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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
Cerebellar dysfunction with variable cognitive and behavioral abnormalities Uterine disease
1 gene
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1 of 1 corroborated by 2+ sources
POU4F1(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 204 →
Chromosome 1q21.1 deletion syndrome Sutural cataract
1 gene
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1 of 1 corroborated by 2+ sources
GJA8(5)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Chronic progressive external ophthalmoplegia Visceral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
RRM2B(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Conjunctivitis Laryngeal disease
1 gene
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1 of 1 corroborated by 2+ sources
PLG(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 155 →
Congenital malformation syndromes associated with short stature Corpus callosum agenesis
1 gene
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1 of 1 corroborated by 2+ sources
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
De lange syndrome Wilson-turner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HDAC8(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 297 →
Deafness, sensorineural, autosomal-mitochondrial type Wolfram syndrome
1 gene
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ND1(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Demyelinating hereditary motor and sensory neuropathy Proximal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
FBLN5(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Cryoglobulinemia Factor viii deficiency
1 gene
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IFNL4(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital hyperinsulinism Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
1 gene
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1 of 1 corroborated by 2+ sources
HNF4A(6)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Bifunctional enzyme deficiency Fanconi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EHHADH(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 99 →
Fanconi syndrome Fanconi-bickel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A2(5)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
46,xx ovotesticular disorder of sex development Genetic panhypopituitarism
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Erythrokeratodermia with ataxia Hereditary corneal dystrophy
1 gene
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ELOVL4(1)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Factor vii deficiency Thromboembolism
1 gene
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1 of 1 corroborated by 2+ sources
F7(5)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Factor xii deficiency Thromboembolism
1 gene
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1 of 1 corroborated by 2+ sources
F12(4)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Familial cylindromatosis Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CYLD(5)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
fanconi anemia, complementation group s Periventricular nodular heterotopia
1 gene
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1 of 1 corroborated by 2+ sources
BRCA1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
FAT4-related neurodevelopmental disorder Periventricular nodular heterotopia
1 gene
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1 of 1 corroborated by 2+ sources
FAT4(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Folic acid deficiency Megaloblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
DHFR(6)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
frontotemporal dementia and/or amyotrophic lateral sclerosis Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
GRN(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 102 →
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
C9orf72(5)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 102 →
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CHCHD10(6)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 102 →
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
SQSTM1(6)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
TBK1(6)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —

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