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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
Congenital malformation syndromes predominantly involving limbs Klippel-trenaunay syndrome
2 genes
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DLX5(1), SMOC1(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Benign hereditary chorea Choreatic disease
2 genes
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2 of 2 corroborated by 2+ sources
ADCY5(3), NKX2-1(3)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Focal cortical dysplasia Polycystic kidney disease with tuberous sclerosis
2 genes
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2 of 2 corroborated by 2+ sources
PKD1(2), TSC2(4)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 70 →
Focal cortical dysplasia Polycystic kidneys, severe infantile with tuberous sclerosis
2 genes
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1 of 2 corroborated by 2+ sources
PKD1(1), TSC2(3)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 70 →
Hallermanns syndrome Hallervorden spatz syndrome
2 genes
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2 of 2 corroborated by 2+ sources
GJA1(2), CHD6(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 92 →
Hyper-igm immunodeficiency syndrome Hyper-immunoglobulin syndrome
2 genes
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2 of 2 corroborated by 2+ sources
AICDA(6), CD40(6)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 131 →
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema Hyper-igm immunodeficiency syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Autoinflammatory disease, systemic, x-linked Hyper-igm immunodeficiency syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(3)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Bloch sulzberger syndrome Hyper-igm immunodeficiency syndrome
2 genes
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G6PD(1), IKBKG(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Blue rubber bleb nevus syndrome Congenital venous anomaly
2 genes
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1 of 2 corroborated by 2+ sources
GLMN(1), TEK(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 261 →
Branchiooculofacial syndrome Branchiootorenal syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TFAP2A(5), EYA1(5)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 145 →
Branchiootic syndrome Branchiootorenal syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EYA1(6), SIX1(8)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 145 →
Branchiootorenal syndrome Otofaciocervical syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EYA1(6), PAX1(7)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 145 →
Candle syndrome Proteasome associated autoinflammatory syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PSMB8(6), PSMB4(4)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Cataract-intellectual disability-hypogonadism syndrome Cryptophthalmos syndrome
2 genes
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2 of 2 corroborated by 2+ sources
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 48 →
Cataract-intellectual disability-hypogonadism syndrome Cyclocephaly
2 genes
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2 of 2 corroborated by 2+ sources
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 48 →
Iron overload Vitreoretinochoroidopathy
2 genes
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2 of 2 corroborated by 2+ sources
BEST1(5), FTH1(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Klippel-trenaunay syndrome Port-wine stain
2 genes
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2 of 2 corroborated by 2+ sources
GNAQ(2), RASA1(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 40 →
Capillary-lymphatic-venous malformation Klippel-trenaunay syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PIK3CA(2), AGGF1(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Chloracne Methemoglobinemia
3 genes
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3 of 3 corroborated by 2+ sources
HBA1(5), HBA2(3), HBB(4)
0.081 0.500 1.79e-7 1.19e-6 ✓ sig. Cluster 72 →
46,xx ovotesticular disorder of sex development Testicular azoospermia
3 genes
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2 of 3 corroborated by 2+ sources
NR5A1(1), DMRT1(2), MCM9(2)
0.081 0.500 1.79e-7 1.19e-6 ✓ sig. —
Developmental delay Postaxial polydactyly
4 genes
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ND2(1), COX3(1), ND5(1), ND4(1)
0.071 0.190 1.83e-7 1.22e-6 ✓ sig. Cluster 32 →
Adult myoclonic epilepsy Myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
RAPGEF2(3), TNRC6A(3), SAMD12(3)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. —
Familial adult myoclonic epilepsy Myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
RAPGEF2(5), TNRC6A(5), SAMD12(5)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. —
Familial focal epilepsy with variable foci Progressive myoclonic epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
DEPDC5(5), NPRL2(5), NPRL3(5)
0.100 0.375 1.85e-7 1.23e-6 ✓ sig. —

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