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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
colorectal cancer, hereditary nonpolyposis, type 7 Intestinal polyposis
1 gene
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1 of 1 corroborated by 2+ sources
MLH3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Colpocephaly Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 154 →
Cerebral small vessel disease Colpocephaly
1 gene
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COL4A1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined cellular and humoral immune defects with granulomas recombinase activating gene 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RAG1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 173 →
Combined cellular and humoral immune defects with granulomas recombinase activating gene 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RAG2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 173 →
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined immunodeficiency with facio-oculo-skeletal anomalies immunodeficiency 14b, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 181 →
Combined immunodeficiency with facio-oculo-skeletal anomalies immunodeficiency 14
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 181 →
Combined immunodeficiency with skin granulomas recombinase activating gene 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RAG1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 173 →
Combined immunodeficiency with skin granulomas recombinase activating gene 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RAG2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 173 →
Combined immunodeficiency-multiple intestinal atresia Multiple intestinal atresia
1 gene
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1 of 1 corroborated by 2+ sources
TTC7A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 267 →
Combined immunodeficiency, x-linked X-linked severe combined immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RG(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined immunodeficiency, x-linked T-B+ severe combined immunodeficiency due to gamma chain deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RG(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined malonic and methylmalonic acidemia Malonic aciduria
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined malonic and methylmalonic aciduria Malonic aciduria
1 gene
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1 of 1 corroborated by 2+ sources
ACSF3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined osteogenesis imperfecta and ehlers-danlos syndrome Maternal hypertension
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Combined osteogenesis imperfecta and ehlers-danlos syndrome Rhizomelia
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Combined osteogenesis imperfecta and ehlers-danlos syndrome ehlers-danlos syndrome, cardiac valvular type
1 gene
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1 of 1 corroborated by 2+ sources
COL1A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Combined psap deficiency Combined saposin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 118 →
Combined saposin deficiency Gaucher disease due to saposin C deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 118 →
Combined saposin deficiency Krabbe disease due to saposin A deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 118 →
Common arterial trunk with aortic dominance Conotruncal anomaly face syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common arterial trunk with aortic dominance GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common arterial trunk with pulmonary dominance and interrupted aortic arch Conotruncal anomaly face syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →
Common arterial trunk with pulmonary dominance and interrupted aortic arch GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 283 →

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