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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
Repolarization syndrome Short qt syndrome
1 gene
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CACNB2(1)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Retinitis pigmentosa and erythrocytic microcytosis Sideroblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
TRNT1(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Cushing's disease Retractile testis
1 gene
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GNAI2(1)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Demyelinating diseases Retrognathia
1 gene
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1 of 1 corroborated by 2+ sources
PRRX1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Anhydramnios Rhyns syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Right isomerism Transposition of the great arteries
1 gene
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1 of 1 corroborated by 2+ sources
GDF1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 113 →
Right ventricle hypoplasia Transposition of the great arteries
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Growth retardation, developmental delay, and facial dysmorphism Sarcopenia
1 gene
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1 of 1 corroborated by 2+ sources
FTO(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Growth retardation, developmental delay, coarse facies, and early death Sarcopenia
1 gene
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1 of 1 corroborated by 2+ sources
FTO(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital fiber type disproportion myopathy SELENON-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
SELENON(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Esophageal stenosis Sideroblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SOD2(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Sideroblastic anemia X-linked erythropoietic protoporphyria
1 gene
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1 of 1 corroborated by 2+ sources
ALAS2(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 158 →
Sideroblastic anemia Spasticity with hyperglycinemia
1 gene
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1 of 1 corroborated by 2+ sources
GLRX5(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 158 →
Sideroblastic anemia Sideroblastic anemia with b-cell immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
TRNT1(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Silver-russell syndrome silver-russell syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
HMGA2(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Deglutition disorder SLC6A3-related dopamine transporter deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A3(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Gastroparesis spermatogenic failure 19
1 gene
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1 of 1 corroborated by 2+ sources
CFAP43(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital adrenal hyperplasia Steroid 11-beta-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP11B1(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Bone marrow neoplasms Stomatitis
1 gene
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1 of 1 corroborated by 2+ sources
CSF3(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Short qt syndrome Systemic primary carnitine deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC22A5(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Melanocytic nevus Temperature-sensitive oculocutaneous albinism
1 gene
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1 of 1 corroborated by 2+ sources
TYR(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
immunodeficiency 114, folate-responsive Transposition of the great arteries
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 113 →
Autoimmune lymphoproliferative disorder immunodeficiency 64
1 gene
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1 of 1 corroborated by 2+ sources
RASGRP1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 18 →
Hyperinsulinemic hypoglycemia Insulin-resistant diabetes mellitus with acanthosis nigricans
1 gene
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1 of 1 corroborated by 2+ sources
INSR(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Ataxia telangiectasia Intracranial germ cell tumor
1 gene
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1 of 1 corroborated by 2+ sources
BAK1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 348 →

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