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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
mandibular hypoplasia-deafness-progeroid syndrome POLD1-related polyposis and colorectal cancer syndrome
1 gene
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POLD1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 410 →
Masa syndrome Partial corpus callosum agenesis, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Masa syndrome X-linked complicated corpus callosum dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Masa syndrome X-linked complicated spastic paraplegia
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Masa syndrome X-linked hydrocephalus with stenosis of the aqueduct of sylvius
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 274 →
Mast cell leukemia Telangiectasia macularis eruptiva perstans
1 gene
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1 of 1 corroborated by 2+ sources
KIT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Mast cell leukemia Testicular seminoma
1 gene
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KIT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Mast cell leukemia Urticaria pigmentosa
1 gene
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KIT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Maternal hypertension Rhizomelia
1 gene
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COL1A1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 138 →
maternal riboflavin deficiency Riboflavin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC52A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Medullary thyroid cancer multiple endocrine neoplasia type 2B
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 152 →
Medullary thyroid cancer multiple endocrine neoplasia type 2A
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 152 →
meester-loeys syndrome X-linked thoracic aortic aneurysm
1 gene
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1 of 1 corroborated by 2+ sources
BGN(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
meester-loeys syndrome X-linked spondyloepimetaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
BGN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
megalencephalic leukoencephalopathy with subcortical cysts 2a megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
1 gene
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HEPACAM(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
melanoma-pancreatic cancer syndrome Trisomy
1 gene
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1 of 1 corroborated by 2+ sources
CDKN2A(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 384 →
mend syndrome X-linked dominant chondrodysplasia punctata
1 gene
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1 of 1 corroborated by 2+ sources
EBP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
menkes disease X-linked distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ATP7A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Metaphyseal chondrodysplasia with retinitis pigmentosa Retinitis pigmentosa with or without skeletal anomalies
1 gene
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1 of 1 corroborated by 2+ sources
CWC27(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 373 →
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency Methylmalonyl-coa mutase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MMUT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency Partial deficiency of methylmalonyl-coenzyme a mutase
1 gene
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1 of 1 corroborated by 2+ sources
MMUT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Methylmalonyl-coa mutase deficiency Partial deficiency of methylmalonyl-coenzyme a mutase
1 gene
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MMUT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Microcephalic dwarfism Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 268 →
microcephalic osteodysplastic dysplasia, Saul-Wilson type Saul-wilson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COG4(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
microcephaly with lissencephaly and/or hydranencephaly Microhydranencephaly
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 220 →

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