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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
Microcephaly microcephaly and chorioretinopathy 1
1 gene
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1 of 1 corroborated by 2+ sources
TUBGCP6(5)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Microcephaly microcephaly with or without short stature
1 gene
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1 of 1 corroborated by 2+ sources
CEP152(5)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. Cluster 101 →
Microcephaly mosaic variegated aneuploidy syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
BUB1B(3)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Male infertility motility disorder Male infertility single gene azoospermia
1 gene
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1 of 1 corroborated by 2+ sources
CCDC146(2)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Leigh syndrome mitochondrial short-chain enoyl-coa hydratase 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ECHS1(4)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. Cluster 50 →
Leigh syndrome Thiamine-responsive encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A3(4)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Biotin-thiamine-responsive basal ganglia disease Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A3(5)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Biotinidase deficiency Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BTD(8)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Bjornstad syndrome Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCS1L(6)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Cataract-growth hormone deficiency-skeletal dysplasia syndrome Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IARS2(6)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Hepatoencephalopathy due to combined oxidative phosphorylation defect Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GFM1(5)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
hereditary mixed polyposis syndrome Pulmonary fibrosis
1 gene
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1 of 1 corroborated by 2+ sources
GREM1(3)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
hermansky-pudlak syndrome 2 Pulmonary fibrosis
1 gene
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1 of 1 corroborated by 2+ sources
AP3B1(2)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Hurthle cell thyroid cancer Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NDUFA13(4)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Fanconi anemia complementation group U Male infertility single gene azoospermia
1 gene
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1 of 1 corroborated by 2+ sources
XRCC2(4)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
3-hydroxyisobutyryl-coa hydrolase deficiency Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HIBCH(3)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Aminoglycoside-induced deafness Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRMU(3)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Amish lethal microcephaly Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2Z Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MORC2(2)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Childhood-onset dystonia Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MECR(2)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MECR(5)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Codas syndrome Leigh syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LONP1(7)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. Cluster 50 →
Male infertility single gene azoospermia spermatogenic failure 56
1 gene
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1 of 1 corroborated by 2+ sources
DNAH10(3)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —
Male infertility single gene azoospermia SYCE1-related gametogenic failure
1 gene
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1 of 1 corroborated by 2+ sources
SYCE1(4)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. Cluster 31 →
Leigh syndrome optic atrophy 13 with retinal and foveal abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
SSBP1(2)
0.009 1.000 6.95e-3 8.23e-3 ✓ sig. —

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