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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
Charcot-marie-tooth disease, x-linked neuronopathy, distal hereditary motor, autosomal recessive 5
1 gene
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1 of 1 corroborated by 2+ sources
DNAJB2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 15 →
Niemann-pick disease Visceral acid sphingomyelinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(7)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
46,xy partial gonadal dysgenesis NR5A1-related sex development disorder
1 gene
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1 of 1 corroborated by 2+ sources
NR5A1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 38 →
obsolete early infantile epileptic encephalopathy Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GAD1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus oculocutaneous albinism type 1
1 gene
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1 of 1 corroborated by 2+ sources
TYR(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus oculocutaneous albinism type 2
1 gene
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1 of 1 corroborated by 2+ sources
OCA2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
oculocutaneous albinism type 2 Prader-willi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OCA2(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
ornithine carbamoyltransferase deficiency Urea cycle disorder
1 gene
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1 of 1 corroborated by 2+ sources
OTC(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
ornithine translocase deficiency Urea cycle disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 367 →
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Osteosclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Osteosclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Liposarcoma silver-russell syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
HMGA2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 342 →
17q11.2 microduplication syndrome Liposarcoma
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Cervical lymphadenopathy Liposarcoma
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Liposarcoma Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
loeys-dietz syndrome 2 Ruptured abdominal aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
TGFBR2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
loeys-dietz syndrome 2 Ruptured aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
TGFBR2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
loeys-dietz syndrome 2 Ruptured thoracic aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
TGFBR2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
loeys-dietz syndrome 2 Thoracoabdominal aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
TGFBR2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
lysosomal acid lipase deficiency Niemann-pick disease
1 gene
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1 of 1 corroborated by 2+ sources
LIPA(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Double outlet right ventricle megalencephaly-polydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Liposarcoma melanoma, cutaneous malignant, susceptibility to, 3
1 gene
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1 of 1 corroborated by 2+ sources
CDK4(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 342 →
membranoproliferative glomerulonephritis Mesangiocapillary glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
DGKE(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Metaphyseal chondrodysplasia SF3B4-related acrofacial dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
SF3B4(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital pectus carinatum Metaphyseal chondrodysplasia
1 gene
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FBN1(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —

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