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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
developmental and epileptic encephalopathy, 77 Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
PIGQ(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Developmental delay with behavioral abnormalities Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ADGRL1(4)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Parenti-mignot neurodevelopmental syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD5(4)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Regressive neurodevelopmental disorder dystonia seizures
1 gene
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IRF2BPL(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
1 gene
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1 of 1 corroborated by 2+ sources
IARS1(4)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Global developmental delay hawkinsinuria
1 gene
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1 of 1 corroborated by 2+ sources
HPD(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay hearing loss, autosomal recessive 119
1 gene
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1 of 1 corroborated by 2+ sources
AFG2B(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
hearing loss, autosomal recessive 120 Open angle glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
MINAR2(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Helsmoortel-van der aa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ADNP(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Global developmental delay Hemiparkinsonism hemiatrophy syndrome
1 gene
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H3-3B(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Hoxha-aliu syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ERI1(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay hypotonia, infantile, with psychomotor retardation and characteristic facies 2
1 gene
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1 of 1 corroborated by 2+ sources
UNC80(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
autosomal recessive spinocerebellar ataxia 20 Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
SNX14(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Bafopathy Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ACTL6A(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
basilicata-akhtar syndrome Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
MSL3(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 6 →
Beta-hexosaminidase a deficiency Global developmental delay
1 gene
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HEXA(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Chondroblastoma Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
H3-3B(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Cleft palate proliferative retinopathy developmental delay Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
LRRC32(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay thrombocytopenia-absent radius syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RBM8A(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay X-linked hereditary motor and sensory neuropathy
1 gene
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DRP2(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay X-linked intellectual disability, Cabezas type
1 gene
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1 of 1 corroborated by 2+ sources
CUL4B(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Global developmental delay Xia-gibbs syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(3)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Contiguous abcd1-dxs1375e deletion syndrome Global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
BCAP31(2)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Cutis marmorata Global developmental delay
1 gene
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TPP2(1)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. —
Deeah syndrome Open angle glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
MADD(4)
0.003 1.000 2.40e-2 2.58e-2 ✓ sig. Cluster 240 →

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