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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
46, xy disorder of sex development 46,xx sex reversal
1 gene
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1 of 1 corroborated by 2+ sources
NR5A1(3)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. Cluster 38 →
Acne inversa Dowling degos disease
1 gene
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1 of 1 corroborated by 2+ sources
PSENEN(4)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. Cluster 116 →
Apnea Hereditary hyperekplexia
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A5(4)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Intracranial thrombosis Three-vessel coronary artery disease
1 gene
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1 of 1 corroborated by 2+ sources
ABO(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Aortic rupture Torg-winchester syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MMP2(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Clonal cytopenia of undetermined significance Upper extremity fracture
1 gene
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1 of 1 corroborated by 2+ sources
ARID1A(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Aortic rupture Combined deficiency of vitamin k-dependent clotting factors
1 gene
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1 of 1 corroborated by 2+ sources
VKORC1(5)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Blepharophimosis-intellectual disability syndrome Intellectual developmental disorder speech dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA2(5)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
lissencephaly spectrum disorders Sotos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
APC2(3)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Littles disease Selective immunoglobulin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IFIH1(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Littles disease Spastic paraplegia, x-linked
1 gene
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SPAST(1)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Male breast carcinoma Myelogenous leukemia
1 gene
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CCDC170(1)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Biliary tract neoplasms Male breast carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
PRKACB(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Autoimmune hemolytic anemia Mycosis fungoides
1 gene
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1 of 1 corroborated by 2+ sources
CTLA4(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Bilateral microphthalmos Non-syndromic cataract
1 gene
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1 of 1 corroborated by 2+ sources
EPHA2(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Constipation Orthostatic hypotension
1 gene
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1 of 1 corroborated by 2+ sources
OPRM1(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Childhood-onset epilepsy syndrome Frontal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
KCNT1(3)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. Cluster 273 →
Choanal atresia syndrome Vissers-bodmer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KMT2D(4)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. Cluster 144 →
Chromosome 3p25 monosomy Disruptive impulse-control and conduct disorder
1 gene
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1 of 1 corroborated by 2+ sources
OXTR(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Growth hormone-secreting pituitary adenoma Primary bilateral macronodular adrenal hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
GNAS(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Disruptive impulse-control and conduct disorder Rippling muscle disease
1 gene
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OXTR(1)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Ataxia with oculomotor apraxia Tay-sachs disease
1 gene
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SETX(1)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
Benign adult familial myoclonic epilepsy Cyanosis
1 gene
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1 of 1 corroborated by 2+ sources
ADRA2B(2)
0.125 0.333 9.74e-4 1.67e-3 ✓ sig. —
ARHGAP29-related non-syndromic orofacial cleft Cleft lip and palate
1 gene
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1 of 1 corroborated by 2+ sources
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Autoinflammation, antibody deficiency, and immune dysregulation Cor pulmonale
1 gene
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1 of 1 corroborated by 2+ sources
PLCG2(6)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —

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