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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
Congenital muscular dystrophy myopathy caused by variation in POMT1
1 gene
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1 of 1 corroborated by 2+ sources
POMT1(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 14 →
Congenital muscular dystrophy myopathy caused by variation in POMT2
1 gene
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1 of 1 corroborated by 2+ sources
POMT2(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 14 →
Centronuclear myopathy myopathy, centronuclear, 5
1 gene
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1 of 1 corroborated by 2+ sources
SPEG(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 189 →
Centronuclear myopathy myopathy, centronuclear, 6, with fiber-type disproportion
1 gene
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1 of 1 corroborated by 2+ sources
MAP3K20(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Centronuclear myopathy nemaline myopathy 7
1 gene
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1 of 1 corroborated by 2+ sources
CFL2(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Erythematosquamous dermatosis netherton syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPINK5(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 162 →
Febrile convulsion neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
1 gene
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1 of 1 corroborated by 2+ sources
UNC13A(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Cerebral arteriovenous malformations neurodevelopmental disorder with microcephaly, ataxia, and seizures
1 gene
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1 of 1 corroborated by 2+ sources
SARS1(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 175 →
Febrile convulsion neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
1 gene
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1 of 1 corroborated by 2+ sources
UNC13A(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Neutropenia, nonimmune chronic idiopathic, adult Severe congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
GFI1(6)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 209 →
Neutrophilic leukemia Severe congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
CSF3R(6)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 209 →
Oculocerebrofacial syndrome Polymyositis
1 gene
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1 of 1 corroborated by 2+ sources
UBE3B(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Centronuclear myopathy OPA1-related optic atrophy with or without extraocular features
1 gene
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1 of 1 corroborated by 2+ sources
OPA1(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Cerebral arteriovenous malformations Osteopoikilosis
1 gene
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LEMD3(1)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 175 →
Centronuclear myopathy immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FOXP3(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Hydranencephaly immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FOXP3(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Erythematosquamous dermatosis Intellectual developmental disorder dysmorphic macrocephaly
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
IRIDA syndrome Iron metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
TMPRSS6(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Hydranencephaly joubert syndrome 14
1 gene
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1 of 1 corroborated by 2+ sources
TMEM237(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 110 →
Hydranencephaly joubert syndrome 36
1 gene
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1 of 1 corroborated by 2+ sources
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 110 →
Congenital muscular dystrophy LAMA2-related muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
leber congenital amaurosis 15 Syndactyly
1 gene
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1 of 1 corroborated by 2+ sources
TULP1(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 352 →
Hemophilia a carriers Venous thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
F8(3)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Hyaluronoglucosaminidase deficiency Mucopolysaccharidosis
1 gene
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1 of 1 corroborated by 2+ sources
HYAL1(5)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
hypoinsulinemic hypoglycemia and body hemihypertrophy Nasopharyngeal carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
AKT2(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —

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