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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
hearing loss, autosomal recessive 120 Isolated sensorineural deafness
1 gene
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1 of 1 corroborated by 2+ sources
MINAR2(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. Cluster 26 →
high myopia-sensorineural deafness syndrome Isolated sensorineural deafness
1 gene
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1 of 1 corroborated by 2+ sources
SLITRK6(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Hurthle cell thyroid cancer Mitochondrial complex deficiency
1 gene
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1 of 1 corroborated by 2+ sources
NDUFA13(5)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Mitochondrial complex deficiency neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Mitochondrial complex deficiency neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Isolated sensorineural deafness optic atrophy 13 with retinal and foveal abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
SSBP1(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Bjornstad syndrome Mitochondrial complex deficiency
1 gene
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1 of 1 corroborated by 2+ sources
BCS1L(8)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Atherosclerosis primary ciliary dyskinesia 10
1 gene
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1 of 1 corroborated by 2+ sources
DNAAF2(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Deafness and myopia Isolated sensorineural deafness
1 gene
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1 of 1 corroborated by 2+ sources
SLITRK6(3)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Atherosclerosis Cerebrotendinous xanthomatosis
1 gene
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1 of 1 corroborated by 2+ sources
CYP27A1(6)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Atherosclerosis Cholestanol storage disease
1 gene
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1 of 1 corroborated by 2+ sources
CYP27A1(3)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Isolated sensorineural deafness Sensorineural deafness with renal dysfunction
1 gene
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BSND(1)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Isolated sensorineural deafness Sensorineural hearing loss-spastic quadriplegia–intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
AFG2B(2)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Mitochondrial complex deficiency Mitochondrial encephalocardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TMEM70(5)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. Cluster 50 →
Acyl-coa dehydrogenase 9 deficiency Mitochondrial complex deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ACAD9(4)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. Cluster 50 →
Alpha-methylacyl-coa racemase deficiency Mitochondrial complex deficiency
1 gene
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1 of 1 corroborated by 2+ sources
AMACR(3)
0.008 1.000 7.73e-3 9.02e-3 ✓ sig. —
Periprosthetic osteolysis Tooth abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
TBX3(2)
0.045 0.100 7.77e-3 9.06e-3 ✓ sig. —
Hypomyelinating leukodystrophy Treacher collins syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR1C(8)
0.029 0.250 7.77e-3 9.06e-3 ✓ sig. —
Congenital disorder of deglycosylation Hyperlipoproteinemia
1 gene
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NEIL1(1)
0.023 0.333 7.77e-3 9.07e-3 ✓ sig. Cluster 141 →
Congenital cataract Congenital cataract facial dysmorphism neuropathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJA3(2)
0.016 0.500 7.78e-3 9.07e-3 ✓ sig. Cluster 43 →
Congenital cataract Congenital lamellar cataract
1 gene
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1 of 1 corroborated by 2+ sources
HSF4(2)
0.016 0.500 7.78e-3 9.07e-3 ✓ sig. Cluster 43 →
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development Testicular carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
MCM3AP(6)
0.016 0.500 7.78e-3 9.07e-3 ✓ sig. —
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development Testicular germ cell tumor
1 gene
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1 of 1 corroborated by 2+ sources
MCM3AP(6)
0.016 0.500 7.78e-3 9.07e-3 ✓ sig. —
Frontotemporal dementia Oculopharyngeal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.016 0.500 7.78e-3 9.07e-3 ✓ sig. —
Frontotemporal dementia Masp2 deficiency
1 gene
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TARDBP(1)
0.016 0.500 7.78e-3 9.07e-3 ✓ sig. —

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