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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
Combined immunodeficiency disease severe combined immunodeficiency due to CD70 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CD70(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease severe combined immunodeficiency due to CTPS1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CTPS1(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 10 →
Ehlers-danlos syndrome severe combined immunodeficiency due to DCLRE1C deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DCLRE1C(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease severe combined immunodeficiency due to IKK2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IKBKB(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease severe combined immunodeficiency due to LCK deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LCK(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 10 →
Salivary gland neoplasms SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
1 gene
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1 of 1 corroborated by 2+ sources
SOX11(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Dystonia Sterol carrier protein 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SCP2(5)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Dystonia succinic semialdehyde dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ALDH5A1(3)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease t-cell immunodeficiency, congenital alopecia, and nail dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FOXN1(3)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 10 →
PDE6A-related retinopathy Usher syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PDE6A(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 26 →
perrault syndrome 2 Usher syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HARS2(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
1 gene
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1 of 1 corroborated by 2+ sources
ARPC1B(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Macular dystrophy RDH12-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RDH12(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Macular dystrophy RDH12-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RDH12(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
CERKL-related retinopathy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CERKL(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 7 →
Cervical dystonia Dystonia
1 gene
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1 of 1 corroborated by 2+ sources
CIZ1(3)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 167 →
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Dystonia
1 gene
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1 of 1 corroborated by 2+ sources
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
CNGA1-related retinopathy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGA1(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 7 →
CNGA3-related retinopathy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGA3(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
CNGB3-related retinopathy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGB3(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease lymphoproliferative syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
ITK(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease lymphoproliferative syndrome 2
1 gene
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1 of 1 corroborated by 2+ sources
CD27(3)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
macular corneal dystrophy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CHST6(4)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 7 →
megalencephalic leukoencephalopathy with subcortical cysts 1 Salivary gland neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
MLC1(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Usher syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KIF11(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —

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