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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
Immunodeficiency Intellectual developmental disorder dysmorphic skeletal hair
1 gene
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1 of 1 corroborated by 2+ sources
BCL11B(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency Intellectual developmental disorder speech dysmorphic t-cell
1 gene
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1 of 1 corroborated by 2+ sources
BCL11B(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly Renal cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
PIDD1(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Cholelithiasis jaberi-elahi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GTPBP2(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Colorectal adenoma lethal occipital encephalocele-skeletal dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CYP26B1(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
macrothrombocytopenia, isolated, 1, autosomal dominant Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
TUBB1(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 33 →
Cholelithiasis mednik syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AP1S1(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
STAT1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency Mucosa-associated lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
BCL10(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
renal hypomagnesemia 3 Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
CLDN16(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency severe combined immunodeficiency due to CARMIL2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CARMIL2(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →
Immunodeficiency severe combined immunodeficiency due to CORO1A deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CORO1A(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency severe combined immunodeficiency due to CTPS1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CTPS1(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →
Immunodeficiency severe combined immunodeficiency due to DNA-PKcs deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PRKDC(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency severe combined immunodeficiency due to LAT deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LAT(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency severe combined immunodeficiency due to LCK deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LCK(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →
Pelvic organ prolapse severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ADA(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency susceptibility to respiratory infections associated with CD8alpha chain mutation
1 gene
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1 of 1 corroborated by 2+ sources
CD8A(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia thrombocytopenia 10
1 gene
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1 of 1 corroborated by 2+ sources
PTPRJ(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
RAP1B(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia thrombocytopenia 2
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD26(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia thrombocytopenia 3
1 gene
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1 of 1 corroborated by 2+ sources
FYB1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia thrombocytopenia 7
1 gene
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1 of 1 corroborated by 2+ sources
IKZF5(5)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia Thrombocytopenia with anemia and myelofibrosis
1 gene
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1 of 1 corroborated by 2+ sources
MPIG6B(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 33 →
Thrombocytopenia Thrombocytopenia with platelet secretion defect
1 gene
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1 of 1 corroborated by 2+ sources
SLFN14(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —

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