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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
Dysspondyloenchondromatosis Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
kniest dysplasia Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
ifap syndrome 1, with or without bresheck syndrome Keratosis follicularis spinulosa decalvans, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 332 →
ifap syndrome 1, with or without bresheck syndrome Olmsted syndrome, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS2(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 332 →
IFT140-related recessive ciliopathy Saldino-mainzer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IFT140(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 374 →
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema IKBKG-related immunodeficiency with or without ectodermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
IKBKG(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Autoinflammatory disease, systemic, x-linked IKBKG-related immunodeficiency with or without ectodermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
IKBKG(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Bloch sulzberger syndrome IKBKG-related immunodeficiency with or without ectodermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
IKBKG(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
immunodeficiency due to CD25 deficiency Neonatal diabetes mellitus with congenital hypothyroidism
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 394 →
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Oculopharyngeal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema incontinentia pigmenti
1 gene
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1 of 1 corroborated by 2+ sources
IKBKG(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Autoinflammatory disease, systemic, x-linked incontinentia pigmenti
1 gene
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1 of 1 corroborated by 2+ sources
IKBKG(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Bloch sulzberger syndrome incontinentia pigmenti
1 gene
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1 of 1 corroborated by 2+ sources
IKBKG(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 87 →
Childhood-onset glut1 deficiency syndrome 2 infantile convulsions and choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
PRRT2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 58 →
inherited thrombocytopenia Myofibromatosis
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH3(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Insulin resistant diabetes mellitus Insulin-resistant diabetes mellitus with acanthosis nigricans
1 gene
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1 of 1 corroborated by 2+ sources
INSR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Insulin resistant diabetes mellitus Type a insulin resistance syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INSR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intellectual developmental disorder autism speech dysmorphic Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 49 →
Intellectual developmental disorder dysmorphic microcephaly Intellectual developmental disorder growth microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
CTCF(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Osteopathia striata with cranial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 104 →
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Vascular calcification
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 104 →
Ebstein anomaly Intellectual developmental disorder hypotonia behavioral
1 gene
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1 of 1 corroborated by 2+ sources
CDK8(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intellectual developmental disorder hypotonic x-linked X-linked alpha-thalassemia-intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATRX(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 122 →
Intellectual developmental disorder hypotonic x-linked Say meyer syndrome
1 gene
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HUWE1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 122 →
Intellectual developmental disorder language autism Intellectual developmental disorder seizures hypotonia skeletal
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 324 →

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