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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
Bile duct disease Porphyria
1 gene
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1 of 1 corroborated by 2+ sources
FECH(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Brain atrophy Early onset alzheimers disease with behavioral disturbance
1 gene
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LRRK2(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Brittle cornea syndrome Congenital skin anomaly
1 gene
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1 of 1 corroborated by 2+ sources
ZNF469(6)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 377 →
Brittle cornea syndrome Skin abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
ZNF469(5)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 377 →
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Contracture
1 gene
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1 of 1 corroborated by 2+ sources
PRG4(6)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 52 →
Acetyl-coa acetyltransferase deficiency Carbohydrate metabolism disease
1 gene
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1 of 1 corroborated by 2+ sources
ACAT1(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Adrenoleukodystrophy Eye disorder
1 gene
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1 of 1 corroborated by 2+ sources
SCD(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Amed syndrome Head and neck cancer
1 gene
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1 of 1 corroborated by 2+ sources
ALDH2(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Apraxia Ophthalmoplegia
1 gene
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NPC1(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 380 →
12p12.1 microdeletion syndrome Hoarding disorder
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Acrocapitofemoral dysplasia Retinopathy of prematurity
1 gene
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1 of 1 corroborated by 2+ sources
IHH(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
acute myeloid leukemia Hoarding disorder
1 gene
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1 of 1 corroborated by 2+ sources
CEBPA(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 278 →
Acys amyloidosis Oral submucous fibrosis
1 gene
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1 of 1 corroborated by 2+ sources
CST3(4)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Adult polyglucosan body disease Cutis laxa
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. —
AIPL1-related retinopathy Fraser syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AIPL1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Alkuraya-kucinskas syndrome Dandy-walker syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BLTP1(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
anterior segment dysgenesis 7 Visual disorder
1 gene
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1 of 1 corroborated by 2+ sources
PXDN(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
aortic valve disease 3 Congenital diaphragmatic hernia
1 gene
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1 of 1 corroborated by 2+ sources
ROBO4(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Common atrium Congenital diaphragmatic hernia
1 gene
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CDK8(1)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Congenital cerebral hernia Dandy-walker syndrome
1 gene
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PIBF1(1)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 8 →
Arhinia-choanal atresia-microphthalmia syndrome Cryptorchidism
1 gene
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1 of 1 corroborated by 2+ sources
SMCHD1(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome 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. —
Atypical fanconi syndrome Intrahepatic cholestasis of pregnancy
1 gene
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1 of 1 corroborated by 2+ sources
HNF4A(3)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
autosomal recessive cutis laxa type 2B Cutis laxa
1 gene
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1 of 1 corroborated by 2+ sources
PYCR1(7)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 80 →
autosomal recessive cutis laxa type 2C Cutis laxa
1 gene
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1 of 1 corroborated by 2+ sources
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 80 →

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