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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
Coenzyme a synthase protein associated neurodegeneration Pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
COASY(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Cohen syndrome Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VPS13B(7)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 54 →
Neurodegeneration peripheral neuropathy syndrome Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
neurodegeneration, childhood-onset, with cerebellar atrophy Pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
AGTPBP1(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Neural tube defects, x-linked neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Distal spinal muscular atrophy neuronopathy, distal hereditary motor, autosomal dominant
1 gene
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1 of 1 corroborated by 2+ sources
HSPB8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Distal spinal muscular atrophy neuronopathy, distal hereditary motor, type 7A
1 gene
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1 of 1 corroborated by 2+ sources
SLC5A7(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLIS3(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
C9 deficiency Dermatomyositis
1 gene
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1 of 1 corroborated by 2+ sources
C9(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Carboxypeptidase n deficiency Dermatomyositis
1 gene
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1 of 1 corroborated by 2+ sources
CPN1(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Caspase 8 deficiency Seborrheic keratosis
1 gene
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1 of 1 corroborated by 2+ sources
CASP8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia Tetrahydrobiopterin-responsive phenylketonuria
1 gene
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1 of 1 corroborated by 2+ sources
PAH(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Neuronal ceroid lipofuscinosis Visceral acid sphingomyelinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Seborrheic keratosis Woolly hair-skin fragility syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TUFT1(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 29 →
IL21-related infantile inflammatory bowel disease Selective iga deficiency disease
1 gene
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1 of 1 corroborated by 2+ sources
IL21(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
immunodeficiency 84 Selective iga deficiency disease
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
immunodeficiency, common variable, 12 Pharyngeal disorder
1 gene
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1 of 1 corroborated by 2+ sources
NFKB1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 137 →
immunodeficiency, common variable, 12 Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
NFKB1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
immunodeficiency, common variable, 2 Pharyngeal disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy inherited neurodegenerative disorder
1 gene
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1 of 1 corroborated by 2+ sources
KIF5A(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic macrocephaly Pharyngeal disorder
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 137 →
Intellectual developmental disorder microcephaly ocular Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX11(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy Intellectual disability with craniofacial dysmorphism and macrocephaly
1 gene
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1 of 1 corroborated by 2+ sources
H1-4(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
joubert syndrome 3 Selective iga deficiency disease
1 gene
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1 of 1 corroborated by 2+ sources
AHI1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 360 →

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