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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
Methylmalonic acidemia methylmalonic acidemia due to transcobalamin receptor defect
1 gene
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1 of 1 corroborated by 2+ sources
CD320(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Methylmalonic acidemia methylmalonic acidemia with homocystinuria, type cblJ
1 gene
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1 of 1 corroborated by 2+ sources
ABCD4(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 246 →
Methylmalonic acidemia methylmalonic aciduria and homocystinuria type cblF
1 gene
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1 of 1 corroborated by 2+ sources
LMBRD1(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Methylmalonic acidemia methylmalonic aciduria, cblA type
1 gene
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1 of 1 corroborated by 2+ sources
MMAA(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Methylmalonic acidemia methylmalonic aciduria, cblb type
1 gene
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1 of 1 corroborated by 2+ sources
MMAB(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Cortical development malformation microcephaly 2, primary, autosomal recessive, with or without cortical malformations
1 gene
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1 of 1 corroborated by 2+ sources
WDR62(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
microphthalmia, syndromic 2 Rhabdomyosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
BCOR(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
mosaic variegated aneuploidy syndrome 1 Rhabdomyosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
BUB1B(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Multiple epiphyseal dysplasia with early-onset diabetes mellitus Progressive supranuclear palsy
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK3(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 338 →
Aneurysm multisystemic smooth muscle dysfunction syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTA2(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Bladder exstrophy and epispadias complex
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 27 →
Ankyloblepharon-ectodermal defects-cleft lip/palate Bladder exstrophy and epispadias complex
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 27 →
Borjeson-forssman-lehmann syndrome Cortical development malformation
1 gene
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1 of 1 corroborated by 2+ sources
PHF6(7)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Hepatolenticular degeneration
1 gene
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1 of 1 corroborated by 2+ sources
SASH1(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Hashimoto disease hyper-IgE recurrent infection syndrome 5, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Hyperinsulinism-hyperammonemia syndrome Hypoglycemia
1 gene
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1 of 1 corroborated by 2+ sources
GLUD1(5)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 36 →
Hepatolenticular degeneration hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
1 gene
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1 of 1 corroborated by 2+ sources
AHCY(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Hypoglycemia hypoinsulinemic hypoglycemia and body hemihypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
AKT2(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Ruijs-aalfs syndrome Teratozoospermia
1 gene
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1 of 1 corroborated by 2+ sources
SPRTN(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 31 →
Bladder exstrophy and epispadias complex Schopf-schulz-passarge syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WNT10A(3)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Rhabdomyosarcoma Sertoli-leydig cell tumor of ovary
1 gene
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1 of 1 corroborated by 2+ sources
DICER1(4)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Rhabdomyosarcoma SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
Rhabdomyosarcoma SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. —
severe combined immunodeficiency due to CARD11 deficiency 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. —
Sezary syndrome snijders blok-campeau syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD3(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 3 →

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