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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
IMPG1-related recessive retinopathy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
IMPG1(4)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
IMPG2-related recessive retinopathy Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
IMPG2(3)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease Intellectual developmental disorder dysmorphic skeletal hair
1 gene
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1 of 1 corroborated by 2+ sources
BCL11B(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Intellectual developmental disorder microcephaly ocular Salivary gland neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
SOX11(4)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease Intellectual developmental disorder speech dysmorphic t-cell
1 gene
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1 of 1 corroborated by 2+ sources
BCL11B(5)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease Interleukin 6 quantitative trait
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(4)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Diffuse gastric and lobular breast cancer syndrome Macular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CTNNA1(4)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease Dock2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DOCK2(5)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Ehlers-danlos syndrome ehlers-danlos syndrome, musculocontractural type 1
1 gene
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1 of 1 corroborated by 2+ sources
CHST14(6)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Ehlers-danlos syndrome ehlers-danlos syndrome, musculocontractural type 2
1 gene
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1 of 1 corroborated by 2+ sources
DSE(5)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 12 →
Ehlers-danlos syndrome Ehlers-Danlos syndrome, spondylocheirodysplastic type
1 gene
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1 of 1 corroborated by 2+ sources
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Ehlers-danlos syndrome ehlers-danlos syndrome, spondylodysplastic type, 1
1 gene
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1 of 1 corroborated by 2+ sources
B4GALT7(6)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss Usher syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Macular dystrophy retinitis pigmentosa 65
1 gene
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1 of 1 corroborated by 2+ sources
CDHR1(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 7 →
Macular dystrophy RP2-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP2(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. —
Combined immunodeficiency disease severe combined immunodeficiency due to CARMIL2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CARMIL2(2)
0.022 1.000 2.86e-3 3.81e-3 ✓ sig. Cluster 10 →
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 →

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