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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
Coloboma, cleft lip-palate and mental retardation syndrome Rhabdomyosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
YAP1(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Combined malonic and methylmalonic acidemia Methylmalonic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(6)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Combined malonic and methylmalonic aciduria Methylmalonic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Congenital hypoplasia of penis Cortical development malformation
1 gene
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PHF6(1)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
IL21-related infantile inflammatory bowel disease Progressive supranuclear palsy
1 gene
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1 of 1 corroborated by 2+ sources
IL21(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 338 →
immune dysregulation, autoimmunity, and autoinflammation Sezary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PLCG1(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 3 →
immunodeficiency 11b with atopic dermatitis Sezary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CARD11(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
immunodeficiency 123 with hpv-related verrucosis Sezary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD28(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Hashimoto disease immunodeficiency 60
1 gene
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1 of 1 corroborated by 2+ sources
BACH2(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
inborn disorder of cobalamin metabolism and transport Methylmalonic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
MMADHC(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Hashimoto disease Interleukin 6 quantitative trait
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(4)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Rhabdomyosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
CDKN1C(4)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Klippel-feil syndrome Multiple synostoses syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GDF6(6)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. —
Bone marrow diseases Cerebellar diseases
1 gene
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1 of 1 corroborated by 2+ sources
TINF2(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 130 →
Bundle branch block Cerebral atrophy
1 gene
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1 of 1 corroborated by 2+ sources
SETBP1(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 271 →
Hepatic veno occlusive disease Variegate porphyria
1 gene
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HFE(1)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 196 →
Anodontia Wolf-hirschhorn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 159 →
Branchiootorenal syndrome Hypercholanemia
1 gene
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1 of 1 corroborated by 2+ sources
TJP2(3)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. —
Anodontia Shwachman-diamond syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SBDS(7)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 159 →
Carney complex Skeletal muscle disorder
1 gene
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1 of 1 corroborated by 2+ sources
SDHA(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 81 →
hereditary pheochromocytoma-paraganglioma Skeletal muscle disorder
1 gene
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1 of 1 corroborated by 2+ sources
SDHA(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 81 →
Arima syndrome Congenital cystic kidney disease
1 gene
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TMEM231(1)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 8 →
Adrenal gland neoplasms Corneal edema
1 gene
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TCF4(1)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. Cluster 222 →
Anaphylaxis Bile duct calculus
1 gene
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1 of 1 corroborated by 2+ sources
ASPG(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. —
Micropenis Prostatic hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
SRD5A2(2)
0.091 0.250 1.82e-3 2.68e-3 ✓ sig. —

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