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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
Corpus callosum agenesis Seckel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Clinodactyly Corpus callosum agenesis neuronopathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC12A6(3)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Corneal neovascularization Thyroid hormone resistance
1 gene
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1 of 1 corroborated by 2+ sources
TRHR(3)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Seckel syndrome Urethral syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
syndromic complex neurodevelopmental disorder Ververi-brady syndrome
1 gene
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1 of 1 corroborated by 2+ sources
QRICH1(5)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. Cluster 109 →
Clinodactyly Wilson-turner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HDAC8(3)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
17p13.3 microduplication syndrome Carcinogenesis
1 gene
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1 of 1 corroborated by 2+ sources
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Acral peeling skin syndrome Junctional epidermolysis bullosa
1 gene
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1 of 1 corroborated by 2+ sources
CSTA(3)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Agenesis of corpus callosum Clinodactyly
1 gene
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1 of 1 corroborated by 2+ sources
SLC12A6(2)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Aortic atherosclerosis Diabetic nephropathy type 2
1 gene
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NYAP2(1)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Bifid uvula Clinodactyly
1 gene
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ARF3(1)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Cardiac, facial, and digital anomalies with developmental delay syndromic complex neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRAF7(5)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Dyssegmental dysplasia Spondyloepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HSPG2(4)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic cerebellar Melas syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CYTB(2)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic ptosis syndromic complex neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
BRPF1(6)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. Cluster 109 →
Corneal neovascularization Intestinal polyposis
1 gene
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1 of 1 corroborated by 2+ sources
STK11(3)
0.050 0.500 2.34e-3 3.24e-3 ✓ sig. —
immune dysregulation, autoimmunity, and autoinflammation T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
PLCG1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction immunodeficiency 122
1 gene
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1 of 1 corroborated by 2+ sources
POLD3(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
immunodeficiency 123 with hpv-related verrucosis T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
CD28(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic cardiac short stature syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 224 →
Intellectual developmental disorder dysmorphic seizures syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
OTUD6B(6)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Intellectual developmental disorder growth microcephaly syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
CTCF(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Intellectual developmental disorder growth other organ syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PPM1D(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Intellectual disability with craniofacial dysmorphism and macrocephaly syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
H1-4(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —

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