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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
Terminal osseous dysplasia with pigmentary defects X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Terminal osseous dysplasia with pigmentary defects X-linked keloid scarring syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Bilateral microtia with deafness and cleft palate syndrome Microtia
1 gene
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1 of 1 corroborated by 2+ sources
HOXA2(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Bilateral multicystic dysplastic kidney Renal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 23 →
Bilateral multicystic dysplastic kidney Giant cell tumor of tendon sheath
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 23 →
Bilateral multicystic dysplastic kidney Multicystic dysplastic kidney
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 23 →
Bilateral vestibulopathy Cerebellar ataxia with neuropathy and bilateral vestibular areflexia
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 190 →
Biotin-thiamine-responsive basal ganglia disease Thiamine-responsive encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Birk-landau-perez syndrome psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC30A9(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Biventricular noncompaction cardiomyopathy Myosin storage myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 89 →
Biventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 89 →
Biventricular noncompaction cardiomyopathy dilated cardiomyopathy 1S
1 gene
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1 of 1 corroborated by 2+ sources
MYH7(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 89 →
Bladder dysfunction Urinary bladder dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
CHRNA3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Blau syndrome Granulomatous inflammatory arthritis-dermatitis-uveitis, familial
1 gene
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1 of 1 corroborated by 2+ sources
NOD2(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 382 →
Blau syndrome Yao syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NOD2(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 382 →
bleeding disorder, platelet-type, 21 Paris-trousseau thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 309 →
bleeding disorder, platelet-type, 21 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 →
Bleeding esophageal varices Esophageal and gastric varices
1 gene
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1 of 1 corroborated by 2+ sources
SST(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 270 →
Blepharophimosis intellectual disability syndrome Oculocerebrofacial syndrome
1 gene
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1 of 1 corroborated by 2+ sources
UBE3B(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Blomstrand lethal chondrodysplasia Eiken skeletal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Blood protein disorder Congenital analbuminemia
1 gene
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1 of 1 corroborated by 2+ sources
ALB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 372 →
Blood protein disorder Dysalbuminemic hyperthyroxinemia
1 gene
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ALB(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 372 →
Bockenheimer syndrome Mucocutaneous venous malformations
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 261 →
Bockenheimer syndrome TEK-related primary glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 261 →
Bohring-opitz-like syndrome Perching syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KLHL7(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 331 →

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