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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
Hodgkin lymphoma Neuroocular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PRR12(5)
0.009 0.500 1.44e-2 1.60e-2 ✓ sig. —
Keratoconus Pancreatic trypsinogen deficiency
1 gene
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TRB(1)
0.009 0.500 1.44e-2 1.60e-2 ✓ sig. —
Deafness-infertility syndrome Male infertility
1 gene
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1 of 1 corroborated by 2+ sources
0.009 0.500 1.44e-2 1.60e-2 ✓ sig. —
X-linked intellectual disability X-linked syndromic complex neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
AP1S2(3)
0.013 0.333 1.43e-2 1.59e-2 ✓ sig. Cluster 115 →
Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 41
1 gene
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1 of 1 corroborated by 2+ sources
SLC1A2(7)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 55
1 gene
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1 of 1 corroborated by 2+ sources
PIGP(6)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. Cluster 6 →
Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 77
1 gene
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1 of 1 corroborated by 2+ sources
PIGQ(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. Cluster 6 →
Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 80
1 gene
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1 of 1 corroborated by 2+ sources
PIGB(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy Developmental delay and seizures
1 gene
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1 of 1 corroborated by 2+ sources
DHDDS(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy DHDDS-CDG
1 gene
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1 of 1 corroborated by 2+ sources
DHDDS(4)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Cerebellar-facial-dental syndrome Developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
BRF1(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Cervical dystonia Developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
CIZ1(2)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy Hyperekplexia epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF9(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
1q44 microdeletion syndrome Developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
HNRNPU(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. Cluster 6 →
Developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNH5(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy intellectual developmental disorder 59
1 gene
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1 of 1 corroborated by 2+ sources
CAMK2G(3)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy Intellectual developmental disorder speech ambulation
1 gene
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1 of 1 corroborated by 2+ sources
ACTL6B(5)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome Developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
MEF2C(2)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy focal segmental glomerulosclerosis and neurodevelopmental syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRIM8(3)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy frontotemporal dementia and/or amyotrophic lateral sclerosis 5
1 gene
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1 of 1 corroborated by 2+ sources
CCNF(2)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy Genetic generalized epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TNK2(2)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
Developmental and epileptic encephalopathy glycosylphosphatidylinositol biosynthesis defect 18
1 gene
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1 of 1 corroborated by 2+ sources
PIGS(3)
0.005 1.000 1.43e-2 1.59e-2 ✓ sig. —
GM3 synthase deficiency Psychiatric disorders
1 gene
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1 of 1 corroborated by 2+ sources
ST3GAL5(2)
0.005 1.000 1.42e-2 1.58e-2 ✓ sig. —
MEGF10-related myopathy Psychiatric disorders
1 gene
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1 of 1 corroborated by 2+ sources
MEGF10(2)
0.005 1.000 1.42e-2 1.58e-2 ✓ sig. —
Psychiatric disorders Salt and pepper developmental regression syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ST3GAL5(2)
0.005 1.000 1.42e-2 1.58e-2 ✓ sig. —

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