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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
Intellectual developmental disorder Retinitis pigmentosa and erythrocytic microcytosis
1 gene
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1 of 1 corroborated by 2+ sources
TRNT1(5)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Richieri costa pereira syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EIF4A3(4)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Rigidity and multifocal seizure syndrome, lethal neonatal
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Robin sequence with cleft mandible and limb anomalies
1 gene
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1 of 1 corroborated by 2+ sources
EIF4A3(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder schuurs-hoeijmakers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PACS1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATAD2B(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Severe neonatal spondylometaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
SBDS(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Sideroblastic anemia with b-cell immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
TRNT1(5)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder spinocerebellar ataxia type 42
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1G(4)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder spinocerebellar ataxia type 5
1 gene
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1 of 1 corroborated by 2+ sources
SPTBN2(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder stankiewicz-isidor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSMD12(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder syndromic X-linked intellectual disability Raymond type
1 gene
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1 of 1 corroborated by 2+ sources
ZDHHC9(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder syndromic X-linked intellectual disability Siderius type
1 gene
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1 of 1 corroborated by 2+ sources
PHF8(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Lethal neonatal rigidity and multifocal seizure syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder megalencephalic leukoencephalopathy with subcortical cysts 2a
1 gene
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1 of 1 corroborated by 2+ sources
HEPACAM(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
HEPACAM(2)
0.001 1.000 5.25e-2 5.42e-2 —
aspartylglucosaminuria Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
AGA(2)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
Autism-epilepsy syndrome Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
BCKDK(2)
0.001 1.000 5.25e-2 5.42e-2 —
autosomal recessive spinocerebellar ataxia 14 Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SPTBN2(2)
0.001 1.000 5.25e-2 5.42e-2 —
autosomal recessive spinocerebellar ataxia 20 Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SNX14(3)
0.001 1.000 5.25e-2 5.42e-2 —
Bafopathy Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
ACTL6A(3)
0.001 1.000 5.25e-2 5.42e-2 —
basilicata-akhtar syndrome Intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
MSL3(2)
0.001 1.000 5.25e-2 5.42e-2 Cluster 6 →
Intellectual developmental disorder Paraparesis
1 gene
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1 of 1 corroborated by 2+ sources
TECPR2(2)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder Partial deletion of short arm of chromosome 3
1 gene
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1 of 1 corroborated by 2+ sources
CHL1(3)
0.001 1.000 5.25e-2 5.42e-2 —
Intellectual developmental disorder progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A17(3)
0.001 1.000 5.25e-2 5.42e-2 —

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