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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
Growth hormone insensitivity syndrome Growth hormone insensitivity syndrome with immune dysregulation
1 gene
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1 of 1 corroborated by 2+ sources
STAT5B(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Colonic polyps Parkinson-dementia complex of guam
1 gene
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1 of 1 corroborated by 2+ sources
TRPM7(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 255 →
Colonic polyps macrothrombocytopenia, isolated
1 gene
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1 of 1 corroborated by 2+ sources
TRPM7(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 255 →
Combined cellular and humoral immune defects with granulomas Salla disease
1 gene
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1 of 1 corroborated by 2+ sources
RAG2(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 173 →
Combined deficiency of factor v and factor viii Factor v deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LMAN1(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Combined factor v and factor viii deficiency Factor v deficiency
1 gene
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1 of 1 corroborated by 2+ sources
LMAN1(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Combined immunodeficiency with skin granulomas Salla disease
1 gene
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1 of 1 corroborated by 2+ sources
RAG2(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 173 →
Combined saposin deficiency Pituitary adenoma
1 gene
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1 of 1 corroborated by 2+ sources
CDH23(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Common arterial trunk with aortic dominance Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Common arterial trunk with pulmonary dominance and interrupted aortic arch Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATA6(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Cone dystrophy, x-linked Cone monochromatism
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 214 →
Congenital asplenia Deletion 5q35 syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 161 →
Congenital aural atresia Congenital vertical talus
1 gene
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1 of 1 corroborated by 2+ sources
TSHZ1(7)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Congenital camptodactyly Congenital hypoplasia of femur
1 gene
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PLOD2(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 263 →
Congenital exomphalos Currarino syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PCSK5(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 94 →
Congenital exomphalos Sacral defect
1 gene
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1 of 1 corroborated by 2+ sources
PCSK5(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 94 →
Congenital hemangioma Cutis marmorata telangiectatica congenita
1 gene
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1 of 1 corroborated by 2+ sources
GNA11(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 40 →
Congenital hemangioma Port-wine stain
1 gene
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1 of 1 corroborated by 2+ sources
GNAQ(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 40 →
Congenital hereditary endothelial dystrophy Corneal endothelial dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SLC4A11(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 75 →
Infantile liver failure Verloes-bourguignon syndrome
1 gene
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SCYL1(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Deafness with congenital onychodystrophy Infantile myoclonic epilepsy
1 gene
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TBC1D24(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 90 →
Doors syndrome Infantile myoclonic epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(4)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 90 →
Infantile myoclonic epilepsy Periodic paralysis
1 gene
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TBC1D24(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 90 →
Intellectual developmental disorder seizures extrapyramidal Vulto-van silfhout-de vries syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DEAF1(5)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Interleukin 1 receptor antagonist deficiency Recurrent multifocal osteomyelitis
1 gene
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1 of 1 corroborated by 2+ sources
IL1RN(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 216 →

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