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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
LRP5-related exudative vitreoretinopathy Vitamin d deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 98 →
Collagenopathy Vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 11 →
Coxa plana Vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 11 →
Czech dysplasia Vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 11 →
Dysspondyloenchondromatosis Vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 11 →
kniest dysplasia Vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 11 →
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Weyers acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Weyers acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Schimmelpenning-feuerstein-mims syndrome Woolly hair nevus
1 gene
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1 of 1 corroborated by 2+ sources
HRAS(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 18 →
Seminoma Woolly hair nevus
1 gene
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1 of 1 corroborated by 2+ sources
HRAS(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 18 →
Hemoglobin barts fetalis syndrome X-linked alpha-thalassemia-intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATRX(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Hemoglobin h disease X-linked alpha-thalassemia-intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATRX(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
X-linked combined immunodeficiency diseases X-linked severe combined immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RG(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Cerebral creatine deficiency syndrome X-linked creatine transporter deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A8(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 358 →
Partial corpus callosum agenesis, x-linked X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
Masa syndrome X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
X-linked complicated corpus callosum dysgenesis X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
X-linked complicated spastic paraplegia X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
X-linked hydrocephalus syndrome X-linked hydrocephalus with stenosis of the aqueduct of sylvius
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
Deafness, nonsyndromic sensorineural, mitochondrial Xq21 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 251 →
Hearing loss with stapes fixation Xq21 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Burkitt lymphoma Coffin-siris syndrome
2 genes
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2 of 2 corroborated by 2+ sources
ARID1A(5), SMARCA4(5)
0.057 0.118 1.94e-4 5.35e-4 ✓ sig. —
Emphysema Hepatic insufficiency
2 genes
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NFE2L2(1), NOS2(1)
0.045 0.222 1.89e-4 5.35e-4 ✓ sig. —
Corneal ulcer Proliferative diabetic retinopathy
2 genes
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1 of 2 corroborated by 2+ sources
SERPINF1(2), UTRN(1)
0.045 0.222 1.89e-4 5.35e-4 ✓ sig. Cluster 399 →
Retinal detachment Rhegmatogenous retinal detachment
2 genes
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1 of 2 corroborated by 2+ sources
COL2A1(3), FAT3(1)
0.038 0.286 1.82e-4 5.35e-4 ✓ sig. —

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