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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
Beckwith-wiedemann syndrome Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDKN1C(8)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 199 →
Congenital skin anomaly IRF6-related condition
1 gene
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1 of 1 corroborated by 2+ sources
IRF6(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
IRF6-related condition Skin abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
IRF6(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
IRIDA syndrome Iron deficiency anemia
1 gene
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1 of 1 corroborated by 2+ sources
TMPRSS6(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Craniodiaphyseal dysplasia Juvenile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
CILK1(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Esotropia kbg syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD11(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Hypertensive heart disease Lafora body disease
1 gene
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1 of 1 corroborated by 2+ sources
PRDM8(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Laryngeal carcinoma Wagner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VCAN(5)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Laryngeal carcinoma microcephalic primordial dwarfism due to RTTN deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Epiphyseal dysplasia Laryngeal hypoplasia
1 gene
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FOXP4(1)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 248 →
Uranostaphyloschisis Uterine polyp
2 genes
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2 of 2 corroborated by 2+ sources
NFIA(2), SMARCA4(2)
0.043 0.083 6.29e-4 1.24e-3 ✓ sig. —
Brain infarction Hemophilia a
2 genes
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1 of 2 corroborated by 2+ sources
HLA-DQA1(1), PLAT(2)
0.039 0.125 6.25e-4 1.24e-3 ✓ sig. —
Intracranial aneurysm Vesicoureteral reflux
2 genes
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2 of 2 corroborated by 2+ sources
ENG(2), SOX17(6)
0.038 0.133 6.10e-4 1.21e-3 ✓ sig. —
Bladder exstrophy Bladder exstrophy and epispadias complex
2 genes
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2 of 2 corroborated by 2+ sources
TP63(2), ISL1(3)
0.043 0.095 6.09e-4 1.20e-3 ✓ sig. Cluster 27 →
Conduct disorder Sarcopenia
2 genes
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PTPRD(1), DMAC1(1)
0.032 0.182 6.03e-4 1.19e-3 ✓ sig. —
Corneal astigmatism Emphysema
3 genes
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PPARGC1A(1), DHX15(1), PARD3(1)
0.029 0.083 6.01e-4 1.19e-3 ✓ sig. —
Hoarding disorder Mastocytosis
2 genes
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CEBPA(1), SLC7A10(1)
0.043 0.100 5.94e-4 1.17e-3 ✓ sig. —
Ovarian cysts Primary angle closure glaucoma
2 genes
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2 of 2 corroborated by 2+ sources
COL11A1(2), SFRP4(2)
0.040 0.125 5.90e-4 1.17e-3 ✓ sig. —
Biliary atresia Uremia
2 genes
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2 of 2 corroborated by 2+ sources
SPP1(2), ICAM1(2)
0.042 0.111 5.88e-4 1.16e-3 ✓ sig. —
Bilateral perisylvian polymicrogyria Combined immunodeficiency, enteropathy spectrum
1 gene
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1 of 1 corroborated by 2+ sources
PI4KA(2)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. Cluster 267 →
Bilateral perisylvian polymicrogyria Gastrointestinal defects and immunodeficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PI4KA(4)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. Cluster 267 →
Bile duct cancer Chromosome 22q11.2 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAPK1(3)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. —
Carnitine palmitoyltransferase deficiency Fatty acid metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
CPT1A(7)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. Cluster 99 →
Combined deficiency of vitamin k-dependent clotting factors Coumarin resistance
1 gene
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1 of 1 corroborated by 2+ sources
VKORC1(5)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. —
Cerebellar ataxia, impaired intellectual development, and dysequilibrium Congenital communicating hydrocephalus
1 gene
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1 of 1 corroborated by 2+ sources
WDR81(3)
0.167 0.333 5.84e-4 1.16e-3 ✓ sig. —

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