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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
Clouston syndrome Deafness, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
GJB6(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 210 →
Cocoon syndrome Congenital skin anomaly
1 gene
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1 of 1 corroborated by 2+ sources
CHUK(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Cocoon syndrome Skin abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
CHUK(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Cornelia de lange syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AFF4(4)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
immunodeficiency 121 with autoinflammation Omenn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSMB10(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Berylliosis immunodeficiency 123 with hpv-related verrucosis
1 gene
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1 of 1 corroborated by 2+ sources
CD28(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Berylliosis immunodeficiency due to CD25 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
immunodeficiency, developmental delay, and hypohomocysteinemia Keratosis
1 gene
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1 of 1 corroborated by 2+ sources
NFE2L2(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
immunodeficiency, developmental delay, and hypohomocysteinemia Vascular system injury
1 gene
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1 of 1 corroborated by 2+ sources
NFE2L2(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Common migraine inherited thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH3(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Brachycephaly Intellectual developmental disorder microcephaly strabismus behaviora
1 gene
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1 of 1 corroborated by 2+ sources
POGZ(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Berylliosis Interleukin 2 receptor deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Intermittent porphyria Porphyria
1 gene
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1 of 1 corroborated by 2+ sources
HMBS(5)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 125 →
Endometrial hyperplasia Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDKN1C(4)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
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 →
developmental and epileptic encephalopathy, 50 Spherocytosis
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 168 →

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