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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
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency Gastro-entero-pancreatic neuroendocrine tumor
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Congenital factor xi deficiency Cor pulmonale
1 gene
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1 of 1 corroborated by 2+ sources
F11(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Congenital hyperammonemia Macular telangiectasia
1 gene
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1 of 1 corroborated by 2+ sources
CPS1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Cor pulmonale Factor xi deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F11(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
familial ovarian cancer Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRIP1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
fanconi anemia complementation group j Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRIP1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
fanconi anemia complementation group n Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PALB2(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
fanconi anemia complementation group o Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAD51C(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
fanconi anemia, complementation group s Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRCA1(5)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Colobomatous microphthalmia Focal dermal hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PORCN(7)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 56 →
Gastro-entero-pancreatic neuroendocrine tumor Panniculitis
1 gene
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1 of 1 corroborated by 2+ sources
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 245 →
Gastro-entero-pancreatic neuroendocrine tumor Thiamine deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 245 →
Goldmann-favre syndrome inherited retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
ARHGAP29-related non-syndromic orofacial cleft Cleft lip and palate
1 gene
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1 of 1 corroborated by 2+ sources
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Autoinflammation, antibody deficiency, and immune dysregulation Cor pulmonale
1 gene
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1 of 1 corroborated by 2+ sources
PLCG2(6)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Barakat syndrome Gastro-entero-pancreatic neuroendocrine tumor
1 gene
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1 of 1 corroborated by 2+ sources
GATA3(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
BARD1-related cancer predisposition Hereditary breast and ovarian cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BARD1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 132 →
Beriberi Gastro-entero-pancreatic neuroendocrine tumor
1 gene
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1 of 1 corroborated by 2+ sources
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 245 →
immunodeficiency 122 Uterine prolapse
1 gene
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1 of 1 corroborated by 2+ sources
POLD3(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Gastro-entero-pancreatic neuroendocrine tumor immunodeficiency 63 with lymphoproliferation and autoimmunity
1 gene
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1 of 1 corroborated by 2+ sources
IL2RB(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 245 →
Gastro-entero-pancreatic neuroendocrine tumor immunodeficiency 84
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
immunodeficiency 92 Tremor
1 gene
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1 of 1 corroborated by 2+ sources
REL(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 13 →
Interstitial systitis Tremor
1 gene
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1 of 1 corroborated by 2+ sources
ADRB2(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Amenorrhea Isolated follicle-stimulating hormone deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FSHB(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 346 →
kufor-rakeb syndrome Secondary parkinson disease
1 gene
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1 of 1 corroborated by 2+ sources
ATP13A2(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —

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