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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
Ataxia with oculomotor apraxia Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
1 gene
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1 of 1 corroborated by 2+ sources
LAMA1(4)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Ataxia with oculomotor apraxia Dna repair-deficiency disorders
1 gene
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1 of 1 corroborated by 2+ sources
PNKP(6)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Auditory perceptual disorder Polymorphous corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
VSX1(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 75 →
Auditory perceptual disorder Posterior polymorphous corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
VSX1(5)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 75 →
Autoinflammation with infantile enterocolitis Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RIPK1(4)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 264 →
autosomal dominant medullary cystic kidney disease with or without hyperuricemia Hyperuricemic nephropathy
1 gene
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1 of 1 corroborated by 2+ sources
UMOD(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 23 →
Bilateral microphthalmos Hallermanns syndrome
1 gene
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GJA1(1)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 92 →
Bilateral microphthalmos Schwartz-lelek syndrome
1 gene
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GJA1(1)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Autoimmune hemolytic anemia Haploinsufficiency
1 gene
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CTLA4(1)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Familial mediterranean fever Hematologic neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
ABCB1(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Hemiplegia Paroxysmal ventricular fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
DPP6(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Benign neonatal-infantile seizures Hemiplegia
1 gene
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1 of 1 corroborated by 2+ sources
SCN2A(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 165 →
Hemiplegia Woodhouse sakati syndrome
1 gene
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1 of 1 corroborated by 2+ sources
METTL8(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 165 →
Ectopic rhythm Hereditary ataxia
1 gene
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1 of 1 corroborated by 2+ sources
KCND3(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Hereditary hyperekplexia Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GPHN(3)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 379 →
Dilatation of pulmonary artery Hyperandrogenism
1 gene
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1 of 1 corroborated by 2+ sources
BMPR2(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Hyperekplexia Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GPHN(3)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 379 →
Littles disease Seizures, tonic-clonic, photosensitive
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ10(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 58 →
Immune system disorder macrothrombocytopenia, isolated
1 gene
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1 of 1 corroborated by 2+ sources
TRPM7(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 255 →
macrothrombocytopenia, isolated Vacuolar myopathy
1 gene
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1 of 1 corroborated by 2+ sources
GNE(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Butterfly-shaped pigmentary macular dystrophy Malignant peripheral nerve sheath tumor
1 gene
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1 of 1 corroborated by 2+ sources
HTRA1(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Butterfly-shaped pigmentary macular dystrophy Malignant triton tumor
1 gene
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1 of 1 corroborated by 2+ sources
HTRA1(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. —
Deletion 5q35 syndrome Myotonic dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 161 →
Congenital asplenia Myotonic dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(3)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 161 →
Neural tube defects, susceptibility to Sacral defect
1 gene
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1 of 1 corroborated by 2+ sources
VANGL1(5)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 94 →

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