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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
Chromosome 10q deletion syndrome Vesicoureteral reflux
1 gene
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1 of 1 corroborated by 2+ sources
EBF3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 323 →
Chromosome 1q deletion syndrome Developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB18(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Chromosome 1q43-q44 deletion syndrome Developmental delay
1 gene
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ZBTB18(1)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Chromosome 20q11-q12 deletion syndrome Cutaneous squamous cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
EPB41L1(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 29 →
CNGA3-related retinopathy Cone dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGA3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
CNGB3-related retinopathy Cone dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CNGB3(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
15q11q13 microduplication syndrome Developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
UBE3A(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
2-aminoadipic 2-oxoadipic aciduria Dejerine-sottas disease
1 gene
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1 of 1 corroborated by 2+ sources
DHTKD1(6)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
2-aminoadipic 2-oxoadipic aciduria Hypertrophic neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
DHTKD1(6)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
2-aminoadipic 2-oxoadipic aciduria Roussy-levy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DHTKD1(6)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Arboleda-tham syndrome Developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
KAT6A(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Dermatitis immunodeficiency 15a
1 gene
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1 of 1 corroborated by 2+ sources
IKBKB(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cutaneous squamous cell carcinoma immunodeficiency 60
1 gene
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1 of 1 corroborated by 2+ sources
BACH2(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
immunodeficiency 63 with lymphoproliferation and autoimmunity Myasthenia gravis
1 gene
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1 of 1 corroborated by 2+ sources
IL2RB(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Dejerine-sottas disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
1 gene
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1 of 1 corroborated by 2+ sources
VCP(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Hypertrophic neuropathy inclusion body myopathy with Paget disease of bone and frontotemporal dementia
1 gene
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1 of 1 corroborated by 2+ sources
VCP(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Intellectual developmental disorder movement cerebellar Limb girdle muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Developmental delay Intellectual developmental disorder seizures language
1 gene
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1 of 1 corroborated by 2+ sources
SETD1B(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 32 →
Dermatitis Interstitial systitis
1 gene
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ADRB2(1)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Interstitial systitis Myasthenia gravis
1 gene
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ADRB2(1)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
isolated microphthalmia 6 Microphthalmia
1 gene
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1 of 1 corroborated by 2+ sources
PRSS56(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 56 →
Cholangiocarcinoma KCND2-related neurodevelopmental disorder with or without seizures
1 gene
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1 of 1 corroborated by 2+ sources
KCND2(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Kidney atrophy Microphthalmia
1 gene
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0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Kidney atrophy Vesicoureteral reflux
1 gene
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0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
LAMA2-related muscular dystrophy Limb girdle muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —

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