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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
Microphthalmos Trichiasis
1 gene
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MCM7(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction Trichomegaly
1 gene
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1 of 1 corroborated by 2+ sources
FGF5(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
syndromic intellectual disability Verheij syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 224 →
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay X-linked intellectual disability-cerebellar hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OPHN1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Xia-gibbs syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
syndromic intellectual disability Zunich neuroectodermal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGL(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Focal dermal hypoplasia Microphthalmos
1 gene
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1 of 1 corroborated by 2+ sources
PORCN(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 56 →
Congenital right-sided heart lesions Ventricular fibrillation
1 gene
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SLC27A6(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 4 →
Coq7-related distal hereditary motor neuropathy Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
COQ7(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Coronary vessel anomalies Microphthalmos
1 gene
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1 of 1 corroborated by 2+ sources
GCLC(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Corpus callosum agenesis with facial anomalies and robin sequence
1 gene
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DDX3X(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
craniosynostosis 4 Ocular hypotension
1 gene
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1 of 1 corroborated by 2+ sources
ERF(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Complete unilateral cleft lip Deafness with labyrinthine aplasia, microtia, and microdontia
1 gene
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1 of 1 corroborated by 2+ sources
FGF3(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Bosley-salih-alorainy syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
HOXA1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
BPTF(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
C syndrome Proliferative diabetic retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CD96(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 399 →
Cardiac and skeletal myopathy Ventricular fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
ACTN2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 4 →
cardiomyopathy, dilated, 2e Ventricular fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
JPH2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 4 →
8q24.3 microdeletion syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 224 →
Acid sphingomyelinase deficiency Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
acute myeloid leukemia Emphysema
1 gene
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1 of 1 corroborated by 2+ sources
CEBPA(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Antecubital pterygium syndrome Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
PSD3(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 287 →
Anterior maxillary protrusion-strabismus-intellectual disability syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
SOBP(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Aplasia of lacrimal and salivary glands Complete unilateral cleft lip
1 gene
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1 of 1 corroborated by 2+ sources
FGF10(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —

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