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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
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Myofibromatosis
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH3(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebral folate deficiency Dias-logan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CIC(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cerebrofacioarticular syndrome Hennekam syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAT4(5)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Chilblain lupus Deoxyguanosine kinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SAMHD1(4)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 150 →
Cholesterol ester transfer protein deficiency Follicular cyst
1 gene
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1 of 1 corroborated by 2+ sources
SCARB1(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Chromosome 17 deletion Chromosome 17q21.31 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Atrial standstill Chromosome 1q21.1 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJA5(4)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cleft face White sutton syndrome
1 gene
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GLI2(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Clonal cytopenia of undetermined significance Transient myeloproliferative disorder
1 gene
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RUNX1(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Cochlear diseases Navajo neurohepatopathy
1 gene
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1 of 1 corroborated by 2+ sources
MPV17(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Colonic polyps Thoracic disease
1 gene
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1 of 1 corroborated by 2+ sources
ILK(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Combined deficiency of factor v and factor viii Combined immunodeficiency, enteropathy spectrum
1 gene
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1 of 1 corroborated by 2+ sources
MCFD2(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Combined deficiency of factor v and factor viii Gastrointestinal defects and immunodeficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MCFD2(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Combined factor v and factor viii deficiency Combined immunodeficiency, enteropathy spectrum
1 gene
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1 of 1 corroborated by 2+ sources
MCFD2(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Combined factor v and factor viii deficiency Gastrointestinal defects and immunodeficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MCFD2(6)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —
Activated pi3k-delta syndrome Combined immunodeficiency with facio-oculo-skeletal anomalies
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CD(3)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 181 →
Combined immunodeficiency with granulomatosis Salla disease
1 gene
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1 of 1 corroborated by 2+ sources
RAG2(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 173 →
Combined immunodeficiency-multiple intestinal atresia Heparin cofactor 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PI4KA(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 267 →
Congenital bone marrow failure syndrome Growth hormone insensitivity syndrome with immune dysregulation
1 gene
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1 of 1 corroborated by 2+ sources
ERCC6L2(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 3 →
Congenital cardiomyopathy Myoclonic epilepsy with ragged red fibers
1 gene
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ND5(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 32 →
Congenital facial anomaly Hypoplastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 168 →
Congenital facial anomaly Congenital hypoplastic anemia
1 gene
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CAD(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 168 →
Congenital hemangioma Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
1 gene
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1 of 1 corroborated by 2+ sources
GNA11(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 40 →
Congenital kidney anomaly Polycystic kidney disease with tuberous sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
PKD1(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 70 →
Congenital kidney anomaly Renovascular hypertension
1 gene
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PKD1(1)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. Cluster 70 →

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