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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
Biliary-renal-neuro-skeletal syndrome Pelvic organ prolapse
1 gene
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1 of 1 corroborated by 2+ sources
IFT56(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
cardiomyopathy, dilated, 2e Pelvic organ prolapse
1 gene
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1 of 1 corroborated by 2+ sources
JPH2(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Caudal duplication anomaly Colorectal adenoma
1 gene
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1 of 1 corroborated by 2+ sources
AXIN1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Cerebellar-facial-dental syndrome Colorectal adenoma
1 gene
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1 of 1 corroborated by 2+ sources
BRF1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Charcot-Marie-Tooth disease type 4B2 Pelvic organ prolapse
1 gene
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1 of 1 corroborated by 2+ sources
SBF2(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Charcot-Marie-Tooth disease, demyelinating, type 1J Immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
ITPR3(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Childhood-onset common variable immunodeficiency due to arhgef1 deficiency Immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF1(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency Natural killer cell deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MCM4(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
neurodevelopmental disorder with hypotonia, neuropathy, and deafness Renal cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
SPTBN4(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 5 →
Immunodeficiency neutrophil immunodeficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAC2(6)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency NIK deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MAP3K14(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
nizon-isidor syndrome Thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
MED12L(2)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 33 →
Immunodeficiency non-severe combined immunodeficiency due to COPG1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
COPG1(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. Cluster 10 →
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. —
Thrombocytopenia thrombocytopenia-absent radius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RBM8A(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency TRAF3 haploinsufficiency
1 gene
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1 of 1 corroborated by 2+ sources
TRAF3(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia Udp-glucose 4-epimerase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GALE(3)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Thrombocytopenia Upshaw-schulman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —
Immunodeficiency X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SH3KBP1(4)
0.007 1.000 9.03e-3 1.03e-2 ✓ sig. —

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