25 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TAB2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 188 →
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation congenital heart defects, multiple types, 2
1 gene
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1 of 1 corroborated by 2+ sources
TAB2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 188 →
Cardiogenetic disease Repolarization syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNB2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 404 →
cardiomyopathy, dilated, 2l dilated cardiomyopathy 1C
1 gene
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LDB3(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Carnitine deficiency Systemic primary carnitine deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC22A5(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Carvajal syndrome Erythrokeratodermia-cardiomyopathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DSP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 201 →
Casgid syndrome Glutaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GLS(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Casgid syndrome infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
GLS(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cataract-alopecia-sclerodactyly syndrome Palmoplantar keratoderma and congenital alopecia
1 gene
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1 of 1 corroborated by 2+ sources
LSS(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 362 →
Cataract-corneal dystrophy syndrome PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 74 →
developmental and epileptic encephalopathy, 29 Leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Developmental delay and seizures DHDDS-CDG
1 gene
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1 of 1 corroborated by 2+ sources
DHDDS(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Developmental delay due to metabolic enzyme deficiency methylmalonate semialdehyde dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ALDH6A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Developmental delay with ataxia, hypotonia, and facial dysmorphism hypotonia, ataxia, and delayed development syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EBF3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 323 →

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