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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
Muscle eye brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
1 gene
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1 of 1 corroborated by 2+ sources
B4GAT1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 14 →
Colobomatous microphthalmia colobomatous microphthalmia-rhizomelic dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAB21L2(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 56 →
Colorectal adenomatous polyposis Congenital pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MUTYH(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
combined immunodeficiency due to RELA haploinsufficiency Cystitis
1 gene
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1 of 1 corroborated by 2+ sources
RELA(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
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. —
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. —
Hereditary breast and ovarian cancer syndrome PALB2-related cancer predisposition
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. —
Gastro-entero-pancreatic neuroendocrine tumor pancytopenia due to IKZF1 mutations
1 gene
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1 of 1 corroborated by 2+ sources
IKZF1(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
PLA2G6-associated neurodegeneration Uterine prolapse
1 gene
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1 of 1 corroborated by 2+ sources
PLA2G6(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Portal hypertension renal tubular dysgenesis of genetic origin
1 gene
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1 of 1 corroborated by 2+ sources
REN(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Arginine vasopressin deficiency Portal hypertension
1 gene
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1 of 1 corroborated by 2+ sources
AVP(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Colobomatous microphthalmia progressive retinal dystrophy due to retinol transport defect
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(2)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Hereditary breast and ovarian cancer syndrome RAD51C-related cancer predisposition
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. —
Hereditary breast and ovarian cancer syndrome RAD51D-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
RAD51D(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 132 →
Renal agenesis Testicular regression syndrome
1 gene
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DHX37(1)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. —
Muscle eye brain disease myopathy caused by variation in CRPPA
1 gene
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1 of 1 corroborated by 2+ sources
CRPPA(3)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 14 →
Muscle eye brain disease myopathy caused by variation in FKRP
1 gene
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1 of 1 corroborated by 2+ sources
FKRP(4)
0.063 1.000 9.74e-4 1.67e-3 ✓ sig. Cluster 14 →

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