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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
Parkinsonism-dystonia SLC6A3-related dopamine transporter deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A3(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 392 →
Partial agenesis of corpus callosum Preaxial polydactyly with upper back hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SHH(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 232 →
Partial agenesis of corpus callosum Skeletal system disorder
1 gene
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SHH(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 232 →
Peptic esophagitis Vitamin d deficiency
1 gene
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1 of 1 corroborated by 2+ sources
VDR(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Periportal fibrosis Ventricular hypertrophy
1 gene
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PKHD1(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 157 →
Ankylosis Pfeiffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(8)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 85 →
Beare-stevenson cutis gyrata syndrome Pfeiffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(8)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 85 →
Cutis gyrata syndrome Pfeiffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(8)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 85 →
Polycythemia, primary familial and congenital SH2B3-related immune system disorder
1 gene
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1 of 1 corroborated by 2+ sources
SH2B3(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Microvascular angina Portal vein thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 204 →
homocystinuria due to methylene tetrahydrofolate reductase deficiency Portal vein thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 204 →
Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome White sutton syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLI2(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Potocki-shaffer syndrome Seizures, scoliosis, and macrocephaly/microcephaly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EXT2(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 93 →
Preaxial polydactyly with upper back hypertrichosis Skeletal system disease
1 gene
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1 of 1 corroborated by 2+ sources
SHH(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Erythromelalgia Primary erythromelalgia
1 gene
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1 of 1 corroborated by 2+ sources
SCN9A(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 164 →
Arthropathy progressive pseudorheumatoid arthropathy of childhood
1 gene
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1 of 1 corroborated by 2+ sources
CCN6(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 24 →
PTEN hamartoma tumor syndrome Retinal vasculopathy with cerebral leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Refractory anemia Spinal cord compression
1 gene
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1 of 1 corroborated by 2+ sources
TNF(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 300 →
Renal cysts and diabetes syndrome Renal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 23 →
Burkitt lymphoma Coffin-siris syndrome
2 genes
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2 of 2 corroborated by 2+ sources
ARID1A(5), SMARCA4(5)
0.057 0.118 1.94e-4 5.35e-4 ✓ sig. —
Emphysema Hepatic insufficiency
2 genes
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NFE2L2(1), NOS2(1)
0.045 0.222 1.89e-4 5.35e-4 ✓ sig. —
Corneal ulcer Proliferative diabetic retinopathy
2 genes
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1 of 2 corroborated by 2+ sources
SERPINF1(2), UTRN(1)
0.045 0.222 1.89e-4 5.35e-4 ✓ sig. Cluster 399 →
Retinal detachment Rhegmatogenous retinal detachment
2 genes
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1 of 2 corroborated by 2+ sources
COL2A1(3), FAT3(1)
0.038 0.286 1.82e-4 5.35e-4 ✓ sig. —
Glycogen storage disease Ventricular dysfunction
3 genes
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3 of 3 corroborated by 2+ sources
TNNT2(2), PIK3CA(2), GAA(7)
0.037 0.081 1.81e-4 5.35e-4 ✓ sig. —
Developmental regression Sick sinus syndrome
2 genes
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MECP2(1), LMNA(1)
0.057 0.111 1.95e-4 5.37e-4 ✓ sig. —

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