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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
Arginine vasopressin deficiency Shy-drager syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AVP(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
IFIH1-related type 1 interferonopathy Selective immunoglobulin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IFIH1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 360 →
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Insulin dependent diabetes mellitus secretory diarrhea syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FOXP3(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
immunodeficiency 123 with hpv-related verrucosis Mycosis fungoides
1 gene
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1 of 1 corroborated by 2+ sources
CD28(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
immunodeficiency 14 Roifman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 181 →
immunodeficiency 14b, autosomal recessive Roifman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 181 →
Episodic kinesigenic dyskinesia infantile convulsions and choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
PRRT2(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 58 →
Insulinomatosis and diabetes mellitus Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAFA(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Intellectual developmental disorder behavioral dysmorphic Potocki-shaffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PHF21A(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 93 →
Intellectual developmental disorder dysmorphic strabismus Intellectual disability with strabismus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ADAT3(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 295 →
Intellectual developmental disorder microcephaly strabismus behaviora White sutton syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POGZ(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 142 →
Intellectual developmental disorder movement cerebellar Triple a syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 295 →
joubert syndrome 3 Selective immunoglobulin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
AHI1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 360 →
KAT6B-related multiple congenital anomalies syndrome Neuropathic spinal arthropathy
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
KCNH1 associated disorder Zimmermann-laband syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNH1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Kenny-caffey syndrome Osteocraniostenosis
1 gene
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1 of 1 corroborated by 2+ sources
FAM111A(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Kenny-caffey syndrome Sanjad-sakati syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBCE(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 108 →
Keratitis ichthyosis hearing loss syndrome Keratitis-ichthyosis-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Keratosis follicularis spinulosa decalvans Tricuspid atresia
1 gene
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1 of 1 corroborated by 2+ sources
LRP1(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 194 →
Keratosis follicularis spinulosa decalvans pediatric systemic lupus erythematosus
1 gene
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1 of 1 corroborated by 2+ sources
SAT1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 194 →
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Keratosis follicularis spinulosa decalvans
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Achondroplasia Lacrimoauriculodentodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Camptodactyly, tall stature, and hearing loss syndrome Lacrimoauriculodentodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Achondroplasia Ladd syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Camptodactyly, tall stature, and hearing loss syndrome Ladd syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —

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