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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
Down syndrome Tonic-clonic epilepsy
2 genes
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1 of 2 corroborated by 2+ sources
NTF3(2), SNAP25(1)
0.067 0.167 9.45e-5 3.36e-4 ✓ sig. —
Blepharoptosis Postsynaptic congenital myasthenic syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CHRNE(3), CHRND(3)
0.067 0.167 9.45e-5 3.36e-4 ✓ sig. —
Blepharoptosis Cardiofaciocutaneous syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PTPN11(3), SOS1(2)
0.067 0.167 9.45e-5 3.36e-4 ✓ sig. Cluster 42 →
Cachexia Mouth disease
2 genes
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2 of 2 corroborated by 2+ sources
PTGS2(2), GDF15(2)
0.067 0.167 9.45e-5 3.36e-4 ✓ sig. —
Cerebral amyloid angiopathy Conduct disorder
4 genes
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PTPRD(1), SLC7A2(1), ADH1B(1), ADH1C(1)
0.033 0.077 9.51e-5 3.38e-4 ✓ sig. —
Middle aortic syndrome Moyamoya disease
2 genes
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2 of 2 corroborated by 2+ sources
NF1(2), RNF213(6)
0.031 0.500 9.52e-5 3.38e-4 ✓ sig. Cluster 77 →
Epiphyseal dysplasia Skeletal dysplasia
2 genes
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1 of 2 corroborated by 2+ sources
SLC26A2(4), COL1A1(1)
0.063 0.200 9.53e-5 3.39e-4 ✓ sig. —
Myelomonocytic leukemia Systemic mastocytosis
2 genes
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ASXL1(1), SRSF2(1)
0.063 0.200 9.53e-5 3.39e-4 ✓ sig. —
Hemorrhagic disease Macrothrombocytopenia
2 genes
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2 of 2 corroborated by 2+ sources
TPM4(3), TUBB1(3)
0.065 0.182 9.67e-5 3.44e-4 ✓ sig. Cluster 33 →
Choroidal melanoma Uveal melanoma
2 genes
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TDP1(1), LSM3(1)
0.044 0.333 9.81e-5 3.48e-4 ✓ sig. —
Breast disease Triple negative breast cancer
2 genes
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CCDC91(1), PTHLH(1)
0.050 0.286 9.87e-5 3.50e-4 ✓ sig. —
Dysthymic disorder Panic disorder
2 genes
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CRH(1), MAOA(1)
0.050 0.286 9.87e-5 3.50e-4 ✓ sig. Cluster 156 →
Dupuytren contracture Primary angle closure glaucoma
3 genes
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GLIS3(1), EPDR1(1), SFRP4(1)
0.029 0.188 9.90e-5 3.51e-4 ✓ sig. —
Dental enamel hypoplasia Renal agenesis
2 genes
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2 of 2 corroborated by 2+ sources
DHX37(2), ROBO1(2)
0.067 0.133 1.05e-4 3.74e-4 ✓ sig. —
Hypercalciuria Teratozoospermia
2 genes
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1 of 2 corroborated by 2+ sources
DCAF6(1), ADCY10(5)
0.057 0.222 1.06e-4 3.75e-4 ✓ sig. —
Fatty liver Trifunctional protein deficiency
2 genes
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2 of 2 corroborated by 2+ sources
HADHA(2), HADHB(2)
0.021 0.667 1.08e-4 3.83e-4 ✓ sig. —
Bone disease Dupuytren contracture
5 genes
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1 of 5 corroborated by 2+ sources
JAG1(3), FMN2(1), ZBTB40(1), SFRP4(1), STARD3NL(1)
0.030 0.061 1.11e-4 3.93e-4 ✓ sig. Cluster 299 →
Desmoplastic small round cell tumor Drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Desmoplastic small round cell tumor wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Deuteranomaly red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
developmental and epileptic encephalopathy, 50 Hypoplastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 168 →
Developmental delay with dysmorphic facies and dental anomalies Intellectual developmental disorder seizures extrapyramidal
1 gene
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1 of 1 corroborated by 2+ sources
SATB1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Developmental delay with language impairment and movement disorder Intellectual developmental disorder language neurodegenerative
1 gene
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1 of 1 corroborated by 2+ sources
NR4A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 275 →
diamond-blackfan anemia 6 Ovarian agenesis
1 gene
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1 of 1 corroborated by 2+ sources
RPL5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 236 →
diamond-blackfan anemia 6 Erythroid hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
RPL5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 236 →

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