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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
Anterior maxillary protrusion-strabismus-intellectual disability syndrome Intellectual disability, anterior maxillary protrusion, and strabismus
1 gene
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1 of 1 corroborated by 2+ sources
SOBP(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Anterior pituitary function deficiency with variable immunodeficiency immunodeficiency, common variable, 10
1 gene
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1 of 1 corroborated by 2+ sources
NFKB2(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
anterior segment dysgenesis 4 Ring dermoid of cornea
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 253 →
Antibody deficiency immunodeficiency, common variable, 3
1 gene
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1 of 1 corroborated by 2+ sources
CD19(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Aplasia cutis-enamel dysplasia syndrome Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FOSL2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Aplasia of lacrimal and salivary glands Salivary gland agenesis
1 gene
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1 of 1 corroborated by 2+ sources
FGF10(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Apolipoprotein a-ii amyloidosis Apolipoprotein a-ii deficiency
1 gene
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1 of 1 corroborated by 2+ sources
APOA2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Arginine vasopressin deficiency Hereditary arginine vasopressin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
AVP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Growth retardation, mild developmental delay, chronic hepatitis syndrome SH2B3-related immune system disorder
1 gene
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1 of 1 corroborated by 2+ sources
SH2B3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
GUCY2D-related dominant retinopathy GUCY2D-related recessive retinopathy
1 gene
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GUCY2D(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 45 →
hand-foot-genital syndrome Uterine bilocularis
1 gene
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1 of 1 corroborated by 2+ sources
HOXA13(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Hartsfield-Bixler-Demyer syndrome Osteoglophonic dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FGFR1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 185 →
hearing loss, autosomal recessive 119 Sensorineural hearing loss-spastic quadriplegia–intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
AFG2B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Hecht syndrome Trismus-pseudocamptodactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH8(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Hemihyperplasia silver-russell syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
IGF2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Clapo syndrome Hemihyperplasia multiple lipomatosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Hemihyperplasia multiple lipomatosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital intestinal duplication Hemihyperplasia multiple lipomatosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital macrodactylia Hemihyperplasia multiple lipomatosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Congenital malformation syndromes involving early overgrowth Hemihyperplasia multiple lipomatosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
hemochromatosis type 5 neurodegeneration with brain iron accumulation 9
1 gene
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FTH1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Hemoglobin c beta thalassemia Hemoglobin c disease
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c beta thalassemia Hemoglobin d disease
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c beta thalassemia Hemoglobin e beta thalassemia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c disease Hemoglobin d disease
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →

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