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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
Benign epithelial tumor of salivary glands silver-russell syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
HMGA2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 342 →
Benign hypercalcemia neonatal severe primary hyperparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
CASR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Benign neonatal-infantile seizures neonatal-onset developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 165 →
Benign neonatal-infantile seizures neonatal encephalopathy with non-epileptic myoclonus
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 165 →
Benign samaritan congenital myopathy Malignant hyperthermia
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 326 →
Beta-hexosaminidase a deficiency Gm2 gangliosidosis
1 gene
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HEXA(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bifid nail Otopalatodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OFD1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bifid nose Culler-jones syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLI2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 212 →
Bifid nose Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLI2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 212 →
Bifid nose Bnar syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bifid uvula GRHL3-related orofacial clefting
1 gene
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1 of 1 corroborated by 2+ sources
GRHL3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bifunctional enzyme deficiency D-bifunctional protein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HSD17B4(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 99 →
Bilateral congenital mydriasis Gillespie syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ITPR1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Bilateral congenital vertical talus Congenital vertical talus
1 gene
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1 of 1 corroborated by 2+ sources
HOXD10(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Blepharoptosis Costello syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PTPN11(3), SOS1(2)
0.065 0.154 1.12e-4 3.93e-4 ✓ sig. Cluster 42 →
Agammaglobulinemia Burkitt lymphoma
2 genes
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2 of 2 corroborated by 2+ sources
PIK3R1(5), TCF3(5)
0.065 0.154 1.12e-4 3.93e-4 ✓ sig. Cluster 181 →
Substance-induced psychosis Tremor
2 genes
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HTR1A(1), ADORA2A(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. Cluster 13 →
Diabetic cardiomyopathy Potassium deficiency
2 genes
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2 of 2 corroborated by 2+ sources
INS(2), AGT(2)
0.065 0.143 1.16e-4 3.93e-4 ✓ sig. —
Congenital brain malformation Congenital pontocerebellar hypoplasia
2 genes
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CHMP1A(1), TOE1(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. —
Congenital hypoplasia of part of brain Congenital pontocerebellar hypoplasia
2 genes
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CHMP1A(1), TOE1(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. —
Congenital pontocerebellar hypoplasia Microgyria
2 genes
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CHMP1A(1), TOE1(1)
0.065 0.133 1.19e-4 3.93e-4 ✓ sig. —
Bicuspid aortic valve Hypoplastic left heart syndrome
2 genes
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2 of 2 corroborated by 2+ sources
NOTCH1(3), NKX2-5(5)
0.065 0.143 1.16e-4 3.93e-4 ✓ sig. —
Congenital anomaly of limb Vacterl association
2 genes
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2 of 2 corroborated by 2+ sources
SALL1(2), HOXD13(3)
0.065 0.125 1.20e-4 3.93e-4 ✓ sig. —
Hemorrhagic disease Thromboembolism
2 genes
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2 of 2 corroborated by 2+ sources
JAK2(2), F7(2)
0.063 0.167 1.16e-4 3.93e-4 ✓ sig. —

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