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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
Open angle glaucoma Rothmund-Thomson syndrome type 1
1 gene
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1 of 1 corroborated by 2+ sources
ANAPC1(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay schuurs-hoeijmakers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PACS1(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay seckel syndrome 10
1 gene
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1 of 1 corroborated by 2+ sources
NSMCE2(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Sensorineural hearing loss-spastic quadriplegia–intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
AFG2B(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCAP31(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Shukla-vernon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BCORL1(4)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay SMARCC1-associated developmental dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMARCC1(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay neurodegeneration, childhood-onset, with cerebellar atrophy
1 gene
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1 of 1 corroborated by 2+ sources
AGTPBP1(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay neurodegenerative disease
1 gene
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1 of 1 corroborated by 2+ sources
IRF2BPL(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay neurodevelopmental disorder with hypotonia, neuropathy, and deafness
1 gene
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1 of 1 corroborated by 2+ sources
SPTBN4(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
1 gene
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1 of 1 corroborated by 2+ sources
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Global developmental delay neurodevelopmental disorder with severe motor impairment and absent language
1 gene
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1 of 1 corroborated by 2+ sources
DHX30(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Open angle glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TNR(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 240 →
Global developmental delay optic atrophy 10 with or without ataxia, intellectual disability, and seizures
1 gene
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1 of 1 corroborated by 2+ sources
RTN4IP1(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Otofacial neurodevelopmental syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZSCAN10(4)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Global developmental delay immunodeficiency 78 with autoimmunity and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
TPP2(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Inflammatory demyelinating polyneuropathy Open angle glaucoma
1 gene
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CNBD1(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Intellectual developmental disorder dysmorphic hypotonia
1 gene
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1 of 1 corroborated by 2+ sources
KMT5B(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Intellectual developmental disorder dysmorphic ocular
1 gene
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1 of 1 corroborated by 2+ sources
MTSS2(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Global developmental delay Intellectual developmental disorder growth behavioral
1 gene
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PPP2R5D(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Intellectual developmental disorder macrocephaly hypotonia behavioral
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R5D(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Intellectual developmental disorder speech ambulation
1 gene
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1 of 1 corroborated by 2+ sources
ACTL6B(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Kidney atrophy
1 gene
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0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Combined malonic and methylmalonic acidemia Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(5)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Combined malonic and methylmalonic aciduria Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —

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