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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
15q24 microdeletion Chromosome 15q24 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 343 →
15q24 microdeletion SIN3A-related intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 343 →
17,20-lyase deficiency Hyperkalemia
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
17p13.3 microduplication syndrome Chromosome 17p13.3 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
YWHAE(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 223 →
17q11 microdeletion syndrome 17q11.2 microduplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 77 →
17q11 microdeletion syndrome Cervical lymphadenopathy
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 77 →
17q11 microdeletion syndrome Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 77 →
17q12 microdeletion syndrome Bilateral multicystic dysplastic kidney
1 gene
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HNF1B(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 23 →
17q12 microdeletion syndrome Renal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 23 →
17q12 microdeletion syndrome Giant cell tumor of tendon sheath
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 23 →
17q12 microdeletion syndrome Multicystic dysplastic kidney
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 23 →
17q21.31 microdeletion syndrome Chromosome 17 deletion
1 gene
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1 of 1 corroborated by 2+ sources
KANSL1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
17q23.1q23.2 microdeletion syndrome Patellar aplasia
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 24 →
17q24.2 microdeletion syndrome Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BPTF(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
17q24.2 microdeletion syndrome stankiewicz-isidor syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSMD12(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
1p21.3 microdeletion syndrome Dihydropyrimidine metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
DPYD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 349 →
2-aminoadipic 2-oxoadipic aciduria Lysine metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
DHTKD1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
2-aminoadipic 2-oxoadipic aciduria Distal amyotrophy
1 gene
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1 of 1 corroborated by 2+ sources
DHTKD1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
2,4-dienoyl-coa reductase deficiency progressive encephalopathy with leukodystrophy due to DECR deficiency
1 gene
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1 of 1 corroborated by 2+ sources
NADK2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
22q13 monosomy syndrome Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 112 →
22q13 monosomy syndrome phelan-mcdermid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SHANK3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 112 →
A4GALT-congenital disorder of glycosylation Cortical congenital hyperostosis
1 gene
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1 of 1 corroborated by 2+ sources
A4GALT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 138 →
Aapoai amyloidosis Amyloid polyneuropathy
1 gene
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1 of 1 corroborated by 2+ sources
APOA1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Aapoai amyloidosis Apolipoprotein a-i deficiency
1 gene
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1 of 1 corroborated by 2+ sources
APOA1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
ABCA4-related retinopathy Diastolic heart failure
1 gene
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1 of 1 corroborated by 2+ sources
ABCA4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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