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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
Cloves syndrome Congenital intestinal duplication
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Congenital macrodactylia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Congenital malformation syndromes involving early overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Cloves syndrome Hemifacial myohyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 44 →
Coasy protein-associated neurodegeneration Coenzyme a synthase protein associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
COASY(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Coats disease norrie disease
1 gene
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1 of 1 corroborated by 2+ sources
NDP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cobalamin metabolism disorder inborn disorder of cobalamin metabolism and transport
1 gene
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1 of 1 corroborated by 2+ sources
MMADHC(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cocoon syndrome Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CHUK(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
COG4-congenital disorder of glycosylation Saul-wilson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COG4(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
COG4-congenital disorder of glycosylation microcephalic osteodysplastic dysplasia, Saul-Wilson type
1 gene
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COG4(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Panniculitis Thiamine deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 245 →
Parastremmatic dwarfism Scapuloperoneal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Parastremmatic dwarfism TRPV4-related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Parathyroid carcinoma Parathyroid neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
CDC73(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Paris-trousseau thrombocytopenia Peripheral primitive neuroectodermal tumor
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 309 →
Parkinsonism with cognitive impairment Waisman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB39B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Parkinsonism with spasticity, x-linked X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Partial corpus callosum agenesis, x-linked X-linked complicated corpus callosum dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Partial corpus callosum agenesis, x-linked X-linked complicated spastic paraplegia
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Partial corpus callosum agenesis, x-linked X-linked hydrocephalus with stenosis of the aqueduct of sylvius
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Patent ductus venosus Urinary bladder calculi
1 gene
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1 of 1 corroborated by 2+ sources
AHR(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 191 →
Patent ductus venosus Ureteral neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
AHR(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 191 →
Peripheral neuropathy myopathy hoarseness hearing loss syndrome Peripheral neuropathy, myopathy, hoarseness, and hearing
1 gene
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1 of 1 corroborated by 2+ sources
MYH14(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Periventricular heterotopia with microcephaly, autosomal recessive Periventricular laminar heterotopia
1 gene
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1 of 1 corroborated by 2+ sources
ARFGEF2(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Phenylketonuria Tetrahydrobiopterin-responsive phenylketonuria
1 gene
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1 of 1 corroborated by 2+ sources
PAH(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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