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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
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMAD4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
KAT6B-related multiple congenital anomalies syndrome Simpson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 200 →
KCNH1 associated disorder Temple-baraitser syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNH1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Kennedy disease Partial androgen insensitivity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AR(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 193 →
Kindler epidermolysis bullosa kindler syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FERMT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
kniest dysplasia spondyloperipheral dysplasia
1 gene
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COL2A1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
L1 syndrome Partial corpus callosum agenesis, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
L1 syndrome Masa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
L1 syndrome X-linked complicated corpus callosum dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
L1 syndrome X-linked complicated spastic paraplegia
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
L1 syndrome X-linked hydrocephalus with stenosis of the aqueduct of sylvius
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Lafora body disease Progressive myoclonic epilepsy with intracellular inclusions
1 gene
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1 of 1 corroborated by 2+ sources
PRDM8(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cataract-neurodevelopmental syndrome Peroxisomal fatty acyl-coa reductase 1 disorder
1 gene
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1 of 1 corroborated by 2+ sources
FAR1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cataract-neurodevelopmental syndrome fatty acyl-CoA reductase 1 upregulation
1 gene
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1 of 1 corroborated by 2+ sources
FAR1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cataract-neurodevelopmental syndrome fatty acyl-CoA reductase 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FAR1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy Combined deficiency of sialidase and beta galactosidase
1 gene
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1 of 1 corroborated by 2+ sources
CTSA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Catshl syndrome Crouzon syndrome with acanthosis nigricans
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 →
Catshl syndrome Muenke syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Catshl 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 →
Caudal duplication anomaly Craniometadiaphyseal osteosclerosis with hip dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
AXIN1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Caudate atrophy Nasu-hakola disease
1 gene
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1 of 1 corroborated by 2+ sources
TYROBP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 333 →
Caveolinopathy Creatine phosphokinase elevation
1 gene
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1 of 1 corroborated by 2+ sources
CAV3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 217 →
Cednik syndrome Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SNAP29(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Central apnea Neonatal encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
MECP2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 61 →
Central core disease Congenital multicore myopathy with external ophthalmoplegia
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 326 →

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