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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
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 →
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 →
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 →
Dejerine-lichtheim phenomenon Dysphasia
2 genes
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PLAT(1), L1CAM(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 258 →
Delta-beta thalassemia Lepore-beta-thalassemia syndrome
2 genes
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2 of 2 corroborated by 2+ sources
HBB(3), HBD(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 19 →
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 →
Combined molybdoflavoprotein enzyme deficiency Glycoprotein ia deficiency
2 genes
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ITGA2(1), MOCS2(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. —
Commisural aphasia Dysphasia
2 genes
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PLAT(1), L1CAM(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 258 →
Congenital aniridia Wagr syndrome
2 genes
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2 of 2 corroborated by 2+ sources
WT1(4), PAX6(4)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 35 →
Congenital bilateral absence of vas deferens Obstructive azoospermia
2 genes
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2 of 2 corroborated by 2+ sources
CFTR(5), ADGRG2(4)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. —
Congenital cerebral aneurysm Developmental venous anomaly
2 genes
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PDCD10(1), CCM2(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 308 →
Congenital malformation of cerebral vessels Developmental venous anomaly
2 genes
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PDCD10(1), CCM2(1)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 308 →
17 alpha-hydroxyprogesterone aldolase deficiency Male pseudohypopituitarism
2 genes
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2 of 2 corroborated by 2+ sources
AKR1C2(2), AKR1C4(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 344 →
22q13 monosomy syndrome 22q13.3 deletion syndrome
2 genes
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2 of 2 corroborated by 2+ sources
INS(2), SHANK3(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 112 →
Acrofacial dysostosis Curry-hall syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EVC(2), EVC2(3)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 289 →
Alport syndrome, x-linked X-linked diffuse leiomyomatosis with alport syndrome
2 genes
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2 of 2 corroborated by 2+ sources
COL4A5(4), COL4A6(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 49 →
Aphasia Dysphasia
2 genes
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2 of 2 corroborated by 2+ sources
PLAT(2), L1CAM(2)
0.400 1.000 5.06e-8 3.71e-7 ✓ sig. Cluster 258 →

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