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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
greenberg dysplasia Reynolds syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LBR(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 280 →
greenberg dysplasia Rhizomelic skeletal dysplasia with or without pelger-huet anomaly
1 gene
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1 of 1 corroborated by 2+ sources
LBR(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 280 →
greenberg dysplasia regressive spondylometaphyseal dysplasia
1 gene
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LBR(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 280 →
greig cephalopolysyndactyly syndrome Tibial hemimelia
1 gene
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1 of 1 corroborated by 2+ sources
GLI3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 142 →
Growth retardation, developmental delay, and facial dysmorphism Growth retardation, developmental delay, coarse facies, and early death
1 gene
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1 of 1 corroborated by 2+ sources
FTO(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
MYH7-related skeletal myopathy Myosin storage myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 89 →
myopathy, myofibrillar, 9, with early respiratory failure Progressive contractures limb-girdle weakness muscle dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
myopathy, myofibrillar, 9, with early respiratory failure tibial muscular dystrophy
1 gene
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TTN(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
myopathy, myofibrillar, 9, with early respiratory failure TTN-related myopathy, dominant-negative TTNsv
1 gene
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TTN(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Myotonia Potassium-aggravated myotonia
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 163 →
Myotonia SCN4A-related myopathy, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 163 →
Natural killer cell deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
1 gene
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1 of 1 corroborated by 2+ sources
MCM4(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Nebulin-related myopathy nemaline myopathy 2
1 gene
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1 of 1 corroborated by 2+ sources
NEB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 51 →
Neonatal anemia Perinatal hemolytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 400 →
neonatal encephalopathy with non-epileptic myoclonus neonatal-onset developmental and epileptic encephalopathy
1 gene
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KCNQ2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 165 →
Neonatal hyperbilirubinemia Serum bilirubin level
1 gene
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1 of 1 corroborated by 2+ sources
UGT1A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neonatal-onset encephalopathy with rigidity and seizures Rigidity and multifocal seizure syndrome, lethal neonatal
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neonatal-onset encephalopathy with rigidity and seizures neurodevelopmental disorder with cerebellar atrophy and with or without seizures
1 gene
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BRAT1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Nephropathy with pretibial epidermolysis bullosa and deafness Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD151(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Nephropathy with pretibial epidermolysis bullosa and deafness Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD151(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD151(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Neurodegeneration peripheral neuropathy syndrome neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
1 gene
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CAPRIN1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neurodegenerative disease Regressive neurodevelopmental disorder dystonia seizures
1 gene
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1 of 1 corroborated by 2+ sources
IRF2BPL(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neurodevelopmental disorder with cerebellar atrophy and with or without seizures Rigidity and multifocal seizure syndrome, lethal neonatal
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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