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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
Glutaminase deficiency Myositis
1 gene
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1 of 1 corroborated by 2+ sources
GLS(4)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Pulmonary hypertension pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK4(3)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Huntington disease hyper-IgE recurrent infection syndrome 5, autosomal recessive
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Acetyl-coa carboxylase deficiency Erectile dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
ACACA(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
developmental and epileptic encephalopathy, 41 Myositis
1 gene
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1 of 1 corroborated by 2+ sources
SLC1A2(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. Cluster 25 →
dilated cardiomyopathy 1V Huntington disease
1 gene
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1 of 1 corroborated by 2+ sources
PSEN2(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Myositis Separation anxiety disorder
1 gene
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1 of 1 corroborated by 2+ sources
DRD4(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Myositis spinocerebellar ataxia, autosomal recessive 25
1 gene
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1 of 1 corroborated by 2+ sources
ATG5(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. Cluster 25 →
Erectile dysfunction Multiple intestinal atresia
1 gene
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1 of 1 corroborated by 2+ sources
TTC7A(3)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Borderline personality disorder Pulmonary hypertension
1 gene
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1 of 1 corroborated by 2+ sources
TPH1(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Casgid syndrome Myositis
1 gene
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1 of 1 corroborated by 2+ sources
GLS(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
myopathy, proximal, and ophthalmoplegia Myositis
1 gene
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1 of 1 corroborated by 2+ sources
MYH2(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development Myositis
1 gene
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1 of 1 corroborated by 2+ sources
GLS(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Huntington disease Interleukin 6 quantitative trait
1 gene
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1 of 1 corroborated by 2+ sources
IL6R(3)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Huntington disease karyomegalic interstitial nephritis
1 gene
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1 of 1 corroborated by 2+ sources
FAN1(2)
0.016 1.000 3.96e-3 5.02e-3 ✓ sig. —
Auditory neuropathy Intellectual disability with craniofacial anomalies and cardiac defects
1 gene
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H1-4(1)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Cerebral folate deficiency Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Auditory neuropathy Charcot-Marie-Tooth disease type 2
1 gene
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1 of 1 corroborated by 2+ sources
NEFL(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2 Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
NEFL(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. Cluster 15 →
Cochlear diseases Congenital ear anomaly
1 gene
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1 of 1 corroborated by 2+ sources
PCDH15(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Auditory neuropathy Auditory neuropathy with optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
FDXR(5)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Bifid uvula Neural tube defects, x-linked
1 gene
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GRHL3(1)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Bilateral generalized polymicrogyria Congenital microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Pontocerebellar hypoplasia propionic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
PCCA(2)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —
Ocular anomalies with axonal neuropathy and developmental delay Pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
ATAD3A(5)
0.030 0.500 4.02e-3 5.09e-3 ✓ sig. —

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