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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
Mainzer-saldino disease Saldino-mainzer syndrome
2 genes
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2 of 2 corroborated by 2+ sources
IFT140(3), IFT172(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 374 →
Mandibuloacral dysplasia Restrictive dermopathy
2 genes
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2 of 2 corroborated by 2+ sources
LMNA(6), ZMPSTE24(7)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 65 →
Multifocal osteomyelitis Recurrent multifocal osteomyelitis
2 genes
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2 of 2 corroborated by 2+ sources
IL1R1(4), IL1RN(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 216 →
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Yorifuji okuno syndrome
2 genes
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2 of 2 corroborated by 2+ sources
GATA4(2), GATA6(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 60 →
platelet-type bleeding disorder 16 Thrombasthenia
2 genes
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2 of 2 corroborated by 2+ sources
ITGB3(3), ITGA2B(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 33 →
Porphyruria Variegate porphyria
2 genes
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1 of 2 corroborated by 2+ sources
HFE(1), PPOX(6)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 196 →
Iridogoniodysgenesis Rieger syndrome
2 genes
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2 of 2 corroborated by 2+ sources
FOXC1(2), PITX2(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 253 →
Dysphasia Postictal aphasia
2 genes
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PLAT(1), L1CAM(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 258 →
Dysphasia Syntactic aphasia
2 genes
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PLAT(1), L1CAM(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 258 →
Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome
2 genes
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2 of 2 corroborated by 2+ sources
STN1(7), CTC1(7)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. —
Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dystonic choreoathetosis
2 genes
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2 of 2 corroborated by 2+ sources
SLC2A1(3), PRRT2(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 58 →
Glanzmann thrombasthenia Thrombasthenia
2 genes
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2 of 2 corroborated by 2+ sources
ITGB3(8), ITGA2B(8)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 33 →
Gorlin syndrome nevoid basal cell carcinoma syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PTCH1(3), PTCH2(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 203 →
Hyper-immunoglobulin d syndrome Mevalonate kinase deficiency
2 genes
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1 of 2 corroborated by 2+ sources
MVK(4), HMGCR(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 316 →
Hyper-immunoglobulin m syndrome Hyper-immunoglobulin syndrome
2 genes
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AICDA(1), CD40(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 131 →
Arteriovenous hemangioma Blue rubber bleb nevus syndrome
2 genes
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1 of 2 corroborated by 2+ sources
GLMN(1), TEK(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 261 →
Asymmetric septal hypertrophy Scapuloperoneal myopathy
2 genes
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1 of 2 corroborated by 2+ sources
MYH7(1), FHL1(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 89 →
Axenfeld anomaly Rieger syndrome
2 genes
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2 of 2 corroborated by 2+ sources
FOXC1(2), PITX2(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 253 →
Benign neonatal epilepsy Benign neonatal-infantile seizures
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 165 →
Bestrophinopathy Vitreoretinochoroidopathy
2 genes
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1 of 2 corroborated by 2+ sources
BEST1(7), FTH1(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. —
Cataract-intellectual disability-hypogonadism syndrome Congenital malformation syndromes predominantly affecting facial appearance
2 genes
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2 of 2 corroborated by 2+ sources
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 48 →
Cataract-intellectual disability-hypogonadism syndrome Warburg micro syndrome
2 genes
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2 of 2 corroborated by 2+ sources
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 48 →
Congenital secretory diarrhea Congenital sodium diarrhea
2 genes
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2 of 2 corroborated by 2+ sources
SLC9A3(4), GUCY2C(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 172 →
Deafness enamel hypoplasia nail defects Heimler syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PEX6(5), PEX1(4)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 219 →
Deafness-enamel hypoplasia-nail defects syndrome Heimler syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PEX6(4), PEX1(4)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 219 →

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