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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
Townes-brocks syndrome Vacterl association
1 gene
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1 of 1 corroborated by 2+ sources
SALL1(7)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Catalepsy Tyrosine hydroxylase–deficient dopa-responsive dystonia
1 gene
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1 of 1 corroborated by 2+ sources
TH(3)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Lymphedema Van maldergem syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DCHS1(6)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Gliosarcoma Mountain sickness
1 gene
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1 of 1 corroborated by 2+ sources
TACC1(2)
0.056 0.500 2.08e-3 2.97e-3 ✓ sig. —
Coronary aneurysm MAN1B1-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
MAN1B1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
megalencephaly-polydactyly syndrome Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Hereditary breast cancer microcephaly with intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MCPH1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
microphthalmia, syndromic 2 Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
BCOR(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Aplastic anemia mucopolysaccharidosis type 2
1 gene
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1 of 1 corroborated by 2+ sources
IDS(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
IL21-related infantile inflammatory bowel disease Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
IL21(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
immunodeficiency 25 Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
CD247(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
immunodeficiency 31b Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
immunodeficiency 63 with lymphoproliferation and autoimmunity Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
IL2RB(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Corneal dystrophy inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Interleukin 6 quantitative trait Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(3)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
INTU-related skeletal ciliopathy Orofaciodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INTU(5)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
joubert syndrome 17 Orofaciodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(7)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Azoospermia lamb-shaffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Nasodigitoacoustic syndrome Wilms tumor
1 gene
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1 of 1 corroborated by 2+ sources
GPC4(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Aplastic anemia nijmegen breakage syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NBN(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Hereditary breast cancer nijmegen breakage syndrome
1 gene
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NBN(1)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 132 →
Orofaciodigital syndrome orofaciodigital syndrome type 14
1 gene
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1 of 1 corroborated by 2+ sources
C2CD3(6)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. Cluster 8 →
Autoimmune enteropathy and endocrinopathy Polyarticular juvenile idiopathic arthritis
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Avellino corneal dystrophy Corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TGFBI(4)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —

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