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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
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. —
combined immunodeficiency due to ZAP70 deficiency Posterior cortical atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ZAP70(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 93 →
Congenital abnormalities NOTCH1-related AOS spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH1(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital abnormalities Middle lobe syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SALL1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLE1(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Congenital folate absorption defect Hyperhomocysteinemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
congenital heart defects, multiple types, 7 Lymphatic malformation
1 gene
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1 of 1 corroborated by 2+ sources
FLT4(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Byzanthine arch palate Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 381 →
Congenital hypoplasia of pancreas Maturity-onset diabetes of the young
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. —
Congenital ichthyosis Congenital ichthyosis with hypotrichosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ST14(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 233 →
Congenital microvillous atrophy Progressive intrahepatic cholestasis
1 gene
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1 of 1 corroborated by 2+ sources
MYO5B(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLE1(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Ataxia with polyneuropathy Neuropathy, ataxia, and retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
ATP6(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Atypical fanconi syndrome Maturity-onset diabetes of the young
1 gene
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1 of 1 corroborated by 2+ sources
HNF4A(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Agammaglobulinemia autosomal agammaglobulinemia
1 gene
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1 of 1 corroborated by 2+ sources
TCF3(4)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 181 →

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