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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
Cednik syndrome Hypomyelinating leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SNAP29(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome Hypomyelinating leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SNAP29(3)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Cerebrovascular trauma West syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PHACTR1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Appendicitis Chromosome 2p16.1-p15 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
USP34(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
CNGA1-related retinopathy Spondylosis
1 gene
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1 of 1 corroborated by 2+ sources
CNGA1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Cerebellar atrophy Nasu-hakola disease
1 gene
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1 of 1 corroborated by 2+ sources
TYROBP(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Appendicitis nephronophthisis 1
1 gene
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1 of 1 corroborated by 2+ sources
NPHP1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Cerebellar atrophy neurodegeneration, childhood-onset, with cerebellar atrophy
1 gene
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1 of 1 corroborated by 2+ sources
AGTPBP1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Congenital cartilage disorder obsolete Stüve-Wiedemann syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LIFR(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Expressive language delay Lymphatic metastasis
1 gene
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1 of 1 corroborated by 2+ sources
KLF7(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
glutaryl-CoA dehydrogenase deficiency Hypomyelinating leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
GCDH(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Lipoprotein lipase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ZPR1(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 254 →
Congenital cartilage disorder Schmid metaphyseal chondrodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL10A1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Esophageal disease spinocerebellar ataxia type 2
1 gene
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1 of 1 corroborated by 2+ sources
ATXN2(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Congenital cartilage disorder Stickler syndrome, type 4
1 gene
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1 of 1 corroborated by 2+ sources
COL9A1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Intellectual developmental disorder short stature behavioral Spondylosis
1 gene
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1 of 1 corroborated by 2+ sources
IQSEC1(5)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
lamb-shaffer syndrome Spondylosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Appendicitis periventricular nodular heterotopia 7
1 gene
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1 of 1 corroborated by 2+ sources
NEDD4L(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Hypomyelinating leukodystrophy POLR1C-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
POLR1C(6)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Hypomyelinating leukodystrophy POLR3A-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(5)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Congenital nasopharyngeal atresia primary ciliary dyskinesia 1
1 gene
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1 of 1 corroborated by 2+ sources
DNAI1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 9 →
Congenital nasopharyngeal atresia primary ciliary dyskinesia 10
1 gene
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1 of 1 corroborated by 2+ sources
DNAAF2(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 9 →
Congenital nasopharyngeal atresia primary ciliary dyskinesia 11
1 gene
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1 of 1 corroborated by 2+ sources
RSPH4A(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 9 →
Congenital nasopharyngeal atresia primary ciliary dyskinesia 12
1 gene
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1 of 1 corroborated by 2+ sources
RSPH9(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 9 →
Congenital nasopharyngeal atresia primary ciliary dyskinesia 13
1 gene
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1 of 1 corroborated by 2+ sources
DNAAF1(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —

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