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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
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
CCND2(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
WDR62(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Anophthalmia/microphthalmia-esophageal atresia syndrome Focal dermal hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PORCN(7)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 56 →
GPR179-related retinopathy Night blindness, congenital stationary
1 gene
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1 of 1 corroborated by 2+ sources
GPR179(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 151 →
GRM6-related retinopathy Night blindness, congenital stationary
1 gene
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1 of 1 corroborated by 2+ sources
GRM6(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 151 →
Anophthalmia/microphthalmia-esophageal atresia syndrome Growth hormone deficiency with pituitary anomalies
1 gene
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1 of 1 corroborated by 2+ sources
HESX1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Cerebellar ataxia with hearing loss Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Chagas cardiomyopathy Cousin syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX15(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Chagas cardiomyopathy Pelviscapular dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TBX15(5)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Chagas cardiomyopathy Neonatal anemia
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 400 →
Chagas cardiomyopathy Perinatal hemolytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 400 →
Amblyopia Christianson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A6(5)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 281 →
Chromosome 5q12 deletion syndrome Gallbladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
PDE4D(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Ck syndrome Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(7)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Amblyopia CNGB1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CNGB1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 281 →
20p12.3 microdeletion syndrome Amblyopia
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
amyotrophic lateral sclerosis type 11 Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
amyotrophic lateral sclerosis type 19 Gallbladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
ERBB4(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
amyotrophic lateral sclerosis type 22 Oocyte maturation defect
1 gene
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1 of 1 corroborated by 2+ sources
TUBA4A(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Anomalous pulmonary venous Polymicrogyria
1 gene
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PSMC3(1)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Deafness with cataract, intellectual disability, and polyneuropathy Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
PSMC3(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Anophthalmia/microphthalmia-esophageal atresia syndrome nance-horan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NHS(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Amblyopia Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A6(3)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 281 →
Night blindness, congenital stationary NYX-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
NYX(4)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 151 →
oligodontia-cancer predisposition syndrome Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
AXIN2(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —

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