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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
Paroxysmal tachycardia SCN5A-related cardiac rhythm disorder
1 gene
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1 of 1 corroborated by 2+ sources
SCN5A(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 129 →
Pendred syndrome Sensorineural hearing loss thrombocytopenia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Pendred syndrome progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Bonnevie-ullrich syndrome Peptic esophagitis
1 gene
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VDR(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Periventricular heterotopia with microcephaly, autosomal recessive Periventricular heterotopia, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ARFGEF2(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Periventricular heterotopia, x-linked Periventricular laminar heterotopia
1 gene
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ARFGEF2(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Periventricular heterotopia, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Otopalatodigital spectrum disorder Periventricular heterotopia, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Periventricular heterotopia, x-linked periventricular nodular heterotopia 7
1 gene
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1 of 1 corroborated by 2+ sources
NEDD4L(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Cerebral atrophy PMM2-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
hereditary pheochromocytoma-paraganglioma Polydactyly-macrocephaly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAX(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 81 →
Hyper-igd syndrome Porokeratosis
1 gene
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1 of 1 corroborated by 2+ sources
MVK(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Keratitis ichthyosis hearing loss syndrome Porokeratosis
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Bart-pumphrey syndrome Porokeratosis
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
hemochromatosis type 1 Porphyria cutanea tarda
1 gene
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1 of 1 corroborated by 2+ sources
HFE(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 196 →
immunodeficiency 121 with autoinflammation Proteasome associated autoinflammatory syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSMB10(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Central nervous system non-hodgkin lymphoma immunodeficiency 60
1 gene
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1 of 1 corroborated by 2+ sources
BACH2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 1 →
Diabetes mellitus ketosis prone immunodeficiency due to CD25 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Hyper-igm immunodeficiency syndrome immunodeficiency, common variable, 2
1 gene
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1 of 1 corroborated by 2+ sources
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 131 →
Diabetes mellitus ketosis prone Interleukin 2 receptor deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
hereditary pheochromocytoma-paraganglioma Intestinal cancer
1 gene
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SDHD(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 81 →
Cardiac tamponade Intracranial vasospasm
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Russell-silver syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDKN1C(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 199 →
Iodide peroxidase deficiency Thyroid dyshormonogenesis
1 gene
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1 of 1 corroborated by 2+ sources
TPO(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 88 →
Bonnevie-ullrich syndrome Isolated somatotropin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —

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