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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
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Pericarditis
1 gene
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1 of 1 corroborated by 2+ sources
PRG4(6)
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Secondary malignant neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
PRG4(6)
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Down syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(5)
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Alpha-1 antichymotrypsin deficiency Lipidoses
1 gene
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1 of 1 corroborated by 2+ sources
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Alpha-1 antichymotrypsin deficiency Lipoidosis
1 gene
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0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Blepharoptosis Developmental delay with variable intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
TCF20(5)
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
B-lymphoblastic leukemia/lymphoma Duplication 15q11-q13 syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AUTS2(2)
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Dysautonomia Hereditary sensory and autonomic neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
ELP1(4)
0.048 0.500 2.47e-3 3.37e-3 ✓ sig. —
Developmental delay with ataxia, hypotonia, and facial dysmorphism Vesicoureteral reflux
1 gene
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1 of 1 corroborated by 2+ sources
EBF3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 323 →
Developmental delay Developmental delay with hypotonia and behavioral abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
SRCAP(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Developmental delay Developmental delay with hypotonia and impaired language
1 gene
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1 of 1 corroborated by 2+ sources
FBXW7(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 32 →
Developmental delay Developmental delay with variable neurological abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
LMBRD2(4)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 32 →
Dilatation of left cardiac ventricle Left ventricular noncompaction cardiomyopathy
1 gene
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ACTC1(1)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
dilated cardiomyopathy 1C Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
LDB3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
dilated cardiomyopathy 1CC Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
NEXN(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 4 →
dilated cardiomyopathy 1FF Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TNNI3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
dilated cardiomyopathy 1J Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
EYA4(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
dilated cardiomyopathy 1JJ Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
LAMA4(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 4 →
dilated cardiomyopathy 1KK Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
MYPN(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
dilated cardiomyopathy 1R Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
ACTC1(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
dilated cardiomyopathy 1Y Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM1(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 4 →
dilated cardiomyopathy 2A Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TNNI3(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cholangiocarcinoma Endometrioid carcinoma
1 gene
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MSLN(1)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Dermatitis renal hypomagnesemia 4
1 gene
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1 of 1 corroborated by 2+ sources
EGF(3)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —
Cone dystrophy retinitis pigmentosa 47
1 gene
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1 of 1 corroborated by 2+ sources
SAG(2)
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. —

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