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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
khan-khan-katsanis syndrome Testicular germ cell tumor
1 gene
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1 of 1 corroborated by 2+ sources
NCAPG2(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Aortic stenosis Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HMGB1(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome Frontotemporal dementia
1 gene
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1 of 1 corroborated by 2+ sources
MEF2C(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Brain abnormalities neurodegeneration dysosteosclerosis Frontotemporal dementia
1 gene
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1 of 1 corroborated by 2+ sources
CSF1R(5)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
B-cell acute lymphoblastic leukemia Casgid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLS(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Cataract-growth hormone deficiency-skeletal dysplasia syndrome Congenital cataract
1 gene
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1 of 1 corroborated by 2+ sources
IARS2(5)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Cataract-microcornea-metabolic syndrome Congenital cataract
1 gene
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1 of 1 corroborated by 2+ sources
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
ARHGAP29-related non-syndromic orofacial cleft Cleft palate
1 gene
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1 of 1 corroborated by 2+ sources
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Asplenia Frontotemporal dementia
1 gene
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1 of 1 corroborated by 2+ sources
RPSA(3)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome B-cell acute lymphoblastic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
CEBPE(3)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Axonal neuropathy Congenital cataract
1 gene
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1 of 1 corroborated by 2+ sources
GBF1(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Congenital cataract Congenital cataract severe neonatal hepatopathy developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CYP51A1(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. Cluster 43 →
Aortic stenosis Congenital hypogonadotropic hypogonadism
1 gene
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1 of 1 corroborated by 2+ sources
EMX2(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Congenital malrotation of intestine Oropharyngeal cancer
1 gene
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1 of 1 corroborated by 2+ sources
GALNT14(2)
0.016 1.000 3.90e-3 4.94e-3 ✓ sig. —
Color vision deficiency Ear disorder
2 genes
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SCML4(1), COL26A1(1)
0.002 1.000 3.93e-3 4.99e-3 ✓ sig. Cluster 2 →
Atypical femoral fracture Nasal polyp
2 genes
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IL18R1(1), SLC9A4(1)
0.027 0.054 3.94e-3 4.99e-3 ✓ sig. —
Autoinflammatory syndrome, familial, behcet-like Myositis
1 gene
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1 of 1 corroborated by 2+ sources
TNFAIP3(5)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. Cluster 25 →
autosomal systemic lupus erythematosus type 16 Myositis
1 gene
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1 of 1 corroborated by 2+ sources
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. Cluster 25 →
Congenital brain dysgenesis due to glutamine synthetase deficiency Huntington disease
1 gene
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1 of 1 corroborated by 2+ sources
GLUL(5)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. Cluster 57 →
Cerebellar-facial-dental syndrome Huntington disease
1 gene
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1 of 1 corroborated by 2+ sources
BRF1(6)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Myositis
1 gene
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1 of 1 corroborated by 2+ sources
MYH2(3)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Chromosome 5q12 deletion syndrome Myositis
1 gene
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1 of 1 corroborated by 2+ sources
PDE4D(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
fibrodysplasia ossificans progressiva Myositis
1 gene
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1 of 1 corroborated by 2+ sources
ACVR1(3)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Gastroschisis Huntington disease
1 gene
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1 of 1 corroborated by 2+ sources
ADD1(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Pulmonary hypertension
1 gene
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1 of 1 corroborated by 2+ sources
GBA1(4)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —

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