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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
Brachycephaly Congenital central hypothyroidism
1 gene
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TRHR(1)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Congenital cleft hand Ectrodactyly
1 gene
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1 of 1 corroborated by 2+ sources
DLX5(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Colchicine resistance Congenital dyserythropoietic anemia
1 gene
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1 of 1 corroborated by 2+ sources
ABCB1(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 57 →
Congenital dyserythropoietic anemia glutaryl-CoA dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCDH(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Congenital hypoplasia of pancreas monogenic diabetes
1 gene
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1 of 1 corroborated by 2+ sources
PDX1(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Congenital microtia Headache
1 gene
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1 of 1 corroborated by 2+ sources
PRKRA(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 126 →
developmental and epileptic encephalopathy, 50 Spherocytosis
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 168 →
Developmental delay with immunodeficiency syndrome Keratosis
1 gene
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1 of 1 corroborated by 2+ sources
NFE2L2(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Developmental delay with immunodeficiency syndrome Vascular system injury
1 gene
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1 of 1 corroborated by 2+ sources
NFE2L2(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency monogenic diabetes
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ11(4)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Atrophy Dicarboxylic aminoaciduria
1 gene
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1 of 1 corroborated by 2+ sources
SLC1A1(7)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 205 →
Dna ligase iv deficiency Omenn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LIG4(5)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum Dwarfism
1 gene
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1 of 1 corroborated by 2+ sources
DONSON(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 171 →
Delirium Dopamine transporter deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A3(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Dosage-sensitive sex reversal Swyer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NR0B1(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Dwarfism SIN3A-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Dwarfism Microcephalic dwarfism
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Delirium Dysbetalipoproteinemia
1 gene
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1 of 1 corroborated by 2+ sources
APOE(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Ehlers-Danlos syndrome, spondylocheirodysplastic type Tooth abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 74 →
Endometrioid carcinoma Pleural diseases
1 gene
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1 of 1 corroborated by 2+ sources
MSLN(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 126 →
Epidermolysis bullosa simplex Tongue neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
KRT14(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 269 →
Swyer syndrome Testicular regression syndrome
1 gene
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DHX37(1)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 38 →
Iron deficiency anemia TFRC-related combined immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
TFRC(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 227 →
Myelomonocytic leukemia thrombocytopenia 5
1 gene
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1 of 1 corroborated by 2+ sources
ETV6(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Cataract-corneal dystrophy syndrome Tooth abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 74 →

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