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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
Chromodomain helicase dna binding protein 8 overgrowth syndrome Congenital myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD8(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Chromosome xq25 duplication syndrome Holoprosencephaly
1 gene
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1 of 1 corroborated by 2+ sources
STAG2(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Acheiropody Holoprosencephaly
1 gene
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1 of 1 corroborated by 2+ sources
LMBR1(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Adenosine deaminase 2 deficiency Vasculitis
1 gene
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1 of 1 corroborated by 2+ sources
ADA2(7)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 136 →
ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALG2(6)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome myopathy caused by variation in GMPPB
1 gene
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1 of 1 corroborated by 2+ sources
GMPPB(6)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Macrogyria myopathy caused by variation in POMT2
1 gene
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1 of 1 corroborated by 2+ sources
POMT2(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Focal segmental glomerulosclerosis nail-patella syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMX1B(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Duchenne muscular dystrophy nephrotic syndrome, type 12
1 gene
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1 of 1 corroborated by 2+ sources
NUP93(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Holoprosencephaly neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
1 gene
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1 of 1 corroborated by 2+ sources
DLL1(4)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 96 →
Congenital myasthenic syndrome neuronopathy, distal hereditary motor, type 7A
1 gene
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1 of 1 corroborated by 2+ sources
SLC5A7(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital contractural arachnodactyly loeys-dietz syndrome 6
1 gene
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1 of 1 corroborated by 2+ sources
SMAD2(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 12 →
Congenital contractural arachnodactyly meester-loeys syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BGN(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Congenital myasthenic syndrome myasthenic syndrome, congenital, 1b, fast-channel
1 gene
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1 of 1 corroborated by 2+ sources
CHRNA1(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome congenital myasthenic syndrome 10
1 gene
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1 of 1 corroborated by 2+ sources
DOK7(5)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome congenital myasthenic syndrome 12
1 gene
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1 of 1 corroborated by 2+ sources
GFPT1(5)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome congenital myasthenic syndrome 2A
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB1(4)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Congenital myasthenic syndrome congenital myasthenic syndrome 2C
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB1(4)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Congenital myasthenic syndrome congenital myasthenic syndrome 6
1 gene
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1 of 1 corroborated by 2+ sources
CHAT(4)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome congenital myasthenic syndrome 7
1 gene
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1 of 1 corroborated by 2+ sources
SYT2(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome congenital myasthenic syndrome 8
1 gene
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1 of 1 corroborated by 2+ sources
AGRN(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Congenital myasthenic syndrome congenital myasthenic syndrome 9
1 gene
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1 of 1 corroborated by 2+ sources
MUSK(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 34 →
Den hoed-de boer-voisin syndrome Duchenne muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SATB1(3)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Congenital contractural arachnodactyly Trident hand
1 gene
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1 of 1 corroborated by 2+ sources
NPR2(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
Heart valve prolapse Vitamin k deficiency
1 gene
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BGLAP(1)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. Cluster 370 →

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