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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
Anorectal malformation X-linked dyskeratosis congenita
1 gene
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1 of 1 corroborated by 2+ sources
RTEL1(2)
0.059 0.500 1.95e-3 2.83e-3 ✓ sig. —
Anorectal malformation Diffuse panbronchiolitis
1 gene
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1 of 1 corroborated by 2+ sources
MUC5B(2)
0.059 0.500 1.95e-3 2.83e-3 ✓ sig. Cluster 197 →
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 →
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. —
Caudate atrophy Cerebellar atrophy
1 gene
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TYROBP(1)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
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. —
Hypomyelinating leukodystrophy VPS11-related neurological disorder
1 gene
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1 of 1 corroborated by 2+ sources
VPS11(7)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 100 →
Hypomyelinating leukodystrophy Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 14
1 gene
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1 of 1 corroborated by 2+ sources
UFM1(5)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 100 →
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 16
1 gene
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1 of 1 corroborated by 2+ sources
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 17
1 gene
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1 of 1 corroborated by 2+ sources
AIMP2(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 100 →
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 18
1 gene
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1 of 1 corroborated by 2+ sources
DEGS1(5)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 100 →
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 21
1 gene
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1 of 1 corroborated by 2+ sources
POLR3K(5)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 100 →
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 22
1 gene
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1 of 1 corroborated by 2+ sources
CLDN11(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. Cluster 100 →
Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 25
1 gene
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1 of 1 corroborated by 2+ sources
TMEM163(5)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Cerebellar atrophy microcephaly, seizures, and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
PNKP(2)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —

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