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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
Amino acid metabolism disorder Phosphoserine phosphatase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSPH(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leukodystrophy POLR3A-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leukodystrophy POLR3B-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
POLR3B(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Hydrocephalus primary ciliary dyskinesia 5
1 gene
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1 of 1 corroborated by 2+ sources
HYDIN(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Arthritis Primary immunodeficiency with defective natural killer cell cytotoxicity
1 gene
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1 of 1 corroborated by 2+ sources
FCGR3A(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 1 →
Amino acid metabolism disorder pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK4(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder Guanidinoacetate methyltransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GAMT(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder Hmg-coa lyase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HMGCL(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder Hydroxymethylglutaryl-coa lyase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HMGCL(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
1 gene
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1 of 1 corroborated by 2+ sources
AHCY(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 83 →
hypomyelinating leukodystrophy 9 Leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
RARS1(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 100 →
Coloboma, cleft lip-palate and mental retardation syndrome Congenital ocular coloboma
1 gene
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YAP1(1)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
colobomatous microphthalmia-rhizomelic dysplasia syndrome Congenital ocular coloboma
1 gene
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1 of 1 corroborated by 2+ sources
MAB21L2(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Congenital plasminogen activator inhibitor deficiency type 1 Urethral obstruction
1 gene
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1 of 1 corroborated by 2+ sources
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Continuous spike and wave during sleep syndrome Language development disorders
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder Coronary vessel anomalies
1 gene
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1 of 1 corroborated by 2+ sources
GCLC(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Cortical dysplasia-focal epilepsy syndrome Language development disorders
1 gene
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1 of 1 corroborated by 2+ sources
CNTNAP2(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 179 →
craniosynostosis 4 Language development disorders
1 gene
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1 of 1 corroborated by 2+ sources
ERF(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Creutzfeldt-jakob disease SRD5A3-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
SRD5A3(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 158 →
Bradycardia Cyp2d6 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP2D6(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 13 →
Amino acid metabolism disorder Cystathioninuria
1 gene
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1 of 1 corroborated by 2+ sources
CTH(6)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 83 →
Deafness with congenital and adult-onset progressive leukodystrophy Leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
KARS1(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
developmental and epileptic encephalopathy, 29 Leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder Developmental delay due to metabolic enzyme deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ALDH6A1(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Developmental delay with dysmorphic facies and brain anomalies Leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
U2AF2(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 100 →

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