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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
dyskeratosis congenita, autosomal dominant 2 Telomere-related pulmonary fibrosis and/or bone marrow failure
1 gene
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1 of 1 corroborated by 2+ sources
TERT(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital chromosomal disease Telomere-related pulmonary fibrosis and/or bone marrow failure
1 gene
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1 of 1 corroborated by 2+ sources
POT1(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus Temperature-sensitive oculocutaneous albinism
1 gene
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1 of 1 corroborated by 2+ sources
TYR(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Accessory skin tag P5CS deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Pantothenate kinase-associated neurodegeneration Rubinstein-taybi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PANK2(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Paraneoplastic syndrome Secondary polycythemia
1 gene
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1 of 1 corroborated by 2+ sources
EPO(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus Patent ductus venosus
1 gene
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1 of 1 corroborated by 2+ sources
AHR(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 191 →
Penile hypospadia peroxisome biogenesis disorder due to PEX1 defect
1 gene
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1 of 1 corroborated by 2+ sources
PEX1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
perrault syndrome 2 Xx gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HARS2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 336 →
perrault syndrome 5 Xx gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TWNK(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Prader-willi syndrome Schaaf-yang syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAGEL2(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Bilateral parasagittal parieto-occipital polymicrogyria Penile hypospadia
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 103 →
Bisphosphoglycerate mutase deficiency Secondary polycythemia
1 gene
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1 of 1 corroborated by 2+ sources
BPGM(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 105 →
Blomstrand lethal chondrodysplasia Metaphyseal chondrodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Body mass index Growth retardation, developmental delay, and facial dysmorphism
1 gene
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1 of 1 corroborated by 2+ sources
FTO(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Body mass index Growth retardation, developmental delay, coarse facies, and early death
1 gene
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1 of 1 corroborated by 2+ sources
FTO(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Bohring-opitz syndrome Rubinstein-taybi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ASXL1(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Bone marrow neoplasms Mucositis
1 gene
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CSF3(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Bosma arhinia microphthalmia syndrome Facial nerve disorder
1 gene
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1 of 1 corroborated by 2+ sources
SMCHD1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 313 →
Brachydactyly-syndactyly syndrome Penile hypospadia
1 gene
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1 of 1 corroborated by 2+ sources
HOXD13(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Brachymesophalangy Penile hypospadia
1 gene
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HOXD13(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Brown oculocutaneous albinism Congenital nystagmus
1 gene
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OCA2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Brown oculocutaneous albinism Prader-willi syndrome
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. —
Camptosynpolydactyly Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
BHLHA9(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Carcinoid syndrome Paraganglioma
1 gene
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1 of 1 corroborated by 2+ sources
SDHD(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 81 →

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