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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
Deafness-enamel hypoplasia-nail defects syndrome Spinocerebellar ataxia blindness deafness syndrome
1 gene
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PEX6(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 219 →
Deafness-enamel hypoplasia-nail defects syndrome peroxisome biogenesis disorder due to PEX1 defect
1 gene
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1 of 1 corroborated by 2+ sources
PEX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 219 →
Deafness-onychodystrophy syndrome Doors syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness, digenic Keratitis ichthyosis hearing loss syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 322 →
Deafness, digenic Peripheral neuropathy with sensorineural hearing impairment syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 322 →
Deafness, dystonia, and cerebral hypomyelination X-linked cerebral adrenoleukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
ABCD1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Deafness, dystonia, and cerebral hypomyelination severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCAP31(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Doors syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Infantile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Periodic paralysis
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deletion 5q35 syndrome Interrupted aortic arch
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →
Deletion 5q35 syndrome NKX2.5-related congenital, conduction and myopathic heart disease
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →
Delpire-mcneill syndrome Lymphatic system disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC12A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Delta zero thalassemia Lepore-beta-thalassemia syndrome
1 gene
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HBD(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Delta-thalassemia Lepore-beta-thalassemia syndrome
1 gene
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HBD(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Den hoed-de boer-voisin syndrome Intellectual developmental disorder seizures extrapyramidal
1 gene
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1 of 1 corroborated by 2+ sources
SATB1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Denys drash syndrome Desmoplastic small round cell tumor
1 gene
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1 of 1 corroborated by 2+ sources
WT1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Caffey disease Dermatofibrosarcoma protuberans
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Dermatofibrosarcoma protuberans Maternal hypertension
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Dermatofibrosarcoma protuberans Rhizomelia
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
COL1A1-related Ehlers-Danlos syndrome Dermatofibrosarcoma protuberans
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Dermatopathia pigmentosa reticularis Sjogren-larsson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KRT14(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 269 →
COL1A1-related Ehlers-Danlos syndrome Combined osteogenesis imperfecta and ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
COL1A1-related Ehlers-Danlos syndrome Cortical congenital hyperostosis
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
COL1A2-related Ehlers-Danlos syndrome Combined osteogenesis imperfecta and ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL1A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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