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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
Blindness RPE65-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPE65(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 241 →
Blindness RPE65-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPE65(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 241 →
autosomal recessive limb-girdle muscular dystrophy Sarcotubular myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TRIM32(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Lymphoproliferative syndrome severe combined immunodeficiency due to CD70 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CD70(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Hepatic encephalopathy severe combined immunodeficiency due to DNA-PKcs deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PRKDC(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 57 →
Hyperemia severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ADA(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Bronchial hyperreactivity Sleep deprivation
1 gene
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1 of 1 corroborated by 2+ sources
PTGS1(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Bicuspid aortic valve SMAD6-related disease
1 gene
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1 of 1 corroborated by 2+ sources
SMAD6(4)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Anterior segment mesenchymal dysgenesis spinocerebellar ataxia type 29
1 gene
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1 of 1 corroborated by 2+ sources
ITPR1(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Spondylometaphyseal dysplasia spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PCYT1A(7)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Spondylometaphyseal dysplasia spondylometaphyseal dysplasia, 'corner fracture' type
1 gene
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1 of 1 corroborated by 2+ sources
FN1(6)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Stickler syndrome Stickler syndrome, type 4
1 gene
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1 of 1 corroborated by 2+ sources
COL9A1(8)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 248 →
Endocrine system disease syndromic multisystem autoimmune disease due to ITCH deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ITCH(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 153 →
Arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia 5
1 gene
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1 of 1 corroborated by 2+ sources
TMEM43(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Testicular disease
1 gene
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1 of 1 corroborated by 2+ sources
PPP3CA(4)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 88 →
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome autosomal recessive limb-girdle muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
ANO5(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Ataxia with polyneuropathy Bicuspid aortic valve
1 gene
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ATP6(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
ATP1A3-associated neurological disorder Congenital epicanthus
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A3(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 238 →
Atrial and intestinal dysrhythmia Intestinal disease
1 gene
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1 of 1 corroborated by 2+ sources
SGO1(6)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Atrophoderma vermiculata Developmental dysplasia of the hip
1 gene
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1 of 1 corroborated by 2+ sources
LRP1(5)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 194 →
autoimmune lymphoproliferative syndrome type 1 Testicular disease
1 gene
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1 of 1 corroborated by 2+ sources
FASLG(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
autosomal dominant cerebellar ataxia Vascular brain injury
1 gene
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1 of 1 corroborated by 2+ sources
NPTX1(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 94 →
autosomal recessive limb-girdle muscular dystrophy Intellectual developmental disorder movement cerebellar
1 gene
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1 of 1 corroborated by 2+ sources
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
autosomal recessive osteopetrosis 3 Cholangitis
1 gene
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1 of 1 corroborated by 2+ sources
CA2(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Axial spondylometaphyseal dysplasia Spondylometaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
CFAP410(4)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 21 →

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