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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
Central nervous system malformation Partial lipodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LMNB2(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 71 →
Childhood-onset spinal muscular atrophy Saldino-noonan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DYNC1H1(3)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Beckwith-wiedemann syndrome Chorioretinal atrophy
1 gene
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-(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 199 →
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young monogenic diabetes
1 gene
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1 of 1 corroborated by 2+ sources
HNF4A(6)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Follicular cyst Hypertensive heart disease
1 gene
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1 of 1 corroborated by 2+ sources
SCARB1(3)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Genitourinary disease Ureterolithiasis
1 gene
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BCAS3(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Glycoprotein ia deficiency Iron deficiency anemia
1 gene
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ITGA2(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Bile duct disease Porphyria
1 gene
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1 of 1 corroborated by 2+ sources
FECH(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Brain atrophy Early onset alzheimers disease with behavioral disturbance
1 gene
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LRRK2(1)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Brittle cornea syndrome Congenital skin anomaly
1 gene
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1 of 1 corroborated by 2+ sources
ZNF469(6)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 377 →
Brittle cornea syndrome Skin abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
ZNF469(5)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 377 →
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Contracture
1 gene
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1 of 1 corroborated by 2+ sources
PRG4(6)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 52 →
Biotinidase deficiency Cryptorchidism
1 gene
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1 of 1 corroborated by 2+ sources
BTD(7)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 103 →
bleeding disorder, platelet-type, 22 Platelet-type bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
EPHB2(5)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 33 →
Bnar syndrome Congenital diaphragmatic hernia
1 gene
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1 of 1 corroborated by 2+ sources
FREM1(4)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Bosma arhinia microphthalmia syndrome Cryptorchidism
1 gene
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1 of 1 corroborated by 2+ sources
SMCHD1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Bulimia Intermittent explosive disorder
1 gene
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COMT(1)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 97 →
immunodeficiency, common variable, 12 Upper respiratory tract disorder
1 gene
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1 of 1 corroborated by 2+ sources
NFKB1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 137 →
immunodeficiency, common variable, 2 Upper respiratory tract disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
inherited blood coagulation disorder Platelet-type bleeding disorder
1 gene
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1 of 1 corroborated by 2+ sources
APOLD1(4)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 33 →
Cutis laxa inherited pseudoxanthoma elasticum
1 gene
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1 of 1 corroborated by 2+ sources
ABCC6(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic macrocephaly Upper respiratory tract disorder
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB7A(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 137 →
Congenital diaphragmatic hernia Intellectual developmental disorder hypotonia behavioral
1 gene
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1 of 1 corroborated by 2+ sources
CDK8(4)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. —
Dandy-walker syndrome joubert syndrome 21
1 gene
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1 of 1 corroborated by 2+ sources
CSPP1(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 8 →
Dandy-walker syndrome joubert syndrome 30
1 gene
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1 of 1 corroborated by 2+ sources
ARMC9(2)
0.048 1.000 1.30e-3 2.06e-3 ✓ sig. Cluster 8 →

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