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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
Acro-dermo-ungual-lacrimal-tooth syndrome Omphalocele exstrophy imperforate anus
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 27 →
Brown tendon sheath syndrome Parathyroid disease
1 gene
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1 of 1 corroborated by 2+ sources
MAFB(2)
0.143 0.333 7.79e-4 1.41e-3 ✓ sig. —
Aortic arch syndrome Parapsoriasis
1 gene
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1 of 1 corroborated by 2+ sources
HLA-A(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 1 →
Aortic arch syndrome Vaginal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
IL2(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Specific learning disability Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 268 →
H syndrome Hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Boichis syndrome Coach syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(5)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 306 →
Coach syndrome Senior-boichis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(6)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 306 →
Cerebellar malformation Coach syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(5)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 306 →
Drash syndrome Peritoneal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 35 →
Denys drash syndrome Peritoneal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
WT1(6)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. Cluster 35 →
Acro-dermo-ungual-lacrimal-tooth syndrome Skin abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Dwarfism Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(3)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Congenital skin anomaly
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —
Polycythemia vera Tatton-Brown-Rahman overgrowth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DNMT3A(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Digestive system neoplasms H syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Breast disease
1 gene
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1 of 1 corroborated by 2+ sources
TP63(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 27 →
Bonnevie-ullrich syndrome Esophageal stenosis
1 gene
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1 of 1 corroborated by 2+ sources
SOD2(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Bonnevie-ullrich syndrome Isolated somatotropin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Ateleiotic dwarfism Bonnevie-ullrich syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Acatalasia Bonnevie-ullrich syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CAT(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 285 →
Bonnevie-ullrich syndrome Peptic esophagitis
1 gene
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VDR(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
amyotrophic lateral sclerosis type 1 Bonnevie-ullrich syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOD1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 285 →
Cebalid syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
1 gene
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1 of 1 corroborated by 2+ sources
MTOR(2)
0.200 0.500 3.90e-4 8.67e-4 ✓ sig. —

Showing 25 of 202 matching pairs, sorted by significance (descending). Click a column header to sort.