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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
Atrioventricular septal defect Intellectual developmental disorder language autism
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Congenital nonspherocytic hemolytic anemia Intellectual developmental disorder microcephaly cerebellar
1 gene
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1 of 1 corroborated by 2+ sources
CASK(4)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Intestinal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 104 →
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Intestinal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 104 →
Brain tumor-polyposis syndrome Intestinal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
APC(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
hemochromatosis type 1 Intestinal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
HFE(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Intestinal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
isolated microphthalmia 6 Nanophthalmos
1 gene
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1 of 1 corroborated by 2+ sources
PRSS56(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 56 →
Ductal carcinoma of breast juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMAD4(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Hydronephrosis Kidney atrophy
1 gene
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0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 24 →
arrhythmogenic right ventricular dysplasia 5 Xeroderma pigmentosum
1 gene
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1 of 1 corroborated by 2+ sources
TMEM43(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
asphyxiating thoracic dystrophy 2 Majewski syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IFT80(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
asphyxiating thoracic dystrophy 3 Majewski syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DYNC2H1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Ataxia with oculomotor apraxia and hypoalbuminemia Coenzyme q10 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
APTX(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Angina pectoris Autoimmune uveitis
1 gene
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1 of 1 corroborated by 2+ sources
CXCL8(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 76 →
Autoimmune uveitis Cachexia
1 gene
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1 of 1 corroborated by 2+ sources
CXCL8(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 76 →
Autoinflammation with arthritis and vasculitis Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
TBK1(7)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
autosomal dominant macrothrombocytopenia Frontotemporal dementia with or without amyotrophic lateral sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
TUBA4A(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
autosomal recessive cutis laxa type 2A Rothmund-thomson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
autosomal recessive cutis laxa type 2B Rothmund-thomson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PYCR1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 80 →
autosomal recessive cutis laxa type 2C Rothmund-thomson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 80 →
autosomal recessive cutis laxa type 2D Rothmund-thomson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6V1A(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 80 →
Avellino corneal dystrophy Hereditary corneal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TGFBI(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Beemer-langer syndrome Majewski syndrome
1 gene
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IFT80(1)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Autoimmune musculoskeletal system disorder Benign familial pemphigus
1 gene
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1 of 1 corroborated by 2+ sources
ATP2C1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —

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