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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
Hirschsprung disease Waardenburg syndrome
4 genes
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3 of 4 corroborated by 2+ sources
EDNRB(7), EDN3(8), POLR2F(1), SOX10(8)
0.052 0.308 2.27e-7 1.50e-6 ✓ sig. —
Atrial flutter Cardiac embolism
6 genes
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PRRX1(1), GORAB(1), KCNN3(1), PITX2(1), ZFHX3(1), NEURL1(1)
0.048 0.120 2.32e-7 1.53e-6 ✓ sig. —
Hypoalphalipoproteinemia Lipoprotein lipase deficiency
3 genes
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3 of 3 corroborated by 2+ sources
APOB(4), DOCK7(2), PCSK9(2)
0.086 0.429 2.32e-7 1.53e-6 ✓ sig. —
Hereditary chronic pancreatitis Tropical calcific pancreatitis
2 genes
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2 of 2 corroborated by 2+ sources
CTRC(2), SPINK1(5)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. —
Hoyeraal hreidarsson syndrome X-linked dyskeratosis congenita
2 genes
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2 of 2 corroborated by 2+ sources
RTEL1(2), DKC1(4)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 64 →
Combined saposin deficiency Metachromatic leukodystrophy
2 genes
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1 of 2 corroborated by 2+ sources
PSAP(5), CDH23(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 118 →
Complement pathway abnormality Periodontal ehlers-danlos syndrome
2 genes
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2 of 2 corroborated by 2+ sources
C1S(2), C1R(2)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. —
Congenital malformation syndromes predominantly involving limbs Rubinstein-taybi syndrome
2 genes
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DLX5(1), SMOC1(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 249 →
Calcium metabolism disorders Craniometadiaphyseal dysplasia
2 genes
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ANKH(1), OTULIN(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 208 →
Capillary malformation-arteriovenous malformation Port-wine stain
2 genes
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2 of 2 corroborated by 2+ sources
GNAQ(3), RASA1(6)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 40 →
Visual impairment Visual system disorder
2 genes
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EFEMP1(1), PNPT1(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 146 →
Retinopathy background Vitreoretinal degeneration
2 genes
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ABCA4(1), LRP5(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. —
Cavernous malformations of cns Congenital cerebral aneurysm
2 genes
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PDCD10(1), CCM2(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 308 →
Cavernous malformations of cns Congenital malformation of cerebral vessels
2 genes
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PDCD10(1), CCM2(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 308 →
Arteriovenous malformations Capillary malformation-arteriovenous malformation
2 genes
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2 of 2 corroborated by 2+ sources
KRAS(2), RASA1(6)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 40 →
Auricle malformation Ovarian agenesis
2 genes
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DIPK1A(1), RPL5(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 236 →
Auricle malformation Erythroid hypoplasia
2 genes
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DIPK1A(1), RPL5(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 236 →
Benign hypercalcemia Calcium metabolism disorders
2 genes
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1 of 2 corroborated by 2+ sources
AP2S1(2), CASR(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. —
Bowen’s disease Huntington disease
3 genes
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3 of 3 corroborated by 2+ sources
NRF1(2), TFAM(2), PPARGC1A(2)
0.048 0.750 2.36e-7 1.55e-6 ✓ sig. —
Arthritis Pemphigus
3 genes
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2 of 3 corroborated by 2+ sources
HLA-DQA1(2), HLA-DQB1(2), CD40(1)
0.094 0.375 2.38e-7 1.56e-6 ✓ sig. Cluster 1 →
Dyslexia Post-traumatic stress disorder
11 genes
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2 of 11 corroborated by 2+ sources
FOXP2(2), MAPT(1), RBFOX1(1), SEMA3F(1), FAM120A(1), SGCD(1), CD276(1), INSYN1(1), SP4(2), ZDHHC21(1), KMT2E(1)
0.036 0.099 2.39e-7 1.57e-6 ✓ sig. —
Exudative vitreoretinopathy Polycystic liver disease
3 genes
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3 of 3 corroborated by 2+ sources
CTNNB1(4), LRP6(2), LRP5(7)
0.100 0.333 2.43e-7 1.59e-6 ✓ sig. —
Congenital impairment of spermatozoa motility primary ciliary dyskinesia
3 genes
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3 of 3 corroborated by 2+ sources
SPEF2(2), CFAP43(2), DNAH1(2)
0.100 0.333 2.43e-7 1.59e-6 ✓ sig. —
Congenital nonspherocytic hemolytic anemia Contact dermatitis
4 genes
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4 of 4 corroborated by 2+ sources
GSS(3), GCLC(3), GSR(3), G6PD(6)
0.048 0.333 2.49e-7 1.64e-6 ✓ sig. —
Cyanosis Hemoglobin f disease
2 genes
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2 of 2 corroborated by 2+ sources
HBB(2), HBG2(4)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 19 →

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