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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
Megacystis microcolon intestinal hypoperistalsis syndrome microcephaly with lissencephaly and/or hydranencephaly
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 220 →
Megacystis microcolon intestinal hypoperistalsis syndrome Microhydranencephaly
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 220 →
Mucoepidermoid carcinoma Testicular neoplasms
1 gene
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BAP1(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 389 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 91 →
Boucher-neuhauser syndrome Mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 91 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 91 →
Mucolipidosis Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 91 →
Mucolipidosis retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 91 →
Congenital muscular dystrophy due to dystroglycanopathy muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
1 gene
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1 of 1 corroborated by 2+ sources
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Hallervorden spatz syndrome Palmoplantar keratoderma with congenital alopecia
1 gene
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1 of 1 corroborated by 2+ sources
GJA1(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 92 →
Hallervorden spatz syndrome PLA2G6-associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
PLA2G6(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Hallervorden spatz syndrome Pantothenate kinase-associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
PANK2(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 92 →
hearing loss, autosomal recessive 116 Pendred syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CLDN9(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Carney complex Hecht syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH8(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Heme oxygenase deficiency Intracranial vasospasm
1 gene
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1 of 1 corroborated by 2+ sources
HMOX1(7)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 371 →
Hemihyperplasia Russell-silver syndrome
1 gene
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IGF2(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Hemimegalencephaly PTEN hamartoma tumor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Clapo syndrome Hemimegalencephaly
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
hemochromatosis type 1 Hepatic veno occlusive disease
1 gene
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1 of 1 corroborated by 2+ sources
HFE(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 196 →
hemochromatosis type 2B Hereditary hemochromatosis
1 gene
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1 of 1 corroborated by 2+ sources
HAMP(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 135 →
hemochromatosis type 2B Iron overload
1 gene
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1 of 1 corroborated by 2+ sources
HAMP(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
hemochromatosis type 3 Hereditary hemochromatosis
1 gene
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1 of 1 corroborated by 2+ sources
TFR2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 135 →
hemochromatosis type 4 Hereditary hemochromatosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC40A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
hemochromatosis type 4 Iron overload
1 gene
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1 of 1 corroborated by 2+ sources
SLC40A1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 231 →
hemochromatosis type 5 Iron overload
1 gene
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1 of 1 corroborated by 2+ sources
FTH1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —

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