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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
CEP290-related ciliopathy Senior-loken syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CEP290(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Chromosome xq27.3-q28 duplication syndrome Congenital abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
FMR1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
ciliary dyskinesia, primary, 39 Costello syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRRC56(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Ck syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 381 →
Maturity-onset diabetes of the young pancreatic agenesis 1
1 gene
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1 of 1 corroborated by 2+ sources
PDX1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Erythrocytosis Paraneoplastic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EPO(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Paris-trousseau thrombocytopenia Platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Neuropathy, ataxia, and retinitis pigmentosa Periodic paralysis with later-onset distal motor neuropathy
1 gene
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ATP8(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 32 →
Neuropathy, ataxia, and retinitis pigmentosa Peripheral neuropathy with sensorineural hearing impairment syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB3(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Peripheral primitive neuroectodermal tumor Platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Lethal congenital contracture syndrome PIP5K1C-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
PIP5K1C(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 59 →
Platelet disorder platelet-type bleeding disorder 11
1 gene
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1 of 1 corroborated by 2+ sources
GP6(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Constitutional mismatch repair deficiency POLE-related polyposis and colorectal cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLE(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
progressive familial intrahepatic cholestasis type 3 Progressive intrahepatic cholestasis
1 gene
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1 of 1 corroborated by 2+ sources
ABCB4(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 319 →
Pruritus Urinary bladder calculi
1 gene
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1 of 1 corroborated by 2+ sources
AHR(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 191 →
Patent ductus venosus Pruritus
1 gene
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1 of 1 corroborated by 2+ sources
AHR(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 191 →
Pruritus Ureteral neoplasms
1 gene
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AHR(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 191 →
pseudohyperaldosteronism type 2 Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
NR3C2(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Pseudohypoaldosteronism Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
NR3C2(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
pseudohypoaldosteronism type 2D Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
KLHL3(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 95 →
pseudohypoaldosteronism type 2E Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
CUL3(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 95 →
pseudohypoaldosteronism, type IB1, autosomal recessive Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
SCNN1A(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 95 →
Macular and posterior pole degeneration RDH5-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RDH5(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
myopathy caused by variation in POMT1 Sensory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
POMT1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Lethal congenital contracture syndrome neonatal-onset encephalopathy with rigidity and seizures
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —

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