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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
Appendicitis Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
1 gene
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1 of 1 corroborated by 2+ sources
PPP3CA(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Autosomal recessive hypomyelinating leukodystrophy Hypomyelinating leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
HIKESHI(7)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Beta-ureidopropionase deficiency West syndrome
1 gene
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1 of 1 corroborated by 2+ sources
UPB1(6)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 328 →
Comp-related skeletal dysplasia Congenital cartilage disorder
1 gene
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1 of 1 corroborated by 2+ sources
COMP(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Compton-north congenital myopathy Spondylosis
1 gene
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1 of 1 corroborated by 2+ sources
CNTN1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Cerebellar atrophy Congenital cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
OXR1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 239 →
congenital disorder of glycosylation, type iit Lipoprotein lipase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GALNT2(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 254 →
Congenital lethal myopathy Spondylosis
1 gene
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1 of 1 corroborated by 2+ sources
CNTN1(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Bone dysplasia with increased bone density Congenital cartilage disorder
1 gene
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SOST(1)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Camptodactyly Esophageal disease
1 gene
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1 of 1 corroborated by 2+ sources
TLN2(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
12p12.1 microdeletion syndrome Spondylosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Antecubital pterygium syndrome Lipoprotein lipase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSD3(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Apolipoprotein a5 deficiency Lipoprotein lipase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
APOA5(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 254 →
Aplastic anemia Esophageal atresia
2 genes
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1 of 2 corroborated by 2+ sources
TERT(5), GSTM1(1)
0.032 0.063 2.00e-3 2.90e-3 ✓ sig. —
Fanconi anemia complementation group A Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FANCA(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Dermatomyositis Fanconi anemia complementation group C
1 gene
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1 of 1 corroborated by 2+ sources
FANCC(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
fanconi anemia complementation group d2 Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FANCD2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
fanconi anemia complementation group g Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FANCG(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
fanconi anemia complementation group p Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLX4(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy FDXR-related optic atrophy mitochondrial dysfunction syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FDXR(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly FOXG1 disorder
1 gene
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1 of 1 corroborated by 2+ sources
FOXG1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
frontorhiny Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ALX3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
frontotemporal dementia and/or amyotrophic lateral sclerosis Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
GRN(6)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Gallbladder agenesis Hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Gestational trophoblastic disease Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
POU5F1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —

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