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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
Cowden disease Meningioma
3 genes
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3 of 3 corroborated by 2+ sources
PTEN(6), AKT1(7), PIK3CA(7)
0.097 0.333 2.78e-7 1.81e-6 ✓ sig. —
Liver failure Proteinuria
5 genes
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5 of 5 corroborated by 2+ sources
VEGFA(2), FAS(2), POMC(2), ALB(2), IL1RN(2)
0.056 0.119 2.79e-7 1.81e-6 ✓ sig. —
Azoospermia Pemphigus vulgaris
3 genes
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0.081 0.429 2.84e-7 1.84e-6 ✓ sig. —
Congenital structural myopathy Nemaline myopathy
3 genes
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2 of 3 corroborated by 2+ sources
ANKRD1(1), NEB(7), TPM3(4)
0.107 0.250 2.93e-7 1.90e-6 ✓ sig. —
Dermatitis Eosinophilia
6 genes
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4 of 6 corroborated by 2+ sources
EMSY(1), HLA-DQA1(3), HLA-DRB1(3), SHARPIN(2), CLEC16A(1), DSG1(3)
0.041 0.158 2.96e-7 1.92e-6 ✓ sig. Cluster 16 →
Aneurysm Peripheral vascular disease
4 genes
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1 of 4 corroborated by 2+ sources
CELSR2(1), DAB2IP(2), LPA(1), PSRC1(1)
0.070 0.148 2.96e-7 1.92e-6 ✓ sig. —
Congenital pain insensitivity Paroxysmal extreme pain disorder
2 genes
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2 of 2 corroborated by 2+ sources
SCN11A(2), SCN9A(5)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 164 →
Bladder cancer Penile neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
KRAS(2), HRAS(2)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 18 →
Homocystinuria with megaloblastic anemia Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTRR(4), MTR(2)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 121 →
Neurofibromatosis Neurofibromatosis-noonan syndrome
2 genes
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2 of 2 corroborated by 2+ sources
NF1(7), SPRED1(2)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 77 →
Autoimmune polyendocrine syndrome Esophageal achalasia
2 genes
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2 of 2 corroborated by 2+ sources
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 1 →
Esophageal achalasia Oropharyngeal neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 1 →
Galactokinase deficiency Weber-cockayne syndrome
2 genes
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1 of 2 corroborated by 2+ sources
ITGB4(1), GALK1(3)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. —
Diabetes insipidus Neurogenic diabetes insipidus
2 genes
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2 of 2 corroborated by 2+ sources
AVP(3), AQP2(5)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. —
Diabetes insipidus Nephrogenic diabetes insipidus
2 genes
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2 of 2 corroborated by 2+ sources
AVP(4), AQP2(2)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. —
Dopa-responsive dystonia Dystonia, dopa-responsive, with or without hyperphenylalaninemia
2 genes
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2 of 2 corroborated by 2+ sources
GCH1(4), SPR(6)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 112 →
Basal cell nevus syndrome Gorlin syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PTCH1(4), SUFU(4)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. —
Idiopathic infantile hypercalcemia Kidney and ureter calculus
2 genes
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2 of 2 corroborated by 2+ sources
SLC34A1(6), CYP24A1(5)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 262 →
Very long chain acyl-coa dehydrogenase deficiency Yorifuji okuno syndrome
2 genes
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1 of 2 corroborated by 2+ sources
DLG4(1), ACADVL(6)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 60 →
Paroxysmal dystonic choreoathetosis Paroxysmal nonkinesigenic dyskinesia
2 genes
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1 of 2 corroborated by 2+ sources
PRRT2(3), KCNA1(1)
0.286 0.500 3.04e-7 1.95e-6 ✓ sig. Cluster 58 →
Osteomyelitis Tongue cancer
2 genes
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2 of 2 corroborated by 2+ sources
TERT(2), HLA-DQB1(2)
0.200 1.000 3.04e-7 1.95e-6 ✓ sig. Cluster 1 →
Curry-hall syndrome Ellis-van creveld syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EVC(7), EVC2(7)
0.200 1.000 3.04e-7 1.95e-6 ✓ sig. Cluster 289 →
Benign neonatal-infantile seizures Malignant migrating partial seizures of infancy
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(2), SCN2A(2)
0.200 1.000 3.04e-7 1.95e-6 ✓ sig. —
Aniridia Congenital aniridia
2 genes
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2 of 2 corroborated by 2+ sources
WT1(4), PAX6(4)
0.200 1.000 3.04e-7 1.95e-6 ✓ sig. Cluster 35 →
Aniridia Axenfeld anomaly
2 genes
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2 of 2 corroborated by 2+ sources
FOXC1(2), PITX2(2)
0.200 1.000 3.04e-7 1.95e-6 ✓ sig. —

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