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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
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 →
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. —
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. —
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. —
Genetic syndromic pierre robin syndrome Microcephaly
1 gene
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EFTUD2(1)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
goldberg-shprintzen syndrome Microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
KIFBP(3)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
microcephalic primordial dwarfism due to RTTN deficiency Microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(4)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Microcephaly microcephaly 26, primary, autosomal dominant
1 gene
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1 of 1 corroborated by 2+ sources
LMNB1(5)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
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. —
Demyelinating leukodystrophy Microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
LMNB1(4)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Amish lethal microcephaly Microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Microcephaly neurodevelopmental disorder with microcephaly and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
SPOP(2)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Microcephaly neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
1 gene
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1 of 1 corroborated by 2+ sources
SPOP(2)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome Microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
QARS1(6)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. Cluster 101 →
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum Microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
DONSON(6)
0.009 1.000 6.88e-3 8.16e-3 ✓ sig. —
Candle syndrome Hyperthyroidism
1 gene
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1 of 1 corroborated by 2+ sources
PSMB8(2)
0.018 0.500 6.87e-3 8.15e-3 ✓ sig. —
Giant axonal neuropathy Peripheral nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
GAN(7)
0.018 0.500 6.87e-3 8.15e-3 ✓ sig. Cluster 243 →

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