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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
Cerebellar ataxia, impaired intellectual development, and dysequilibrium Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
1 gene
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1 of 1 corroborated by 2+ sources
ATP8A2(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 317 →
Cerebellar ataxia, mental retardation, and dysequilibrium Congenital communicating hydrocephalus
1 gene
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1 of 1 corroborated by 2+ sources
WDR81(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebellar ataxia, mental retardation, and dysequilibrium Microlissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
WDR81(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Myofibromatosis
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH3(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebral folate deficiency Dias-logan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CIC(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebrofacioarticular syndrome Hennekam syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAT4(5)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Chilblain lupus Deoxyguanosine kinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SAMHD1(4)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 150 →
Cholesterol ester transfer protein deficiency Follicular cyst
1 gene
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1 of 1 corroborated by 2+ sources
SCARB1(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Chromosome 17 deletion Chromosome 17q21.31 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Atrial standstill Chromosome 1q21.1 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJA5(4)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cleft face White sutton syndrome
1 gene
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GLI2(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Clonal cytopenia of undetermined significance Transient myeloproliferative disorder
1 gene
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RUNX1(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cochlear diseases Navajo neurohepatopathy
1 gene
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1 of 1 corroborated by 2+ sources
MPV17(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Activated pi3k-delta syndrome Lipomatosis
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Lipomatosis Retinal vasculopathy with cerebral leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
lissencephaly spectrum disorders Lissencephaly, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
DCX(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Arachnoid cysts Lissencephaly, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ARX(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 259 →
Acrocallosal syndrome Male infertility testicular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
KIF7(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 142 →
Juvenile hyperuricemic nephropathy Malignant hypertension
1 gene
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1 of 1 corroborated by 2+ sources
REN(5)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 95 →
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Malignant peripheral nerve sheath tumor
1 gene
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1 of 1 corroborated by 2+ sources
HTRA1(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Malignant triton tumor
1 gene
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1 of 1 corroborated by 2+ sources
HTRA1(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Microscopic colitis Selective immunoglobulin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CLEC16A(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 360 →
Bilateral perisylvian polymicrogyria Combined immunodeficiency-multiple intestinal atresia
1 gene
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PI4KA(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 267 →
Biliary tract neoplasms Congenital aural atresia
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 85 →
Biliary tract neoplasms Crouzon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 85 →

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