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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
nephronophthisis 16 Situs inversus
1 gene
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1 of 1 corroborated by 2+ sources
ANKS6(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
nizon-isidor syndrome Platelet-type bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
MED12L(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 33 →
NOTCH1-related AOS spectrum disorder Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Hoarding disorder lamb-shaffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
CBL-related disorder Cryptorchidism
1 gene
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1 of 1 corroborated by 2+ sources
CBL(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Childhood apraxia of speech Hoarding disorder
1 gene
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1 of 1 corroborated by 2+ sources
FOXP2(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Chromosome 15q24 deletion syndrome Congenital diaphragmatic hernia
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 343 →
Chylothorax Situs inversus
1 gene
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PKD1L1(1)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 46 →
ciliary dyskinesia, primary, 40 Situs inversus
1 gene
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1 of 1 corroborated by 2+ sources
DNAH9(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 46 →
ciliary dyskinesia, primary, 44 Hoarding disorder
1 gene
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1 of 1 corroborated by 2+ sources
NEK10(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 278 →
Codas syndrome Congenital diaphragmatic hernia
1 gene
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1 of 1 corroborated by 2+ sources
LONP1(6)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
leukemia, acute myeloid, susceptibility to Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
FLT3(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Oral submucous fibrosis
1 gene
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1 of 1 corroborated by 2+ sources
CST3(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Hypertensive nephropathy macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
1 gene
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1 of 1 corroborated by 2+ sources
MYH9(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
MECOM-associated syndrome Splenomegaly
1 gene
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1 of 1 corroborated by 2+ sources
MECOM(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
focal segmental glomerulosclerosis 4, susceptibility to Hypertensive nephropathy
1 gene
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1 of 1 corroborated by 2+ sources
APOL1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Fraser syndrome fraser syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
GRIP1(6)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
FZD4-related exudative vitreoretinopathy Retinopathy of prematurity
1 gene
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1 of 1 corroborated by 2+ sources
FZD4(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 288 →
Fraser syndrome Genetic infertility
1 gene
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1 of 1 corroborated by 2+ sources
SPATA22(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 242 →
Cutis laxa glycogen storage disease due to glycogen branching enzyme deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GBE1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Glycoprotein vi deficiency Platelet-type bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
GP6(7)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
gnathodiaphyseal dysplasia Visual disorder
1 gene
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1 of 1 corroborated by 2+ sources
ANO5(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Biotinidase deficiency Cryptorchidism
1 gene
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1 of 1 corroborated by 2+ sources
BTD(7)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 103 →
bleeding disorder, platelet-type, 22 Platelet-type bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
EPHB2(5)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 33 →
Bnar syndrome Congenital diaphragmatic hernia
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(4)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —

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