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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
Hereditary ataxia NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Hereditary breast-ovarian cancer syndrome PALB2-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
PALB2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Hereditary continuous muscle fiber activity Paroxysmal dyskinesia
1 gene
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1 of 1 corroborated by 2+ sources
KCNA1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 58 →
Hereditary hyperekplexia sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
1 gene
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1 of 1 corroborated by 2+ sources
GPHN(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 379 →
Hereditary neuropathy with liability to pressure palsies Paresthesia
1 gene
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1 of 1 corroborated by 2+ sources
PMP22(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
hereditary von Willebrand disease Intracranial thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
VWF(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 266 →
Congenital hip dysplasia Hip dislocation-facial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TRIM33(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 11 →
Hyperandrogenism Right bundle branch block
1 gene
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1 of 1 corroborated by 2+ sources
BMPR2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 339 →
Hyperandrogenism Right cardiac ventricular dilatation
1 gene
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1 of 1 corroborated by 2+ sources
BMPR2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 339 →
Hyperekplexia sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
1 gene
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1 of 1 corroborated by 2+ sources
GPHN(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 379 →
hypertrichotic osteochondrodysplasia Cantu type Kleefstra syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ABCC9(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 234 →
Bilateral multicystic dysplastic kidney Hyperuricemic nephropathy
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 23 →
Hyperuricemic nephropathy Renal dysplasia
1 gene
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HNF1B(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 23 →
Giant cell tumor of tendon sheath Hyperuricemic nephropathy
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 23 →
Hypochromic anemia Hypochromic microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC11A2(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 227 →
Hypochromic microcytic anemia Refractory anemia
1 gene
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1 of 1 corroborated by 2+ sources
TNF(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Hypochromic microcytic anemia Hypochromic sideroblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
STEAP3(7)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 227 →
hypomagnesemia, seizures, and intellectual disability 1 Magnesium metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
CNNM2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 341 →
hypopigmentation-punctate palmoplantar keratoderma syndrome Pseudoxanthoma elasticum
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 128 →
Congenital factor v deficiency Diabetes macrovascular complications
1 gene
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1 of 1 corroborated by 2+ sources
F5(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 37 →
Diabetes macrovascular complications East texas bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
F5(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 37 →
Diabetes macrovascular complications thrombophilia due to activated protein c resistance
1 gene
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1 of 1 corroborated by 2+ sources
F5(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 37 →
Diabetes macrovascular complications Male infertility motility disorder
1 gene
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1 of 1 corroborated by 2+ sources
CCDC146(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 37 →
Diabetic foot Nonobstructive azoospermia
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A8(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Clapo syndrome Diaphragmatic malformations
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 44 →

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