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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
Exudative vitreoretinopathy FZD4-related exudative vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
FZD4(6)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 288 →
Bartter syndrome Genetic renal tubular disease
1 gene
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SLC12A3(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
dystonia 27 Genetic torsion dystonia
1 gene
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1 of 1 corroborated by 2+ sources
COL6A3(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Genetic torsion dystonia GTP cyclohydrolase I deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCH1(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Ghosal hematodiaphyseal dysplasia Imperforate anus
1 gene
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1 of 1 corroborated by 2+ sources
TBXAS1(7)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 103 →
Glucocorticoid deficiency Intermittent explosive disorder
1 gene
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COMT(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Glycoprotein vi deficiency Von willebrand disorder
1 gene
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GP6(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
G6PD deficiency Granulomatous disease
1 gene
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1 of 1 corroborated by 2+ sources
G6PD(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 87 →
anemia, nonspherocytic hemolytic, due to G6PD deficiency Granulomatous disease
1 gene
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1 of 1 corroborated by 2+ sources
G6PD(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 87 →
Combined pituitary hormone deficiency Growth hormone deficiency with pituitary anomalies
1 gene
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1 of 1 corroborated by 2+ sources
HESX1(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 218 →
Growth hormone deficiency with pituitary anomalies Pituitary hormone deficiency
1 gene
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HESX1(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 218 →
Growth retardation, developmental delay, and facial dysmorphism Venous insufficiency
1 gene
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1 of 1 corroborated by 2+ sources
FTO(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Diabetic polyneuropathy Growth retardation, developmental delay, and facial dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
FTO(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Lucey-driscoll syndrome Serum bilirubin level
1 gene
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1 of 1 corroborated by 2+ sources
UGT1A1(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Collagenopathy Maffucci syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 11 →
Coxa plana Maffucci syndrome
1 gene
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COL2A1(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 11 →
Czech dysplasia Maffucci syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 11 →
Dysspondyloenchondromatosis Maffucci syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 11 →
Male infertility globozoospermia Xy gonadal dysgenesis syndrome
1 gene
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PPP2R3C(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Male infertility large polyploid spermatozoa spermatogenic failure 56
1 gene
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1 of 1 corroborated by 2+ sources
DNAH10(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 133 →
Male infertility large polyploid spermatozoa spermatogenic failure 46
1 gene
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1 of 1 corroborated by 2+ sources
DNAH8(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 133 →
Male infertility large polyploid spermatozoa spermatogenic failure 5
1 gene
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1 of 1 corroborated by 2+ sources
AURKC(4)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Imperforate anus MED12-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED12(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Maffucci syndrome Metaphyseal enchondromatosis
1 gene
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1 of 1 corroborated by 2+ sources
IDH1(3)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Anencephaly methylcobalamin deficiency type cblE
1 gene
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1 of 1 corroborated by 2+ sources
MTRR(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. Cluster 121 →

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