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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
Intracranial aneurysm Intracranial arteriovenous malformation
2 genes
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1 of 2 corroborated by 2+ sources
IL6(2), ENG(1)
0.118 0.667 2.66e-6 1.44e-5 ✓ sig. —
Bone osteosarcoma Hereditary breast and ovarian cancer syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CHEK2(2), TP53(2)
0.118 0.667 2.66e-6 1.44e-5 ✓ sig. —
Congenital fibrosis of extraocular muscles Cortical development malformation
3 genes
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3 of 3 corroborated by 2+ sources
HRAS(2), TUBB2B(4), TUBA1A(2)
0.073 0.188 2.65e-6 1.44e-5 ✓ sig. Cluster 176 →
Maffucci syndrome Promyelocytic leukemia
3 genes
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3 of 3 corroborated by 2+ sources
IDH2(3), IDH1(4), PTPN11(2)
0.053 0.333 2.67e-6 1.45e-5 ✓ sig. —
Mitochondrial dna depletion syndrome Mitochondrial myopathy
3 genes
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3 of 3 corroborated by 2+ sources
RRM2B(6), SLC25A4(6), TK2(6)
0.071 0.200 2.69e-6 1.46e-5 ✓ sig. —
Leukodystrophy Tremor-ataxia-central hypomyelination syndrome
2 genes
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1 of 2 corroborated by 2+ sources
POLR3B(1), POLR3A(2)
0.074 1.000 2.74e-6 1.49e-5 ✓ sig. —
Cowchock syndrome Leukodystrophy
2 genes
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1 of 2 corroborated by 2+ sources
AIFM1(2), RAB33A(1)
0.074 1.000 2.74e-6 1.49e-5 ✓ sig. —
Amino acid metabolism disorder propionic acidemia
2 genes
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2 of 2 corroborated by 2+ sources
PCCA(2), PCCB(2)
0.074 1.000 2.74e-6 1.49e-5 ✓ sig. Cluster 83 →
Congenital stationary night blindness Retinal degeneration
3 genes
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3 of 3 corroborated by 2+ sources
PDE6B(4), RHO(4), GNAT1(4)
0.064 0.250 2.77e-6 1.50e-5 ✓ sig. —
Anhydramnios Caroli disease
2 genes
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2 of 2 corroborated by 2+ sources
PKD1(2), PKHD1(3)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 157 →
Anterior polar cataract Lamellar cataract
2 genes
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2 of 2 corroborated by 2+ sources
CRYAA(2), CRYGB(2)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 43 →
Cardiovascular abnormalities Paroxysmal atrial fibrillation
2 genes
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KCNQ1(1), MYBPC3(1)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. —
Leopard syndrome Neurofibromatosis-noonan syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PTPN11(5), MAP2K2(2)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. —
Macrothrombocytopenia Thrombasthenia
2 genes
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2 of 2 corroborated by 2+ sources
ITGB3(3), ITGA2B(3)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 33 →
Melanocytic nevus Penile neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
TP53(2), HRAS(2)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 18 →
Paroxysmal atrial fibrillation Short qt syndrome
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ1(6), CACNA2D1(2)
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. —
Autoimmune polyendocrine syndrome Cutaneous lupus erythematosus
2 genes
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2 of 2 corroborated by 2+ sources
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 1 →
Autoimmune polyendocrine syndrome Gastroparesis
2 genes
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2 of 2 corroborated by 2+ sources
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 1 →
Esophageal achalasia Gastroparesis
2 genes
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2 of 2 corroborated by 2+ sources
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 1 →
Gastroparesis Oropharyngeal neoplasms
2 genes
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2 of 2 corroborated by 2+ sources
0.143 0.500 2.78e-6 1.51e-5 ✓ sig. Cluster 1 →
Secondary malignant neoplasm Systemic mastocytosis
3 genes
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HBE1(1), HBG2(1), OR51B5(1)
0.075 0.158 2.78e-6 1.51e-5 ✓ sig. Cluster 235 →
Retinopathy of prematurity Syndactyly
3 genes
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2 of 3 corroborated by 2+ sources
GLI3(2), IHH(1), FZD4(3)
0.075 0.150 2.84e-6 1.54e-5 ✓ sig. —
Generalized epilepsy Myoclonic epilepsy
4 genes
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3 of 4 corroborated by 2+ sources
GABRA2(1), JRK(3), SCN1A(3), CACNB4(3)
0.047 0.167 2.88e-6 1.56e-5 ✓ sig. —
Congenital epicanthus Esophageal atresia
3 genes
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ATP1A3(1), TCF4(1), KCNA6(1)
0.068 0.214 2.92e-6 1.58e-5 ✓ sig. Cluster 238 →
Eating disorder Willis-ekbom disease
8 genes
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ASB3(1), CRBN(1), MGMT(1), ROBO2(1), SEMA6D(1), SUMF1(1), CADM1(1), LRMDA(1)
0.031 0.111 2.94e-6 1.59e-5 ✓ sig. —

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