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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▼ Shared cluster
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Non-specific syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MED27(3)
0.003 1.000 2.39e-2 2.57e-2 ✓ sig. Cluster 6 →
Eczema NIK deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MAP3K14(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Biotinidase deficiency Eczema
1 gene
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1 of 1 corroborated by 2+ sources
BTD(8)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Birbeck granule deficiency Eczema
1 gene
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1 of 1 corroborated by 2+ sources
CD207(4)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Eczema severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATAD2B(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Eczema Prader-willi-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CPE(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Eczema RCBTB1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RCBTB1(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Congenital microtia Eczema
1 gene
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1 of 1 corroborated by 2+ sources
PRKRA(3)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Eczema Intellectual developmental disorder neuropsychiatric
1 gene
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1 of 1 corroborated by 2+ sources
SLC45A1(4)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. Cluster 252 →
Eczema Juvenile absence epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
EFHC1(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Eczema KCND2-related neurodevelopmental disorder with or without seizures
1 gene
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1 of 1 corroborated by 2+ sources
KCND2(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Cleft palate proliferative retinopathy developmental delay Eczema
1 gene
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1 of 1 corroborated by 2+ sources
LRRC32(4)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Eczema Xy gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R3C(2)
0.003 1.000 2.37e-2 2.55e-2 ✓ sig. —
Auditory neuropathy with optic atrophy Optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
FDXR(5)
0.005 0.500 2.34e-2 2.52e-2 ✓ sig. —
Congestive heart failure Lewis lung carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
TXNRD1(2)
0.006 0.500 2.31e-2 2.49e-2 ✓ sig. —
Brody myopathy Congestive heart failure
1 gene
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1 of 1 corroborated by 2+ sources
ATP2A1(6)
0.006 0.500 2.31e-2 2.49e-2 ✓ sig. —
Butyryl-coa dehydrogenase deficiency Congestive heart failure
1 gene
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1 of 1 corroborated by 2+ sources
ACADS(2)
0.006 0.500 2.31e-2 2.49e-2 ✓ sig. —
Bosch-boonstra-schaaf optic atrophy syndrome Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
NR2F1(5)
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. —
CACNA2D4-related retinopathy Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. —
autosomal recessive optic atrophy, OPA7 type Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. Cluster 7 →
BBS1-related ciliopathy Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
BBS1(4)
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. —
BBS2-related ciliopathy Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
BBS2(7)
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. —
BBS4-related ciliopathy Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
BBS4(3)
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. —
BBS5-related ciliopathy Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
BBS5(2)
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. Cluster 7 →
BBS7-related ciliopathy Retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
BBS7(3)
0.003 1.000 2.31e-2 2.49e-2 ✓ sig. —

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