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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 congenital muscular dystrophy with intellectual disability and severe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
DPM2(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
congenital myasthenic syndrome 6 Febrile convulsion
1 gene
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1 of 1 corroborated by 2+ sources
CHAT(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Congenital myelofibrosis with anemia Severe congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
RBSN(3)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 209 →
Congenitally uncorrected transposition of the great arteries Heterotaxy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CFC1(5)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Keratitis
1 gene
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1 of 1 corroborated by 2+ sources
NLRP1(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Cranio-cervical dystonia Febrile convulsion
1 gene
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1 of 1 corroborated by 2+ sources
ANO3(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 47 →
Cyclic hematopoiesis Severe congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
ELANE(7)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Cerebral arteriovenous malformations Dermatofibrosis lenticularis disseminata
1 gene
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1 of 1 corroborated by 2+ sources
LEMD3(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 175 →
Iron metabolism disorder TFRC-related combined immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
TFRC(3)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Centronuclear myopathy TOR1AIP1-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Dysarthria Troyer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPART(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 239 →
Erythematosquamous dermatosis Tyrosine kinase 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
TYK2(3)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Severe congenital neutropenia X-linked severe congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
WAS(6)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Severe congenital neutropenia X-linked thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
WAS(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Dysarthria xeroderma pigmentosum group G
1 gene
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1 of 1 corroborated by 2+ sources
ERCC5(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Bile duct neoplasms Cerebral arteriovenous malformations
1 gene
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1 of 1 corroborated by 2+ sources
EGFR(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Blepharophimosis intellectual disability syndrome Polymyositis
1 gene
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1 of 1 corroborated by 2+ sources
UBE3B(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Buschke-ollendorff syndrome Cerebral arteriovenous malformations
1 gene
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1 of 1 corroborated by 2+ sources
LEMD3(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 175 →
Camptosynpolydactyly Syndactyly
1 gene
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1 of 1 corroborated by 2+ sources
BHLHA9(5)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Cataplexy Dysarthria
1 gene
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1 of 1 corroborated by 2+ sources
NPC1(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Patterson stevenson fontaine syndrome Syndactyly
1 gene
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1 of 1 corroborated by 2+ sources
LMBR1(4)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Centronuclear myopathy Periodic paralysis with transient compartment-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1S(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
periventricular nodular heterotopia 7 Syndactyly
1 gene
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1 of 1 corroborated by 2+ sources
NEDD4L(3)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Keratitis peutz-jeghers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STK11(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. —
Gastritis platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
1 gene
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1 of 1 corroborated by 2+ sources
ARPC1B(2)
0.043 1.000 1.43e-3 2.23e-3 ✓ sig. Cluster 1 →

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