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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
POLR3A-related disorder Tremor-ataxia-central hypomyelination syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
POLR3B-related disorder Tremor-ataxia-central hypomyelination syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3B(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
polycystic liver disease 4 with or without kidney cysts Retinopathy background
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Posterior column ataxia with retinitis pigmentosa Retinopathy-sensory neuropathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLVCR1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Posttraumatic porencephalic cyst of brain
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Preaxial polydactyly with upper back hypertrichosis Triphalangeal thumb-polysyndactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SHH(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 232 →
Primary cutaneous anaplastic large cell lymphoma Tyrosine kinase 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
TYK2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Prostatic disease Water intoxication
1 gene
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1 of 1 corroborated by 2+ sources
OXT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
PRPH2-related retinopathy Retinitis pigmentosa, digenic
1 gene
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1 of 1 corroborated by 2+ sources
PRPH2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 45 →
Ataxia with deafness and vision loss PRPS1 deficiency disorder
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 257 →
Pyoderma gangrenosum Sweet syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PTPN6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Pyruvate kinase deficiency pyruvate kinase deficiency of red cells
1 gene
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1 of 1 corroborated by 2+ sources
PKLR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
recombinase activating gene 2 deficiency Salla disease
1 gene
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1 of 1 corroborated by 2+ sources
RAG2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 173 →
Recurrent multifocal osteomyelitis Sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
IL1RN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 216 →
red color blindness X-linked cone dysfunction syndrome with myopia
1 gene
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1 of 1 corroborated by 2+ sources
OPN1LW(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
red-green color blindness X-linked cone dysfunction syndrome with myopia
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Reducing body myopathy Scapuloperoneal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Reducing body myopathy X-linked emery-dreifuss muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 415 →
Reducing body myopathy X-linked myopathy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 415 →
Bilateral parasagittal parieto-occipital polymicrogyria Yunis-varon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 103 →
Bilateral vestibulopathy Cerebellar ataxia, neuropathy, and vestibular areflexia
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 190 →
Birk-barel syndrome cataract 50 with or without glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TRPM3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 109 →
Biventricular noncompaction cardiomyopathy Ebstein anomaly
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
Biventricular noncompaction cardiomyopathy Parieto-occipital craniosynostosis
1 gene
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MYH7(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 89 →
Bladder neck obstruction Carcinoma in situ
1 gene
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1 of 1 corroborated by 2+ sources
PTGS2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 375 →

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