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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
Glycogen storage disease PGM1-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
PGM1(3)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. Cluster 148 →
Duodenal ulcer PLD1-related congenital heart disease
1 gene
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1 of 1 corroborated by 2+ sources
PLD1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Glycogen storage disease polyglucosan body myopathy 1 with or without immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
RBCK1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Glycogen storage disease polyglucosan body myopathy type 2
1 gene
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1 of 1 corroborated by 2+ sources
GYG1(7)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. Cluster 148 →
Glycogen storage disease primary ciliary dyskinesia 15
1 gene
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1 of 1 corroborated by 2+ sources
CCDC40(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
primrose syndrome Toxic epidermal necrolysis
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Autoinflammatory syndrome pseudohypoaldosteronism, type IB1, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
SCNN1A(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
RDH12-related dominant retinopathy Retinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
RDH12(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
RDH12-related recessive retinopathy Retinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
RDH12(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Intellectual developmental disorder cataracts myopathy Toxic epidermal necrolysis
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic macrocephaly Seborrheic dermatitis
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
joubert syndrome 3 Retinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
AHI1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
LAMA2-related muscular dystrophy Toxic epidermal necrolysis
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Cernunnos-XLF deficiency Duodenal ulcer
1 gene
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1 of 1 corroborated by 2+ sources
NHEJ1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2A1 Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
KIF1B(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2D Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
GARS1(5)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. Cluster 15 →
Cleft lip Cleft lip/palate-ectodermal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NECTIN1(6)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Glycogen storage disease Hepatic glycogen synthase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GYS2(6)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Hereditary axonal motor and sensory neuropathy Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
BICD2(4)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
hereditary peripheral neuropathy Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
IGHMBP2(4)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Autoinflammatory syndrome hermansky-pudlak syndrome 2
1 gene
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1 of 1 corroborated by 2+ sources
AP3B1(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Autoinflammatory syndrome hermansky-pudlak syndrome 9
1 gene
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1 of 1 corroborated by 2+ sources
BLOC1S6(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Duodenal ulcer leukemia, acute myeloid, susceptibility to
1 gene
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1 of 1 corroborated by 2+ sources
FLT3(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Autoinflammatory syndrome lymphoproliferative syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
ITK(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —
Autoinflammatory syndrome lymphoproliferative syndrome 2
1 gene
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1 of 1 corroborated by 2+ sources
CD27(2)
0.026 1.000 2.40e-3 3.31e-3 ✓ sig. —

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