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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
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 →
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 →
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 →
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 →
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. —
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. —
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. —
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. —
Aortic stenosis Coronary syndrome
3 genes
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LPL(1), CELSR2(1), LPA(1)
0.048 0.750 2.24e-7 1.48e-6 ✓ sig. —
Oral submucous fibrosis Pleural diseases
3 genes
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3 of 3 corroborated by 2+ sources
IL6(2), TGFB1(2), IFNG(2)
0.107 0.300 2.24e-7 1.48e-6 ✓ sig. —
Berylliosis Oral submucous fibrosis
3 genes
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3 of 3 corroborated by 2+ sources
TNF(2), IL6(2), TGFB1(2)
0.107 0.300 2.24e-7 1.48e-6 ✓ sig. —
Esotropia Oral submucous fibrosis
3 genes
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2 of 3 corroborated by 2+ sources
TNF(2), PTGS2(2), CXCL8(1)
0.107 0.300 2.24e-7 1.48e-6 ✓ sig. Cluster 76 →
Nasopharyngeal carcinoma Uterine neoplasms
4 genes
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ERCC1(1), KRAS(1), CCND1(1), BAP1(1)
0.070 0.182 2.23e-7 1.48e-6 ✓ sig. Cluster 3 →
Dermatitis Sinusitis
4 genes
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3 of 4 corroborated by 2+ sources
HLA-DQA1(3), HLA-DRB1(1), HLA-B(3), IL13(2)
0.070 0.182 2.23e-7 1.48e-6 ✓ sig. —
Congenital fiber type disproportion myopathy Nemaline myopathy
3 genes
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3 of 3 corroborated by 2+ sources
ACTA1(4), TPM2(5), TPM3(5)
0.111 0.273 2.20e-7 1.46e-6 ✓ sig. —
Epidermodysplasia verruciformis Immunodeficiency
4 genes
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4 of 4 corroborated by 2+ sources
RHOH(5), CORO1A(3), MST1(2), IL7(3)
0.028 0.571 2.18e-7 1.44e-6 ✓ sig. —
Angle closure glaucoma Avascular necrosis of bone
3 genes
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CAT(1), NOS3(1), GSTM1(1)
0.115 0.214 2.17e-7 1.43e-6 ✓ sig. Cluster 21 →
Angle closure glaucoma Osteonecrosis of medial femoral condyle
3 genes
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CAT(1), NOS3(1), GSTM1(1)
0.115 0.214 2.17e-7 1.43e-6 ✓ sig. Cluster 21 →
Autism, x-linked X-linked complex neurodevelopmental disorder
3 genes
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3 of 3 corroborated by 2+ sources
NLGN4X(6), PTCHD1(3), NLGN3(4)
0.077 0.500 2.14e-7 1.42e-6 ✓ sig. —
Carpal tunnel syndrome Osteochondrodysplasias
5 genes
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5 of 5 corroborated by 2+ sources
COL11A1(3), COL11A2(2), COMP(3), ADAMTSL2(3), COL10A1(2)
0.054 0.152 2.12e-7 1.41e-6 ✓ sig. Cluster 345 →

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