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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▼ Shared cluster
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. —
Testicular seminoma Urticaria pigmentosa
1 gene
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KIT(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Cooleys anemia Thalassemia intermedia
1 gene
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HBB(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Dominant beta-thalassemia Thalassemia intermedia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c disease Thalassemia intermedia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c beta thalassemia Thalassemia intermedia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin d disease Thalassemia intermedia
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
tibial muscular dystrophy TTN-related myopathy, dominant-negative TTNsv
1 gene
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TTN(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
tooth agenesis, selective, 1 Tooth and nail syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 159 →
tooth agenesis, selective, 1 Witkop syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 159 →
Tooth and nail syndrome Witkop syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 159 →
Transthyretin amyloid cardiomyopathy Wild-type transthyretin-related amyloidosis
1 gene
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TTR(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 182 →
Progressive contractures limb-girdle weakness muscle dystrophy syndrome TTN-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →

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