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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
non-severe combined immunodeficiency due to polymerase delta deficiency POLD1-related polyposis and colorectal cancer syndrome
1 gene
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POLD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 410 →
Normal pressure hydrocephalus spermatogenic failure 19
1 gene
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1 of 1 corroborated by 2+ sources
CFAP43(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 133 →
normophosphatemic familial tumoral calcinosis Spectrum and myeloid neoplasm risk
1 gene
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1 of 1 corroborated by 2+ sources
SAMD9(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Amyloid polyneuropathy obsolete hereditary ATTR amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
TTR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 182 →
obsolete lethal restrictive dermopathy Restrictive dermopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 65 →
Ocular albinism with sensorineural deafness X-linked ocular abinism
1 gene
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AP3D1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 414 →
Ocular anomalies with axonal neuropathy and developmental delay Parenti-mignot neurodevelopmental syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD5(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
OFD1-related ciliopathy Otopalatodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OFD1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Opitz g/bbb syndrome Teebi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPECC1L(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 203 →
Opitz g/bbb syndrome Tessier facial cleft
1 gene
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1 of 1 corroborated by 2+ sources
SPECC1L(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 203 →
Optic nerve disorder PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Optic nerve disorder Urinary retention
1 gene
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1 of 1 corroborated by 2+ sources
EDN1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 74 →
Oropharyngeal dysphagia X-linked progressive cerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ATP2B3(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Osteogenic sarcoma Retinoblastoma
1 gene
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1 of 1 corroborated by 2+ sources
RB1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 3 →
Osteopetrosis and infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
PLA2G6(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Osteopetrosis and infantile neuroaxonal dystrophy Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Osteopetrosis and infantile neuroaxonal dystrophy polycystic liver disease 4 with or without kidney cysts
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Congenital idiopathic intestinal pseudoobstruction Otopalatodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital spectrum disorder Otopalatodigital syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital syndrome Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital syndrome X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Otopalatodigital syndrome X-linked keloid scarring syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 62 →
Collagenopathy Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
Coxa plana Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →
Czech dysplasia Otospondylomegaepiphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 11 →

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