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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 multicore myopathy with external ophthalmoplegia Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Bladder cancer Retinoblastoma
1 gene
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1 of 1 corroborated by 2+ sources
RB1(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Diabetes insipidus Rhabdomyoma
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Rieger syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Colpocephaly Rieger syndrome
1 gene
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COL4A1(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Discordant ventriculoarterial connection Right isomerism
1 gene
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1 of 1 corroborated by 2+ sources
GDF1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 113 →
Rieger syndrome Ring dermoid of cornea
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 253 →
RYR1-related myopathy Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
17q23.1q23.2 microdeletion syndrome Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →
Amelia Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →
Chromosome 17q23.1-q23.2 duplication syndrome Sacral agenesis
1 gene
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TBX4(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →
Coxopodopatellar syndrome Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →
Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 24 →
Diabetes insipidus Sacroiliitis
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Camptocormia Schilder disease
1 gene
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1 of 1 corroborated by 2+ sources
POLG(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Anonychia Sebocystomatosis
1 gene
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1 of 1 corroborated by 2+ sources
KRT17(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 160 →
Benign neonatal epilepsy self-limited familial neonatal epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ3(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 165 →
Sengers syndrome Triokinase and fmn cyclase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
TKFC(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 412 →
Bladder cancer Splenic neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
HRAS(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 18 →
Penile neoplasms Splenic neoplasms
1 gene
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HRAS(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 18 →
Cleft lip and cleft of alveolar process of maxilla Sweat gland neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Arteriovenous hemangioma TEK-related primary glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 261 →
Epilepsy with auditory features Sacroiliac joint synovitis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Epilepsy with myoclonic absence Paroxysmal dystonic choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Erythrocyte udp-galactose-4-epimerase deficiency Galactosemia
1 gene
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1 of 1 corroborated by 2+ sources
GALE(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 340 →

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