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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
non-syndromic X-linked intellectual disability Say meyer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HUWE1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 122 →
Exudative retinopathy norrie disease
1 gene
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1 of 1 corroborated by 2+ sources
NDP(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
46,xy sex reversal NR5A1-related sex development disorder
1 gene
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1 of 1 corroborated by 2+ sources
NR5A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 38 →
Focal cortical dysplasia NTHL1-deficiency tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NTHL1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 70 →
oculocutaneous albinism type 2 Skin hair eye pigmentation variation
1 gene
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1 of 1 corroborated by 2+ sources
OCA2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Osteolysis Refractory anemia
1 gene
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1 of 1 corroborated by 2+ sources
TNF(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Cerebellar diseases Pancreatic beta-cell agenesis with neonatal diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
PTF1A(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Paroxysmal tachycardia primary ciliary dyskinesia 5
1 gene
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1 of 1 corroborated by 2+ sources
HYDIN(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 129 →
dilated cardiomyopathy 1E Paroxysmal tachycardia
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 →
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 →
Binge eating disorder hypercholesterolemia, autosomal dominant, type B
1 gene
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1 of 1 corroborated by 2+ sources
APOB(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 140 →

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