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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
Congenital heart septal defect renpenning syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PQBP1(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 364 →
Amnesia Retrograde amnesia
1 gene
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1 of 1 corroborated by 2+ sources
PREP(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 13 →
Hypoplastic left heart syndrome Right hypoplastic heart syndrome
1 gene
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TBX20(1)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Right ventricle hypoplasia Uremia
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Clinodactyly Satb2 associated syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SATB2(3)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Gross motor development delay Saul-wilson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COG4(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Potassium deficiency Sebaceous gland neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
LEF1(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Seckel syndrome seckel syndrome 10
1 gene
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1 of 1 corroborated by 2+ sources
NSMCE2(6)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 101 →
Short stature spectrum Spondyloepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
ACAN(7)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 211 →
Sick sinus syndrome sick sinus syndrome 2, autosomal dominant
1 gene
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1 of 1 corroborated by 2+ sources
HCN4(6)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 4 →
Silverman-Handmaker type dyssegmental dysplasia Spondyloepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HSPG2(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
SMAD6-related disease Thoracic aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
SMAD6(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia with congenital joint dislocations
1 gene
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1 of 1 corroborated by 2+ sources
CHST3(6)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia, kondo-fu type
1 gene
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1 of 1 corroborated by 2+ sources
MBTPS1(5)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 211 →
Lipodystrophy spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PCYT1A(4)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 71 →
cataract 50 with or without glaucoma syndromic complex neurodevelopmental disorder
1 gene
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TRPM3(1)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 109 →
LIPE-related familial partial lipodystrophy Lipodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LIPE(3)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 71 →
Diabetic nephropathy type 2 lissencephaly spectrum disorder with complex brainstem malformation
1 gene
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1 of 1 corroborated by 2+ sources
MACF1(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 73 →
Lipodystrophy mandibular hypoplasia-deafness-progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLD1(3)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Hemangiosarcoma Merkel cell carcinoma
1 gene
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MYC(1)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 3 →
Gross motor development delay microcephalic osteodysplastic dysplasia, Saul-Wilson type
1 gene
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1 of 1 corroborated by 2+ sources
COG4(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
microcephalic osteodysplastic primordial dwarfism type II Seckel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PCNT(4)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 101 →
microcephaly with or without short stature Seckel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CEP152(6)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. Cluster 101 →
Anorexia Minor epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
NPY(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Developmental regression mucopolysaccharidosis type 3A
1 gene
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1 of 1 corroborated by 2+ sources
SGSH(2)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —

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