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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
Congenital hypothyroidism due to absence of thyroid gland Deletion 5q35 syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Deoxyguanosine kinase deficiency Interferonopathy
1 gene
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1 of 1 corroborated by 2+ sources
SAMHD1(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 150 →
Arginine vasopressin resistance Diabetes insipidus
1 gene
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1 of 1 corroborated by 2+ sources
AQP2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Arteritis Capillary leak syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PON1(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Arteritis Congenital thrombotic thrombocytopenic purpura
1 gene
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1 of 1 corroborated by 2+ sources
PROC(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 314 →
Arthralgia Hyper-immunoglobulin d syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MVK(4)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 316 →
Auriculocondylar syndrome Optic nerve disorder
1 gene
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1 of 1 corroborated by 2+ sources
EDN1(7)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 74 →
Autoinflammation with infantile enterocolitis Cryopyrin-associated periodic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NLRC4(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
autosomal recessive primary microcephaly Corpus callosum agenesis
1 gene
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1 of 1 corroborated by 2+ sources
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
autosomal recessive primary microcephaly Urethral syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Basal cell nevus syndrome Bifid nose
1 gene
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1 of 1 corroborated by 2+ sources
GLI2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 212 →
Basal cell nevus syndrome Cleft face
1 gene
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1 of 1 corroborated by 2+ sources
GLI2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 212 →
Becker generalized myotonia Smith-lemli-opitz syndrome
1 gene
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CLCN1(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Benign hypercalcemia Kidney and ureter calculus
1 gene
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CASR(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Beta-mannosidosis Usher syndrome type 2
1 gene
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1 of 1 corroborated by 2+ sources
ADGRV1(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 247 →
Beta-mannosidosis Combined saposin deficiency
1 gene
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CDH23(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Beta-mannosidosis Pituitary adenoma
1 gene
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1 of 1 corroborated by 2+ sources
CDH23(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Bifunctional enzyme deficiency De toni-debre-fanconi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EHHADH(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 99 →
Bifunctional enzyme deficiency Fanconi renotubular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EHHADH(6)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 99 →
Bifunctional enzyme deficiency Peroxisomal disorder
1 gene
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1 of 1 corroborated by 2+ sources
HSD17B4(4)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 99 →
Developmental delay with language impairment and movement disorder Dopa-responsive dystonia
1 gene
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1 of 1 corroborated by 2+ sources
NR4A2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Alport syndrome Diffuse mesangial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
COL4A4(6)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 49 →
Alport syndrome, x-linked Diffuse mesangial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
COL4A4(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 49 →
Diffuse palmoplantar keratoderma Keratosis palmoplantaris striata
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Diffuse panbronchiolitis Extrinsic allergic alveolitis
1 gene
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1 of 1 corroborated by 2+ sources
MUC5B(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —

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