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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
Central core disease RYR1-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 326 →
Central hypothyroidism Neurooculorenal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ROBO1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Central retinal vein occlusion hereditary thrombophilia due to congenital protein C deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PROC(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 314 →
Cerebellar ataxia with deafness and narcolepsy Cerebellar ataxia, deafness, and narcolepsy
1 gene
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1 of 1 corroborated by 2+ sources
DNMT1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cerebellar ataxia with hearing loss lichtenstein-knorr syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Cimdag syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VPS4A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cerebelloparenchymal disorder Lactic acidosis
1 gene
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1 of 1 corroborated by 2+ sources
PMPCA(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 133 →
cerebral amyloid angiopathy, app-related Partial epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 116 →
cerebral amyloid angiopathy, app-related Eye manifestations
1 gene
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1 of 1 corroborated by 2+ sources
APP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 116 →
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 inherited thrombocytopenia
1 gene
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NOTCH3(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cerebral embolism Intracranial embolism
1 gene
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KL(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 407 →
Cerebrotendinous xanthomatosis Cholestanol storage disease
1 gene
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1 of 1 corroborated by 2+ sources
CYP27A1(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cervical lymphadenopathy Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 77 →
Charcot-Marie-Tooth disease axonal type 2N Leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2N developmental and epileptic encephalopathy, 29
1 gene
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AARS1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Charcot-Marie-Tooth disease type 1A Hereditary neuropathy with liability to pressure palsies
1 gene
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1 of 1 corroborated by 2+ sources
PMP22(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Charcot-Marie-Tooth disease type 2A2 multiple symmetric lipomatosis with partial lipodystrophy
1 gene
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MFN2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 207 →
Charcot-Marie-Tooth disease type 2T Congenital membranous nephropathy
1 gene
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1 of 1 corroborated by 2+ sources
MME(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Childhood myocerebrohepatopathy spectrum Schilder disease
1 gene
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1 of 1 corroborated by 2+ sources
POLG(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 97 →
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia myopathy, proximal, and ophthalmoplegia
1 gene
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1 of 1 corroborated by 2+ sources
MYH2(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Childhood-onset benign chorea with striatal involvement Dyskinesia, limb and orofacial, infantile-onset
1 gene
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1 of 1 corroborated by 2+ sources
PDE10A(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Childhood-onset common variable immunodeficiency due to arhgef1 deficiency immunodeficiency 62
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Childhood-onset dystonia Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
MECR(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Cholestasis-pigmentary retinopathy-cleft palate syndrome MED12-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED12(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 200 →
Cholesterol ester storage disease Wolman disease
1 gene
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1 of 1 corroborated by 2+ sources
LIPA(6)
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.