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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
Growth hormone insensitivity syndrome Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
STAT5B(3)
0.045 0.500 2.60e-3 3.51e-3 ✓ sig. —
Growth hormone insensitivity syndrome with immune dysregulation Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
STAT5B(5)
0.045 0.500 2.60e-3 3.51e-3 ✓ sig. —
Dandy-walker syndrome Developmental delay with short stature and dysmorphic facial features
1 gene
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1 of 1 corroborated by 2+ sources
DPH1(7)
0.045 0.500 2.60e-3 3.51e-3 ✓ sig. —
Platelet-type bleeding disorder qualitative platelet defect
1 gene
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1 of 1 corroborated by 2+ sources
TBXA2R(5)
0.045 0.500 2.60e-3 3.51e-3 ✓ sig. Cluster 33 →
Hereditary folate malabsorption Visual disorder
1 gene
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1 of 1 corroborated by 2+ sources
SARM1(2)
0.045 0.500 2.60e-3 3.51e-3 ✓ sig. —
Hecht syndrome Neuromuscular disease
1 gene
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1 of 1 corroborated by 2+ sources
MYH8(3)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
Hepatic lipase deficiency Hyperlipoproteinemia
1 gene
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1 of 1 corroborated by 2+ sources
LIPC(3)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
hypercholesterolemia, autosomal dominant, 3 Hyperlipoproteinemia
1 gene
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1 of 1 corroborated by 2+ sources
PCSK9(2)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
hypercholesterolemia, familial, 1 Hyperlipoproteinemia
1 gene
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1 of 1 corroborated by 2+ sources
LDLR(3)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
hypercholesterolemia, familial, 4 Hyperlipoproteinemia
1 gene
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1 of 1 corroborated by 2+ sources
LDLRAP1(3)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 141 →
Hypo-akinesia disorder of prenatal onset Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHRNG(4)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
Bjornstad syndrome Neuromuscular disease
1 gene
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1 of 1 corroborated by 2+ sources
BCS1L(6)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 189 →
Borderline personality disorder Kidney neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TPH1(2)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 5 →
Cardiac and skeletal myopathy Neuromuscular disease
1 gene
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1 of 1 corroborated by 2+ sources
ACTN2(2)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
Carnitine deficiency Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC22A5(2)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
congenital myasthenic syndrome 12 Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GFPT1(4)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 34 →
congenital myasthenic syndrome 2A Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB1(4)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
congenital myasthenic syndrome 2C Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHRNB1(4)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
congenital myasthenic syndrome 6 Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHAT(3)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 34 →
congenital myasthenic syndrome 7 Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SYT2(6)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 34 →
congenital myasthenic syndrome 8 Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AGRN(4)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 34 →
Congenital thrombotic disease Generalized anxiety disorder
1 gene
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1 of 1 corroborated by 2+ sources
SI(2)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 69 →
Generalized anxiety disorder leukodystrophy, hypomyelinating, 16
1 gene
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1 of 1 corroborated by 2+ sources
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. —
MKKS-related ciliopathy Nephronophthisis
1 gene
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1 of 1 corroborated by 2+ sources
MKKS(2)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 8 →
ALG2-congenital disorder of glycosylation Myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALG2(4)
0.024 1.000 2.60e-3 3.51e-3 ✓ sig. Cluster 34 →

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