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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
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 →
microphthalmia, syndromic 12 Orbital disease
1 gene
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1 of 1 corroborated by 2+ sources
RARB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Microstomia Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LEMD2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Miles-carpenter syndrome Wieacker syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Miles-carpenter syndrome Wieacker-wolff syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Minor epilepsy Nasal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
NPY(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
mosaic SMO syndrome Winter shortland temple syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMO(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 292 →
Mucocutaneous venous malformations TEK-related primary glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
TEK(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 261 →
Mucoepithelial dysplasia Urban-schosser-spohr syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SREBF1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Muenke syndrome Thanatophoric dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Multicystic dysplastic kidney Renal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 23 →
multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2B
1 gene
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RET(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 152 →
Multiple epiphyseal dysplasia with early-onset diabetes mellitus Wolcott-rallison syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EIF2AK3(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 338 →
Multisystem disorder TOR1AIP1-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Growth retardation, mild developmental delay, chronic hepatitis syndrome SH2B3-related immune system disorder
1 gene
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1 of 1 corroborated by 2+ sources
SH2B3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
GUCY2D-related dominant retinopathy GUCY2D-related recessive retinopathy
1 gene
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GUCY2D(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 45 →
hand-foot-genital syndrome Uterine bilocularis
1 gene
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1 of 1 corroborated by 2+ sources
HOXA13(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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