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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
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. —
phosphoribosylpyrophosphate synthetase superactivity Prpp synthetase superactivity
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
phosphoribosylpyrophosphate synthetase superactivity X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
phosphoribosylpyrophosphate synthetase superactivity PRPS1 deficiency disorder
1 gene
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PRPS1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
PIK3R1-related immunodeficiency and SHORT syndrome Short syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3R1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
platelet-type bleeding disorder 12 Sleep deprivation
1 gene
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1 of 1 corroborated by 2+ sources
PTGS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
platelet-type bleeding disorder 17 Thrombasthenia-thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
GFI1B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
platelet-type bleeding disorder 20 Thrombocytopenia with platelet secretion defect
1 gene
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1 of 1 corroborated by 2+ sources
SLFN14(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Collagenopathy platyspondylic dysplasia, Torrance type
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Coxa plana platyspondylic dysplasia, Torrance type
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Czech dysplasia platyspondylic dysplasia, Torrance type
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Dysspondyloenchondromatosis platyspondylic dysplasia, Torrance type
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
kniest dysplasia platyspondylic dysplasia, Torrance type
1 gene
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COL2A1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
PNPLA6-related spastic paraplegia with or without ataxia Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
PNPLA6-related spastic paraplegia with or without ataxia retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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PNPLA6(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →

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