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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
Brainstem atrophy Congenital neurologic anomalies
1 gene
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MCOLN1(1)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Ovarian epithelial cancer Riboflavin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC52A1(4)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Lymphocytic leukemia Sebaceous gland neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
LEF1(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Lymphocytic leukemia severe combined immunodeficiency due to CD70 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CD70(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Lymphocytic leukemia Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PISD(3)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Congenital neurologic anomalies SRD5A3-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
SRD5A3(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Congenital hereditary facial paralysis with variable hearing loss syndrome Congenital neurologic anomalies
1 gene
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1 of 1 corroborated by 2+ sources
HOXB1(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Congenital neurologic anomalies fucosidosis
1 gene
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1 of 1 corroborated by 2+ sources
FUCA1(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. Cluster 6 →
Lymphocytic leukemia Partial corpus callosum agenesis
1 gene
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1 of 1 corroborated by 2+ sources
KPNA7(3)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
liberfarb syndrome Lymphocytic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
PISD(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
maternal riboflavin deficiency Ovarian epithelial cancer
1 gene
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1 of 1 corroborated by 2+ sources
SLC52A1(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
mitochondrial trifunctional protein deficiency Non-small cell lung carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
HADHB(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Lymphocytic leukemia mucopolysaccharidosis type 6
1 gene
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1 of 1 corroborated by 2+ sources
ARSB(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Athabaskan brainstem dysgenesis Congenital neurologic anomalies
1 gene
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1 of 1 corroborated by 2+ sources
HOXA1(4)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
autoimmune lymphoproliferative syndrome type 2A Lymphocytic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
CASP10(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
autosomal dominant combined immunodeficiency due to ERBIN deficiency Non-small cell lung carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
ERBIN(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
autosomal recessive osteopetrosis 6 Ovarian epithelial cancer
1 gene
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1 of 1 corroborated by 2+ sources
PLEKHM1(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
BBS12-related ciliopathy Congenital neurologic anomalies
1 gene
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1 of 1 corroborated by 2+ sources
BBS12(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Beukes hip dysplasia Congenital neurologic anomalies
1 gene
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1 of 1 corroborated by 2+ sources
UFSP2(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Congenital neurologic anomalies Intellectual developmental disorder dysmorphic brain
1 gene
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1 of 1 corroborated by 2+ sources
TRAPPC9(4)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Congenital neurologic anomalies Intellectual developmental disorder dysmorphic cardiac
1 gene
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1 of 1 corroborated by 2+ sources
TMEM94(5)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. Cluster 6 →
Intellectual developmental disorder dysmorphic macrocephaly Lymphocytic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Laryngo-onycho-cutaneous syndrome Ovarian epithelial cancer
1 gene
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1 of 1 corroborated by 2+ sources
LAMA3(6)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
CTR9-related neurodevelopmental disorder Ovarian epithelial cancer
1 gene
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1 of 1 corroborated by 2+ sources
CTR9(2)
0.009 1.000 7.47e-3 8.76e-3 ✓ sig. —
Congenital myasthenic syndrome Cystinuria
1 gene
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1 of 1 corroborated by 2+ sources
PREPL(2)
0.030 0.250 7.51e-3 8.81e-3 ✓ sig. —

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